Sunday, March 18, 2012

Could Heart Health be related to Gender?

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Could Heart Health be related to Gender?

Two out of every three heart disease patients is male. A new study in the Lancet says that the Y chromosome may hold the key to understanding why men are more frequently plagued by heart disease. There is a cluster of genes that can be one of two variants on the Y chromosome, each referred to as a “haplogroup.” One of these groups causes a 50% increased risk of heart disease compared to the other one, independent of other factors. This may be why some of us know family members or friends that smoked and ignored their cholesterol did not contract heart disease.

The author suggests that a genetic screening test will be developed for this Y chromosome gene cluster, however more studies need to be done to prove the connection between this gene cluster and the increased risk of heart disease. Do you think a genetic screening test will be developed? How would this be similar to BRCA1 and BRCA2 genetic screening? How will it be different? What effect will this have on clinicians and their treatment decisions?


(Thank your fellow classmate for this article!) 

33 comments:

  1. I believe a genetic screening test can be developed if further research is done to find which specific genes are responsible for increasing mens risk of heart disease, but for now, the findings seem very vague.

    In comparison to the BRCA1/2, testing for a heart disease gene can lower the risks of individuals by helping them take steps in prevention. For example for BRCA1/2, women with the gene are able to remove their breasts in an attemtp to lower their risks for cancer. In this case, men would be able to lower their risk of heart disease by changing their diet and quit smoking. The article mentions that even those who do watch their diet and not smoke, still develop heart disease so this may discourage people from seeing the significance of changing their lifestyle.

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  2. Veronika SychevskayaMarch 18, 2012 at 10:56 PM

    I think that the relationship between the gene cluster and heart disease is still in not confirmed. I agree that not enough testing has been done on the Y chromosome and its effects, this could be why women have more non fatal diseases since their extra X chromosome would act as a protective factors against many diseases.

    If the gene is identified then their could be a similar test like BRCA 1/2 though with this disease it is more difficult to treat since a heart can not just be removed, only preventative medicine might help. I do not know what clinicians would do since it has been a long time till BRCA testing and treatment has been understood and this would be the same. Just like Elizabeth is staying hopefully that this testing would not discourage being healthy as the primary way staying overall healthy.

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    1. I agree in terms of heart disease being far more difficult to treat compared to breast/ovarian cancer. Nonetheless, I found this article very interesting because we always learn that cardiovascular disease is the most prevalent in women and men alike, but the possibility of it being influenced by a specific cluster found more so in males is new yet very intriguing.

      Similar to any new speculations about a potential cause for a disease, there will obviously need to be tons more research and evidence to support this claim. In short, as promising as a screening test may be to encourage people to take more preventative measures upon getting positive results, I feel like it should already be a concern and we all ought to make a forward intentional effort to do the simplest things to prevent heart disease on all accounts, regardless of whether or not there is a screening and/or regardless of whether or not screenings show us to be positive for the cluster indicative of a risk for heart disease.

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  3. This new development seems to be very promising and certainly has the potential to be an incredible step forward in terms of genetic achievement and preventative medicine, but it seems that developing a screening test is perhaps overly forward-thinking at this point, given that the association between the gene cluster and heart disease has still yet to be confirmed. As the article points out, there is still A LOT of work that still needs to be done to understand this possible relationship and even more that needs to be done if that relationship or possible association is to be transformed into preventative screening measures or clinical guidelines to address heart disease in men. Certainly, these are good things to think about and are the ultimate goal of such research, but given the vagueness of the findings at this point, it seems there is quite a ways to go before we reach a screening test.

    In comparing a possible screening test for Y chromosome related heart disease to the BRCA testing, I think this is actually quite different because so far, there is little that we conclusively know that we can do to prevent heart disease. Surely eating right and exercising are advisable, but as the study points out, many people that eat right and participate in active lifestyles are plagued by heart disease and many people who don't do either of these things somehow never develop heart conditions. Clearly there is more to this than we understand at this point. But given that there is no conclusive evidence that anything can be done to prevent heart disease in men who have a particular Y chromosome trait associated with heart disease, a screening test may not be all that useful right now. With BRCA testing, we know that there are preventative measures that patients who test positive can undergo to reduce their risk of breast/ovarian cancers (i.e. masectomy etc.), but heart disease seems to be a bit more multi-faceted and a bit less well-understood. In thinking about the cost-benefit ratio of developing a screening test, perhaps developing a screening test should wait until we can do something effectively to prevent disease when a person tests positive. This is not to say that we should not seek to develop screening tests, especially given that heart disease is one of the leading killer of Americans, but such a test would not seem to be overly useful if we don't have an effective means of addressing the problem of heart disease after the test.

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    1. I couldn't agree more with you, Michelle. There are so many other factors other than chromosome that have to do with heart disease. My worry about having a test for heart disease is that those who test negative for having the gene variant may be more risky in their life decisions and can still develop heart disease. In addition, people with the positive gene variant may be overly cautious about their life decisions and may live their lives in constant fear of developing heart disease.

      In addition, the fact the confirmation of these Y chromosome playing a role in the development of heart disease shows the need for much more research on this topic before a test can be used for screening purposes, doctors can administer this test, and insurance companies will cover such a test. If a test does end up coming out for this gene variant, I believe that, like the BRCA 1/2 genetic testing, there need to be guidelines for those who should and should not be tested. In addition, there should be a warning to those who test negative that they may still be at risk for heart disease despite this negative test result.

      Finally, what I have learned in my sociology of healthcare class is this: heart disease in men is much more diagnosed but when investigated more clearly, women die from heart disease just as much men do. In fact, women can come into the ER with the symptoms of heart attack and will still not be diagnosed because of health disparities related to gender. This is something that also must play a role when we screen for a condition such as this. Should women be tested to? Does it necessarily have to do the Y chromosome? Hormones? Much further research and questioning will be necessary beforehand.

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    2. I agree with Michelle and Dana that so many other factors matter in proposing a broad gender-based connection between a chromosome and heart disease. Just the fact that genetic research has ignored the Y chromosome for so long thinking it was only responsible for determining the male gender, and now it is proving to be influential in illnesses shows us the level of gene interaction we are overlooking!

      I think the current stage of this research project is too early to tell if a screening test is necessary/feasible. Not only that but as Michelle mentioned: what kind of support do we have for people who might test positive? Plus, the article makes me wonder about the external validity of the study if they only looked at British males; how widely applicable are their findings?

      Lastly, to compare this with the genetic testing available for the BRCA 1/2 genes is highly premature at this point. A 50% increased risk is as good as my guess about my chances of dying of a heart attack...that's not convincing enough evidence for me to rely on a medical test for.

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  5. I agree with Michelle that there is still a lot of research that needs to be done before a screening test can be made. As the article mentioned, researchers need to replicate this study and the individual gene in the cluster that is causing the increased risk for heart disease still needs to be determined. However, once more research and progress has been made in this area, I think genetic screening will be developed. Since heart disease is the leading killer of women and men, the continued research and and possible screening test could have a huge impact if preventative measures can also be determined. As Michelle said above, this is different than the BRCA1/2 test because we don't have definitive preventative measures - as different individuals have different results with lifestyle changes.A screening test would impact clinicians and their decisions because they could start looking for risk factors earlier in individuals who test positive for the gene cluster and monitor those individuals. Unfortunately, with the information we have right now for preventative measures, I think this might cause more harm and worry for patients until more effective options exist.

    Also, I think it's important to point out that even through heart disease disproportionately affects men more than women, research can't stop in searching for any genetic factors that affect women's risk for heart disease as well.

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  6. The previous posts make some really great points. Michelle talks about how developing a screening test for the cluster of genes on the Y chromosome would be different than BRCA screening because preventative measures for heart disease are not quite as definitive as those for breast or ovarian cancer. However, I can see some similarities between BRCA screening and screening for this Y chromosome cluster. First of all, one particular gender is being targeted here (males rather than females as in BRCA screening). If the presence of this gene cluster has been detected, perhaps some males would practice more healthy behaviors and take precautious measures. Also, men who do not have this gene cluster may be falsely lead to believe that they are "safe" from heart disease (some women still need to understand that a negative BRCA screening test does not mean they have a 0% chance of having breast cancer). Screening for this gene cluster is somewhat similar to screening for BRCA, but no defining preventative measure can really be taken (such as removing ovaries or breasts before the onset of cancer). Thus, I feel that costs of the test would outweigh benefits, at least at the moment. MUCH much more research needs to be done in order to draw any significant conclusions about this gene cluster and its affect on heart disease risk.

    Here is another article that describes the same study but goes briefly into a little more detail about this gene cluster:
    http://www.nlm.nih.gov/medlineplus/news/fullstory_121717.html

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  7. Since there is no confirmed association between the gene cluster and heart disease risk, I do not think that a genetic screening test will be developed any time soon. Even with further studies and research, I do not think that a screening test will be created unless there is a cure or treatment available. Creating a screening test would be unhelpful and potentially harmful to the men who would be found affected, since there doesn’t seem to be a way to prevent their heart disease risk. Preventative measures seem pointless if someone cannot choose or prevent which gene cluster they have. Affected patients would worry needlessly that they would develop the disease or that they would not be able to do anything about the situation. As Veronika mentioned, you cannot remove the heart out of a man who has the gene cluster like breasts for women who have the BRCA1/2 gene. Therefore, until there are treatment decisions available or will be available in the near future, I think that clinicians and their decisions will not be affected for now.

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  8. I find it interesting that research on this topic wasn't conducted sooner. The second X chromosome that females posses has already proven to be protective among other diseases and disorders therefore it is shocking that these questions and studies are just arising. Although more research needs to be done in order to better understand the specific genes within the clusters that may be directly correlated with heart disease I think that scientists and researchers are off to a great start. This is new research and just like any new research there are doubts and things that need to be looked into more, but I do believe that if researchers are able to find specific genes linked to Heart Disease than they will be able to develop screening tests similar to the BRAC1/2 tests. I also think that it is beneficial for scientists and researchers that the BRAC1/2 gene test already exists so that they can use this past study to further the study at hand. I agree with Elizabeth that if a screening test were developed that it can be beneficial to those who are carriers of the gene by helping them practice preventative care.

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  9. At this point, I do not think this type of genetic screening will be developed. This was one research study done and I (along with many other doctors who spoke about the study) believe that this is not enough sufficient evidence to support a screening test. The BRCA 1 and 2 gene testing is very well studied and understood. The results of these tests are pretty definitive and actually show people their true risks of developing a life threatening disease like cancer. Some people may not see heart disease as as much of a risk as cancer in terms of fatality. This is hard to distinguish between because it depends how one looks at these two diseases. Some may believe heart disease is more avoidable with lifestyle changes, but then again if this gene cluster really does raise one's chances by 50%, does lifestyle really matter as much? That's another thing. This screening test (if ever developed) proves that if tested positive, the man has a 50% chance of developing the disease. The BRCA 1 and 2 gene screening test tells a woman that she has a 80-90% chance of developing breast/ovarian cancer (I know I'm not getting the numbers exactly correct here, but the point is that the woman's chance of having a fatal disease is much higher and therefore supports a screening test more than the Y chromosome gene cluster does.) If a screening test were to be developed, then physicians would need to be educated on how it works and when to recommend it to their male patients. This would take a lot of time and money (another reason I don't believe it will be developed any time soon). Basically, there is just not enough evidence/proof that this gene cluster really gives men a 50% greater chance of developing heart disease. I do agree with Kristen though and find it strange that this topic wasn't looked into sooner. If males have always had a greater risk of heart disease, someone should have been doing research on the Y chromosome before now. Hopefully more research will continue to be done, but at this point a screening test is not warranted.
    - Caroline Booth

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  10. I agree with Caroline when she says that she doesn't think that this type of genetic screening test will be developed soon. Based on what the article says, there seems to be a lot of work ahead of these researchers. Until researchers know which individual genes in the cluster are responsible for the increased risk and until they know why the genes have this effect on males, then it will be a while until a genetic screening test will actually be developed in the future. Testing the cluster of genes on the Y chromosome wouldn't have the same effect as the BRCA1/2 genetic screening test because there wouldn't be a definitive and concrete answer as to whether someone has the risk or not. It would be too broad. As for the BRCA 1/2 genetic screening test, there is a specific gene being looked for with a yes or no answer given to the patient as a result. Along with that, there are also clear preventive measures that can be taken in order to help the patient with the BRCA 1/2 gene. So until more evidence is shown that proves that the cluster on the Y chromosome has a true effect on a male's development of heart disease, then a screening test will not be developed just yet.
    This will have a positive effect on clinicians and their treatment decisions because they will be able to conduct early intervention and treat the patients before the problem because more severe. Just by determining whether or not one has the gene cluster, some action can be taken prior to something serious happening in the future.

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  11. I think it's important to point out that it's a 50% *increased* risk of heart disease and not a 50-50 chance. While the chance of getting heart disease in this country is still relatively high, it is certainly not a 50-50 chance even with the gene in question. I think it's also important to point out that there are medications that can likely be used as general heart disease preventative medications, such as blood thinners, medications to lower cholesterol, and medications that reduce the amount of fat the body digests. Major diet changes such as calorie restriction have also shown promise in preventing and reducing the precursors and effects of heart disease. These regimens can at the very least prolong a person's life even if they have the gene in question. It is certainly worth it to know they have a predisposition before any further damage is done to a person's coronary system by a Western lifestyle.
    In any case, I do agree that there is much to be done until we can develop a definitive screening test for heart disease. In reality, one does not develop heart disease out of nowhere: it is almost completely a disease that develops through what you put into your body, whether one has a predisposition or not. I think the victory over heart disease will have to come from education within the family and raising children with good lifestyle habits.

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  12. I agree with many of my classmates above who mentioned the concerns about the actual protective measures that can be taken given positive results to a hypothetical screening test. We've learned in class how important the social and anthropological factors are in rationalizing genetic screening tests, above and behind the science behind these tests.
    I do think, however, that this is an encouraging study. Researchers have identified the gender differences in heart disease, which supports findings for genetic factors on the Y chromosome. And since heart disease is the number one killer of adult men (and women), there is very justifiable reasoning for pursuing a genetic test for heart disease.

    It's hard to look at a potential genetic identifier like this, knowing that one of the only preventative measures is behavior change, and hope for a real reduction in heart disease related deaths --- considering that these life style changes are beneficial in all aspects of health and are already known to reduce mortality. So if you can't convince people to change their habits given the existing threat of death, how could a test result have much more of an impact?

    That being said, this type of issue exists with most testing. BRCA1/BRCA2 testing is not required -- it is most frequently used by concerned individuals who care about their health and would be willing to make necessary changes. Because of this, I think that the development of a genetic screening test for increased risk for heart disease would in fact be beneficial and should be pursued.

    This may seem controversial, and I don't necessarily support this comment, but: Sometimes I wonder if in medical situations like this, funding for research,and in the future insurance coverage (for tests, services, etc), would be better spent on programs for behavior and lifestyle factors that are responsible for a much higher risk for heart disease.

    I agree with Andrew's comment about the victory of heart disease coming from lifestyle habits.

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  13. I agree with Caroline and Danielle that a screening test is unlikely to be developed in the near future. As many people have previously mentioned, this is only a preliminary study, one that should be followed by several others to confirm the results of the study and to strengthen the association between heart disease and these genes, rather than simply having a possible correlation.
    Another concern is generalizeability. Many people suffer from heart disease, but the study group was limited to British males. Further studies would also be necessary to confirm that other races are similarly effected. In theory, the haplogroup may apply to all men since it is on Y chromosome but confirmatory studies are still absolutely necessary. As mentioned in the article, this effect may also result from the lack of an extra X chromosome, rather than the presence of a Y chromosome, so future studies are necessary to confirm the locus of any genes specifically to the Y chromosome.
    Also, this study focused on a haplogroup, which has many genes on it. There may be a single gene that must be identified or there may be several genes that interact with each other. Either way, accurate screening will be difficult if it is simply based on a block of genes, rather than a specific gene. Also, if it is not simply a single gene, but several genes interacting together as is often the case with complex chronic diseases, it may be difficult to develop an accurate screening test.

    The advantage with the BRCA 1/2 test is that it focused on a specific gene. Even though there are other unknown variants that may or may not be linked to breast/ovarian cancer, BRCA 1/2 are strongly linked. If further studies validate this study's findings, then a very reliable screening test could only be developed if it was linked to one or a very few number of genes. Otherwise, it may be difficult to predict the risk of disease.

    However, if a test is viable then it would have a profound affect. As Andrew pointed out, there are some general preventative measures like severe diet restrictions and statins that may help prevent heart disease. Also, there are other tests for disease that have no cure like Huntington's disease. At the very least, it can help the person plan their life in the event that they do suffer from heart disease.

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  14. I agree that the article proves that there is simply not enough research done to know exactly what this finding could bring in the coming years. As expected, it could be a huge advancement in the field of cardiovascular public health. What makes this screening particularly challenging is the cluster of genes. Without a target gene to examine, it may be difficult to determine specific effects, treatments, and potential health concerns related to the issue.

    In comparison to the BRCA 1/2 testing, it is easy to see the difference due to the nature of the testing. BRCA targets a specific gene and research has provided affected patients with successful treatment programs. In regards to this article, there are no proven treatment plans as many students have previously mentioned.

    As heart disease is the leading cause of death in the U.S., it is exciting that research may be on the verge of helping to improve this issue. However, without further experimentation, we cannot rely on this information until more evidence is produced.

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  15. Given that this was only a preliminary study, I agree with the article in that more research needs to be done in order to determine the validity behind the idea that heart disease is independently linked to the male Y chromosome. With that said, if further/future research does in fact prove that there is a significant link between the Y chromosome and developing heart disease as we saw with the BRCA1 and BRCA 2 mutation and developing breast or ovarian cancer, I do think a screening test should and will be developed. But it will be important to note that unlike the screening for the BRCA 1 and BRCA2 mutation in which a positive test result means the patient has an elevated risk of developing breast or ovarian cancer, the screening test of the Y chromosome will be different in that the mere presence of the Y chromosome will not be enough to diagnosis an increased risk of heart disease and therefore some other factor related to or within a Y chromosome will have to be linked to the disease.
    I think this type of screening will significantly impact clinicians and their treatment decisions just as we saw with the difficulty physicians have had in adjusting to the guidelines and procedures associated with BRCA1 and BRCA2 mutations and the referrals for those screening exams. But if this mutation is found to be independently linked to the development of heart disease then screening for such a mutation can be just as effective as the BRCA testing has been.

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  16. I agree with what many previous people have said about the screening test. More research definitely needs to be done to show that there is a connection between the Y chromosome and heart disease that is significant enough to impact one's chances of developing the disease. Since heart disease is one of the leading causes of death in the U.S, a screening test could have a significant health impact. It has the potential to decrease healthcare costs in the U.S as well as decrease the number of deaths due to heart disease. However, if a screening test will ever be developed it most likely would not become widespread for a number of years.

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  17. I find it surprising that more research has not been done in past years on the Y chromosome that males have and it’s correlation with different diseases. As Kristen and others have mentioned above, the second X chromosome has been proven to act as a protective factor for women against other diseases already. I do not think a genetic screening will be developed anytime soon. A lot more research needs to be done on this cluster of genes on the Y chromosome, and there are so many other factors that have to be taken into account as well, such as diet, exercise and other lifestyle factors. Once more conclusive results are obtained, I think developing a screening test will be very beneficial. Heart disease, which is one of the leading causes of death in both men and women, creates a large amount of medical and health care costs. As Alyssa said, these costs could be greatly reduced. I agree that there may be some disadvantages to screening, such as psychological and emotional effects. If a man is told he does not have the gene cluster that causes a significantly increased risk of developing heart disease, he may start or continue to live an unhealthy lifestyle. Once the screening is used, I think that proper steps need to be developed for how to give the results of the screening and how to offer support and guidance for those who have the increased risk of heart disease.

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  18. Allison SchwertnerMarch 21, 2012 at 3:57 PM

    Like many people before me have said, it would be beneficial to have an accurate screening test for the hablogroup developed. Since it is already suspected that there is a correlation between the Y chromosome in males and their 2/3 increase for heart disease, males will be likely to respond with a willingness to take preventative action. Therefore, I think it is a good idea to develop an accurate screening test. This is similar to the BRCA screening test in the obvious way that they are gender-specific, but also because people may think that if their test results are negative, that their chances of developing breast cancer or heart disease are 0%, when in reality, negative test results do not ensure eternal protection against acquiring the disease. For example, the men that will test negative (for the Y chromosome gene cluster that causes a 50% increased risk) might go ahead and eat all the fatty foods they want and not exercise. I believe exeternal factors, such as diet and exercise, play an extremely important role in increasing one's risk of heart disease, and that has been proven.

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  19. Like some previous posts mentioned, this haplogroup potentially correlated with heart disease is not completely analogous to BRCA 1/2. A woman with a positive screen for BRCA 1/2 can have her breasts and ovaries removed as a preventive measure, while still living a relatively normal life. A person more likely to develop heart disease because they possess the haplogroup cannot take any additional preventive measures (like getting their heart removed!) other than the ones already recommended by doctors for everyone - eat well, exercise, and quit smoking. There isn't a particular way to treat an increased risk of heart disease other than the existing regimen, and it's one that people should follow regardless of their genetic makeup. As mentioned in the thread, being free of this variant does not guarantee a person won't develop heart disease anyway.

    It's also been found that women do suffer from heart disease, they just may not be diagnosed as quickly as men - both because men on average develop it earlier and because women often do not present with "typical" symptoms of a heart attack. Women do still develop heart disease, however, and this is further proof that this particular y-linked haplogroup is not the sole determining factor in which individuals will develop heart disease.

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  20. As several of my classmates have mentioned, I have to agree that I do not think that this type of genetic screening test will be developed any time soon. Before any kind of screening test for heart disease can be created, researchers should first determine that this specific gene cluster and heart disease are actually linked. Further studies should be done, and researchers should broaden their participant pool to include other countries in Europe or even the U.S. They could also vary the data collected by looking at specific populations within one region. Having multiple studies to compare data from would hopefully provide more conclusive information. I think that developing a screening test could eventually be beneficial, but as of now would only be a waste of resources. Before researchers spend time and money developing a test, they should first find positive data proving a link between the gene cluster and heart disease.

    If a heart disease screening test were to be developed, I think there would be many similarities to the BRCA 1/2 screening test. Both would identify a specific gene or gene cluster that has proven to have adverse health effects in the human body. Unfortunately, if a person finds out that they have this particular gene cluster, the treatment options are not as definite as those for the BRCA 1/2 gene. With BRCA 1/2 screening, women have proven treatment options, such as a mastectomy that prevent breast and ovarian cancer. With heart disease, treatments may include altering diets and reducing smoking. Even those haven't proved to work every time. So, what is the likelihood that showing a positive test for this gene cluster would actually affect lifestyles? In some cases, i'm sure that men would quit smoking and eat healthier in hopes that it would prevent heart disease, but without concrete data I believe that many men would dismiss positive test results because there are no absolute treatment options.

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  21. I don't believe that a screening test for this will be developed anytime soon. As the article states more research needs to be done before directly linking the Y chromosome in men and heart disease. I agree with Mercedes in that if the screening test were to be developed it would definitely be similar to the BRCA 1 and 2 screening test. Both would be tests developed to screen for specific genes that could cause poor health effects. Although they are similar, they definitely differ in the fact that heart disease differs greatly from breast and ovarian cancer. They differ in causes, treatments, who is affected, etc.

    I find it hard to be convinced that this Y chromosome is the cause that more men have a risk of heart disease. I feel that a lot more plays into it. Especially environmental and behavioral factors.

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  22. As many of my classmates, specifically Caroline, have mentioned, I think this screening test has a long way to go before it is developed and approved. As Abigail mentioned, I think there is a strong clinical basis supporting the research behind this test. As heart disease is the #1 killer of the adult population, early detection of the disease is needed. The current problem I see with identifying an increased risk in heart disease is the lack of treatment options. A positive BRCA 1/2 test leads to options of breast removal and routine screening. A positive heart disease mutation test would currently lend only to behavior change. Behavior change is often difficult to achieve. Without more evidence and a standard treatment/prevention plan, I think this screening test will create a lot of anxiety and stress!

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  23. This genetic screening test won't be developed anytime soon. All the details on the Y chromosome's relation to heart disease needs to be worked out before any definite screening tests can be done.In the article it states that not much research has been focused on the Y chromosome so I definitely see some advancements in our knowledge of heart disease. Studying the Y chromosome may be as beneficial as BRCA1 and BRCA2 genetic screening. The BRCA1 and BRCA2 gene has helped in identifying breast and ovarian cancer. And like BRCA1 and BRCA2 genetic testing, a Y chromosome genetic test, even with more evidence, will create anxiety and stress as usual. Right now clinicians can't really use this information for treatment plans but maybe sometime in the future.

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    1. As everyone has mentioned, I agree that a genetic screening test will be developed for the Y chromosome gene cluster at some point. I wonder if this will be added to the new born screening tests or if you have to decide to get the test though because a financial issue could possibly arise. This test would be similar to the BRCA 1&2 Tests because as Elizabeth mentioned it would encourage people to take of themselves and to lead a healthier lifestyle. But now that I think about when the test would available I don’t think it would be a good idea to add it to the screening test because one of the criteria/qualifications for a screening test is that there is treatment or some sort of benefit. But what would be the benefit of knowing when the article mentioned that even if people eat healthy and exercise they might still get heart disease while people who don’t do either might never develop it. I definitely think more work and information needs to be done before we officially decide to test for the gene cluster.
      However, although this might take a while to develop I do think studying the gene clusters are important because as Abigail mentioned heart disease is the number one killer in both men and women. Furthermore, I also agree with Abigail that there are several reasons why people should eat healthier and change their habits in order to live longer and to have a better lifestyle…but people still aren’t listening. What makes us think a test is going to change that…especially if the “treatment” isn’t necessarily guaranteed to work. Either way I agree with Andrew that a reducing heart disease is a personal choice and that people have to do it on their own. No tests will do that. Behaviors have to change first.

      Hopefully once this test has been developed clinicians will be able to help their patients change their lifestyles and with all this education more people will become aware of how important their behavior is and how it contributes to their lifestyle and maybe it will help to reduce heart disease.

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    2. Going off of Kristely's comments about people who already know they are at risk for heart disease not changing their lifestyles now, I cannot help but wonder to what benefit the Y-chromosome screening test will actually be. Sure, if you know you have a genetic predisposition to heart disease you may be more likely to change your habits, but will people actually? Take the realistic example that follows into thought. How many smokers do you know? How many campaigns have you heard about the heart health risks that follow prolonged smoking? Both situations are extremely prevalent in our world today, though they are in opposition to each other. I just cant help but wonder about the usefulness of a genetic test at the moment that tells certain people to live a healthy lifestyle, as that should be promoted for all. On the other hand, if there is more targeted pharmaceutical intervention for individuals with this disposition, I think that genetic information would certainly be useful in a prophylatic sense.

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  24. I think that a screening test for the Y chromosome gene cluster will be developed. I know that several students have brought up the issue of time—how long will it be before such a test is developed. Out of curiosity, I looked up the time frame for the discovery of and development of testing for the BRCA1/2 genes. Researchers really began to search for the “breast cancer genes” in the 1980s; by the mid-1990s, the BRCA1/2 genes had been identified and sequenced and a test was being offered. And this was before the Human Genome Project was completed and with technology less advanced than what is available today. So, I don’t think it is unreasonable to expect a test for the Y chromosome gene cluster to be developed within the next 10 years. I also think that companies looking to make money may develop tests before there are definitive answers on the gene clusters’ connection to heart disease (or before the validity and reliability of any tests that may be developed have been determined).

    Of course, as the article and many others have noted, before a screening test can be developed, more research is needed to confirm the association between the gene cluster and heart disease risk. Further research is also needed to determine what the genes are, how they act, how the gene clusters affect different populations (the study was only done on men of European ancestry), how many cases of heart disease can be attributed to the variant gene cluster, and how people with these gene clusters can be treated to prevent heart disease.

    A question I have about a screening test for the Y chromosome gene cluster: Would this be a screening test like newborn screening tests, where individuals are tested for evidence of a disorder (or genes) to determine whether a confirmatory diagnostic test needs to be performed. Or would the test be a definitive yes/no you do/do not have gene cluster. If it is the latter, then this is one way that a genetic screening test would be similar to BRCA1/2 testing.

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    1. I think that is really interesting about the time frame of the BRCA 1/2 research and test. I think that Anna has a good point that it was before the human genome project was completed. Today there is much more information known about genetics and genomics and therefore I would expect that this similar process for this Y chromosome research would take less time. I think that because this chromosome is related to heart health, it will also speed up the process because of a high interest from the population. Cardiovascular diseases are one of the leading causes of death in the United States so research on heart health will have a large support group behind it. The more people behind the research, the more money and time will be put into it and therefore it will speed up the process of finding results and creating and test.

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  25. (continued)
    Another way that a genetic screening test for the Y chromosome gene cluster would be similar to BRCA1/2 testing is that both tests are, for the most part, geared to specific (although opposite) genders. (However, men can carry and be tested for the BRCA mutation, whereas women do not have a Y chromosome.) Furthermore, in both situations, just because a person tests positive for the variants of the gene or gene cluster associated with disease does not mean that he/she will definitely develop the disease. Nor does it mean that a person who does not have the disease-associated variant will not develop the disease. In other words, both tests would test for risk factors for the disease. Finally, the tests are similar in that people who have testing done may experience similar psychological responses. For example, people who test positive for increased-risk variants may feel anxious or fatalistic, and people who test negative may feel relieved or invulnerable.

    The two tests would be different in that the screening test for the Y chromosome gene cluster would test for just that—a gene cluster—whereas the BRCA1/2 testing tests for two specific genes. In addition, BRCA testing is targeted to at-risk women who fit certain criteria (certain family history patterns). As of yet, however, it does not seem that there are specific men to target Y chromosome gene cluster testing to (although this may change if future research determines that certain men are more likely to have the increased-risk gene cluster.) Thus, testing for the Y chromosome gene cluster could potentially be performed on a larger number of people than BRCA testing. Finally, as others have mentioned, there are clear prevention methods that people with a deleterious BRCA mutation can take to reduce their risk of cancer. However, in the case of testing for the Y chromosome gene cluster, no clear prevention methods exist for men who have the increased-risk variant. A man can always adopt a healthier lifestyle to reduce his risk of heart disease, but the study seems to indicate that these gene clusters present risk independent of lifestyle factors. (Again, though, future research may reveal or aid in development of preventive measures. For example, if, as the researchers suggest, the gene clusters play a role in inflammation, then doctors can recommend treatment, such as baby aspirin, to patients whose Y chromosome genes put them at increased risk of heart disease.)

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  26. I think that if it ever becomes proven that there is a connection between the gene cluster on the Y chromosome and increased risk of heart disease, then yes there will be genetic screening for it. The first thing that came to mind after reading the article was how the study was done on British men only. That could play a factor in the study results and skew the connection between generalizing all men in general having an increased risk of heart disease just because of their Y chromosome. I know that more research and more studies are going to be done to try to eliminate other factors and variables. Comparing this with the BRCA1 and BRCA2 gene for breast cancer, I'm not sure what preventative measures we would be able to take to fight against heart disease. I also agree with Anna in that the testing for BRCA is more specific because it targets at risk women. But there wouldn't be any criteria for testing men. As of now, it is hard to say whether the genetic screening test for heart disease will be useful because we don't know if environmental and external factors such as lifestyle habits play any role in increased risk. If none are found, then it's hard to believe that the screening test will help if there are no preventative measures available. It will only cause anxiety for the people being tested and also the testing will not be cost effective.

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  27. This is a very interesting article about the Y chromosome and the incident of more heart attacks. It is convincing that the Y chromosome cluster is a reason why these particular men get heart attacks, no matter their lifestyle. I believe that once there is more research and clinical trials done, that a genetic screening test will be developed. The Dr.'s are still trying to do more research on this particular chromosome, so once they have more education on this I believe that there will be testing done for this. In order for this to be similar to BRCA1 and BRCA2 genetic screening, the Dr.'s will need to be able to find out how they can "cure" or remove this cluster. They will need to know the precautions of what will happen when the cluster is removed or treated. Once this particular defect gets around into the public eye, there will be more men coming in for genetic tests (because their wife's will make them do it). This is will be a very different procedure than the BRCA1/2 testing because the Y is part of every male, and it would have to start off as a clean slate because not many will know if they have this genetic factor in their family or not.

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