One of the great things about Twitter is that it alerts you to new papers and discussions of those papers that you’d otherwise not be privy to. Sadly, the 140 character limit badly stunts those discussions just when they are really warming to a good topic, as happened here:
Since I found this paper very interesting and applicable to my professional experience and personal experience as a participant in the Personal Genome Project, I read it—and then I personally took the survey on which it was based.
Unfortunately, about 5 minutes into the exercise, I was surprised when the “survey” actively challenged one of my answers. That is, it attempted to caution me that what I was in favor of, and I quote, “…is likely to be very expensive and time consuming. This may mean that the research is compromised.”
Maybe I have some assumptions with respect to the use of scientific surveys that form the basis of publications in peer reviewed journals that are a bit old-fashioned, but it seems obvious to me that this survey instrument is not really a survey at all if it seeks to guide the responder’s choices by 1) supplying added information that may change a response and 2) making claims that suggest there will be negative consequences because of a response.
Imagine for a moment that this survey was about diet and not about the incidental findings of genomics research. And suppose it asked the respondent how many servings of “crisps” (I just love sticking with the very British tone of this thing) they ate? Imagine, if after admitting to eating 8 servings of crisps each day, the survey instrument then prompted, “Eating that amount of crisps is unhealthy and is likely to make you very obese. Are you sure that you really eat that much?” The psychology of this situation is very well understood—a substantial percentage of people will slant their responses in order to seem to be good, normal persons as opposed to bad, unhealthy persons. Or in the case of genomics research, one certainly would try to avoid having an opinion that causes things to become very costly and time consuming, compromising genomics research.
Not only does this survey seek to instruct and then query, but I question very much the accuracy of the information it provides. There is free software available on the internet that can easily be used to call every SNP in the human genome. Or more to the point, to identify every known disease-associated mutation in the Online Mendelian Inheritance in Man (OMIM) which will supply more than 10,000 possible incidental findings. It is actually NOT very costly or time consuming to supply this information to each participant in a genomics research study, and a system could be established to automatically deliver boilerplate explanations and followup recommendations for these disease associated mutations, which brings us to the really relevant point of this all.
Any participant, in almost any medical research study of any kind, is going to receive a hands-on physical examination by a physician. This exercise is as old and stereotypical of anything in medicine today. Such an examination certainly has costs, but we recognize those as essential costs of conducting proper medicine and patient care. Further, we would never have a discussion as to whether any abnormalities that were unexpectedly observed during that exam should be shared with the patient—of course they should be shared. Those that seem to have some risk should be actively followed up.
Examining a patient’s genome is not really any different—it is simply a matter of volume. While a physical exam could return perhaps 100 findings, a genomic exam will return tens of thousands. By quickly sieving those through the available software mentioned earlier, it is not costly or burdensome to supply the patient with a brief written summary of what is known about the genetic findings that have been made, ranked in their order of importance or actionability. The idea that a genomics researcher could just decide not to do that is very irresponsible. But then, so is constructing a survey that seems to actively go fishing for a set of opinions that will justify this lazy attitude that there is no expectation on the part of the patient to ever be told this information either.
It is my experience that patients want to be told every important medical observation that could have an impact on their health and well being. The fact that this may need to be presented on a CD—that’s just how it is with genomic medicine.