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Everyday this week, we’ve been treated to a new article by Mary Carmichael (Newsweek bio and Twitter) in her series “DNA Dilemma”, in which she takes a look at issues surrounding direct-to-consumer (DTC) genetic testing and ultimately decides whether she will take the test herself. As I posted on Facebook, I think this is a really good read (very accessible!) for anyone who wants to get up to speed on what’s been happening in the field of DTC genetic testing. (And there has been a lot happening. It’s been quite an eventful year already.)
It’s Day 5! She’s made her decision.
Mary has compiled a great list of further reading, including her past articles on DTC genetic testing and blogs by some of the experts interviewed for her series. I especially recommend the very long but very thorough article “The Past, Present, and Future of DTC Genetic Testing Regulation” by Dan Vorhaus of Genomics Law Report.
I have really enjoyed reading her articles and interviews with experts, primarily because I’ve also debated over the past few years about whether I might take one of these tests.
Initially, I thought “Why not?” Perhaps because I am biologist, the idea of peeking into my genome sounded like crazy fun. We do this with our model organisms – now we get to do it on ourselves? Sign me up!
I’m fascinated with my own biology. I’m the sort of weirdo who gets a thrill when asked if I have any chronic medical conditions – I gleefully write down that I have a blood disorder. But it’s perhaps that I do not have any serious medical conditions (my blood disorder is fairly mild and does not significantly affect my life on a day-to-day basis), that I can be as cavalier with my biology/medical history as I am.
The first reality check came when I mentioned and explained the concept of at-home genetic testing to my husband. I was extremely taken aback when he reacted with something less than enthusiasm and told me that I should probably check with him if I was to ever get tested.
I’m a relatively self-centered person, so it hadn’t dawned on me until that moment that getting myself genetically tested or genotyped (or sequenced, whenever that becomes a viable option cost-wise) was a decision that would ultimately impact members of my close family. Any information on my risks of disease or on my carrier status for genetic disorders would certainly impact my husband (as he immediately figured out). This same information would impact my parents and my brother, since, as my closest genetic relatives, they have a good chance of sharing the same genetic information.
I was pleased to see that someone by the name of Alondra Nelson [Edit: Dr. Nelson found me on Twitter! A link to her bio and Twitter] brought up this same point in a comment on Mary’s most recent article, Day 4. I had to quote it here, apologies if this is not kosher in some way:
Because a choice about DNA testing inherently is also a choice made for a family and, potentially, a community, your individual decision necessarily implicates a host of other people. Perhaps members of your extended family, who might be impacted by information you uncover, should have participated in your deliberation.
My initial raw enthusiasm for getting myself genetically tested has died down somewhat. I would need to make sure my family is unequivocally on board. I feel also that I would need to put them through some sort of Human Genetics 101 course and ideally hire a genetic counselor to sit them all down and explain what it means when you have some amount of increased risk for developing some given genetic disease.
In other words, I think I am sufficiently aware of all the issues and uncertainties surrounding genetic testing and human genetics that I would be able to think critically about my results. (I’d like to think so at least.) I am not as confident that the rest of my family (and thus by extrapolation, the rest of the world) would be able to do this without some assistance. I don’t mean to be paternalistic. Maybe I am just being selfish – if any of my family ever decided to buy one of these at-home kits and get themselves tested, it would inevitably fall on me (the only biologist in the immediate family) to help them decipher the results.
Perhaps it’s a matter of educating the public, of teaching them that genetic information is not destiny, that it is just one thing that contributes to your risk of developing a disease. (Generally speaking. Of course, there are diseases like cystic fibrosis, in which the genetics are largely deterministic.) Perhaps it’s just a matter of emphasizing that the results of genetic testing must be understood in the context of everything else about your health – your lifestyle, your diet, etc.
Genetic information is in some way just a very detailed and specific version of your family history. This comparison may not be quite accurate, but I think it’s interesting that we don’t think twice about giving our medical history to our doctors. Yet, knowing whether you have a relative who’s had heart disease or diabetes or cancer is a way of indirectly getting at your genetic information.
Knowing how to interpret the results from your genetic test in the proper context – I suppose that’s exactly why many people believe that genetic tests should not be DTC and that they should be interpreted with the help of a medical practitioner and/or genetic counselor.
Unlike Mary, I have not decided whether or not to take a DTC genetic test, and I don’t plan on deciding in the immediate future. For now, I’m content to learn and think about these issues from an intellectual standpoint. I do believe though that personalized medicine in some form is the way of the future. Whether or not we will be able to buy at-home kits in the future, we probably will and should make use of our genetic information to better inform our medical choices. It would be a shame to throw away all that valuable information.
I don’t think FDA regulation is necessarily going to kill the field. In fact, I feel that all the recent craziness over DTC genetic testing represents growing pains for the industry. It has so far been somewhat a niche industry (most of my non-scientist friends appear to be unaware of at-home genetic testing kits), and I see this as the industry coming into the mainstream. The leading companies have stated they will work with the FDA to develop a set of standards for the industry, and I think standards will actually help to increase consumer confidence. Make the kits more “official”, if you will.
I am looking forward to further developments. This is the future of biology and medicine and it’s really exciting to watch.