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Are You Ready to Find Out What Your DNA Has in Store For You?Within a few short years, knowing your DNA… +5 More
April 09, 2014
Health Sciences Woman: Examining the latest research and telling you about the latest breakthroughs. The Science and Research show is on The Scope. Interviewer: Many predict that within a few short years knowing your DNA sequence will be a routine part of healthcare, but are we ready for what we might find out about ourselves and our future? I'm talking with ethicist Dr. Jeffrey Botkin who researches the ethical, social, and legal implications of genetic technology. Dr. Botkin, have you had your genome sequenced? Dr. Jeffrey Botkin: What a wonderful question. No, I have not. I think I would probably not be interested in the near future in learning that kind of information for myself. Interviewer: That's an interesting answer. Why is that? Dr. Jeffrey Botkin: Well, it's interesting to see how personalities play out, and what we found through research is that depending on the nature of the genetic test there's quite a spectrum of responses to the basic question of do you want to know that information or not? I think there's folks who are information seekers who are eager to grasp any information they might find and those of us, perhaps descriptive of myself, who tend to be more cautious about information and less interested in exploring some of the details. Interviewer: Genetics really isn't black and white. It's not always the case that you have some mutation and you will get that disease. Often it's more nuanced than that. Are we ready for handling that sort of information? Dr. Jeffrey Botkin: We're seeing this information now coming forward and potentially great floods. The technology is there for us to learn our entire genome sequence at a fairly modest cost now. Folks are anticipating that cost to decrease. So these are exactly the kinds of issues that we are facing now in the clinical realm. Interviewer: I'm wondering if you can give a tangible example where someone knowing their genomic information has been helpful. Dr. Jeffrey Botkin: Sure. I think probably one of the most compelling examples now is one that really arose out of research here at the University of Utah. That has to do with BRCA1 testing, breast and ovarian cancer susceptibility for women. It has some health implications for men but for the most part women who are carriers of a mutation in this gene have a substantial increase of breast and ovarian cancer through their life. Interviewer: Electing for a mastectomy is a pretty drastic choice. What would push someone to make that choice? Dr. Jeffrey Botkin: I think having had the experience of a mother dying of cancer is oftentimes the prompting experience that tips people in the direction of that sort of drastic measure. While those measures are quite effective in reducing risk, I think it's also an illustration of how undeveloped this field is. Interviewer: I think another issue is that there are many, many diseases that we don't know the genetic variations that cause it. So if we're given our genomic information now could it give somebody, say, a false sense of security that they're not going to develop certain diseases in the future? Could there even be a situation where somebody sues their physician because they do develop a disease even though their genetic test said that they probably wouldn't? Dr. Jeffrey Botkin: Yes. I think those are all serious concerns. Once you move out of the domain of sort of single gene or so-called Mendelian inheritance types of conditions like BRCA1, then common forms of breast and ovarian cancer, for example, common forms of most diseases with heart disease, Alzheimer's, and diabetes aren't due to single genes that you can target and test for. They're due to very complicated interaction of many genes and the environment. Interviewer: Are there any guidelines or laws in place to protect physicians or patients at this point? Dr. Jeffrey Botkin: The FDA has had the authority to rule on the safety and efficacy of genetic tests for many years but has not been active in this particular domain. In recent years though they've taken a more active stance. They recently closed down 23andMe's genetic testing capabilities several months ago due to concerns around the accuracy and validity of the information that was being provided. Interviewer: What do you foresee as being some of the biggest points of contention in the future? Dr. Jeffrey Botkin: From my perspective as a pediatrician, I think the testing of children is going to remain a highly controversial area because kids can't make choices for themselves. We need to be careful about generating information on children that may impact how the kids view the world and how the world views those kids. Woman: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio. |