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Subscribe to RSSLet’s say a scientist performed a test on you and found out that you were at risk of dying of a disease that you didn’t know about, or of passing the problem on to your children.
Would you want to know? Should you be told?
The answers aren’t as easy as you might think. And in some cases, it actually might be illegal to tell you.
A new article in the journal Nature discusses this dilemma regarding research involving new genetic tests.
Research scientists everywhere are busy studying donated DNA samples to find clues about what puts people at risk of getting all kinds of diseases.
In the course of that study, they may find some surprises: A gene associated with too much cholesterol in the blood might also be a marker for heart disease, Alzheimer’s disease or depression. Another gene might predict something even worse.
So why not share the news? The ethical problem is that this work is all research. It is not definitive. Research scientists often have little clinical contact
The tests they are performing are not yet approved by the Food and Drug Administration for accuracy or reliability. They’re suggestive, not proven.
Still, when a researcher believes that there is an association between your genes and a serious disease, shouldn’t he or she speak up?
As tempting as it is to say ‘yes’, I think the answer is ‘no’. Research is just that. Until it is confirmed, it’s very likely that more harm than good will be done by trying to warn people about suspicions and best guesses.
If a scientist is absolutely sure that serious harm is coming your way AND there is something you could do to prevent it, then they must speak up.
But, until all the evidence is in and the genetic test is proven to be accurate and reliable for a large number of people, the duty not to panic and frighten should override the desire to warn. You can only cry wolf so often before people will stop listening to genetic warnings.
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Better to know than to not know. Life is part crapshoot, part poker game, and a genetic test at least works more in the player's favor than the dealer's.
The problem is most people don't understand research. Part of the process of science is to weed out false positives, and, as a matter of fact, there are more false positives than true positives. It takes many experiments, a lot of data, and usually a large amount of people before one can definitively make a claim.
If the research was performed ethically or under IRB guidance, the researchers would be blinded to the participants so NO, there isn't anything to tell because there is no one to tell. So patient XXXX has elevated level of biomarker YYYY. Doesn't demonstrate clinical utility.
Research, WHY RESEARCH? PROFIT! With all the medical "waste" ( peoples cancers, body parts, human remains) should be RESEARCHED for the diseases they were extracted for. This would create a DATA BASE of different diseases that could be matched against WHAT YOU HAVE....... This in turn could be used as a basis for cures of ALL DISEASES. Right now the genes of ONE WOMAN are being used to help cure other women's cancers. The family of the "donating" woman's DNA is not receiving a single dime while the pharmaceutical company is making billions. Get started doing this NOW and we may have some cures within 10 years. ONE IMPORTANT CAVEAT, any government money used in the research and development of any drugs has to be returned to the government in license agreements allowing the government to produce and distribute the drug to the Medicare and Medicaid community AT GENERIC RATES.
The answer is YES not a NO. Who do these people think they are kidding? Why pass some disease/gene on to your kid if it can not be cured before being born. Knowing that you have something that would affect a kids quality of life if just putting the burden on them and is just plain selfish.
The thing with research is that there is no such thing as "knowing" with all these studies that common out daily chocolate is good for you, no chocolate is not good for you, red wine is good for you, no it's not, coffee is good for you, wait coffee isn't good for you - there is no definitive answer so would you really want to dictate your life on knowledge that might not be true?
Sometimes yes, sometimes no. It it's possible by the genetic traits that you could get this, the question that should be asked before hand is "How possible? One in ten? One in 5000? 10000?"
I'm genetically predisposed to things because of my family- I already know that, but how big are my risks? If I could find that out on some genetic test for some of these things, it would calm my mind.
But we don't want a GATTICA situation either. We don't need someone denied a job because theirs a 5% chance they could develop a heart condition. Or a woman saying no to marrying someone she really loves because his family carries a 10% chance of them having a homosexual child. Or aborting a baby because there's a one in 1000 chance that that baby might grow up to have Alzheimer's or depression.
Appreciated the Gattica reference. Great movie that flew under the radar.
Yes, with any society that values money the way we do, genetic testing would create a permanent underclass of "DeGENEerates" like in the movie.
Maybe someday we will have an alternate value system
Screw the doctors' reluctance-I'd want to know! It should be MY choice as to whether I'd want to risk a future child if I had a genetic issue, not the doctor's choice to take that risk. I'd want to know! I'm not talking a genetic chance of homosexuality-that isn't important. Neither is depression or Alzheimers. We're talking about things like Tay-Sachs, or the genetic malformation that killed the "singer" Prince's child. Same with Down's. And that medical info should not be accessible by a present or future employer-that info SHOULD be personal & private, not open season on it from anyone outside of my family who thinks they should have a reason to know! That's for you, Zeke-_Stryker.
This is an entirely different situation. You can ask to be tested for such things at Tay-Sachs and Down's. The tests are reliable and the results generally proven to be accurate. You, as a patient, can go into your doctor's office and request these tests be done and get your answer. What this article is talking about are tests that are just in the trial phase -- not proven reiable or accurate. These are not tests the patient requested -- they are performed on donated DNA samples for researchers to tinker with and see what they can learn. This is how new tests are created, how new gene markers for disease are identified. But they are just in the research phase. Why should patients be burdened with fears of what might yet prove to be inaccurate? Do you want to base life decisions -- to have children or not, etc -- based on a researcher's best guess that might end up being incorrect? That's the situation they are talking about here. Very different.
Assuming that I paid for the test, I'd want to know the answers. If it was some sort of donation sort of thing, it would be at the discretion of the company accepting the donations.
Me personally, I'd want to know if there was some statistically significant chance for something bad. If I had a genetic marker for a specific type of cancer, for instance, I'd want to start making a stockpile of cash or invest in cancer insurance as soon as possible. Having said that, I wouldn't want the results made public, and certainly not to my health insurance company. This would be *my* personal problem, and my potential death involved - I wouldn't want to get dropped from my insurance because I was curious enough to be tested. That, of course, opens up a whole new can of worms concerning sharing of information between companies, and worse, what happens when genetic testing companies would be bought up and merge with a health insurance conglomerate. Your information, and your continued health insurance, would be at risk to say the least. Unless legal steps are taken immediately to prevent this type of discrimination based on genetic factors, we may see eugenics policies (legal discrimination based on "bad genes", or unnatural selection) on the books within 20 years. It's a bit frightening.
In a basic research setting, the patient has an opportunity to sign a release for the use of samples and clinical information (medical history, family medical history, lifestyle such as diet, etc) to contribute to a study. They may even be paid for their cooperation. The enrollment is often not reflective of the entire population, but may be derived from subjects that were catheterized, for example. Among these subjects, associations between disease and genetics are tested. The rules for enrollment, vetted by the Institutional Review Board established for the research institute, as well as various confidentiality laws, may require a clause as a part of the agreement of the subject with the study that says the researchers may not contact the subjects regarding the results of the analyses.
Often, these risks are measured in terms of odds ratios (not relative risk), and may only indicate elevated risk compared to those with a different allele. For multifactorial diseases, a risk gene for hypertension may be strong, hypertension as a risk for heart disease may be strong, but the impact of the risk gene for heart disease may be diluted, which is one reason this is so hard. SOME of these markers are correlated with real, but unmeasured, mutations. The correlations exist because of a host of population-related mechanisms that drive correlations within specific populations. These correlations can break down in other groups. This list of risk mutations tend to be picked up by other labs that examine them biochemically for impact on biological function, which gives a much clearer picture of their role in the genesis of disease. Until all of this is done, the value of the mutation as a diagnostic tool is not established, and can give bad guidance to a patient. THAT is why it is not appropriate for a genetic epidemiologist to prematurely share this information.
You can't handle the truth. We have fancy degrees, so we choose what you get to know.
We know better than you do.
Yes, because telling somebody that they are going to die young is such an easy thing for everybody else right?
You could have the best, cleanest DNA on the planet but you can still get hit by a bus while walking across the street.
That's true Rick. Also Frank, have you ever met an actual scientist? They might have a fancy piece of paper somewhere, but most of them have to mend the holes in their pants and drive crappy, old Corollas. They're not exactly the elitists that you envision them as.
Physicians tell you genetics based information all of the time. It usually comes from the questionaire you fill out asking about heart, kidney, lung disease or cancer for your parents/grandparents. Then from that information they tell you that you are at a higher risk for XYZ and make recommendations accordingly.
As far as unproven tests that might reveal possible tendency toward maybe developing something in the potential future, physicans should be extremely cautious until the research has been replicated and well peer reviewed (as most are.)
In the future if they know what genes cause what then you would have the right to know and your physican should offer to disclose such information IF they have it, even if it might mean a shorter life expectancy. They don't hide it from you these days when you've been diagnosed with inoperable cancer.
There are a lot of good points being made in this discussion, including both the question of whether proven genetic results should be shared with health insurance companies, and the concern that a test showing a patient has "a tendency towards" doesn't necessarily mean that they will develop the condition or disease.
As for me, I can speak from a position of some experience since I only found out early this year that I inherited a genetic defect from both of my parents that has caused me to have a rare blood disorder. There is no cure, no drug-based treatment or therapy and no ongoing research. Cheerful, isn't it? Even better, it turns out that my ex-husband is also a carrier and our daughter got herself tested at my request, and she will eventually develop the same disease.
Luckily, there is one "therapy" (if you want to call it that) that can at least control the long-term effects of the disease. However, now that this is in my medical records, since I need to get this done every 3 weeks for now, I'm afraid of what may happen if I need to change jobs or go to the open market for health insurance coverage (thanks, BO!).
I wouldn't want to know, nor do I think I should know. I'm at far greater risk of dying in a car crash than of a disease...should I not drive, or not have children for fear they may end up fatherless or perhaps fear that they might die in a car crash while I was driving?
Death is part of life. Disease an unfortunate side effect to living. Live the life you have. If my parents had known that conceiving me meant I'd live a life with an incurable disease, perhaps they wouldn't have had me. But they didn't know. And today, I'm living quite happily with my disease.
Never forget .... life is a terminal condition!
>^.,.^<
The "NO" concept implies that people should be denied free will. Not everyone is a baby.
Based on a lot of the comments, I can conclude that far too many people do not have basic reading comprehensions skills.
This article is about telling people the results of a yet unproven genetic test, meaning that there could be a lot of false positives and false negatives. Now the big questions is, if the researcher is confident that all the data points towards an association of certain genes with a disease do they tell the person, or do they wait till the research is finished, tested, peer reviewed, to absolutely make sure that they are giving the best possible warnings to a person? Either way it's a double edge sword, people could make life altering decisions based on possibly misleading information. Again, this isn't about tests that are mainstream and trusted, this is about tests that are still in their development and can still be proven inaccurate and wrong.
Oh and I completely acknowledge my lack of writing skills...in my defense I'm a science gal, not an English major.
Two points. Also, I can empathize with your lack of writing skills. I am a nerd upstairs but an absolute moron when it comes to writing on a piece of paper.