Recently, PatientsLikeMe sent a message to our members about an opportunity to participate in the Impact of Personal Genomics (PGen) Study, led by researchers at Harvard and the University of Michigan. Each of the 1,000 study participants receives personal genomic testing services at a significantly subsidized discount. Using a series of surveys, the investigators will then look at the risks and benefits of learning this information. What, for example, will participants do with their discoveries? Will they make health behavior changes? Will they tell anyone – and if so, who?
PatientsLikeMe member PF Anderson decided to not only join the study, which has now reached its maximum enrollment, but to also start a blog about her experience. Find out why and much more in our interview below.
1. What led you to participate in the PGen study?
The “why,” for me, had three main drivers. First, I’ve been ill for over a decade, and only recently tracked it down to what appears to be celiac disease, but all the blood tests have come back negative for both celiac and gluten-intolerance or wheat allergy. Second, I am both a medical librarian and an emerging technologies librarian. I firmly believe in supporting research both by doing it and also by serving as a subject when appropriate. This project matches my professional interests in several areas, not the least of which has been an emerging awareness of the essential nature of personal genomics and big data to moving research and discovery forward, especially in the areas of rare diseases. Third, curiosity. My family seems to be packed to the gills with various genetic conditions, and I’ve always thought we’d make an interesting study!
2. Talk about the decision to blog about the study as well.
Why blog? Because, assuming that this IS an important area for research to change the lives of real people, then it is absolutely critical to educate, inform, and openly dialogue about the risks and benefits of personal genomics. Some people I talk with are quite worried about some aspects, while others aren’t even thinking about potential risks! I’m in the middle. I know there are risks, I’m aware that the benefits we hope for in the long term aren’t here yet, but I believe we have to start somewhere to get where I hope we’re going, and someone has to take the risks to hopefully shift the balance.
I hope that the more of us do this, and talk about it, that this will help other patients and individuals think through why they would or would not want to learn this. Also, while I am enormously impressed with the WeConsent.Us website for its information about the risks and benefits of personal genomics and sharing personal data, there is something about telling a story from a real person in their own words that has more impact. Hopefully my own thoughts and story will enrich what WeConsent.Us is doing.
3. You recently received your genetic results. What’s that been like?
Frankly, the results so far have been pretty disappointing. There are two branches of the study, one using the testing service Pathway Genomics, and the other using the testing service 23andMe. Each of the two companies runs saliva scans for different conditions, as well as other information. The primary conditions of interest for me were not included in the scan by Pathway Genomics. The results were interesting, but not very relevant. What was most interesting is that, according to the results, for the flock of conditions that run in my family, I am not at risk for ANY of them, including some I am already diagnosed as having. That seems rather surprising, so I am puzzling this over. I suspect that these are actually related to the core condition [celiac disease] that the scan didn’t include.
I am also a little worried that if I share my test results with my doctors, and the results show that I “don’t have” or am not at risk for these various conditions that run in my family, that the healthcare team might be less vigilant in monitoring these. Because of worrying about the risks of my healthcare team misunderstanding the results and needing the celiac test, I decided to actually spend my own money on getting the other [23andMe] scan. I’m nervous about the money, but I really feel that the information from the one test is incomplete without the other, and the risks of the incomplete information undermine the value of the original test.
4. At PatientsLikeMe, you’ve been able to chat with other PGen study participants in the forum. What have you gained from that?
The forum conversations have been fascinating! It is really interesting seeing what sort of questions other people have, their reasons, their assumptions, the information that they bring to the table. Many of the conversations there have triggered new questions for me, and opportunities to learn more.
5. If you had to pick one key takeaway from participating, what would it be?
We aren’t “there” yet, but if we ever want to get “there,” we need to start somewhere, and that’s here and now.