So we can read our genomes. Now what?
The post-HGP (Human Genome Project) era has brought upon a new boom in genetic research due to the public availability of sequences at our fingertips. Despite many promising advances, many are impatient with the time that the HGP has taken or will take to bring upon potential clinical benefit for the health of the population. There are possible dangers associated with finding genes coding for diseases that are not yet curable, not providing any real benefit, but only anxiety in patients.
Based on this article and what we’ve learned in class and from our readings, what is your first impression of this article or sound byte? Do you think this will ever be a common medical practice? Now, think more critically, and discuss possible benefits and drawbacks of using this type of genome sequencing for clinical purposes if one day it does become affordable and readily available to the general population. (Think about privacy regulations, pharmacogenetics, discrimination, and genetic counseling to start.)
Click the link to access the NPR sound byte and associated article: http://www.npr.org/templates/story/story.php?storyId=126396839
I think that may people forget the even though you might have a gene linked to a particular disease it doesn't mean that you will actually develop this disease. The environment we live in today plays an important role on our biology. I do think this will be common place in medical practice if it becomes affordable, I do not think that will be in the next ten year though. If this does become affordable what if I find out I am at risk for numerous diseases but I am unable to afford follow up to treat these diseases?
ReplyDeleteI agree with what Tamika said about the importance of the environment in addition to genetics. I do believe it is important to understand the possible increased risk of diseases that one might have based on one's genetics. It will help people change their lifestyle and take the proper medication to decrease the risk of getting that disease; like the sound byte was saying about Quake and his increased risk of clogged arteries. Having his entire genome mapped out taught him that cholesterol lowering medication would be the best approach to avoid clogged arteries. However, there is always the issue of money and having one's genome mapped out is clearly expensive. But, from this article it seems that knowing one's entire genetic code could provide great benefits.
ReplyDeleteThe first thought that struck me was how quickly the price of the procedure is going down. Three hundred million to maybe less than $1,000 in about a decade? That's pretty amazing! It's also indicative of how much more likely it is for it to be used in the future if it becomes that affordable.
ReplyDeleteI agree with the two points that Tamika discussed⎯first, environment and behavior play a huge role in how genes are expressed (and not expressed). If genome sequencing reveals that a person has a genetic predisposition to a disease, or several diseases, the magnitude of the response is dependent on that individual alone. Some may feel more stressed, worried, and anxious and this in turn will affect them negatively. Others will adapt healthier behaviors and lifestyles so as to offset the occurrence of possible disease.
I think Tamika brings up a very important point regarding what comes next once the results of the procedure are known. In Epidemiology we discussed how the availability of treatment/care is necessary for any screening test. It would seem that genome sequencing can likely become a screening test (similar to cancer screening) in the future but there's a big question mark regarding the availability and affordability of treatments and/or counseling.
Lastly, the issue of eugenics comes to mind. Once genes linked to the expression of specific diseases/conditions/malformations are discovered, scientists will inevitably want to prevent these from occurring by attempting to alter the genome (possibly in utero). This raises many moral questions of whether it's right to do so.
Overall, I think the procedure would place a greater burden on an already strained healthcare system but I don't think it's necessarily a bad practice itself.
Suzann,
DeleteYour point about screening tests not being provided unless treatment or care for that condition is available got me thinking about the legal dilemma doctors and geneticists may be put in in the future. If a genetic test is treated as a screening test, and only genetic malformations that we know how to treat for are reported to the patient, then who becomes held responsible for the genetic dispositions made evident by the test not reported to an individual.
Is it ethically correct for a doctor or geneticist to withhold information about an individual's own genome? What if knowing that genetic information would decrease the quality of an individual's life?
I believe that these questions are soon to be raised in the courtroom, and I am more than curious to see how they end up being settled.
In reference to Suzann's comment on the issue of eugenics, that was definitely the first concern that crossed my mind. Despite the promising advances, there is a slippery slope concern. Genetic coding can definitely lead to selective abortion in which serious genetic diseases will be encouraged to abort and it can also be influential to directing mating patterns in which people may use genetic testing to decide who to mate based on genetics tests, family history, etc.
Deleteselective abortion
Further, this advanced knowledge may be used not only for the disease profile in order to prevent diseases, but but might lead to choosing the whole profile- eye color, attention, intellectual abilities, etc.
I agree with many of the comments above, this article definitely raises numerous concerns about legal dilemmas for physicians and eugenicists; and, as Kaitlin mentioned below, the issues surrounding affordability and availability. Although genetic testing raises many concerns, this is also an incredible scientific breakthrough that could be beneficial to at risk individuals. Using Quake as an example, although there may not be anything he can do about the history sudden death in his family, the information he received about his responses to drugs and his risk for coronary artery disease will improve the care from his physician and potentially his health outcomes. I was particularly interested in the pharmacogenetics part of this article and believe that the future of this field will really improve patient care and be cost-effective. The ethical questions that are being raised are valid concerns but I don’t think they should inhibit us from seeing the benefits that genetic testing could bring to health care and many individuals, particularly people at high risk for developing diseases or strong family histories. We have to believe that laws like GINA can remain firm and adjust (as necessary) as the field advances to protect individuals
DeleteTo add a personal anecdote, one of my best friends recently used genetic testing to determine his risk for Huntington’s Disease, a disorder that results in nerve cells in certain parts of the brain to degenerate caused by a defect on chromosome 4. His mother began symptoms at the age of 40. If it gets passed down, the onset of the disease is earlier for following generations. Knowing this, he decided that genetic testing was the best choice for him, although his siblings have refused to use this testing because they don’t want the added stress (as many people who posted blogs here mentioned) and just want to live their lives normally. This example is a little different since he was only determining his risk for one particular disease, not his entire genome, it is still relatable because individuals always have choices. I’m bringing up this story because to my friend, this information has been immeasurably valuable to him and the choices he makes as he gets older and exploring treatments. Also, he had a choice to receive this information, just as his siblings had the choice to deny this information. The Huntington’s Disease Society of America is holding a webinar presentation about GINA today called “How GINA protects YOU.” Spots are full bit if anyone is interested in the presentation and conversations, it will be posted in a week at www.hsda.org/gina.
This article was pretty surprising to me in that I didn't previously understand how much information could be learned from mapping someone's entire genome. I think it's pretty amazing that this man is now able to have so many details about what he is susceptible to, and also ways he can remain healthy longer. However, it is also a little alarming that so much personal information can now be found about through this process. I think this could potentially become a widespread practice within the next several years if the cost really does continue decreasing at such a fast rate as they predicted in the article. However, whether this is an overall positive or negative development is yet to be seen.
ReplyDeleteOn the one hand, allowing people to know their genome can save lives, preventing or at least slowing the development and/or progression of otherwise fatal diseases. It could also allow people to have a better understanding of their health and bodies and to have more control over their futures through this knowledge. However, this genome mapping could also lead to unnecessary stress. People may learn they have a mutation that could or will most likely develop into a fatal disease but may be powerless to stop it. As mentioned in the previous post, even if the disease can be slowed or helped by medicine, the person may not be able to afford the necessary procedures or drugs. This could lead to a widening in the already large healthcare gap between those who can afford care and those who cannot. Furthermore, even if the financial issues could be overcome, the universal mapping of genomes could potentially generate "too much" personal information that may be used or abused in any number of ways. Increasing demand for these services will also put a strain on the currently limited number of trained professionals able to handle it.
Overall, genetic mapping is an exciting and quickly developing new science but it needs to be used with caution and shouldn't be heralded as the ultimate answer to medical questions and concerns. Instead, it should be used with caution.
My first reaction to this article was complete surprise! I did not realize how far science and technology has come since the Human Genome Project began. I can see genome sequencing becoming relatively common practice in the field of genetics and medicine within the next two decades, and this ability to personally examine an individual's genome is mind-blowing. There is great potential in this field, especially for pharmacogenomics.
DeleteBut Kaitlin makes a good point when she discusses the potentially negative effects of individual genome sequencing. She mentions how there are possible financial issues that could arise and how the income/health care gap can widen considerably as a result of genomic testing. But delving even further into the potential negative effects of genome sequencing leads me to ethics. Aside from the stress that results from knowledge of a disease that will develop when the individual has no means to pay for prevention (or if there is no prevention for that matter), just how much do we really want to know about our genetic make-up? How far do we want to go? Is our ability to potentially predict diseases more terrifying than it is beneficial? Our ability to foresee future (health) events in our lifetime can be a great burden and I can predict much opposition from religious or political factions. To what extent should we leave it up to "chance", or can/should everything be predicted if we have the ability? These are very difficult questions to answer.
And on a similar topic, if in the far future we can discover what each gene on a particular chromosome is responsible for (e.g., hair color, athletic ability, disease, general build), then we potentially have the ability to select and/or modify our genomes. In previous classes, my professors have discussed the idea of "designer babies"-- a concept where in the future, prospective parents can elect to synthetically modify particular genes in their soon-to-be child. This is a possibility in perhaps our future that is related to human genome sequencing which brings up all sorts of concepts such as natural v. unnatural birth, the creation of a non-diverse nation, exponential growth of the human population due to eradication of disease, etc. It's a bit of a stretch to think about now, but it has been discussed in my Health and Human Rights class and undoubtedly relates to personal genome sequencing.
Just thought I'd bring up some ethics questions to add to the discussion!
Similar to Yara I was also a little bit surprised as well. In the article Greely says "I think the information can help people live better, but it won't do it all by itself." I completely agree to some extent because I definitely think some people will take the data well and realize that if they have an increased risk for heart disease that they will go to the gym more or eat healthier. But I also feel that some people who might even be more genetically inclined to be depressed or have more pessimistic personalities will take the data negatively and maybe have a more negative outlook on life. They might see it as if they are at risk for all these different diseases what is the point. For Hypochondriacs this might not be the best option for them because they might feed on the information and consider every this itch or painful feeling a result of their cancer or other disease.
DeleteYara and Kaitlin also bring up good ethical points about how far should someone go. If we are able to know all these things about our genes will that affect how people mate or even their decision to have children? How they will have children, naturally or in vitro?
Also we don't know all the diseases out there. People are always evolving and what if one gene that affects one thing suddenly changes? What happens then? I definitely think this could lead to a lot of anxiety.
And as Tamika said in the beginning environment plays a big role in how things play out. Just because you are at an increased risk for a certain disease does not necessarily mean that you will get the disease. But I think knowing that you are at an increased risk will affect peoples decisions in life, what they do and how they do it. I feel like people would constantly be worried that one certain action could trigger the wrong gene and they will get all the diseases/illnesses that they are at risk for. I think people would live in fear to some extent waiting for the day that they go to the doctor and they are finally told about how they do have cancer or that they do have heart disease.
And as mentioned before by Tamika, not everyone will have the resources to seek help even if they realize that they are at risk for certain things. Maybe you would like to eat healthier but you don’t have fresh fruit markets by your house and only McDonalds. What if you would like to go to the gym more but you cant afford to, or it’s too far from you house, or your neighborhood isn’t safe enough for you to go to the gym and get back late at night.
Like Suzann, I agree that this procedure would place a greater burden but not necessarily a bad practice within itself. And I definitely foresee this becoming common practice.
Caroline Booth:
ReplyDeleteThis article was very intriguing. I find it incredibly exciting that one can sequence their entire genome. However, it was definitely also pretty daunting and some what overwhelming. I think it is really easy for one to become confused very quickly with the plethora of information they receive from having their entire genome sequenced. I'm honestly not sure if it will ever be a common medical practice. I suppose it probably will be because our world is evolving so readily and things we believed could never happen (like walking on the moon) have now been obtained. So I would say that sequencing one's genome will probably at least be available to the general public and used in medical practices within the next ten years. Of course once this happens, there will be enormous controversy and numerous possible problems. Depending on how expensive it is once it's readily available, insurance may or may not cover it. This will automatically cause discrimination against people who either don't have insurance or who's insurance plans will not cover the expense. Also, not many people know a lot about what their genome is and what it means. Even scientists are still researching and learning about it, so the general population has even less knowledge and would probably feel very confused when given their sequence. They might not know what to do with the information. And how would the results be presented? Would patients just get a long sequence of letters, or would the results be organized into which diseases they have or are at risk for and what genetic benefits they have? The patients will most likely need some kind of counseling and/or explanation of their sequence and what they should or should not do in the future.
Of course there would be many benefits. Just like Steve in the article, some patients could find out what they are at risk for in terms of diseases. They could also reveal which medications work best and which won't work at all in their bodies. That information is extremely helpful for physicians to know. However, I'm not sure if these benefits would outweigh the risks of people becoming increasingly worried about their health and when they will die and of what. Also, who gets to see this information? Is it entirely up to the patient to decide who to disclose their sequence to, or do doctors and insurance companies get to see it too? Because of the Acts that are in place already today, I'd assume that the patient's sequence would be protected and private for just their eyes unless they wanted to show it to their doctor, but no one can be certain.
Overall, I think genetic sequencing is a very interesting idea. I'm just not sure at this point if our population is ready for the various issues it brings up involving privacy, cost, and how to interpret the results.
Also, I also agree with Tamika about the fact that just because you have a genetic predisposition to a certain disease does not guarantee you will actually get the disease because of many other environmental and external factors (like where you live, what type of health care you receive, and your lifestyle).
- Caroline Booth
My initial reaction to this article is that being able to map your entire genome may be entirely overwhelming. When thinking more critically about this topic I also agree with Tamika that one may not develop a disease based on genetic mutation. I think that genome mapping will become a common practice as it becomes less expensive, I also think that this may be a great thing for preventative medicine. As long as genome mapping remained private and was unable to be used as a form of discrimination I think it could be a great way for people to take control of their health.
ReplyDeleteI think it is inevitable that this becomes common medical practice because at the very least, it can provide very valuable insights into conditions that are preventable. One could prevent these conditions by changing their lifestyle or getting recommended medical devices implanted. At the very most, we will have the ultimate conclusion of preventative medicine. It could eventually allow doctors to treat any and all potential conditions in a single treatment, which would be relatively cheap compared to the price of treating the aftermath of each condition separately. Until then, however, we face the issue of knowing what may take us in the end. Since doctors already predict a patient's future conditions through lifestyle assessment and family history, though, I don't see genomic sequencing as being radically different. It only allows doctors to be specific and accurate in their predictions.
ReplyDeleteOn a related note, if genome sequencing does become a regular part of one's medical record, it should be kept out of the hands of everyone who doesn't currently need that medical record. I think it could provide relevant information to those who currently have it. However, if your insurance company is allowed to see it, I think they would have to implement radical changes in the way they do business. Otherwise, their policies will surely discriminate against those with an increased risk for conditions as they do against those with pre-existing conditions.
In any case, I'm just hoping they shed some light on some more functions of non-coding DNA.
I found an article going along with what many people here are already saying: the lifestyle and environment can actually cause changes in the genome.
Deletehttp://www.huffingtonpost.com/2008/06/18/changing-your-lifestyle-c_n_107913.html
I think it's a double sided coin. On one hand it will open up doors for those who develop health problems and when early intervention will be able to help them, but on the other hand the stress and anxiety that may come with knowing that you have a incurable disease in your future is hard to take. This will become common practice if the cost of sequencing will be covered by insurance agencies. Benefit would be an world that is more healthy.Also the knowledge to be able to understand people with immunity to certain serious diseases and use that information to develop vaccine for it. Drawback someday the population will skyrocket since people will be living for a much longer time and maintaining a healthy living conditions, food supply and much more will become difficult.
ReplyDeleteI disagree with Veronika that this could lead to a healthoer world. Biologically if people choose to or can afford to seek help or get early intervention…people might get healthier. But not everyone is educated in genomics or even has a TV or computer to know whats going on. Not everyone will have access to this information or even the right resources. And even if someone does find out that they are at risks for a number of things it doesn't mean that they will actually do anything about it. I kind of think it might lead to a mentally unhealthy world. I feel like people will constantly be worried of what's going to happen and WHEN they are going to get a certain disease instead of preventing it or working to help themselves stay healthy.
DeleteBut I do think you brought up an interesting point about how the population would skyrocket if people did maintain healthier habits and seek action to prevent the risks from taking place.
I agree that this could create more inequalities in regards to access to health insurance and who can afford the technology. However, if we think about how this new information could be utilized on a population level in terms of public health interventions and not just on an individual level there could be different outcome. For example, if a certain ethnicity was found to have a common gene mutation that caused them to be more susceptible to a certain disease or illness, a large-scale effort could be put into place that would benefit an entire population of people, rather than just an individual. Allowing a large number of people to see that they all share this mutation could empower them to work together in doing whatever they could in reducing their risk factors.
DeleteAs Caroline stated, making sequencing of one's genome available to people will discriminate against those who do and do not have insurance. As a huge supporter of Obama and the Affordable Care Act, I am hopeful that most of the changes set to occur by 2014 will indeed occur. As more and more people are covered, a greater amount of people in need will be able to get the proper diagnoses and care they need.
ReplyDeleteIn agreement with Steve Quake, I believe that in having one's entire genetic code spelled out, "the information can help people live better." First of all, as stated once again in the article, mysteries of sudden death can be solved by looking at mutations in genes for example. Revealing the causes of unknown problems could lead to a better understanding of many of these unidentified occurrences. And although much of the news may be bad that people receive, sometimes "genes yield up information that you can do something about." Of course this requires people listening to what they are told, but in many cases, performing the directed treatment can make a difference. This seems to be worth a shot. Regardless of the anxiety caused to people, the harm of an unknown disease or disorder (often the end result being death) is far more detrimental than the anxiety it will cause. Treatments and medicine are improving everyday, and there is no doubt in my mind that solutions to these mysteries could continue to be solved by taking a good, close look at one's genetic code.
- Michelle Padreza
My first impression of this article and sound byte was a combination of surprise and awe. My background knowledge of the Human Genome Project and genomics is extremely limited so I was surprised by how expensive it is to map a person’s genome and how quickly the cost is decreasing. I was also in awe of how detailed and extensive, as well as incredible, it is to think that it is possible to complete such an undertaking. I am still almost in disbelief that it is even possible to do such an incredible task.
ReplyDeleteI think that because of the current cost of mapping a person’s genome it will definitely take a number of years before genome mapping becomes a common medical practice, however I think we will get there. As genome mapping continues to be done and the price continues to decrease I think it will eventually become integrated into the healthcare system. The shift from treatment to prevention has been so significant, and I truly think that once the price is lowered genome mapping will extend the prevention model even further, such as when Quake’s genome mapping demonstrated which medications he will respond well to. There is sometimes a trial and error period when people are trying out new medications. Genome mapping would allow people to get the medication that is most right for them the first time, decreasing waste of medications that are not finished, and lowering insurance costs as well, in addition to the benefit to the individual person and their health.
I think there would be both benefits and drawbacks of using this type of genome sequencing for clinical purposes. Genome mapping would benefit individuals, such as Quake, by allowing them to understand more in-depth their own bodies and genes, giving them the knowledge to make changes that may be necessary and easy to implement. I tend to always believe that education and awareness are vital for progress to occur. Having more information about risks and choices a person can make will give that person the opportunity to choose whether or not to make those changes. I also think that understanding how medications will affect a person’s body and which medicines would be work best with their body is extremely important and may decrease cost spent on medications (not having to buy other ones if the first does not work), lower insurance costs, and decrease adverse side effects and morbidity. The availability also gives people who want this option the ability to have it. People who do not want to have their genome mapped will not, or should not, however, this should not hinder people who do or prevent them from potential medical benefits.
There are obviously potential drawbacks to having genome mapping widely available. The information may be frightening to people, especially if no current treatment or therapy exists. The information may also create issues with confidentiality, which may extend into the realms of jobs and insurance companies, as well as discrimination. It is important for the government to protect the ability of science to progress, while also protecting the rights of the people not to be harmed or discriminated against. As long as the necessary safe guards are put in place to protect people’s privacy I think there is nothing wrong with genome mapping, however, it is contingent on the rights of people being protected.
Overall, I believe that genome mapping and genetic counseling are important in medical care and are necessary. Certain risks do exist, however, those in charge (government, IRB’s, etc) need to ensure the safety of the information and the protection of the people, and the regulations need to evolve with science and be re-evaluated as the science continues to change, in order to protect individuals.
-Allison Manfreda
I agree with Kristely in her comment about the entire population not being aware of even what genetics in. I'm not going to lie, before I entered this Genomics class, I did not know what the class was really regarding. Obviously, I knew that it has something to do with human genes but I think we, as science majors, understand a lot more about genetics than the general population. I think that unless we educate the population about how genes interact with the environment and how they influence disease, knowing a person's entire genome sequence might not be as helpful as we had previously imagined.
ReplyDeleteI believe that ethicist Greely has a valid point. If we do not know the entirety of what a human genome can tell us, we should not offer to the public the option of having it sequenced. In addition, we must outweigh the pros and cons of having a person's full genome sequenced. Here is a list of my pros and cons:
Pros-
1) We can understand disease better and a person's predisposition to certain diseases that they may be able to prevent
2) We can see how a person will react to a certain medication, just like Quake saw through his results
3) We can compare genomes between families and communities to see how environment might play a role in genes being "turned on and off"
Cons-
1) The ethical dilemma: Do we really want to know what diseases we are going to get? Do we really want to know that we could have the possibility of sudden death at some point in our lives? Do we really want to know exactly how we are going to react to certain medications, environmental factors, etc..?
2) We could stir up anxiety about future health problems, especially those without cures.
3) Expensive, takes too much time, insurance most likely won't cover it
After taking medical ethics, I do not believe that examining the entirety of our genome would yield positive results at this point in time with the technology that we have. I think that privacy is a big issue that could be breached by employers and health insurance companies, especially if there is predisposition for a severe illness in the future.
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ReplyDeleteDespite ethical concerns, I really think that it's only a matter of time before sequencing genomes became a normal means of detecting potential diseases in health care. The thought of being able to avoid potential diseases could be helpful not only on a personal level but also on a population level. If used appropriately and developed in the right way, this advancement could be of tremendous help to the public health. For instance, one could easily determine how he or she would react to certain drugs by simply getting his or her genomes spelled out. By doing so, one could save a lot of money and avoid potential side effects.
ReplyDeleteHowever, with innovative medical breakthroughs such as genome sequencing come great dangers and potential abuse as well. With these concerns, it will be interesting to see if genome testing will be covered by insurance. It will be also interesting to see if people would even change their lifestyle according to their tests because even if one found out one's risk for potential diseases, it does not always mean that they will respond accordingly to their test results.
Another danger to exposing one's predisposition for diseases is the potential discrimination in the job market. I can see how an employer might not hire someone based on their genome sequencing results.
Like Quake says, it takes courage to get your genome spelled out. But, it will take even greater courage to continue living once one finds out their genetic risk for a serious disease.
I definitely agree with the point that Michelle made about how an unknown disease can cause greater harm than knowing what disease one might be prone to. There are still a lot of mysteries that need to be solved especially in the field of genetics and there are a lot of benefits to being able to spell out people's genome in the long run. For one thing, by examining people's genomes we could potentially permanently eliminate certain diseases.
-Sophia Pascual
Sophia I think you raise a really interesting point about job discrimination, which reminded me of other potential cases of discrimination individuals could face. What if gene sequencing is required by insurance companies and therefore insurers could offer lower rates and better cover to individuals with healthy "genes". What if its standard before marriage for individuals to share their genomes to see if they are good mates?? The world could change drastically due to exposure of genomes. Now of course I am talking extreme scenarios, but it is defiantly a possibility.
DeleteI think overall gene sequencing is an excellent solution to help combat the rise of chronic diseases and help public health officials better deliver care. I think there should be a way to only test for certain diseases which pose little risk of discrimination or side effects...whether that be to the individual/employers/insurers. The results of a genetic test can captivate a person's world, making one obsessive with risks, side effects, and diseases. It takes away from the natural path of life and adds unnecessary worries to daily activities. BUT it does help people...I think there is no right answer YET and time and technology will better help solve the issue.
Julie Goldberg
There have been quite a few people who have expressed concern about the stress and anxiety that people will have after learning of their predisposition to a specific or a myriad of diseases. This "unnecessary stress" topic worries me the most because numerous studies show that individuals with elevated stress levels have much higher chances of falling ill in comparison to those who are less stressed - so albeit that genomic research could be helpful in allowing one to find out whether he/she is likely to succumb to disease, it seems that the stress from learning about being predisposed could possibly make the illness more likely to occur.
ReplyDeleteThere is another concern that I have, but this focuses more on the pharmaceutical industries. Yara mention above, "There is great potential in this field, especially for pharmacogenomics". I could not agree more - but I have to say that I don't think it's always going to be a "good" potential. One of the biggest problems we face in the US is cost of healthcare, and pharmaceutical companies don't exactly help in this battle, since they make drugs far more expensive than in many other industrialized countries. I fear that once genetic research becomes readily available to all, each and every person will become more and more dependent upon drugs that realistically may not help. Currently, this is already a policy concern for me because of the high cost of pharmaceuticals - if the market opens vastly in the direction of pharmacogenomics, pharma companies will have yet another way to cash in astronomically.
If genetic research becomes the next big thing, I pray that there is a large support group set up for those individuals who find out that they are highly likely to fall ill - especially because of the way Quake referred to it as not being something that everyone could handle well. I also hope that policy is implemented to allow those who seek pharmaceuticals to get the drugs they need without going bankrupt!
Janaki, I cannot agree with you more about the issue of the amount of extra stress that will be created if people learn about their predispositions to diseases. We already live in a society where we try to find all the solutions to our problems in a pill, and I think the combination of more stress and awareness of predispositions to disease will increase that mentality.
DeleteAlso, even if the costs of genome sequencing is reduced, I think it will widen the gap of healthcare inequality even more. Even if an individual can afford the genome sequencing, one can only imagine the absurd costs for the follow up drugs. Ultimately, there will be those who can afford the whole process while others cannot, thus increasing the gap of healthcare inequality.
In light of the new ethical questions raised by widespread genetic testing, I agree with Allison that there is no easy solution but that genetic testing may be beneficial. As long as the protections of the ACA, GINA, and other laws remain strong, people will be able to get genetic testing without fear of reprisal. (Of course, the ideal situation would be some form of national health coverage or health insurance so the results of genetic testing would not affect health security). While we may one day be able to screen all children at birth, we are still many years from that point. In the meantime, it may be beneficial (and ethical) to focus on genetic testing for those who may be at risk. For instance, Quake has a family history of sudden death and is thus a perfect candidate for genetic testing because of the dangers posed by a possible condition. Based on those results, he and other people at risk for certain diseases or syndromes could be helped by genetic testing; at the very least they would be able to anticipate looming medical issues. At this stage of technological development however, people who have no such family history or presence of concerning symptoms, a genetic test would likely be expensive, unnecessary, time consuming (genetic counseling as mentioned in the article) and needlessly frighting.
ReplyDeleteI definitely agree that pharmacogenetics is a major part of the article and the future of genetics. But I might have to disagree a bit with Janaki. Though I agree that health costs are unnecessarily high and pharmaceutical companies do play a role in this, the ability to target medications to specific people with specific needs or susceptibilities may actually improve appropriateness of care. One of the things that struck me most about the article was that there were several parts of Quake's genome that could be helped by some basic medications. At the same time, there are probably people who may be susceptible to high cholesterol who receive little benefit from such medications. Knowing individual positive and adverse effects of medications could significantly improve a clinician's ability to find the best and most cost-effective treatment pathway.
I think the whole genetic sequencing issue is very interesting, because there are several benefits that are easily understood, but many other dangers that we need to take into consideration. For example, terminating a pregnancy on the basis of genetic diseases or "undesirable" traits that we may be able to identify. Also, how long will it be before we are producing cookie cutter babies, or choosing traits, almost like the character creation in "The Sims"? Some might argue that humanity would never allow this to happen, but it is unquestionable that, as a result of popular media, a widely accepted opinion regarding the concepts of "beauty" or "success" or "desirability" has been created.
ReplyDeleteOverall, I support genetic sequencing as a screening and treatment option, but the corollaries of genetic engineering and other "cosmetic" options bring up concerns, and they will continue to do so (for me) until I can trust the human race to allow evolution to continue as per usual without genetic interference except in the most clinical of cases.
Initially, upon finishing this article, I was both surprised and intrigued by the potential of genome sequencing. The ability to find out not only what diseases one may be at a higher risk for but also which medications will be most beneficial in treating illness and to lower those risks at first seems like an amazing medical advancement that will only increase the overall health of the population. But when looked at more closely, the potential of genome sequencing is very similar to any newly implemented medical technology for with its benefits comes costs and even the success of the program will strongly depend on the desire of the people to accept it. As shown with the sequence of Steve Quake's genome, even though he is given all of the information he could need to maintain his present and future health, it doesn't mean he will do everything that is recommended or even necessary to do so. Therefore some might argue that being given information does not always change behavior and one's health will proceed the way it would have with or without the genome sequencing. And also, the idea that one's ability to have this amount of information and ultimately improve their health if they chose to do so, will again come down to one's ability to pay for it, creates unfair advantages related to socioeconomic status.
ReplyDeleteOverall I think that genome sequencing can be an important tool in medicine but it is not going to be one that is needed by everyone. Genome sequencing will be very helpful to map the genome of a family that has shown throughout it's history to be at high risk for devastating disease, such as Steve Quake's family and the sudden death mutation, but the general population will not need such genome sequencing for we have been able to improve our health and increase our longevity long before the creation of the genome project and thus will be able to continue to do so without it.
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ReplyDeleteMy parents always told me, with regards to my never-ending question of "Why?", that "what you don't know won't hurt you." My first reaction to this sound byte and article regarding genomics and genetic testing is that, do we really want to know our predispositions to diseases and conditions, before living life? In media around us, we always see people who want to live their lives before receiving a mountain high pile of bad news regarding their health. If I were in that position, I would rather never know about my genetic predisposition to a certain disease, rather than live a life of stress, worry, and anticipation for the worst. A few of my peers (Allison, Dana, Janaki) mentioned this stress and undue burden that would be placed on patients. I couldn't agree more that scientists should thoroughly explore if the knowledge of a disease that is years away for a patient is really worth the stress and worry.
ReplyDeleteBefore attending our first class, I honestly was a little confused on what genomics really was. I was aware of genetic testing and the capabilities of science today, but had never given much thought to the affects of genetic testing on society in general. This class instantly reminded me of the movie, Gattaca (1997), where people are genetically designed and facing discrimination on a daily basis because of their genomes. Even though the genome project is currently solely for research purposes, I can't help but think that we are possibly heading in the wrong direction. If genomic information becomes accessible to all, we run the risk of judging people not by their looks or academic credentials, but by their genes!
The way science is progressing amazes me, however it scares me all the same. If having a genome sequenced could cost just as much as an MRI in three years, and if insurance begins to cover the testing theres no telling to what individuals can find out about themselves. Where do we draw the line? How much is too much information to be giving to a patient? Should people live their lives with constant knowledge of what's to come concerning their health? It seems almost cruel to take the innocence of not knowing a certain outcome away from people. If for example someone finds out that they are almost certainly going to have a life threatening illness within 5 years, should those 5 years be accompanied with fear of the future? Its hard to say which is better, to know or not to know. I believe every case would have to be judged on an individual bases, but that in and of itself will take a lot of specialized man power (to make the decisions - what to tell patients, and what to leave out). Would making the sequencing of our genomes so readily available save more lives than it will destroy?
ReplyDeleteMy initial reaction to this article is that genome mapping is currently a luxury. $24,000 is a significant amount of money for, what I would gather to be, the majority of Americans. Additionally, if someone is an active participant in their health status after the genome sequencing, there will likely be additional health care expenses, such as new medication and follow-up appointments. In my opinion, it currently only makes sense to pay for this service if you are able to account for future medical expenses.
ReplyDeleteAs the cost of this service is expected to continually decrease, certainly genome mapping will become available to more and more people. I beg to ask the next question of how the health care system will support the effects that genome sequencing will have on the American public. Based on the current status of the health care system, I find it hard to believe that the system would be able to support the public both financially and infra structurally. My hope is that the health care system is much improved before genome mapping increases in popularity.
-Nina
I totally agree with what Nina has to say, at this point in time genome mapping is definitely a luxury. Those who are mapping their genome now are those who can afford it, and therefore will be able to afford any additional health care expenses that come with knowing their sequence.
DeleteI feel that, regardless of the fact that the cost of genome mapping is decreasing, the only way that it will become common medical practice is if health insurance covers it. Again I agree with Nina that the current health care system needs to be improved before genome sequencing becomes common medical practice.
I personally do not believe that knowing your personal genome is the best thing. As the article states, much of what one finds out from their sequencing is bad news; such as mutations linked to sudden cardiac death. In that case, someone who may be able to enjoy their last years of life may expense extreme stress and worry about their genetic mutation.
The discovery of genome sequencing is certainly an amazing accomplishment and proves that our society is on the verge of great medical advancement. However, after previously taking a class about ethics in medicine, I wanted to bring up a few topics that we discussed about the dangers of genome mapping. First, as has been previously mentioned by a few people, the personal stress caused by the results of the test could be severe. Especially since the test does not guarantee that a person will develop a certain condition, it can lead to psychological issues for that person or his or her family. While I will not discount the use of the technology as a prevention method, my ethics professor argued that in more cases than not, the results of test would cause psychological harm instead of leading to successful preventative treatment. Another psychological topic that we talked about was the relationship between the parent and child or the child and his or her siblings. The parent may be inclined to treat the child differently if the results show a higher chance of certain conditions. A parent could "baby" the child and subsequently neglect his or her siblings. This could ultimately cause tension both between the child and the siblings and/or the parent and the siblings. Genome mapping could also cause the parent to become ashamed of the child according to the results of the test. This could of course lead to a wide range of child abuse and neglect. Although genome mapping is an incredible scientific advancement, it is important to be cautious with the testing.
ReplyDeleteAnother important ethical point that has been touched on previously is the question whether a test should be offered if the financial or technological infrastructure cannot support the (potentially extensive) treatment after diagnosis for ALL participants, not just those with health insurance. When designing a screening test, one should only offer it if appropriate follow-up is available to the patients - for example, it could be considered unethical to do screenings for high blood pressure in a village in Peru if the villagers are not given 1) their results, 2) information on how to interpret those results, 3) education on how to improve their readings (this component should also include treatment), and 4) follow-up screening to ensure decreased blood pressure levels. To simply inform someone they are sick (or predisposed to be sick, as in the case of genetic testing) and then not offer assistance to alleviate their problem would be unethical and even cruel.
DeleteMy other concern with this article is that once given the information about their genetic predisposition to particular diseases, people will not necessarily follow through with the recommended treatment steps to improve their health. Quake is a prime example of this, as he has not gotten on statins or started taking baby aspirin despite the fact that his test proved he would benefit greatly from these measures. If someone with a scientific understanding of this undertaking cannot even take advantage of this information, would it be worth the cost of a test/counseling/psychological distress to make such determinations about people who are even less likely to understand, follow through, and benefit?
After reading this article, I was surprised by the advances that have been made in genetics. To think that one’s entire genetic makeup can be sequenced is an interesting and scary thought. The article discusses the many benefits that can come from this technology. I agree that it is good to know if you have a genetic predisposition to a disease and that it is beneficial to know what medications will and will not react well with your body, but like it was stated by others genes are not everything. The environment and lifestyle also impacts diseases and health outcomes. Even with these benefits, I think that there are greater risks that can come from genetic sequencing. Like many have said above, knowing exactly what genes you have and what illnesses you can possibly (but not for certain) have can be very dangerous and stressful.
ReplyDeleteThe issue of eugenics was also mentioned. This raises ethical questions as well as poses the issue of discrimination against those that already have disease, possibly raising the question of whether or not they are less valuable and worthy to society.
I think that in the years to come this technology will be made available to the public for those that have the money to pay for it. In regards to affordability of the procedure, I agree with the point that Nina made about the additional health care expenses that will arise from the resulting follow-up procedures. Even if the procedure may become affordable for a minority of the population, health care bills have a high potential of increasing drastically for those people as well. I think that this procedure, as it becomes more available to the general population, will increase the gap in health disparities between the rich and the poor. This will happen naturally since there will be a large part of the population that will be at disadvantage because of financial burden. Another issue that may arise is the distinction between treatment and enhancement and to which end this procedure lies. This will determine whether or not genetic sequencing will be insured and ultimately the affordability of the procedure.
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ReplyDeleteWhat I found most interesting about the article was Quake’s response to his own genetic testing. Even though Quake found out that he could benefit from statins and baby aspirins, he still did not change his behavior. This then made me think about current health behaviors today. While it is clear that exercising, eating healthy, and not smoking are effective protective factors towards health, many people still do not follow these recommendations. Why then would genetic testing make a difference? We all know that we are at some risk for cancer, stroke, and heart disease. Why would a test make us change our behavior? I do think that the field of pharmacogenetics will yield major benefits from genetic testing. Medicine will be more effective and tailored for individuals but I also believe they will become more popular. Americans are always looking for the “quick fix” and this is why individuals are typically much more likely to take cholesterol or blood pressure medication instead of changing their diet or exercise patterns. The use of genetic mapping will only perpetuate this phenomenon by having individuals take medicine tailored towards their genetic make-up and not concentrating on environmental factors and personal behaviors.
ReplyDeleteNina and Natalie mentioned the idea of genetic coding a “luxury.” I agree with them and am worried that genetic mapping will only increase the health disparities between rich and poor. Wealthier people will be able to read their genetic code and get proper medicine and care for their particular genetic make-up while others will not have this opportunity. It is scary to think that the gap for access to care will most likely only widen in the future.
While I agree that significant ethical issues arise with genetic testing, I think there is a tendency for us to underestimate the abilities of the patient. Just because Quake did not change his habits doesn't mean that others won't. A few posters are implying that genetic testing will not be effective because, as seen in society today, people do not change their habits based on new information. However this is not always the case. Take smoking for example. In 1955, about 42% of the overall population smoked and in 2007 that number was down to just over 20% (CDC). These numbers indicate that as new information about the dangers of smoking arose, fewer individuals continued to smoke. It is true that not everyone follows their doctor's advice, however it is clear that many are making the effort. I don't think that should be overlooked. Furthermore, even if people like Quake don't make the change, information should not necessarily be withheld. We get weighed and get our blood pressure checked every time we see a physician regardless of whether or not that physician thinks we will improve our behavior.
ReplyDeleteI agree with what many are saying about healthcare disparities between the rich and the poor. However, this disparity already exists and technology will always be moving forward; withholding genetic testing won't keep the gap from growing. If disparities are to be reduced, the entire healthcare infrastructure needs to change (and that's a whole other discussion). Meanwhile, I think that if a certain test is available and one has the means to afford it, they should have the ability to do so. In fact as the technology progresses, it is likely that, cost-wise, the benefit of earlier treatment will outweigh the cost of the test itself.
I think the biggest ethical issues, as others have mentioned, involve confidentiality and the possibility of eugenics. Though laws like GINA claim to protect individual genetic information, they do not cover everything and there are bound to be loopholes. How can we control who receives our genetic information and what will be done with it? One poster expresses concern over parents treating their children differently because of their genes. I think this is just the tip of the iceberg. Imagine a world where those beyond just our families -peers, employers, college admissions, etc- judge us based on our genetic information. It is a scary thought.
The idea that your entire genome can be spelled out still sounds like a science fiction story to me. You can learn so much about yourself, but as the article said, “much of the news you get is bad.” How should you act on this news? Personally, I do not think that I would really want to know to what diseases I am predisposed… at least not yet. It is important to have specific regulations in place that adequately protect you, before genome sequencing becomes a common medical practice. Other than GINA, what other privacy laws are in place, and how much do they encompass? If a person wishes to learn more about his genes, the information garnered should not effect future employment or academic opportunities. However, knowing certain information might also significantly affect one’s social life. It is important that future health services provide individuals with proper psychological support in order to process some of the sensitive and difficult information that is sure to surface.
ReplyDeleteAdditionally, a number of ethical and moral questions arise. How do you tell a person they are predisposed to a fatal disease? What if there is nothing you can do about it? Do you tell them? (Such as with Steve’s case and sudden cardiac arrest). Issues such as eugenics and selective breeding also come to light. It will be interesting to see how the medical community will manage this sensitive subject, and how much control individuals will have as well.
Katharina, I felt the exact same way after reading the article. It is amazing how much you can learn about yourself, that you almost don't even want to know. How is one supposed to receive the information that they will die at a some-what specific point in their life time, and there is nothing that can be done to prolong it. We all know we will die eventually, but it is the uncertainty of how, when, and where that keeps us at ease. Also in response to Matt, I took the same ethics course, and I agree that upon receiving so much information, there is the possibility of great psychological pain as a result. For example, people can start to question how they have been living their lives, and how they want to live the rest of their lives, and any regrets that may come of it. Out of fear, the patient may end up living in a sort of "bubble", scared that their genetic predisposition may come into play at any moment. I feel someone would have to go into this situation with a certain type of mentality, in order to process the information they may receive about their own genome, whether the news be bad or good, and with a plan about what they will do with whatever news they receive.
DeleteI also agree that with genetic profiling, issues in the use of genetics will come into question. Again, as I learned in ethics class, there are a fair amount of moral/ethical problems that are seen. With the availability of eugenics and selective breeding, we could basically re-creating the human race to what we would consider basically perfection. No one wants there to be any "problems" for their child, but then what does that say about those who are living with certain genetic diseases in the world now? What does that also say about the value of life? We were meant to enter a world of natural selection and Darwinism, but those could essentially be eliminated, or set at a whole new level, if eugenics and selective breeding was put into motion.
After reading this article, I realized my knowledge about the Human Genome is very limited. I did not realize how far we really have come. This is of course a huge break through for medicine espcially because genetic testing is becoming more and more affordable. With more people being able to get their genome tested, doctors are going to have to brush up on their genomics and do training which costs money. I really do not know where I stand on this one because it seems so beneficial because over time we will be able to prevent certain diseases and save lives but like Erika and Katharina I also see the issues with it.If we do genetic testing on people and find diseases we cannot cure the anxiety that person will face knowing they will die from that disease is just too much to bear. I liked Asma's quote that what you don't know can't hurt you because its true espcially when someone has a disease that does not affect them for most of their lives but shows up later in life. Also if parents get testing done on their babies they may learn things that cause them to shelter their children too much. The whole idea just seems so unnatural and I think it will actually do more harm than good.
ReplyDeleteThe NPR article is interesting but as many advantages as the prospect of full genetic sequencing has, there are many potential problems with it becoming an affordable and widespread practice.
ReplyDeleteThe greatest advantage I see in it is that people can learn what their risks are for health problems and disease susceptibility. People can use this information to adjust their lifestyle to minimize their risk of contracting potential problems, while doctors and researchers can use information to develop and tailor treatments specifically for individuals. Genetic sequencing can indicate what types of medicines a person can better metabolize or are more sensitive to, so better classes of drugs can be developed as well.
However, as others have mentioned, I am concerned with some potential problems widespread genetic sequencing can have. Widespread genetic discrimination could take effect, and full genetic mappings could be required for consideration to obtain health or life insurance, and possibly many other things such as employment. A related issue would be who would manage, store, and have access to a person's genetic information, and how transparent this process would be. Would people have ownership of their genetic sequence and be able to control who has access to it? Could they opt out of such a system? Would laws guarantee privacy for people and their genetic information, and prevent discrimination based on genetic knowledge? In an extreme case, this could turn into the movie Gattaca, in which even social standing and classes were based on the quality of one's genes.
The potential scientific benefits are great, the social implications are vague and potentially terrifying.
After reading through my classmates posts again I decided to try and find out more information about the current costs of genome sequencing. In the below link you can find an article about a company named Illumina that now offers complete genome sequencing for $5000 or less (I'd paste the article here but I don't want to violate any copyright laws, and a subscription to the website is free!). The company has already received orders for over 1000 samples of DNA since its launch in July of 2010! Clearly the popularity of having one's entire genome sequenced is gaining popularity as the sound byte suggested. By 2012 the company hopes to lower their costs to below $3000, which they predict will "drive it into the clinical market." I am curious to see just how the medical field responds to this increased knowledge that many healthcare professionals have not been trained to interpret.
ReplyDeletehttp://www.genomeweb.com/sequencing/illumina-lowers-cost-whole-genome-sequencing-services
-Katelin Blackburn
[PART I] I think it is inevitable that this genetic technology will become widely available and accessible in the coming years as many of my classmates have asserted. But I think I will approach this issue a bit more cautiously and suggest that just because we can, doesn't mean we should. Certainly there are benefits that can be derived from such detailed and personal knowledge, as is demonstrated from from the recommendations that Quake received in light of his genetic information (i.e. to take statins to lower cholesterol and baby aspirin for protection against heart attack). However, in thinking about the sensitivity of this type of information that could have broad legal, social, medical and lifestyle implications, I think we really need to engage in a serious cost-benefit analysis as consumers and as future health care professionals. Given that most of the information obtained from mapping one's genome is bad and there is little that can be practically done to treat or prevent the ominous diseases and mutations that may be hiding in our genetic codes, perhaps we should not be as eager to decode it without knowing exactly what we are getting into. I do not mean to suggest that we should not further scientific research in this area, as I can imagine a future where have developed enough information to be able to treat and/or prevent diseases that our genes indicate we are predisposed to, but in the meantime, I'm not so sure that I will be rushing to get my genome mapped out.
ReplyDeleteWith the current state of human genetic mapping and the information it can provide, I'm not sure that the benefit of learning that you might be predisposed to having high cholesterol would outweigh the cost in terms of finances, privacy and the potential for misuse of such intensely personal information. I think the potential for abuse and misuse of such information is understated, even with laws like GINA that are intended to protect us from discrimination based on genetic information with regards to health insurance and employment. As referenced in "Genomics, Health Care and Society" there are a number of loopholes in GINA, including that GINA does not cover life, disability or long-term care insurance, does not prohibit medical underwriting in some contexts and does not apply to certain segments of society (i.e. federal employees, Indian Health Service members or military personnel/veterans).
[PART II] Furthermore, with the push towards increasing efficiency in the health care system by implementing electronic medical records, I think the potential for abuse of genetic information - which could eventually be readily accessible as part of standard medical records - is becoming increasingly troublesome. There are many people in a hospital-setting who have access to view personal medical records including administrators, physicians, medical residents, nurses, billing and claims managers etc., and with such sensitive information potentially being available in a medical record or on an electronic health information system, I imagine that many people would be uncomfortable with this. Although GINA promises to protect us from health insurance and employment discrimination, I would argue that readily accessible, detailed genetic information can present a number of other threats that we remain unprotected from, or at the very least, may provide us with more information that we wish to have in some cases. Perhaps we don't want our families, spouses or children to know that we are going to get early on-set alzheimers disease and no longer be able to remember them. Perhaps we don't want to know that we have a mutation that is likely to result in death before age 50. Perhaps we don't want to know that if we reproduce with our spouse that our offspring will have a debilitating disease. My more optimistic side hopes that perhaps we will someday desire to know these things because we will have figured out a way to treat them or prevent them from occurring all together. But until then, I will not be rushing to get my genome sequenced just because I can.
ReplyDeleteThe first important thing to notice about this article is not only the advances being made in medicine, but how easily supply and demand can also affect the medical field. The fact that the price of this went from 300 million to 48k within in 5 years in amazing. Although this may not be necessarily a good thing, making this an everyday affordable examination could cause this to become a requirement. Insurance companies will be willing to spend money, if it means that it will be able to tell them what their patients may be at risk for and what drugs the patients reacts effectively to thus making sure the most effective treatments are used so that medical care per person is reduced. Although that is an advantage, there is also a disadvantage and that comes when considering such things as life insurance, if a life insurance company where to evaluate your genome when taking into consideration your policy it could affect your the cost of your premium or even acceptance.
ReplyDeleteMy second concern is when it comes to the pharmaceutical industry. As previous people have mentioned in this thread, treating patients will become more cost effective, but it will also make the field much more commercially driven. New drugs will be made to target genes more effectively. Companies will target certain populations where certain conditions are popular and promote their drugs. Something must be done so that companies cannot have access to everyones genetic information, because then we must consider the greater probably of targeting, such companies targeting expecting mothers and offering medications to help their children for possible genetic diseases. Also if companies were to find out about what diseases are popular what is to prevent them from creating this "Miracle Drug" or "Do it all drug". There are systems in effect that may help prevent such things but as we have seen in history there is always room for error.
There is great possibilities behind this, but there is also a high risk for failure. Even though this is an amazing breakthrough in science, and the price is becoming more affordable one thing we must take from this article is that science and medicine is advancing much more rapidly than we are ready for. As of the moment doctors, facilities, and the system itself is not ready for the demand this can create in many areas, but also for all the services that are going to be needed once this is put to work.
My first impression of this article is that it is amazing and exciting how far science has come and how much it allows us to do. At the same time, it is also scary how much information we can find out about ourselves by having our genomes sequenced, and how rapidly this technology is progressing. I do think it is only a short amount of time (a few years) before genome sequencing—and the use of the genome sequence in clinical settings—is routinely offered at the same cost as something like an MRI. (I was interested to learn some more about genome sequencing and its implications; I found a short clip in which a man named Richard Resnick provides some additional insights: http://www.ted.com/talks/lang/en/richard_resnick_welcome_to_the_genomic_revolution.html ).
ReplyDeleteAs the article about Steve Quake indicates, we now have the ability to sequence people’s genomes and find out what diseases people are at risk for. This ability carries both benefits and drawbacks. For some diseases, such as heart disease, there are steps that people can take (such as medications, lifestyle changes) to reduce their risk of disease. If people know they are at risk for certain diseases, perhaps they will invest more in preventive care and, in turn, lead healthier lives. However, just because people can take action does not mean that they will; Quake is an example of this. I think this is a really interesting question: If people know that, based on their genes, they are at risk for a certain disease, and they know that they can take steps to reduce their risk, will they actually do them, considering that the potential rewards of doing so are not immediate? Another issue is that treatment options may be out of reach for some people; for example, people may not be able to afford medications that may be beneficial, or counseling may not be available. For other conditions, like sudden cardiac death, there is really nothing that can be done to reduce the risk of developing those conditions. What happens in these situations? Furthermore, as others have mentioned, we have to consider the psychological and ethical implications of using genome sequencing to determine disease risk. In terms of psychology, knowing that you are at risk for certain diseases can cause stress and anxiety. In terms of ethics, what happens if a clinician sequences person’s genome and discovers significant information, but the patient never comes back to get that information?
Another issue is that if we are going to use this technology to determine disease risk, we have to have trained professionals to provide counseling. We can’t just tell people what their genes say; as Greely points out, people need to understand what their genetic information means and how to deal with this information. This is where genetic counselors and clinical geneticists come in. However, as Greely notes, we have only a relatively small number of such professionals in North America today, and genetic counseling is time consuming. If genome sequencing becomes common medical practice, the need for genetic counselors and clinical geneticists would place a burden on the health care system, which is already strained.
(continued)
ReplyDeleteSome of the other possible benefits of using genome sequencing for clinical purposes lie in the areas of pharmacogenomics. As Sami mentioned, we can determine what medications will and will not work for people based on their genes. We can use this information to provide people with appropriate care. Another benefit is the ability to use genome sequencing to find mutations that can help explain a patient’s symptoms. In turn, this information can be used to determine appropriate treatment. For example, Richard Resnick discusses a case in which twins were diagnosed with cerebral palsy. However, their symptoms did not quite fit with that diagnosis. They had their genomes sequenced, and they were found to have mutations in a gene involved with serotonin production. They were thus prescribed serotonin precursor drugs, which helped to resolve their symptoms.
One drawback of genome sequencing is the potential for discrimination. As Richard Resnick points out, we may start to judge people (for example, a presidential candidate) based on what their genes say about their disease risk. We may focus on disease risk, and may overlook what positive qualities people have to offer, for example, intelligence. Fortunately, we have some protection against discrimination—GINA protects people from experiencing this kind of discrimination in the work place. However, there are still other areas, such as life insurance, in which people are not protected against discrimination based on their genomes.
On a final note, I have been reading The Omnivore’s Dilemma, and I think that something that I read in that book is very applicable to this situation. The book talks about a chemist who discovered which elements in fertile soil are crucial for plant growth. Once that information was known, people began manufacturing synthetic fertilizers containing those elements. Given these synthetic fertilizers, plants did grow, and in the short term, the fertilizers increased the amount of crops grown. However, in the long people, began to realize the consequences of using synthetic fertilizers, such as plants that are less nutritious and more vulnerable to disease. Essentially, a chemist reduced the fertility of soil to a few chemical elements, but in fact, soil’s fertility is due to much more than those three elements; it is a complex biological system that forms a complex relationship with plants. The moral of the story is that we have to recognize the complexity of biological systems; we have to be careful of reducing biology to chemistry, and be careful of how we manipulate the information that we do know. With the Human Genome Project, we have unlocked our DNA—we have determined the chemical sequence that forms the blueprint of life. However, humans are complex biological systems, and genes are only one part of us. As others have mentioned, we have to remember that diet, behavior, and environment impact gene expression and our health. As we move forward in the post-Human Genome Project era, I think it is important to remember this, and we have to be cautious with what we do with the information gained from sequencing human genomes.
(continued) I think that another possible benefit of using genome sequencing for clinical purposes lies in the area of pharmacogenomics. As others (Sami, Dana, Allison…) have mentioned, we can determine what medications may or may not work for people based on their genes, and use this information to provide people with appropriate care. An additional benefit is the ability to use genome sequencing to find mutations that can help explain a patient’s symptoms. In turn, this information can be used to determine appropriate treatment. For example, Richard Resnick discusses a case in which twins were diagnosed with cerebral palsy. However, their symptoms did not quite fit with that diagnosis. After having their genomes sequenced, they were found to have mutations in a gene involved with serotonin production. They were thus prescribed serotonin precursor drugs, which helped to resolve their symptoms.
ReplyDeleteOne drawback of genome sequencing is the potential for discrimination. For example, as Richard Resnick points out, we may start to judge people (for example, a presidential candidate, a job candidate) based on what their genes say about their disease risk. We may focus on this information, and may overlook what positive qualities people have to offer, such as intelligence. Fortunately, we have some protection against discrimination—GINA protects people from experiencing this kind of discrimination in the work place. However, there are still other areas, such as life insurance, in which people are not protected against discrimination based on their genomes.
On a final note, I have been reading The Omnivore’s Dilemma, and I think that something that I read in that book is very applicable to this situation. Once a chemist discovered which chemical elements (nitrogen, phosphorus, potassium) in fertile soil are crucial for plant growth, people began using synthetic fertilizers containing those elements. Given these synthetic fertilizers, plants did grow, and in the short term, the fertilizers increased plant yields. However, in the long run, the synthetic fertilizers led to negative consequences, such as destruction of soil fertility and plants that were less nutritious and more vulnerable to disease. In essence, what happened was that a chemist reduced the fertility of soil to a few elements, and people believed that entire mystery of soil fertility had been solved. But in fact, soil’s fertility is due to much more than those three elements (however important they are); it is a complex biological system that forms a complex relationship with plants. The moral of the story is that we have to recognize the complexity of biological systems; we have to be careful of reducing or simplifying complex biology to chemistry, and be careful of how we manipulate the information that we do know. With the HGP, we have unlocked our DNA—we have determined the chemical sequence that forms the blueprint of life. While genes certainly are crucial in determining who we are and our state of health, we cannot overlook the role of other factors. Humans are complex biological systems, and as others have mentioned, we have to remember that diet, behavior, and environment interact with our genes to affect our health. As we move forward in the post-HGP era, I think it is important to remember this, and we have to be cautious with what we do with the information gained from sequencing human genomes.
Just the title of the sound byte says it all for me, "Genome Seen As Medical Crystal Ball." I think the highlight of the 21st century, and the majority of our adult lives, will be this fascination we, as a society, have with medical technology's perceived ability to unlock the secrets of our physical existence. Medicine is no longer a mere response to conditions, but a way for us to actively intercept what we deem as undesirable conditions. The scope and significance of genetic information in this quest to discover in minute detail the makings of the human body is still just as uncertain to us as it was 20 years ago. If anything, the biggest contribution the Human Genome Project has made is to force us to rethink the very way we have come to understand ourselves. Genetics has disproved race as a biological fact, it has amplified the importance of a good environment as a prerequisite to good health, and in time it is showing us that genetic information cannot be acted upon without ethical considerations in many cases, which becomes another issue on its own!
ReplyDeleteDon't get me wrong, I think the Human Genome Project has a great deal to offer us, but the context through which we analyze the importance of the information we gather from our genes is colored by our existing social structures, which are flawed in many ways. So, a public health perspective on genetics may face many roadblocks in it's quest to improving the health of entire populations.