Sunday, September 8, 2013

CUTAG ? : "My Genetic Test Results say what ?!? " 


What material should be disclosed to patients for their consent to medical treatment, especially elective treatments and those not considered standard of care, has continued to be contentious.  Genetic screening procedures take no exception to this.  Clinical staff have the burden of explaining genetic testing procedures and potential implications all while avoiding  overwhelming patients with genetic predispositions indicated for both the patient and the patient’s relatives.   Read this link and comment below:


Questions to think about: 
What are your thoughts on an individual’s right to not know information not immediately material to life choices?  At what point is there an obligation to medical staff to disclose additional information that originally was not sought and even possibly specifically noted to be withheld?  What criteria could be set to determine if/when such information should be given?


74 comments:

  1. My first thought on this article were that doctors take an oath to "Do No Harm." This could be interpreted in two ways. The first is obvious, that the doctor should do everything in his or her power to make sure that their patient becomes or remains healthy. The second is that the doctor should respect a patient's wishes. In this case, if a doctor disclosed information against a patient's wishes, it could do severe psychological or emotional harm. My first instinct was to think that patient's have a right not to know, but when I thought about my family and friends, I changed my mind. If they were in the position where their doctor knew life-changing information and could begin early treatment, I would want them to know about it. Thus, I agree that, in most cases, "failure to report these findings would be 'unethical.'" Assuming that the information could alter a patient's or a patient's family member's life, it should be disclosed. (For example, a cancer-causing gene or a gene for a disease that could be passed down.) The examples given in the article of when a patient may not want to know certain information seem to be the only reasonable time information should not be disclosed. I believe that if a patient opted out of not knowing certain information and later got sick, he or she might regret that decision later.

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  2. Before reading this article, and even after reading it, my opinion on a patients right not to know their results has stayed the same. As I read this article and thought about genetic testing on children and adults alike, I considered how I would feel in the situation or what I would want for my family members. I believe that patients should find out the results of their genetic tests. If a patient did not want to know, some may consider this going against their wishes. However, as Nicole Kory said in her comment, a doctor takes an oath to do no harm and I believe that telling a patient about possible gene mutations or diseases that may show up later in life is a key part of not harming them. By telling a patient about any possible genetic issues, they become more aware of things they may be at risk for or medications they should not use. I understand that some patients may be worried about discrimination by employees or insurance companies, but they are completely ignoring the Genetic Information Nondiscrimination Act we discussed in class, which protects them from this. On the issue of genetically testing children, I personally believe that my parents would want me to have been genetically tested as a child, as long as they were well informed about GINA. By receiving the results of genetic tests, you become more informed about your health and well being. For example, finding out if you have the cancer risk mutation would be key to early intervention. While Wolf, Annas, and Elias make an interesting case by saying elderly patients or those already battling another disease may feel that these results would be an added burned, I refute this claim. For patients battling another disease or those who are elderly, finding out this information would still be useful. This is something their family members would want to know and if the patients did not want to take action once they had these results, so be it. I stand by the saying "Knowledge is power" and I believe that knowing the results to genetic tests is something important that patients should know. Not sharing the results would be unethical and the patients may regret their decision later on.

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  3. After reading the article i believe that patients should have the right to not to know their results. Though doctors abide by the do no harm oath as Nicole and Sofia have have noted, this does not mean they need to disclose all information. I believe that there is no need for disclosure unless the disease is life-threatening to the child's immediate future. Many at risk diseases for the aging population, like cancer and cardiovascular diseases, will not affect children for years. I believe that once a child turns 18 they should be able to decide whether or not they will find out their results. At this point in the patients life they can make decisions for themselves and their health. That being said, i believe the testing should still be done because as genetics develops more at risk genes for diseases will be discovered that could affect an individuals immediate health, like genes that cause allergic reactions, but ones that will affect them later in life do not need to be disclosed.

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  4. Both Nicole and Sofia made very interesting comments that made me reconsider my view on the matter, however I still believe that a patient and their family should have the right to choose whether they would want genetic information disclosed to them or not. Simply put, it is their life and they should be able to decide things pertaining to them. Take for instance in a hypothetical a situation where a man is rearing around his mid-forties when a doctor accidentally finds increased levels of APOE-e4 in his blood test. The doctor is now put in a situation where he has to make a decision, to tell the patient he has an increased chance of developing Alzheimer's Disease or not. I understand that this is not an immediately life threatening disease, but there are two opinions that can be brought up and two ways of thinking about the situation. The patient can either find out the results whether it be by "force" or by will, or not know at all. The patient should be able to choose wether he has to live his life in fear that he may develop Alzheimer's especially when there is no direct cure. I really want to stress the patient's autonomy. What I found interesting in this article is that although ACMG believes that not telling patients of their potentially life threatening genetic disorders is "unethical", by going against a patient's will, the ACMG would be violating their autonomy which many ethical theorists would consider to be unethical.

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  5. The disclosure of information may be more damaging than helpful to patients who may develop anxiety after hearing results. However, it would be ideal for all patients to see what their genetics will tell them about their future health so that they can take preliminary action and make choices that may allow them to prevent certain diseases. It is also important for information to be disclosed so that family members can join together to take preventative actions. Initially I would not want to know what diseases I was predisposed to but it would just take me some time for me to realize that it is better to know and have an idea about what may come my way so that if anything were to affect me I would be prepared and know what actions to take. For example if I had been told I'd be predisposed to heart disease I would make sure I led a very active and healthy lifestyle. This wouldn't necessarily prevent disease but it would be the best option considering my circumstances. And at least I would know I've done all I could to possibly delay or prevent the disease.

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  6. Upon reading this article, my first thoughts were if I would want to know about my genetic test results. I thought about what stage I am in my life and how it could potentially impact me. I am a student, 20 years old, unemployed, yet I am comfortable in my life and have had many opportunities to travel and do the things I enjoy. If I had the option of receiving life changing genetic test results right now, I would definitely want to see them, even if the results showed I had some cancerous causing gene or a mutation that could be passed down. I think I would want to see them because I know that even though the news may be devastating, I could still do something about it - see doctors, receive treatment/surgery, or what not. I also have the support of very motivated and loving family and friends, who would be there to guide and help me though it all.

    Now I think about what if the circumstances were different. What if I was a single mom with three children, working two jobs just to meet ends meet? What if I already suffered from type II diabetes and obesity? What if I didn't have a supportive community behind me? Would I still want to know what lurking information the genetic test results showed? If my life were this, I think I would be more hesitant to want to know. What if I received tragic information- how would that impact me psychologically? Would I become depressed or would I still have the motivation to carry on and live life to the fullest?

    No matter what the results of genetic testing show, if a patient wants to know their results, there should be some sort of psychological support program to aid them, especially if the information of the results is life altering.

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  7. All previous comments regarding the Doctors role to "do no harm" makes me wonder what exactly constitutes as "harm". Yes telling a young person about their genetic mutations when they don’t want to know will result in a poor quality of life for them and harm their experiences as they grow up. However, I think we need to think of Machiavelli's famous saying " the ends justify the means". By telling a patient early on about a condition, yes it will harm them initially but if early treatment can help prevent sudden suffering towards the end of their life then you are saving them from harm in the end. I am a strong believer that Doctors are there to treat a patient, not just serve as a bank to store private medical information about a patient. Lets say a patient had chosen not to know about their condition and then they sporadically died. Would the doctor be at fault for withholding information? To address Wolf, Anna’s, and Elias issue of medical records inviting discrimination I think the way to handle that is to have strict laws against disclosure to any outside party beside the patient and doctor themselves.

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  8. This article brought up a range of questions to me about aspects such as the right to health care and patients autonomy. The saying "healthcare as a human right" is often discussed in public health, advocating that every patient deserves to have the same quality of life. Applying this statement, it would be deemed necessary to report genetic testing, in the event that someone has a genetic condition that needs treatment and proper healthcare. From this perspective, the ACMG recommendations have profound benefits.

    From the other perspective, it is important to focus on the individual's wants and needs as a consumer. The article mentioned how someone may have other conditions or situations in their life, so that if they heard bad news about genetic testing it would only harm them. For example, this could be the case if someone is very poor without adequate health insurance to even get proper care. Therefore hearing bad news would just harm them psychologically without there being the hope of some treatment. Both perspectives have merit, and it's important for the ACMG to think about both when making large Genomics decisions.

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  9. If a person does not want to know something about themselves that is their call; I do not think it should be up to a doctor, especially one who is gaining information that was not consented to by the patient, to determine what they need to know. In a life threatening situation the circumstances are different and therefore, so are the ways in which a doctor should interact with their patients. If the danger is not immediate and there is a window of opportunity for treatment, let the patient be. The very most the doctor should do is let the patient know that they found some anomalies and if they would like information they can ask but its nothing to worry about at the moment. It keeps the decision in the patients hands while at the same time fulfilling the "do no harm" section of the doctor's oath.

    If there is to be a specific criteria set for when this information should be given out I think it would have to do with the relevance to the patient. If its a disease that doesn't affect them until adulthood and the patient is still a child, there is no reason to burden them or their parents with such information. Or if it is someone who is dying from a disease already or battling with one, if the information can help treatment great, if it can not keep your mouth shut. In terms of when information should be given, if the doctors find something imminantly life threatening or that will cause problems within the next year, they should tell the patient. If they didn't they would be failing in their oath.

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  10. My initial response to this issue is that the patient's autonomy must be respected on every level. I agree with Wolf, Annas,and Elias, who wrote a paper in support of patient autonomy. The article indicates that once a patient chooses to undergo genetic testing, they must be tested for all 57 genes to look for possible disease risk factors or genetic mutations. This medical information may be useful for some patients who want to know their possible risk, but others may prefer to live their lives without the emotional burden of a possible, maybe even inevitable, medical condition. I agree that it would be very overwhelming for a patient who may already be dealing with personal or medical issues to receive upsetting news due to genetic testing he or she didn't want. Some people may prefer to live life to the fullest, without knowing that they have the potential to acquire or pass down a serious medical condition. This decision to get genetic testing should be left under the complete discretion of the patient and the patient's family, and by no means should the ACMG or any other organization be able to make that decision for someone. As long as the patient is completely informed of the possible outcomes of the specific testing, then they are competent enough to make their own choice about what they want to know. Sure, it may be difficult to lay out all 57 choices, but at least give the patient the option of which tests they want to perform.

    As a side note, I'm glad that Professor Annas and his colleagues from other schools have spoken up about this issue, and hopefully the ACMG won't require this "minimum list of 57" testing anymore. I hope the patient autonomy is protected, just as it should be in all areas of medicine.

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  11. My previous opinions regarding any hot topic relating to medical care have always leaned toward the side of patient autonomy. A few years ago my parents and I decided to take part in genetic sequencing through 23andMe. We originally decided to do this because there is a long history of heart disease in my family, and my dad is very passionate about reducing our risk to these diseases. Personally, I think the information we now have is invaluable, I am an advocate of the process through which 23andMe provides the information, and think that it should be applied in the debate of when a health care provider has an obligation to disclose genetic information. 23andMe gives all basic genetic information right up front (ex: heart disease risk, obesity, hair color/eye color information, vision disease risk). But in order to find out important information regarding the Alzheimer's gene, cancer risk, Parkinson's predispostion etc. you are asked to give consent. In my opinion, this process still respects patient autonomy while still giving the information crucial to their life at the moment. Therefore, I would have to agree with the ACMG in saying that it would be "unethical" to withhold information regarding a serious and immediate health problem. But I also agree with Wolf, Annas, and Elias in saying that the patient still reserves the right to choose whether or not he/she would want to know the information collected from genetic sequencing.

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  12. Upon reading this article, I was torn as to which side I agree with. On one hand, the additional testing of 57 genes is a well intended practice that will ultimately benefit the recipient, especially if there is means to cure the effects of the genetic mutation. On the other hand, I believe that a patient's autonomy is the most important aspect of any medical procedure, and that a person's decision to decline additional testing must be respected. I think an appropriate solution would be that the doctor explains (in depth) the benefits of any additional testing, and from that point the patient decides which, if any, of the additional test results he/she would like to receive. Basically, let the patient tailor the additional tests to his/her preferences.

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  13. This article raises an important controversy regarding the balance between patient consent and a medical professional’s ethical obligation to their patients. My opinion leans toward that of Wolf, Annas, and Elias. I believe an individual has a right to not know information that is not immediately material to life choices. It is surprising that a patient does not have the opportunity to opt out of testing for certain genes at the expense declining all sequencing – especially when patients previously had this right. If a patient has been informed of the genes they are being tested for, and want to opt out of receiving the results of certain genetic sequencing then they should have the right to do so, given that they are warned of the risks and disadvantages of not receiving those results. If a patient decides to not receive certain results, even after being warned of the risks, then a medical professional does not have an obligation to disclose that information; in fact I believe they have the obligation to withhold such information as per their patient’s wishes. Having patient autonomy is a fundamental individual right and thus patients have the right to decide what information they want to receive (given that they are appropriately informed).
    As for testing in children, children should receive tests that would indicate tendencies for the most common diseases (as is currently done), and ideally children should have the option of deciding what genetic tests they want done after they are 18; however, parents have certain rights when it comes to caring for their children before they are 18. This is a delicate issue as it involves balancing what tests the child may (not) want in the future, compared to the parents’ current decision. I don’t think that tests should be only limited to the bare medical necessity – I feel if parents want other tests that may help their child, they should at least have the option to do so. I agree with many of Wolf, Annas, and Elias’ arguments, but there are of course many factors and situations to consider.

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  14. The principle of informed consent- so dear to patients' rights in healthcare- stems from the Kantian idea of rationality and respect for persons. Adults are to be regarded as rational agents capable of determining their own conceptions of the life that they want to live. People should never be misled or used as a means to an end that they have not agreed to.
    By running genetic tests on rational individuals without their informed consent, rationality is being undermined. They are being used as a means to an end that they have not agreed to. That end may be data collection, health care cost reduction, or even improvement of the patient's health. No matter the motive of the tester has, the patient needs to authorize the test before it can be run.
    Young children are not rational agents, and therefore do not have rationality in the same sense that an adult has. However, if all goes well, children will grow into rational agents that will be able to make important choices about their lives. Until children, become more rational, it should be up to their guardians make important decisions for them. This means that a child should not be genetically tested without consent of a guardian or until they are able to make such decisions for themselves.

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  15. The principle of autonomy not only applies to a person’s right to know, but also to their right to not know. If an individual chooses to forgo any information not immediately material to their life, then their decision must be respected and upheld. Many working in the medical field are inclined to offer the greatest care possible, but when a person declines such care or information, it is then also the responsibility of the caregiver to respect those wishes, even in regards to genetic testing.

    Medical staff is obligated to disclose additional information that was not originally sought if it is immediately material to a patient’s health. However, if a person notes that they want specific information withheld, then it is to be withheld. Annas, a co-author of this article, writes in his book “The Rights of Patients,” that a physician is justified in not providing the patient with information in a situation where the patient declines such information (127). Therefore it is not unethical to withhold results that were not requested or declined to be shared. I do understand that sequencing may require testing beyond what the patient has requested, which should be fully understood by the patient in their consent. However, this does not give physicians the liberty to disclose the results, unless they are asked to.

    Information should be given only if it might cause a reasonable patient to seek treatment for the diagnosis. In regards to genetic testing, this should be heavily considered. The argument for disclosing patient results of unrequested genetic tests is paternalistic and unprofessional. Results should only be disclosed if it would result in a relatively immediate improvement in the patient’s quality of life.

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  16. I agree particularly with Danielle's comment that "when a person declines such care or information, it is then also the responsibility of the caregiver to respect those wishes, even in regards to genetic testing." Going explicitly against a patients wishes seems even more unethical than withholding information the patient does not wish to see.

    If genetic testing were to find information that could immediately effect the patient, it should be brought up that there is information available that could significantly change ones life-circumstance. However, if the patient maintains the stance that he or she does not want to know the genetic results, it should remain that way.

    Children should not be aware of genetic information regarding the future until they are the proper age (18 or 21 are the most likely options). While genetic information is invaluable, I believe that they can also serve as a self-fulfilling prophecy. What long-term diseases an individual develops is not all nature, but also partially nurture and the combination of life decisions over time.

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  17. At first I found it very difficult to form an opinion about this topic. I can entirely understand and almost agree with both sides of the argument. Ultimately, however, I believe that a person's right to chose what information they are given is the most important part of the argument. Considering that we are talking about information that may have been obtained without the patients permission it seems unethical to also force the patient to know this information. This raises another issue of the patient needing to be properly informed about what it could mean for them if they refuse to hear the results of the testing. As Divya Madhusudan mentioned, patients should have the right to refuse information given that they have been properly informed on the risks involved with refusing such information. There are many diseases that are late onset. A patient knowing they are at risk for some of these diseases would simply result in a patient living the first 30 to 40 years of their life, that would have otherwise been symptom free and "normal", in fear and anticipation of whatever disease they have been told they will likely develop. Patients should have the right to refuse this type of information.

    As some of my other classmates have mentioned I do agree that some information should be revealed to the patient if it means there can be immediate treatment that will significantly improve the patients quality of life. Even in this case, I still think the physicians should inform the patient of what type of information they have for them, and still respect the patients choice. By this I mean the physician should reveal that they have information that could dramatically change the patients life span or quality of life, and then wait for the patients permission to expose any further information.

    This is certainly a difficult topic because there are so many issues involved but in the end I don't see why someone else should get to make the call about an individuals knowledge about their own health. Some of us may want to always be informed and know every little detail about our health, others may wish to stay happily in the dark. Each individual should be allowed to make their own choice.

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  18. To begin, I would like to say I am a firm believer in a patient's rights and his or her autonomy in making medical decisions with assistance from their health care professional. However, the rights of a child I believe differ a bit. In genetic testing, I believe the results should be disclosed to the parents of the child up to age 16. Once past the age of 16, all genetic testing results should be disclosed to patients in order for the patient to be conscience of their potential or existing condition. I believe disclosure of this information could lead to some patients “beating their genes,” for example; a patient prone to obesity and heart disease may be able to live a more active lifestyle growing up. In this scenario, maybe the patient is able to stay fit through their lifetime and live a longer, healthier lifestyle. Now, to end, I would like to say that I really do not understand in what situation it is viable or practical to withhold patient information from the patient (unless the patient wishes this so.) The only cases I can foresee now would be cases in which the patient believes he/she could be “discriminated,” (as the article tells us,) or in a case in which the patient may become traumatized or overly self-conscience. However, the truth of the matter is is that everyone will have to battle their predispositions face to face rather than keeping them in the dark.

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  19. I think this issue presents an extremely complex problem and it is easy to come to different conclusions depending on what lens you look through. For instance, my first response to providing obligatory genetic information to patients was that it would help decrease the financial health care burden. As many in this class will know, preventative health measures tend to be less expensive than the medicines and procedures that are required for the treatment of a disease after it has appeared. Considering this is a huge issue in the US and many other industrialized nations, I believe providing the information from the genetic tests regardless of patient preference is a responsible choice on the basis of finances. However, I differ in opinion to those who see it as an ethical choice when looking at this issue through the lens of patient autonomy and rights. I think forcing patients to know the results of their tests is not the route to take in order to provide more people with their genetic information. By taking the choice away from the patient, I believe it causes undo burden and further deters people from receiving any genetic testing. I think increasing awareness and educating people about benefits of genetic testing, as Elisabeth Bellissimo explained through her experience, allows patients to be respected while still opening up the opportunity for early intervention. It is also important to reflect on the fact that these genetic tests, even without early intervention, may not produce disease. This is the main reason I believe it is unethical to test children before they can make their own choice. While I respect many of the opinions stated above concerning testing in children, I think it is best to leave such a personal and life-changing choice to the person who will bear the burden of the results.

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  20. After reading the article “Patient Autonomy and Incidental Findings in Clinical Genomics” reviewed by Science Daily, my opinion lies with the authors Wolf, Annas, and Elias. The call for reporting of incidental findings of clinical genomic sequencing without patient consent goes against the idea of patient autonomy. The individual should have not only the right to know about his or her health, but also the right not to know. Instead the American College of Medical Genetics and Genomics (ACMG) gives “no opportunity for the patient to decline unwanted information.”
    One can even go as far to say that the ACMG’s “no opportunity” rule goes against the idea of medical beneficence- doing the best for the patient. According to the National Human Genome Research Institute under the National Institute of Health at genome.gov, it is recognized that “harm such as incorrect medical treatment or unnecessary anxiety might occur if research results without documented clinical relevance are provided back to participants” (http://www.genome.gov/27026589) Clearly a benefit to the patient here does not exist.
    Also, upon further reflection, if laboratories are required to search an additional 57 specified genes and report findings wouldn’t there be a financial burden? Costs for genomic sequencing are not cheap and mandating a complete report would add up for the laboratories as well as the patients requesting only a limited amount of information.
    Thus, overall I believe in patients’ autonomy first and their rights to decline certain results when it comes to health.

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  21. This article brought about many good points that really made me question what is the right thing to do. With new information being developed and discoveries constantly being found I do feel that the rules need to change along with them; however, they also need to take into account the autonomy of the individual. The new recommendations by ACMG are too abrupt a change and need to include the individual. Although they are solely looking out for the individual and their health, not giving informed consent is going against our rights to autonomy and as individuals we deserve to know what is going on. Searching the additional 57 specified genes as stated in the article, “are results that are not related to the indication for ordering the sequencing but that may nonetheless be of medical value or utility to the ordering physician and the patient.” This serves as a good point because although these genes may not have to do with why they did the search in the first place, they could bring about more information that is useful to the physician and patient. With this in mind, as long as informed consent is given the genes should be tested and should be up to the patient if they want to know the results. The patient should have options, it should not be so black and white. It is there DNA, their body and it should be up to them what they want to know. The article states, “The ACMG calls for clinicians to report the results of the deliberate search for incidental findings to the patient, with no opportunity for the patient to decline unwanted information.” This to me seems extremely unfair and unethical. The patient is the one that should decide if they want their information or not. Getting new results could cause unwanted stress, could cause them to worry more and if they are older they may see no point in getting results that could harm them. I do believe that the medical staff needs to tell the patient the results of their findings but only if it is okay with the patient. If I was in the patients shoes I would want to know the results of my tests just so I could get all the proper help I need to live the longest life possible. However if I was lets say in my 70s or 80s and feel content with life then maybe I wouldn’t want to know what will kill me and would want to live the rest of my life worry free. Not everyone is like me and that is why as humans we need to be able to choose. If the ACMG does say that the results need to be given and there is nothing we can do about it then I believe that all information should be provided, miniscule or not. This way the patient can get the correct help they need and can live a healthy lifestyle.

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  22. As a society, we acknowledge and cherish the idea of being able to choose for ourselves. Applying this fact to healthcare and the development of healthcare technology, we need to constantly keep in mind how advancements will affect us, as people. So autonomy is a central aspect of all genetic testing, in that the patients have to be considered and put before the research/results.
    Patients are consumers, and "the customer is always right!" So I agree with the authors in that patients' autonomy must be respected. Simply put, this means that patients have the right to choose. So yes, I agree that patients can choose to not know the results of the 57 genetic tests that are done. Their autonomy would be broken if they are burdened with information that is not necessary to know, when they would have chosen not to know if previously given the choice. This is a matter of informed consent; and I believe that autonomy can only be respected when a patient is making a fully informed decision. The article points out that informed consent is even "the backbone of patient care." To respect this idea, if a patient agrees to have a single test performed, he or she should receive back the information and results that are relevant to the test that they already agreed to have done.

    I think that a doctor's responsibility to inform and "do no harm" gives the doctor the obligation to ask the patients something like:
    "Would you like to know about the possible incidental findings that may or may not have come into light while your genes were being tested in the lab? We test for X, Y, and Z at the same time when we sent out for your exam. If family history or any other factor makes you curious to know, we can discuss the results of the 57 genes that were also tested for."

    It is my hope that the ACMG will revise the rules that they have put out to give the patients a larger role in finding out information regarding genetic testing. I hope that the concern in this sentence can be addressed, and solved in the very near future: "Delaying testing and return of genetic information not medically useful in childhood allows the child to reach adulthood and then make a choice based on his or her own values."

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  23. I think your point about the letting parents know about their child's DNA test results if the findings are severe or something of that nature. However, this brings up another problem: who decides what is severe or where to draw the line of information that needs to be revealed immediately.

    However, I agree with what you say here and I wish that I remembered to include something in my answer about the severity of the results, and how that can take higher importance over someone's choice to not know. I think that anything life-threatening should be revealed to the patient (or parent of a child patient) even if they elect not to know. In saying this, I reemphasize that I think patients should be able to choose whether or not the results in total are shared with them.

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  24. After reading the article, I was shocked that as a society we have made this into a problem at all. Who gave the ACMG the right to require that a specific set of genes be tested in addition to those which were ordered by the physician in the first place? And secondly, why would anyone refuse to receive the results of screening which has already been done, regardless of the nature of the testing in question. As far as I am concerned, if testing of these 57 genes is required then it is the duty of the patient’s physician to share the information acquired from said testing with their patient. Granted the possibility of bad news frightens some people more than death itself, but as the old saying goes “the devil you know is better than the one you do not,” meaning that if the information exists it’s better to familiarize yourself with it rather than keep yourself in the dark. All medical professionals have an obligation to their patients to share with them any information which could have an effect on their health or wellbeing regardless of whether or not such information was specifically solicited by the patient themselves. In the case of a patient who does not want to obtain information about their genetics, the option to opt-out of certain testing should exist for these patients. However, as long as the ACMG requires that certain testing be done, the patient must be presented with all of the insight gained from such testing.

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  25. I advocate that patients have the explicit choice and control over whether or not additional genes are screened to indicate potential risk factors for genetic disorders and how that information is disclosed. The patient has a right to know their health status so s/he has the proper information to make informed decisions regarding her or his healthcare. The patient should have the opportunity to also decline having additional screenings performed and not give consent to have this information relating to genetic screens released to them if them do not want to know. Therefore I disagree with the American College of Medical Genetic and Genomics recommendation of mandatory supplementary screening of risk-factor genes that patients did not request to be screened. Rather physicians should give their patients the option to have these genes screened in addition to the screening requested.
    Parents should have control over whether or not these screens are to be performed on their children’s genomes as well. Physicians should encourage such screens so that parents can enact preventative measures to help their child reduce his or her risk of developing a genetic disease. I disagree with Wolf, Annas, and Elias’ argument that genetic tests and information not medically relevant to an individual’s childhood should be delayed until adulthood. Genetic disorders such as cystic fibrosis and sickle-cell anemia convalesce in childhood and ignorance of such genetic mutations until later in life could prove very detrimental, if not lethal. Additionally, delaying information of genetic screens if they are performed deprives the child and parents/guardians from enacting preventative measure to increase the child’s risk of developing the disorder or at least minimizing the effects. The power of consent must rely on the patient before any testing it to be done so that individuals can have a greater authority over the decisions made relating to their health.

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  26. I agree with the valid points of medical professionals who wish to inform patients of all genes they find due to genome sequencing. Although I understand the importance of patient rights, I don’t believe the negatives of informing a patient of their potential genotypic risks for disease outweigh the positives of early detection. I do, however, think that patients should be allowed to opt out of specific genetic tests by special request. I think a stronger emphasis on counseling and support in the event that a risk factor is discovered, along with firm legislation that discrimination based on genotype is completely illegal, are some of the remedies to the issues with disclosing all potential genetic risk factors to a patient.

    I believe that medical staff should be obligated to disclose any genetic information that could result in a treatable disease. Although I would personally want to know about genetic information that could lead to any disease, I think medical staff should only be obligated to disclose information relating to treatable diseases because this justifies the disclosure as having an achievable purpose and ensures that there can be a positive outcome for the patient in that they would receive early treatment/preventive measures. I believe this information should be disclosed even it was not originally sought. However, I do believe that patients should be allowed to opt out of specific genetic tests by special request.

    I believe that this information should always be disclosed/given unless the patient themselves or their legal guardian/representative has specifically requested for a specific test to be omitted. I also believe that in the special event that the patient is severely ill and/or if treatment would not help the patient, that they should have the option to withhold the information.

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  27. While reading the article posted, I became very frustrated. I’m surprised that the ACMG would recommend such testing that clearly disregards patient autonomy. Informed consent has long been a crucial aspect of our healthcare system necessary for upholding our moral and legal rights as human beings. In order to obtain informed consent, doctors must provide patients with all options, risks, and relevant information concerning the specific procedure or test. Without substantial understanding of the procedure or test, a patient cannot make an informed decision. Because the ACMG is calling for additional genetic testing without a patient’s knowledge and/or regardless of consent, the ACMG is promoting the violation patient autonomy.

    The article in response to the ACMG further exposes the flaws in this argument for additional genetic testing that goes beyond the primary purpose of the sequencing. Wolf, Annas, and Elias provide a thoroughly persuasive case, suggesting that the ACMG retract their original recommendation. I strongly agree with the points highlighted in the response article. I especially agree with the proposal to at least allow the patient’s to refuse the tests. Then patients would still have the right to decide and give their informed consent.

    Luckily, the ACMG report is only a recommendation that hopefully will be retracted after review of the ethics surrounding informed consent and patient autonomy.

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  28. I would like to focus on the second point Josh has brought up. While I would like to say that patients should know about something life-threatening, I think this information should still be withheld IF the patient still is unwilling to not hear the information. For example, assume there is a low income patient receiving stage 3 cancer treatment that is sucking up all revenue. Even if this patient were to receive more information on a life-threatening issue, he or she would be unable to afford it. In this case information would just provide undue burden and stress. So if the patient explicitly denies information DESPITE knowing the fact that there could be immediate consequences, that wish should be respected.

    Drawing the line for severity among children is more difficult to discern. In most cases, I believe genetic disposition for children would show up later in life (i.e. CVD, diabetes, cancer). While all of these problems are severe, they don't crop up later in life. Revealing of genetic data should be based off of how soon the genetic problem could appear, not necessarily severity.

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  29. Immediately after reading the article I completely disagreed with the ACMG. I do not think a patient should be forced to do anything or find out any more information than they wish in respect to their autonomy. While early detection could save many lives, and as Victoria Brown mentioned, decrease the finances of dealing with a disease if its found later on, it is a patient's right to be able to say they do not want this information disclosed. I saw this situation as similar to patients in the late stages of cancer who choose to forgo any more treatment. Yes, more treatment would elongate the patient's life but it may affect the quality of the patient's life which seems almost unnecessary when the inevitable result is death by the disease. Finding out through genetic testing that one is genetically more likely to get cancer or alzheimer's at an early age will not necessarily prevent the person from developing the disease so why should they be forced to know about this and suffer the anxiety of wondering when the onset of the disease will happen.

    I think genetic testing is great and that it can save many lives but taking the choice out of knowing the results from the patients gives genetic testing a negative connotation and will further deter people from getting genetically tested.

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  30. I agree with Jordan's argument regarding the relationship of the patient with medical staff in terms of knowledge of genetic information, in that a patient should not be forced to find out any more information that they wish to know. However, this problem is certainly complex and can draw in ethical arguments from both sides.

    It is clear that technology is progressing faster than law can keep up (this is also explained in a CNN article that deals mostly with social media http://www.cnn.com/2009/TECH/11/17/law.technology/index.html ). This rift is especially evidenced in medical care, and certainly by the dilemma presented in this blog conversation. Laws governing consent may never catch up to technology's advances, unless there is a change in the speed in which laws are enacted.

    In terms of my specific opinion, I am somewhat split. I believe that if a patient voluntarily seeks out medical care, and the results of their genome affects the outcome of their care, then they would need to have this information disclosed. But I would certainly feel upset knowing that my privacy had been invaded to that extent.

    Many Americans do not have a deep breadth of knowledge about genetics, other than that they govern heredity. Therefore, there is a possibility that patients who receive this information may feel unengaged and would not feel like their privacy was invaded.

    It seems quite unethical to force patients to know the results of their genetic sequencing, but it also seems unethical to NOT let patients know if something important arises from their genome.

    Perhaps the solution lies in the way that consent is given. Medical staff should assume beforehand that the patient has no knowledge of genetics, and give a sturdy overview of what it will mean to investigate their genetics. If the patient does not agree to having their results given to them, then they should not be given to them. In this right, I agree with Jordan, Mariah, and others in the class who feel like patients' rights are violated. This is certainly a very complex issue!

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  31. I agree with everyone stating that autonomy and the right to informed consent are vital in our healthcare system. I also agree that the recommendations made by the ACMG begin to violate these rights because if patients truly do not want to be told something about their genetics, then it should not be forced upon them. While saying that, there are situations in which the doctors should tell their patients about the results. For example, if there is something that comes up in the results that could be easily treated or prevented then the patient should be told. It is also true that by telling someone about a disease they may be predisposed for without their consent, you may bring about more psychological damage to the patient. It is very exciting to see that there are an increasing number of genes that can be tested, but the way this information is handled is clearly a sensitive topic. In my opinion this should be done in a case-by-case fashion through prior discussions between the doctor administering the genetic testing and the patient. With the doctor getting to know the patient, they would have a better idea of what the patient should be told and what knowledge would do more harm than good.

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  32. Respecting a patient's autonomy is one of the most important aspects of a doctor/patient relationship and I find it unbelievable that the ACMG would disregard a patient's rights in such a way.

    I do understand where they are coming from with their recommendations in that it can be seen as unethical for a physician to withhold life-changing information from patients. I do think that with their recommendations, they are also further protecting physicians from being sued for negligence. The problem is, however, if the patient does not wish to know the results of the genetic testing, it is up to the physician to respect their autonomy. It is similar to a patient refusing treatment; it is not the physician's decision to make. George Annas in his book, "The Rights of Patients", states "It's the patient's body. The patient is the one who must experience the medical invasion and live with its consequences. There is no obligation to accept any medical treatment, and it is remarkable that anyone ever considered it acceptable practice to treat an adult without informed consent" (113). I 100% agree with this statement and think that the ACMG should reconsider their recommendations to be more considerate of the patient's autonomy.

    Reading Elisabeth Bellissimo's comment above, I think that the way 23andMe informs patients on their genetic testing is the way that it should be done. I think that giving information up front regarding obesity and heart disease can be extremely useful, especially because both of these can be preventable. When it comes to more serious illness, such as Parkinson's or Alzheimer's, it should be up to the patient if s/he would like to know.

    The debate can definitely be argued both ways and even as I'm typing this and thinking more about the article, I can think of arguments to support both sides. In the end, however, I would have to say that a patient's autonomy comes first and that physicians and the ACMG need to respect that.

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  33. In my opinion, informed consent is one of the most important principles that establishes a trustworthy relationship between the doctor and the patient. This relationship is important to maintain so that patients feel comfortable asking their doctor about health-related questions and begin to value their doctor's opinion. I believe the patient has the right to know, or choose to opt out of knowing something about their health, especially if the harm would not be immediate. I understand the concern that some researchers and doctors have, that they feel it necessary and their responsibility to tell the patient of a genetic predisposition to a given disease, especially if there is an early intervention to prevent the onset of the disease. However, it should ultimately be the patient's decision about what information he or she wants, as well as if he or she decides how to act on this information. Ofcourse the patient should be well-informed that if they were to go through genetic testing, there is a great possibility to intervene before sickness occurs, and with this information hopefully the patient will make the right decision for himself/herself. If information is asked to be withheld, I think the doctor has the responsibility to adhere to the request, and focus on maintaining the trust of the patient.

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  34. From my understanding of the reading, informed consent and autonomy are being violated because of a practice that is required by the American College of Medical Genetics and Genomics, ACMG, which does not allow the patient to have an option to deny an additional test that is being conducted on his or her body. By realizing that the ACMG is conducting a genetic test on other genes of your body this can lead to medical professionals finding health risks, treatments to a certain illness, and, most importantly, "incidental" findings.

    I agree with the general consensus that personal autonomy and informed consent are extremely important in healthcare and it should be a medical professional's priority to uphold a patient's requests.
    I also understand that a medical professional's job is to give the best care within their means but this does not mean that ACMG should deny a patient's personal medical autonomy.

    The test that the ACMG's additional test can prove to be useful in determining a patient's health and health risks in the duration of his or her life. However, by exchanging knowledge of potential illnesses that may occur in our bodies, we risk potential medical discrimination and violation of personal autonomy. One could argue that HIPAA, HITECH, and GINA prevents medical discrimination and from outside sources knowing our personal medical history. This can only bring closure to a patient's fear of the risk of medical discrimination. HIPAA, HITECH and GINA does not alter the truth that informed consent and medical autonomy is violated through an additional test.

    I believe there are valid ways to get around this issue and have patient requests and ACMG's requests granted. Perhaps a valid conclusion to this whole dilemma is offering parents and patients the option of testing their genes to inform them of their health risks in their life.

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  35. I have to completely disagree with ACMG's recommendation (no consent needed) to genetic testing. The medical industry is blatantly ignoring patients' right to autonomy and consent to authorization. I believe these actions are against our basic rights based in the Constitution. Allowing research labs to check our genetic information without our consent will set a dangerous precedent. ACMG is already planning to expand the genetic diseases they will check in children. This means that they will acquire even more genetic information from the patient and their children. The information can be sold to health insurance companies and create genetic discrimination.

    I believe that this situation is very similar to what the NSA is doing right now. The NSA is going through our emails, texts, and phone conversations for the sake of national security. While ACMG might have good intentions, it is vital that they acquire the patients' consent before they conduct these experiments.

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  36. I believe that a patient should always have the right to refuse to be disclosed medical information from their doctor. Therefore I completely disagree with the ACMG because as they say, it is unethical to not report findings of the genetic screenings, and I on the other hand, believe it is unethical to disclose information to a patient if they don’t want it because it goes against their autonomy. If a patient is educated by their doctor about possible outcomes of the testing and is aware that there is counseling and other support groups following any kind of negative information that could come from the results of their genetic tests, and yet they still do not want the results, it is in their rights as an autonomous individual to make that decision. If someone would rather live without being made aware that they have a potentially fatal genetic condition, that is up to them. People take in information differently and have different values to their life, so as long as they are aware of what denying any information about their genes could mean, they should make their own decisions and live their life the way they want. Also I disagree with the ACMG that further testing of 57 genes is mandated because I think that if a patient doesn’t want the information disclosed to them in the first place, further testing is unnecessary and a waste of money.
    For genetic testing done on children, I think there are situations in which the results should be relayed to the care providers of the children. Under most circumstances, the parents should decide for their child whether or not they want to know the results of the genetic screening. However, if medical professionals believe for whatever reason that the parents don’t have the child’s best interest at heart, than outside counseling should intervene and make sure that the child is given the best possible care.

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  37. I believe that all information about the individual belongs to the individual and that he or she deserves the right to know. Not telling patients that they have been tested on and keeping the information from them can be seen as deceitful. The patient should be aware that they are being tested, and should be informed that the information will not be revealed to them. Then, the option to opt out should be available. As much of the class agrees, a patient's autonomy deserves the most respect, and their wishes and opinions should be valued above the rest.

    I do agree with Shanika about the benefits of early detection outweighing the risks of informing a patient about their genetic makeup, even if they did not request it, especially if the information could be lifesaving. I also agree with Elisabeth about testing being unethical if information is withheld from a patient. Patients should have the option to know what was found in their genetic sequencing if they want to.

    The biggest point is just knowing beforehand that he or she will be tested. No person should be forced to do something he or she does not want to do. That is just a basic human right. Once there is secure protection against disclosure of the information found, the question of a patient's autonomy and the righteousness of gene sequencing will not be much of a debate at all.

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  38. I believe that everyone should have a right to informed consent, but within reasonable boundaries. I think that as a doctor or a health professional, their duties include making their patients aware of any problems they may have. I think that if certain tests were taken and the results showed a potentially harmful risk, then the doctor should absolutely have the right to tell her patient. Therefore, I agree with the findings of the ACMG, that failure to report such findings would be considered unethical.

    However, I do believe that patients should have the option of opting-out from receiving their results. But such an option should only be given in special circumstances. I believe that an example of such a circumstance would be one in which receiving the results of the test may cause more harm than the condition the test may have revealed. Being able to opt-out of receiving their test results should only be done in certain circumstances and on a case-by-case basis. The vast majority of test participants should receive their results.

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  39. Any time there is a technological advance in the medical field there is an inevitable debate over the ethical implications that it brings about. The first is informed consent, which has to be obtained from an autonomous individual who has enough knowledge about the topic to make an informed decision, and the consent has to be obtained without coercion. Secondly, there must be a balance of the ethical principals of autonomy, beneficence, non-maleficence and justice. The mantra of autonomy is that the patient has the final say in their healthcare decisions provided that they have the mental capacity to make the decisions. The concepts of beneficence and non-maleficence basically focus on providing the greatest quality of life. The direct influence of procedures and drugs is often obvious when examining possible decisions, but the psychological repercussions can easily be overlooked.
    Often times medical providers run into a conflict with beneficence and autonomy where their training and experience tells them that a certain procedure or drug is the best, but the patient refuses. An example is the case of a Jehovah’s Witness who will not accept blood transfusions because of their religion. Physicians tend to reluctantly agree until it becomes a matter of life or death, in which case the physician appeals for a guardian to make the judgment, or simply acts on their training. The concept of non-maleficence dates back to the writing of the Hippocratic oath physicians take where they are recognize the duty of “doing no harm”.
    To revert back to the concept of genetic testing and an individual’s right to not know information not immediately material to life choices, it is imperative that we examine a multitude of ethical principles only some of which are mentioned above. In the cases above where autonomy competes with beneficence and non-maleficence, the former usually trumps the latter, which puts an individual’s preferences above what appears to be medically in their best interest. That is, until it is a life or death decision when it can be said that the individual is not competent to make the decision. So, I believe that an individual who does not have an immediately life threatening condition depicted on their genome has every right to decline the knowledge. That right to not know is amplified if there is nothing that can be done in the meantime, but wait for the disease to hit. In this scenario, ignorance is bliss. I personally would not have the capacity to life a normal life with the knowledge that I would most likely develop Parkinson’s or Huntington’s for example. For some people, the knowledge of impending morbidity or mortality would be enough of a wake-up call, for others it would be too much of a stressor and something that stole the joy of life away from them. Who are we to make a decision for those people, especially if there is no definitive treatment or therapy?
    In conclusion, the issue comes back to informed consent, and should be left to the relationship between physician and patient. A patient can decline to have a biopsy of a suspicious lesion, deny surgery, deny chemotherapy, or they can consent. The same should be true of genomic information. Physician in Latin means teacher, so physicians should make the availability of information known to their patients, but when all said and done the decision rests with patients, as it should. Finally, one issue that was noted in one of the articles we read was that genetic testing/sequencing is prohibitively expensive apart from being a test subject. This does not promote equality of care for the time being. As far as criteria, if the ethics of medicine is applied to the situation that should provide a decent starting basis as the technology develops. The fact that ACMG is even considering forgoing the process of consent is a little frightening as that is one of the most important processes in medicine, and rightly gives patient the ability to determine the medical route they take.

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  40. I completely disagree with ACMG’s recommendation to mandate genetic testing without the patients’ consent. I understand that these tests are conducted to care for the sick and to prevent disease, allowing medical professionals to begin early treatment or closely monitor patients that have the potential for certain diseases, but they must be done so ethically. Although there are benefits for genetic testing, there are also many risks that accompany these tests. These risks include discrimination, stigmatization, loss of self-esteem, damage to parent-child relationship and unnecessary anxieties. These tests are not only a violation of the patients’ privacy, but they also have the potential to completely alter a person’s life. The sole purpose of genetic screening is to prevent or cure disease, however these tests have the potential to strongly influence a persons life and our society as a whole. Many social and ethical issues encompass genetic testing, therefore it is only right to give patients the choice to be tested or not. I believe that genetic screening must be conducted on a voluntary basis. With the introduction and growth of public health practices, preventative care has been at the forefront of medical practices. Predictive medicine is an integral part of preventative care therefore genetic screening will continue to have an increased role in our health care, but it must be done in a respectful and ethical manner.

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  41. First and foremost, I believe that patients should have the right to know or to not know. I disagree with ACMG’s belief that it is considered unethical to not report any findings to patients. If a patient decides to decline any medication that might be beneficial to them, then so be it. Medical professionals should not force any care without the patient’s consent.
    I will also have to disagree with them about the patient having no opportunity to opt-out the testing. The patient should be informed when they’re getting tested and why they’re getting tested. After that, it should be the patient’s decision to either get tested or not get tested and to know the results or not to not know the results.
    And to reply to the “the patient may also fear that extra results in their medical record will invite risk of discrimination,” that is why we have the Genetic Information Non-discrimination ACT (GINA). This Act prohibits insurance company from denying coverage to individuals or charging them higher premiums based on their genetic predisposition to developing a disease in the future. Therefore, patients should not decline testing because of this reason.
    To summarize, I believe that patients should have the right to know when they’re being tested and also be given the option of opting-out from receiving their results.

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  42. If something is tested and it is suddenly clear that the patient is at high risk of death or other significantly negative, permanent effects then I feel it is one's duty to inform the patient. No one would notice profuse bleeding out of someone's leg and think "well they have a right not to know so I won't say a word." You would likely be viewed as irresponsible and heartless for doing so. However, genetic testing seldom reveals any health effects that place patients in grave danger such as the aforementioned heavy blood loss.

    Genetic knowledge is more comparable to someone standing on the train tracks. You may see and hear a train chugging and puffing, miles away (like discovering a young person's severe risk of heart disease later in life). You may wait a minute or two, thinking the person on the train tracks may walk off on their own accord (like beginning exercising or improving their diet). But if the train gets close, you will scream at them or even push them off the tracks (in old age, you would inform them of their risk).

    I have read comments about informed consent stating that the patient must be informed to give consent for testing. Well, informing is the whole point of genetic testing. You cannot make a truly informed decision if you do not know of your high genetic susceptibility to whatever matter is at hand. However, these comments are still correct because the patient's consent to the test comes before informed consent of treatments. If no one can force you to go to the doctor then no one should force you to have parts of your genome tested.

    I feel that just like going to the doctor, genetic testing should be highly encouraged but it simply cannot be forced. Similarly, it is asinine to smoke, but no one can force an adult to stop smoking outright.

    This issue creates a great paradox of informed consent. No one should have their bodies tested without being informed, but everyone should be informed of what they are at risk for. To ease this paradoxical tension, I think it should be strongly encouraged to be tested with social pressure to do so. I feel that an adult should be able to handle knowing what they are at risk for. Preferring bliss of ignorance to reality is a very weak, irresponsible excuse but I unfortunately have to say it's valid. However, we should become comfortable knowing what health issues may affect us. Everyone knows they are going to die someday but nobody feels that death should be swept under the rug. I don't think that knowing your risk of health ailments should be much of a jump.

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  43. Although I am clearly no expert in the fields of genetics and ethics, I immediately had a strong first reaction to the information presented in this article. After my initial reading, I strongly disagreed with the recommendations put out by the ACMG to examine 57 additional genes when a person is undergoing any clinical sequencing, despite the patients not having an opportunity to opt-out, unless they choose to completely opt out of all sequencing. I was particularly struck by the fact that many of these additional tests included testing for cancer risk mutations, which people have previously been able to refuse testing for. While I understand that technology in this field is rapidly changing and can be hard to keep up with in an ethical sense, the underlying concepts of patient autonomy and informed consent need to remain up to date. My first reaction was that a patient’s autonomy is clearly being violated if they are forced to learn the results of their genetic testing, even if they do not wish to know it. I think that in order to determine what information and results will be given to a patient, the patient needs to be given some form of education and counseling. Therefore, they will be more equipped to make an educated choice and give informed consent in regards to what results they would like to be given to them.

    After thinking about it more, I have begun to think about some of the reasoning behind the decision of the ACMG and while doing so I decided to look more into their goals and mission. In doing this, I saw that their mission statement is “to improve health through medical genetics.” This helped me to reasonably understand that the additional testing that they recommend is in attempt to fulfill their mission of improving health. If a situation were to arise in this testing that would have a serious impact on the person’s health and the patient had sought out medical care that involved genetic testing, then I completely feel that they should be made aware of the results. Furthermore, I would not doubt that they have and could continue to make large strides in this mission of improving health through this specific recommendation. However, I still agree with my initial reaction that forcing a patient to receive results that they did not give their informed consent to receive does not seem to be ethical.

    Lastly, as Alex previously mentioned, technology is advancing extremely rapidly, especially in the fields of science and medicine. It is extremely challenging for laws to keep up with this technology, and I feel that it often takes one extremely unethical case to be brought forth for there to be any changes in the current statutes. Another major concern that I feel in regards to the quickly advancing technology involves the physician’s roles in these situations. Physicians who were trained decades ago (or even years ago) most likely did not have extensive training in this specific field. I am concerned that they may be given some genetic information and either not know how to properly digest and present the information to their patients, and/or not know the implications of doing so, which could further complicate the issue for a patient who has very limited knowledge of genetics.

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  44. While reading the first paragraph of this article all I could think was "why wouldn't anybody want to know if they are predisposed to having a severe disease that they could potentially avoid". By the conclusion of this article my mind completely changed. I think that informed consent and personal rights are key here. A person should have the right to refuse information not immediately material to life choices because they shouldn't have to live in fear of developing the disease, undergoing procedures prematurely, and passing traits on to their children. For example, a child should not have to know that she's going to develop breast cancer along with knowing that she's positive for something like cystic fibrosis. Unwanted information just puts a huge load on someone who never wanted to know the answer in the first place!

    I think that if a patient completely understands the implications of genetic testing, knows that there is potential for the medical staff to find other diseases, and still says they don't want to know about any certain diseases then the doctor has no obligation of telling the patient that they have/are going to have it. Even though every doctor takes the hippocratic oath and agrees to do no harm a doctor would essentially be doing harm to this type of patient if he gave the patient unnecessary information. In my opinion health has three parts: biological, emotional, and spiritual. A doctor would be ruining emotional and spiritual health for a patient if he divulged unwanted information therefore I don't think there's any obligation.

    I think the only criteria is to look at life stages and see what makes sense to tell a patient. Does it make sense to tell a patient's parents that they have mutations for diseases they might get in 20 years as adults? no. But would it make sense to tell the parents that their kid has mutated genes and can get cancer at age 5 so they should start screening for things now? Yes. Although there are no set boundaries doctors aren't stupid and I think any doctor with common sense should be able to know when the right time would be to tell their patient that they may suffer from a disease in the future. Now if that's not true then shame on me; but I think that they've been through enough ethics and public health courses (at least newer doctors) to make the right decision.

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  45. I completely understand from a clinical point of view, the health implications of incidental findings of genetic testing. Physicians may face a serious dilemma if they discover information about their patients genetics or predispositions for certain conditions but their patients have chosen not to know this information. As physicians, they have a duty to do what is best for their patients health, including informing their patients of crucial medical information.

    However, whenever I begin to think about medical ethics issues I usually refer back to my belief in individual liberty and autonomy. Not being able to make decisions about our own lives, our health, and our treatment is a huge violation of our individual rights. I completely agree with the authors of the article on Patient Autonomy and Incidental Findings in Clinical Genomics who state that patients have long been able to refuse testing or treatment for diseases like cancer or cardiovascular disease. Patients should not be subjected to genetic testing without consent in the first place, let alone be forced to know information from those tests if they choose not to.

    Medical advancements can inevitably come with an abundance of scientific, moral, and ethical questions. With the recent rapid advancements in genetic testing, I can certainly understand the excitement for the prospect of personalized medicine. However, we have to make sure this does not come at the expense of patients individual autonomy. While genetic science and technology are currently advancing faster than policies surrounding the issue, we need to begin to develop more extensive consent laws that protect the patients to help bridge this gap.

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  46. I disagree with ACMG’s decision to authorize genetic testing without patient consent. Every patient should be entitled to make his or her own decision. It is unethical to not tell a patient what they are being tested on. Withholding medical information from a patient will not only create a distrustful relationship between the patient and the doctor, it will cause more issues. Imagine a doctor who is withholding important medical information from a patient; they are holding a persons fate in their hands and chose which information is to be told. That does not seem ethical. Additionally, every patient should have the opportunity to opt-out from testing that they do not desire. They should be fully informed of the procedure, and then from that point decide if they would like to be tested or not. By not properly informing the patients and allowing patients to make their own decisions, ACMG is infringing on patient’s autonomy.

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  47. Upon first reading this article, I was shocked that laboratories would routinely test for more than what was requested without informing the patient. After some deep consideration, I came up with one main reason why they would routinely test 57 genes: paternalistic utilitarianism. In this case patient’s autonomy and the American College of Medical Genetics and Genomics (ACMG) paternalistic drive to help the most people come into conflict. The ethical principle of autonomy dictates that people should be allowed to exercise their capacity for self-determination, so long as it does not interfere with someone else’s autonomy. Although autonomy is a principle we value, it often overridden. For example seat-belt laws infringe on our autonomy, but are paternalistically implemented as an act of utilitarianism, creating the greatest good for the most people. Similarly to the seat-belt laws, this inclusive testing prevents unnecessary deaths.
    Although I think a patient should have the right to know what their genes are being tested for, I don’t not think only testing a couple genes should be an option. The medical professional should be clear and direct with the patient, informing them that their genes will be tested for whatever primary purpose it’s being tested for, but 57 genes will also be tested, for which the results could indicate unrelated medical disease or propensity towards disease. In this case, the patient is given the autonomy to decide whether or not they want the testing in its entirety. Furthermore, the interests of the greater good are maintained because treatment and prevention can begin earlier in a greater population of people.

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  48. I have somewhat of an indifferent outlook on here. I have taken part in a lot of research as a participant and also as a researcher. I believe that informed consent is extremely important for legal issues and also so the participants/patients will be able to feel comfortable with what you are asking them for. However, I also believe that for science to further progress, there needs to be undercover work done. By that, I mean that we should not know everything science is trying to do when it is in only the beginning stages. It is much more beneficial once scientists are able to come out with proof in something that they have discovered.

    The indifference comes in when I think about a patient's testing resulting in a life threatening disease. I believe that the patient should be told about this from their physician immediately but only if their circumstances allow for it. If the patient is elderly or is suffering from a terrible disease already, perhaps it could be said that there is a risk for this other disease but I believe that if the patient is already going through so much, it is unfair to dump a whole other issue on top of everything else. Also, scientists seeing risks from mutations in their DNA may not necessarily prove that the disease will happen. With that said, I think patients should only be informed if it is absolutely essential to start them with some sort of treatment for a disease that they pretty much are guaranteed to develop.

    In newborn testing, I think that it is important to inform the parents if there is a risk of disease that may affect them young but it is somewhat ridiculous to tell them that their 3 week old child may develop Alzheimer's disease when they turn 50.

    All-in-all, I believe that further, uninformed testing of a patients' DNA is important for the progression of science. I think that informing patients about discovered mutations or genes is on a case by case basis. And, perhaps to make the testing more ethical, the researchers could pool DNA anonymously so that there would be no issues if they found risks for something because there isn't a name on the sample.

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  49. I disagree with the ACMG's view of mandatory notification of genetic testing results. It clearly infringes upon the ethical issue of informed consent, as parents reserve the right to choose what tests are done on their children as well as on themselves. I recognize that these tests are intended to provide early treatment opportunities and prevent loss of life but, this must be achieved ethically with consent from the patient. In my opinion, I feel that a considerable portion of the population would not want to know results of their tests, not to mention having other people know these results. Patients should be provided with all information such as all potential benefits and consequences so that they can make an informed decision about whether or not to proceed with testing. In some cases, the results could be highly unnecessary or potentially lead to discrimination against an individual for health insurance and employment purposes. I feel that going through my whole life knowing that I was at high risk to develop Alzheimer's, would seriously affect how lived my life. Again, while the benefits of this genetic testing could potentially save lives, this end does not necessarily justify the means of obtaining genetic information without informed consent.

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  50. After reading the article, I am somewhat leaning towards ACMG's testing of 57 other genes without patient consent. I understand that informed consent is very important and that testing a patient's genes without consent is unethical, but If the benefits of testing outweigh the risks, then it should not matter. There will be better opportunities for early intervention treatments if risk of a certain disease is found. If a patient were to opt out, they may regret it later on. Patient relationship with doctors should be close so information found from gene testing should be passed onto patients even if they choose not to know. I personally find it better to learn everything about myself through gene testing. I would rather want to know instead of finding out later when it might be too late.

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  51. While reading this article I was able to understand and sympathize with both sides of the issue. On the one hand, the patient may have good reasons for not wanting to know certain information from their doctors. For example, as stated by the article, the patient might already be dealing with another debilitating condition. The knowledge of more potential risks of diseases might just increase their stress levels, which can only harm their recovery progress. On the other hand, it is the role of the physician to care for and treat the patient, as well as alert them of any harmful conditions. I personally feel that I would have to side in favor of informing the patient of the potential risks. As mentioned by Jenna in the comments above, I tried to put myself in the shoes of the patient. I should be able to trust my physician and i would not feel comfortable if he or she were to hide anything from me, no matter how minute it would appear to be. I even agree that in certain cases, it would be unethical to respect the patient's right to not know about the results of their genetic testing.
    I feel that it is necessary to report any findings to the patient, even if the information is not pressing at the moment, because treatment options or lifestyle changes can soon be implemented. This is especially true in the case of children. If my son or daughter had the potential of developing a condition like heart disease, diabetes, or anything else, I most certainly would want to know. I don't feel that this violates my autonomy or the autonomy of my child. If anything, I believe that this would help my child in the long run. With this knowledge, I could sit down with a professional and discuss possible shifts in my child's lifestyle like diet, exercise, and downtime to decrease the risks (if possible) of developing any of the conditions. Those concerned about discrimination from employers and health insurance policies should not fret due to the Genetic Information Nondiscrimination Act, which protects people form being turned down from employment or insurance due to a genetic predisposition, as mentioned by many of the students above.
    Whether life threatening or not, I believe that any patient or concerned parent should be fully aware about their health or the health of their child. I am not inferring that one should live in constant fear of potential diseases; I am merely stating that one should want to live a healthy lifestyle and learn which conditions could compromise his or her quality of life.

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  52. I would like to address my thoughts on the AMCG’s recommendation by breaking it up into its three parts. The first part is that the lab must examine 57 additional genes if a patient is getting any sequencing done. From what I gathered, patients are either unaware this is being done or give broad consent to the examination of these 57 genes by getting the sequencing done. In either case, it seems like the patient is denied the explicit knowledge of this procedure, which is a violation of patient autonomy (like many have already stated). An additional problem is that it perpetuates the practice in the American health care system to treat patients as unknowledgeable consumers of a good. Going to the doctors office is like going to a used car dealership insomuch as you are deviously pressured into making an uninformed decision. This violates a patient’s autonomy, breaks the trust between a patient and their physician, and further divides the gap between a physician and lay people. If patients have been able to deny the examination of certain genes in the past, then I see no reason why they should be denied this right now; the AMCG should implement tiered consent policy when it comes to the examination of genes.

    The second part of the recommendation is that the findings must be reported to the physician and patient. Again, the overarching problem is with patient autonomy: patients should have the right to deny knowing about the findings. Now let us say the patient is given the right to deny hearing this information, but the lab must still report findings to the physician. This then puts the physician in a very complicated position where they must choose between either respecting their patients’ wishes or intervening. This scenario can be avoided if the problem with the first recommendation is addressed and patients are given the right to deny the sequencing of certain genes altogether. The problems that arise with the two parts of the recommendation could be taken care of if patient autonomy was not infringed upon. Respecting patient autonomy should not be a problem if physicians are knowledgeable enough to explain what is being tested, the implication of any abnormal results, and the risks of refusing to know while assuring the patient that it is completely in their right to deny any part of the test.

    The final part of the recommendation is applying the previous two parts to children. If I stick to my previous assertions, then patient autonomy, which in the case of children belongs to their guardian, is still the most important factor. In this scenario however, I am tempted to say that doctors should be obligated to report any immediately life-threatening abnormalities. I say only immediately life-threatening cases because it is not a physician’s job to predict the future, but it is their job to save their patients life. I do not say this with as much conviction because the entire previous statement can be interpreted in a variety of ways. Finally, I will say that if the AMCG’s recommendations still require the testing and the reporting of the findings, then I would recommend that only preventable or treatable abnormalities be addressed.

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  53. Two principles of medical ethics come into conflict here: autonomy and benevolence. We live in a world where our scientific knowledge and advances are at large and constantly growing. These scientific advancements often benefit us and allow us to become more advantageous against the diseases that threaten our health. Recently, advancements in genomics have allowed us to undergo genetic screening that can inform us of any predispositions we may have to disease. According to the principle of benevolence, heath care providers have a duty to serve the best interests of there patient's well being by providing them with the best treatment possible. However, like any other modern medicine we have today, patients have a right to choose for themselves whether or not they want to undergo any form of medical treatment or process. So while we are fortunate enough to have access to many life changing treatments, that doesn't mean that they should be forced upon patients just because they exist as an option and this applies to clinical genomic sequencing. The ability to conduct clinical sequencing may be incredibly beneficial from the medical standpoint since it would allow for early intervention and treatment to prevent or buffer diseases we are predisposed to but, it can come with various risks as well. It can affect a patient negatively depending on his or her preferences and it could cause many negative consequences for them such as anxiety, fear, or social discrimination. Thus, I disagree with ACMG's recommendation for mandatory screening. If the sequencing is as beneficial and valuable as it seems, patients will opt to undergo it themselves regardless but, those who feel that it will not benefit them should be able to decline it. Doctors should be able to understand their patient's needs and values and thus, encourage this new technology if they deem it beneficial for the patient. However, if it is against their patient's wishes, it would be unethical to force any kind of medical intervention upon them that could expose them to any negative consequences.

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  54. I disagree with ACMG's recommendation, but I can also understand their reasoning behind it. The patient should have the final say in what and how much information is disclosed to them. There is no issue with the patients who want to know everything; it is when patients only want to know the minimum that issues arise.

    ACMG is staying true to the "do no harm" principle by not withholding information, but isn't telling patients information they don't want to hear "doing harm" as well? This harm would be in a psychological sense, where patients would have to live with the anxiety of knowing that they have an additional medical condition, one they were not supposed to be tested for. Some people would prefer not to know for this reason exactly. For example, like the article said, people already battling preexisting diseases might not want to know about another condition they have developed.

    However, on the other hand, how can you not inform a patient that they have developed a serious condition, especially if they have children who could inherit the disease? This is where some criteria should be established. If the patient doesn't want to know everything, they should sign off to allow doctors to inform them if certain circumstances arise. These situations could include if the patient has a disease that could be inherited by their children, or if the disease will progress quickly, such as cancer, and the patient could only have a few years left to live.

    These debates over genetic testing can lead to a slippery slope. There is a lot to take into consideration especially for future testing. As genetics is such a rapidly growing field, it is important to set strict guidelines now, before patients lose their autonomy and control over their DNA and what is done with it.

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  55. Genetic testing has become very popular and has gained a wide recognition for the many advantages it has to offer in the prevention, management and treatment of a certain disease. Furthermore, as AMCG states it would provide an opportunity for many people to become informed about their genetic predisposition to certain diseases. However, I completely disagree with ACMG's testing of 57 other genes without patient consent. They state that it would be "unethical" to not report the finding of these genetic tests but what I think is "unethical" is fact that patients are coerced into genetic testing with little regard for obtaining their free and informed consent. It is also completely unethical that a patient has no right to opt-out of the testing of the 57 genes without declining all sequencing .The opposing authors also state that a patient may already have another disease, and notifying them about more genetic diseases might just add burden to their life. Furthermore, a patient should have the right to opt out of these genetic testing to avoid discrimination in the future. Confidentiality is very important in genetic testing because genetic testing gives an overview of an individuals inherent risk for a disease. Because of this power employers and insurance companies have been known to deny individuals essential health care or employment based on knowledge of genetic disposition. I would not want to be denied health care because I have certain genetic predisposing factors nor would I want that for my children. Every person has the right to be granted employment, benefits ,medical coverage and health insurance despite what their genetic makeup.

    On the contrary, I do understand why genetic testing is important in this day and age especially for the progression of science. Researchers need unlimited supply of data to discover cures and treatments for diseases. I also think its significant to test unborn children for genetic diseases so parents could have knowledge about their future child. Though couples are not forced to act upon any knowledge of risks, there is considerable social and health benefit to this. Through it all, it is essential that every patient receives an informed consent when receiving genetic testing because no one has the right to infringe a patients autonomy.

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  56. After reading this article, I can understand the importance in genetic testing and how helpful it can be in research as well as early diagnosis, however, I don't agree that they do it without the patient's consent. In relation to the article we read titled, "The Government Has My DNA!", the parents in it were not angry that the "government" had their child's DNA, they were angry that they did not give informed consent to the genetic testing that was done. So if the government could simply receive informed consent from the child's parents, they would be able to use the DNA however they pleased with any types of identification on the DNA. However, they would need to disclose information about any diseases that the child could be at risk for that they came across during their research. As a nursing assistant at Brigham and Women's Hospital, I have come to learn the importance of patients' rights such as HIPAA, as well as the right to know and to refuse treatment. I feel that there are some people who don't work directly with patients don't always remember that patients are humans too. They may be research subjects but not only research subjects. They cannot be treated as animals. After forming strong bonds with these patients, it hurts to know that there could be information being passed around about them that could be severe/life-threatening that they don't even know about. It's even scarier to know that I could be the patient/study subject in this situation without even being informed of it.

    ACMG says that the list of 57 genes to test without consent will continue to grow, but it should shrink, or stay the same length if anything. We shouldn't be losing any more rights as patients. With medical technologies advancing constantly and the medical world in general becoming so innovative, there should be new ways of easily informing/gaining consent so that this doesn't become any more of a problem.

    There are also problems between "consent" and "informed consent". Parents should be completely informed of what they are consenting to because sometimes they don't even know what they're signing off on. To do this, on consent forms, there should be a list of "highlights" or main points from the form highlighting the important facts that could really matter and make a difference in the short/long run. By doing this, people in general can have more of an idea of what they're signing off on and they can't use it against the government in the long run.

    All in all, I completely agree with genetic testing and helping out science and research, but not everybody does. For that reason, everybody should have a right to their own body and their own DNA.

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  57. I agree with the ACMG's view of mandatory notification of genetic testing results. While, it could be seen as an infringement on the ethical issue of informed consent, because parents should reserve the right to choose what tests are done to their children, however the child's autonomy is the most important factor. These tests are intended to provide early treatment opportunities and prevent loss of life, therefore are a good thing. I think that informed consent of these tests should be laid out as a standard. Patients should be provided with all information, including all potential benefits and negative consequences so that they can make a decision about whether or not to proceed with testing and keep their autonomy. In some cases, the results could lead to discrimination against an individual for health insurance and employment purposes, which is unfair. It could disrupt how someone lives their life as well. Knowing you have a trait that could lead to a development of a disease could change how you act. I think that knowing is important so that you can be aware of what could harm you in the future.

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  58. Genetic testing, as described by director of the Genetics and Public Policy Center, Kathy Hudson, Ph.D., is a rapidly growing field that is becoming more available, medically important, and complex (1035). This has raised the issue of how to regulate genetic testing in a way that encourages research and medical advancement, while upholding participants’ confidentiality (Hudson 1038). This issue is largely seen in future testing of genetic specimens or data sets of a participant that he or she did not initially consent to at the time of the original study. With a solid history in informed consent, and the advancement of privacy acts, I do not see a reason why consent is not obtained for future or alternative testing of genetic specimens or information. The topic then brought up is of the possible uses of such genetic research such as prediction of disease, prediction of drug effects, and uses in law enforcement (Hudson 1036, 1039). Even with these things considered, there are many reasons why a law should be put in to place regarding the future use of genetic testing. The issues that need to be addressed regarding such a law are how to obtain consent, how to maintain confidentiality, and how to eliminate genetic discrimination.

    These are all topics brought up in both Wolf et al. (2013) and reported by the University of Minnesota (2013). I have mentioned some topics we have discussed in class and some issues that need to be addressed regarding genetics testing. However, one of the most important take-home messages from these articles is about what informed consent is. As Professor of Biomedical Ethics, Ruth R. Faden, Ph.D. and Senior Research Scholar at the Kennedy Institute of Ethics, Thomas L. Beauchamp, Ph.D. stated that “informed consent in a research context is an autonomous action by a subject that authorizes a professional to involve that subject in a particular research endeavor.” I think that the important thing to point out here is that the subject is becoming involved in a particular effort in research. Without the option to refuse the testing of the 57 genes as mentioned in Wolf et al. (2013), patient autonomy in no way can be upheld.

    References
    Faden, Ruth R., and Thomas L. Beauchamp. "A History and Theory of Informed Consent."Patient Education and Counseling 12.2 (1986). Print.

    Hudson, Kathy L. "Genomics, Health Care, and Society." Ed. William G. Feero and Alan E. Guttmacher. New England Journal of Medicine 365.11 (2011): 1033-041. New England Journal of Medicine. Massachusetts Medical Society, 15 Sept. 2011. Web. 19 Sept. 2011.

    University of Minnesota (2013, May 16). Returning genetic incidental findings without patient consent violates basic rights, experts say. ScienceDaily.

    Wolf, S. M., Annas, G. J., & Elias, S. (2013). Patient autonomy and incidental findings in clinical genomics. Science, 340(6136), 1049-1050. doi:10.1126/science.1239119

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  59. All healthcare professionals must do everything with the patient’s best interests in mind, in other words, to do the most good and minimal harm. However, since situations vary from one patient to the next, what may be good for one patient is not necessarily the best for the next. Therefore, each situation should be considered on an individual basis, tailored to the specific needs of the individual in question. In addition to the principle to do no harm, medical providers must also work in the nature of nonmaleficence, the promise to do no harm. Not only should all actions be completed in the best interests of the patient, but medical providers, when possible, should avoid causing harm to the patient at whatever cost. Though sometimes harm is an unintended consequence of beneficence. I believe that patients should have the right to control what information they receive or don’t receive. No medical procedure should be done without some form of consent, whether it be by the patient or by another able-bodied surrogate. However, in situations where the patient’s life is at risk and the physician or medical professional is in possession of information that could alter the patient’s life for the better, this information should be disclosed. I understand that in some situations disclosing these “incidental findings” may cause the patient temporary harm, such as emotional distress, financial worries, in the long term the consequences will be beneficial.

    Yes, healthcare providers are legally bound to inform patients of all potential risks of undergoing a particular treatment. An underlying problem with this jurisdiction pertains to unknown or unforeseen harm to the patient. For example, imagine a situation where a doctor discloses all risks that he or she is aware of, relevant to the patient’s treatment option (assume the patient is not a minor and is psychologically sound). Upon obtaining the patient’s informed consent, treatment proceeds. After treatment, the patient is left with an unpredicted negative outcome of some sort: paralysis, blindness, speech disorder, etc. Who would be liable for the damages in this type of situation and would the doctor be considered to have violated the duty to disclose? In other words, should doctors be held accountable for collateral damage? Although this occurs in only a relatively small percentage of cases, it is an important matter to consider. In such a situation, I don’t think holding the doctor responsible would be a just consequence of his actions, for he/she abided by both the moral and legal codes of obtaining patient consent. Healthcare providers work diligently to prevent these kinds of precarious situations. However, as with all other facets of life, there are always unforeseen dangers and consequences in medical practice. Human fallibility, naturally, leaves opportunity for making mistakes in our thoughts and actions. It is important, for patients and doctors, not only to take the risks of treatment into account, but also to realize risks of the unknown.

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  60. After reading the article, I have to disagree with ACMG's recommendations. I understand that genetic screening can provide valuable information on prevention, management, and treatment of serious health conditions and diseases. However, I think that it is wrong for ACMG to say that "when clinical screening is undertaken for any medical reason, the labs must examine 57 other specific genes, and that the patient can't opt out except to decline all sequencing." This statement is unfair to the patient. I believe that as technological advances in science continue, it is crucial to also maintain patient autonomy and consent. I believe that the patient should have a right to choose genetic screening for only the specific genes he or she wants. For example, if a patient wants to be screened only for her risk of heart disease, then she should have the right to refuse additional screening for breast cancer. I can understand from ACMG's point of view how testing for multiple risks at once can be beneficial to a patient and potentially save his/her life. However, I believe that it is ultimately the patient's decision to decide whether he/she want to get the additional testing, and live with the possibility of additional consequences that he/she was not initially concerned about. For example, Wolfe pointed out in the article that someone may already be suffering from a serious disease, and that the additional genetic sequencing could turn out to be an additional burden to the already ill patient. In this sense, the genetic screening could have an emotional toll on the patient and add significant unwanted stress. However, if the patient understands the risks and provides his or her consent to the sequencing, then the potential consequences such as additional stress are perfectly ethical. In this case it was ethical because the patient made an informed decision to go through with the testing, and therefore, he or she must live with the consequences of his or her decision. The problem with the sequencing only develops when ACMG tries to undermine the importance of patient autonomy and consent. Genetic sequencing can still be a great way to improve healthcare as long as genetic sequencing does not compromise the right of patients to be rational beings who have the capacity for self-determination and self-governance.

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  61. When reading the article, the first thing that came to my mind was the medical ethics course I took last year in the fall of 2012. For awhile, we discussed the right of consent and informed consent and how that applies to genetic testing. Do the patients have the right of knowing? Physicians run into numerous complications when having to inform patients such as describing to them the exact condition/disease and what it entails as well as the possibility of needless worry. Although it is their legal obligation to provide the best options for their patients, it is thus within the hands of the doctors' decisions of what to inform and not inform to their patients.
    I believe that if a person does not want to be examined with the 57 other specific genes, the doctor should not have to. If a person believes that are at risk for a disease and want to get tested, they should definitely have the right to. However, if a person doesn't want to have certain genes tested for predispositions of diseases, they shouldn't have to. It is their choice if they do or do not want to know. There are people in this world that do not go through treatment for their cancer because they simply do not feel like they want to have their body endure that type of stress and struggle. Just like informing someone that they have a predisposition of breast cancer, that would add on more stress to their lives if they did not ask for it.
    I believe it is unethical for a doctor to withhold information from their patients if their patients have requested knowledge. However I firmly do not believe it is unethical for a doctor to forcibly, without consent, test for specific genes if the patient does not want to. We seek professional help when we want to, not because we have to. Therefore, people should not be forced to know what they do and do not have if they don't want to know.

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  63. After reading this article, I would have to disagree with the AMCG's position on informing patients and clinicians about susceptibilities in their genome. Like the article states, people battling advanced stages of illness and disease may be overwhelmed to hear such information, putting great mental strain on patients.

    What if, upon inspection of the genome, a susceptibility in a patient is found for which no medical treatment can cure? Is there really more good than bad being done in cases such as these? The serious mental distress placed on patients is incredibly immoral.

    Informing clinicians only is a more appropriate beginning stage. The clinician, who would most favorably be a primary doctor, is in the best position to know the impact of informing patients of such information. Another variable that must be accounted for is curability of diseases that are to be found in these genes. Again, as we look at all the variables to this equation, it becomes more evident that the emotional and mental health of patients must be maintained.

    There are, however, great possibilities in testing certain genes. If the information can be kept private (from the patient), then perhaps genomic diseases can be better understood--thus laying the foundation for curing, curbing, and preventing genomic diseases. Until the day comes when firm treatments can eradicate genomic diseases from a patient upon discovery, we should tread carefully.

    Even informing patients of what can be found by analyzing their genome, and giving them the option to request it or deny it, establishes great stress on the patient. I'd almost chalk it up to this scenario: "If you could be told when you'd die, would you want to know?" No patient should face such a "Pandora's Box." Yes, it would give you a timetable of when to get your affairs in order; what goals and milestones can be realistically accomplished--yet it also robs us of the human spirit. It takes away the strive to accomplish the ambitions, dreams, and excitement that each new day brings.

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  64. One thing to note is the issue of consent. There is a minimal level of informed consent involved in this process. Patients know they are being sequenced, but they do not know to what extent. The ACMG makes it so that patients have no choice but to subject themselves to testing for all these extra genes, and to receiving these results, or risk not being sequenced at all. While the ACMG stresses that it is unethical for patients not to know these results, it might actually be unethical for the ACMG to force people into knowing these results, as many people have already mentioned. There are two sides to this issue, and based on which lens you are viewing from, one is more ethical than the other.

    What I firmly believe in, however, is the necessity of such testing. There are definitely ethical issues surrounding this, but the resulting information is undoubtedly important for scientific understanding. What is problematic is the dissemination of this information. People worry about the privacy of their genetic information, but there has always been an issue regarding this. Just a few weeks ago, I had my blood drawn for a number of routine tests. They drew four vials of blood, more than enough to do the few tests ordered. However, I received a phone call not long after, asking me to go back to the hospital to get more vials drawn; they had “forgotten to conduct a few tests.” At that point, I was furious. They had drawn enough blood to conduct all the tests, but none of those tests were actually done. Where did all that blood go? What did they do with my blood, and all of the genetic information included? Blood is different from the genome, but the issue behind it stays the same. Things are bound to come up, and information will get lost: privacy issues will always be at stake. What I am trying to say is that testing is important, no doubt about it, but there has to be a decision regarding the destination of those results.

    Patients have a right to choose for themselves, and doctors are obligated to serve their patients. Patients may not know what is best for them, so it is the doctors’ responsibility to inform their patients. Therefore, information should always be available to both parties. What doctors must do is to help their patients understand what is at stake. They have a duty to explain to their patients the implications of their test results. These doctors should make it clear to patients what they might learn about themselves. In this, the ACMG has a point. It is unethical to keep things from patients when the information is knowingly available. However, we must allow patients to have a choice, because they had no choice in being tested. They should at least have a choice in whether they want to receive their results or not. It may be overwhelming, but this is the most practical approach. Just because you have not laid eyes upon the information, does not mean that the problems identified in that information do not exist.

    Here is how I would approach this issue: after testing is done and results are generated, an information “packet” should be produced to explain what genes were tested, and what these genes could imply. Doctors will receive this “packet” and pass it on to their patients. Doctors will inform their patients about the genes tested, and the information these genes could hold. The patient will then choose whether or not to have this information disclosed to them. If they choose to take the results, they are free to “keep” the packet. If they choose to not take the results, these “packets” should be backed up under a sealed electronic file with a short note on what kind of information is included. This way, if patients change their minds, they are allowed access to this information. This could also benefit children, who may want to know this information when they become adults. I understand that there may be privacy issues involved here as well, but I envision that this is a little “fairer” for all parties involved.

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  65. I believe with medical advances like these, I definitely feel individuals have a right to know about additional information regardless of whether or not they are at a risk for a disease discovered from genetic testing. With this being said, I also believe the individual also has the choice to decide not to have the additional information disclosed to them about the results from the genetic testing that does not pertain to the purpose of the original screening. As mentioned in the article, disclosing more information can only bring further emotional burden on the individual because the “patient may be already be battling another disease…or be late in life and see more burden than benefit in added genetic information.”

    An individual must always have a choice in how they want to go about their lives. If they want to be fully conscious of their body and wants to maintain a lifestyle that will help them live healthier lives, genetic screening is an emotional risk they would be taking to see how many diseases they have to battle out in their lifetime. However, not every choice comes with the results that they are expecting. I feel that knowing what your body’s genetic predisposition is is similar to knowing what is going to happen to you in the future. Although for some this may be appealing, clinicians should explain and go through the possible emotional consequences as well as other possible implications from this screening with the patients to make sure they are made well aware of what they are signing up for.

    Informed consent is the biggest criteria for genetic screening. Clinicians should make sure patients fully understand the procedures of the screening and explain to them what information can result from such testing, give options of whether or not they want the information to be disclose (as well as informing them what information can be discovered from the genetic screening and what implications it well have in the patient’s current medical condition).

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  66. The topic discussed in the article is an extremely complex one, and I am not quite sure that there is one correct answer. While most people have been agreeing with the experts, Wolf, Annas, and Elias, I skeptically believe that the stance that the ACMG is justifiable. If a doctor has access to genetic information and kept it hidden from the patient, I agree with the ACMG “that failure to report these findings would be considered ‘unethical.’” Especially when it comes degenerative genetic diseases like Huntington’s or cystic fibrosis, the patient should definitely be notified. This is not only for their own self-awareness, but for their potential children. If these patients are carriers of some type of serious genetic disorder and they choose not to be notified, they could pass on the disease to their children. Now, another human could have to deal with the progression of a terrible disease. In a way, I think that refusing to accept this information is somewhat selfish.

    My view on the genetic testing of infants is much more firm, as I believe that it be mandatory. While a parent’s rights over their child and very important, I do not think that all parents will make the correct decision. They could be sentencing their child to an unhealthy, or even shortened life all in the name of their pride. Also, if this testing were to become optional, I wonder if all insurance companies would still cover the cost. This brings up a whole new problem. Now, what if financially unsuccessful parents want the testing for their child and their insurance doesn’t cover it? Would they be forced into more financial turmoil? Or would they have to opt of the testing? While it would be nice to rely on all parents to make the right decision for their children, we unfortunately cannot do that.

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  67. It is useful to consider the four basic principles of medical ethics after reading this article. These basic principles are the right to autonomy, beneficence, justice and nonmaleficence. I find the ACMG's assertion "that a failure to report the findings (of the examination of the 57 genes) is "unethical"" to be flawed because it does not take into consideration the principle of autonomy. When a physician discloses genetic information to their patient without the patient's consent, it is absolutely a violation of the right to autonomy. The patient should have the right to decide whether or not they want to know information that has the potential to dramatically change their life. Though the doctor is likely trying to uphold the principle of beneficence (having the intent to do good for the patient) through disclosing the information to the patient, giving the patient life-altering information against their will could very well do more harm than good.

    The potential impact of disclosing sensitive genetic information must be seriously considered by the doctor, as it could cause psychological and social harm to the patient. The doctor has a responsibility to decide whether the benefits of telling the patient this information outweigh the costs. I believe that the doctor is not upholding this responsibility if they do not take care in making a decision to tell the patient genetic information without their permission. If it is not pertinent to the patient's immediate health, I do not think the doctor should tell the patient unless the patient truly wants to know his or her genetic information and is allowed to come to this decision voluntarily and free from coercion.

    Overall, I think that if physicians were to completely uphold the recommendations made by the ACMG, it would become a very slippery slope. If the ACMG continues to test patients' genes without their consent, the lines for obtaining informed consent could become blurry. If the medical community starts to waiver in upholding the ethical principle of autonomy, and the principle's associated right to consent, what is to stop other organizations from conducting studies without the patients' consent? What is to stop doctors from running clinical tests or performing surgeries on the patient without the patient's consent? These are the sort of questions that are raised when basic ethical principles are violated.

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  68. There is certainly no question that a patient has the right to refuse the performance of genomic testing for whatever reason in the first case because of patient autonomy. Second question is whether a patient has the right to selectively receive only a portion of the results of such testing. In its consent form, the consumer genetic testing site states that the client, once consenting to genomic testing preformed on his oral mucosa cells, does not have the right to refuse to be informed of any of the test results.

    Many patients, having given consent for genomic testing and the reporting of such results, will not have a firm grasp of exactly what he or she is consenting to.So the concept of informed consent, as I understand it, may not be relevant for genomic testing. It is often impossible to "inform" the patient of the potential significance of all of the information that can be measured and interpreted with a DNA sample. We need to replace the idea of informed consent for genomic testing with some new concept that takes into consideration that much of the significance of DNA testing, both now and in the future, is "unknowable" and therefore can't be consented to in the normal way to by a patient.

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  69. This comment has been removed by the author.

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  70. Despite the current and future advancements in genomic testing, I believe it will always be important to keep the rights of the patient a priority. However, after reading this article, I do understand why the ACMG suggests that the rights of a patient in regards to genetic testing may not be possible for many reasons. The ACMG implies that through obeying a patient’s right not to know, the laboratory and clinician will be faced with an ethical dilemma by withholding beneficial information to the patient or the patient’s family. As it is already, medical affairs become more complicated when faced with the ethical principles of beneficence and autonomy, but as genomic testing becomes more common, these two principles will collide even more than they had in the past.

    The clinician typically follows a principle of beneficence as they want to act in a manner that is beneficial to the patient. However, this becomes difficult when the patient expresses their right not to know. What does a clinician do if genetic tests reveal information that can predict a negative health outcome that will effect multiple individuals? This is where obeying the patients right not to know in circumstances dealing with genetic testing may become difficult as the clinician wants to respect the autonomy of the patient, but also prevent the future harm of individuals who share that patients genetic make-up. So when looking at this situation from the perspective of a clinician, I can understand why the ACMG suggests that upholding the rights of the patient in regards to genetic testing is not possible.

    Ultimately however, I, along with many individuals, view issues regarding patient rights through the perspective of the patient. When a patient seeks care they have to entrust many of their rights and privacy in their healthcare provider. If the patient’s rights are violated, the patient will be more hesitant to seek care as it would be believed that the healthcare provider could not be trusted. This is a main reason why many individuals do not seek healthcare. To prevent this issue with the advancements of genetic testing, patients need to be informed to every level at which their genetic material is being tested and have the ability to express their rights to know or not to know the results of those tests. I do believe though that clinicians should have a discussion with their patients regarding the risks for outside parties in practicing an individual’s right not to know with results of genetic testing.

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  71. During the course of this week, I have presented questions on this issue to many friends and acquaintances. After talking with them about the availability of this genetic information I tried to stress the positive aspects of such testing. My main focus was the potential for clinicians to intervene with preventative measures in a timely fashion. However, nearly every response I got coincided with the argument that the provision of such delicate information could potentially do more damage than good. If the results of genetic testing is forced upon an individual, regardless of whether treatment for many of these illnesses are available, this could cause a great deal of unnecessary stress on the patient.

    I think the patients who choose to opt out are doing so because they feel it is the best decision for them. With this in mind, it is undeniable that everyone should have the right to exercise their autonomy in decision making. Therefore, to force this kind of information on patients is unethical, especially in situations where there are very few treatment options for any diseases and individual may be at high risk for. Patients have the right to know this genetic in formation is available to them, but I stand firmly against the recommendation to provide the specifics of this information when the patient has not requested it. Whether or not the specific details of the results are disclosed to a person should be 100% their decision.

    If the genetic testing yields diagnosis for any diseases with available treatment options that could potentially save a life or increase the chances of a patient living longer with said interventions, I think the patient should be informed immediately. This is the only scenario where I think it is acceptable to forcibly provide results of genetic testing. If the disease is life-threatening and there are no treatment options, the patient should not be forced to hear about it.

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  72. My first thoughts on this article were reminiscent of our class discussion regarding newborn genetic screening and how long the state holds the genetic material for. This article also touches on how when a person is getting a genetic test, they must test for 57 other markers. This all or nothing testing seems a little extreme especially since the patient truly does not have a choice. When I am getting blood work done, it is only for the specific things that could be direct factors for the disease I am getting tested for. But I guess that goes along with informed consent. The patient knows and signs off that the doctors can test for all of he incidental genetic markers, but again, they do not really have a choice if they want to know what is wrong with them in the first place. This seems to me as a very backwards for of consent. Personally, if I were getting tested I would just like to know if I have any other mutations for diseases that are concerning, however, I know not everyone would share that sentiment, That is where patient autonomy comes in.

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  73. After reading this article I initially felt that the clinician should inform the patient about any possibly harmful gene mutations since knowledge is power. However, I can also understand why patients might not want to know about certain genes. If they haven’t explicitly asked to be tested for a certain mutation I see no reason for the testing to occur. In the case of children I especially feel that results of this unsolicited testing could be more harmful than helpful. This could cause some people to worry unnecessarily many years before a gene would even have the possibility of affecting them. I also don’t see a need to test and inform people of possible gene mutations unless there is a course of action for them to take after receiving this news. If the gene is easily be suppressed by medical intervention or there are preventive measures that can be utilized than it would be worth knowing about. Despite all of these factors I still do not feel that someone undergoing genetic testing for one thing should have to decide between getting no testing done and getting screened for 50 gene mutations. It should always be done at the patient’s request.

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  74. Vanessa Merta

    I do not think that scientists will ever be able to stop all side effects. Every human body reacts differently to different reagents so there is no way that pharmaceutical companies could account for this in the near future. Hopefully, as a patient you would want to improve your quality of life as best that you can, which means you would have to weigh the pros and cons of each drug and their potential side effect. You would think that for diseases like cancer and HIV the benefits of the drugs out weigh the negative side effects. Sometimes though, the life expectancy is so severely shortened by the ailment that the last few months or years are better lived drug-free, as the side effects of chemotherapy or similar drugs have side effects worse than the symptoms of the actual disease. This is a personal decision that patients need to make with their loved ones and doctors. I do not think there is some blanket answer that will make everyone happy. To some people, it may be more important to take the diet drug Orlistat (brand name Alli or Xenical) then to avoid the nasty side effect of loss of bowel control. To me, I’d prefer to be overweight than to deal with the possibility of that side effect, but I cannot speak for the whole population. To some, that may not be as detrimental as being overweight. In such a diverse population, we can expect opinions to change on this topic not only from person to person, but also from drug to drug.

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