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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.
These have been research issues to a large extent in recent years but now they're emerging into the clinical realm. So you're exactly right that genetic information is probabilistic. It doesn't usually give you a firm answer about what's likely to happen with your health. That's a significant element of the complexity.
The other aspect that really is the source of the ethical, legal, and social issues is that oftentimes at this point in history there's little that you can do with that information that will make a definitive difference in your healthcare outcome. Patients are now coming forward with genetic profiles and asking their clinicians, "So what now? What do I do now?" and clearly primary care providers are struggling with interpreting this information.
Oftentimes, what they have to advise patients are those lifestyle changes that might help reduce their risk. In certain circumstances with certain types of testing there may be significant surgical interventions that may reduce long-term risk but those are the sorts of difficult value laden decisions that are all part of the genetic testing sequence right now.

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.
It was hoped that that information would provide critical clues on breast and ovarian cancer in general and it's helped in that regard but it hasn't led to targeted therapies. What it has led to is the ability of people to begin early detection measures at a younger age than otherwise would be indicated, and it's allowed folks to take a surgical approach if they're at high risk to substantially reduce their risk of disease.
Women can have prophylactic mastectomies and prophylactic removal of the ovaries. That does not entirely eliminate their risk but it's pretty close. Angelina Jolie, of course, is the prime public example of that phenomenon but that's been enormously helpful to families who are found to be mutation carriers. It's something definitive that can be done despite the burdensome nature of the surgical interventions involved.

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.
The hope is that in 20 years or so we'll have much more sophisticated ways to manage the lack of function of that particular gene, perhaps gene transfer studies where new genes could be inserted into the system or perhaps different biochemical ways to enhance function of that genetic pathway that will reduce risk without these sorts of drastic measures.
So the hope is that having this basic understanding about how the human body works and how it doesn't work in some circumstances will provide those clues in much more sophisticated and elegant ways to treat or prevent these conditions will be possible in the next 15, 20, or 30 years. Right now we're stuck with predictive knowledge but oftentimes not the power to influence the course of disease that we would really like.

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.
We have very little understanding of how those complicated interactions occur. So simply testing someone for a panel of genes gives very crude and partial information about their long-term risk that, on the one hand, even if it's accurate may not be particularly helpful. On the other hand, there's distinct possibilities that it's not accurate because we don't have enough information to really interpret.
So there's lots of concern about some of the common panel testing availabilities that are out there now because of the possibility of providing false or misleading information and leading folks to believe perhaps that they're at less risk than they really are for certain conditions or at increased risk for conditions for which they really aren't that increased risk. So the prospects of misinformation are really problematic at this stage of the science.

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.
So I do think that that heralds a new age in which we may have more scrutiny over these sorts of tests to try to assure that the public is receiving as accurate an information set as we can provide at this stage.

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.
Similarly, even more controversial, I think we'll be using these sorts of technologies in the prenatal domain. Of course, the termination of pregnancies is a longstanding social controversy and this will be an element of that, but it also just has to do with how much do we want to know about our kids? How might it change the parent-child relationship to have fairly extensive information about the nature of your child? Those are hard things to study. It's something we need to be aware of and cautious about.

Woman: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.