A reader has pointed me to the latest issue of the American Journal of Bioethics, which is devoted to social networking and personal genomics. I'm still working my way through the many interesting articles, but for now I wanted to cover some useful points in the editorial (entitled "A Pragmatic Consideration of Ethical Issues Relating to Personal Genomics"), which was written by a series of big names from personal genomics company 23andMe, including both co-founders.
The article is designed to address some of the more popular misconceptions surrounding personal genomics; here's a quick run-down of the major points:
Not all variants reported by personal genomics companies are only weakly predictive. It's certainly true that the common variants that form the bulk of the markers tested by personal genomics companies tend to be very weakly associated with disease risk, but the authors note that 23andMe and other providers are now reporting on less common genetic variants with much larger effects on disease risk (I've previously discussed 23andMe's move into breast cancer gene testing).
Genetic information is both exceptional and non-exceptional relative to other types of risk factors. Basically, genetic risk factors are unusual in that they are fixed (unlike, say, smoking status), but otherwise they can be treated just like any other risk factor (e.g. cholesterol levels) in evaluating disease risk.
We cannot predict in advance whether a genetic variant has clinical relevance. This is an interesting one. We often see a clear distinction made between "serious" genetic testing (mainly for disease risk) and "frivolous" or "recreational" testing (for ancestry or predictors of non-disease traits such as eye colour or earwax consistency). The authors note that this division is rather flimsy, and indeed that markers associated with eye colour and ancestry have been reported to be associated with health-relevant traits. They conclude:
Extreme paternalism would suggest that gatekeepers control access to ancestry information or to studies linking normal traits to disease risk, but this level of paternalism could hinder education and active participation in one's own health.
I largely agree; I think we have to acknowledge that any genetic information we permit consumers to have access to may one day turn out to have clinical relevance. As such, creating separate policies for different types of genetic information may prove extremely difficult.
Even information that is not clinically actionable can still be valuable. Another extremely important point: the argument is often implicitly made (typically by clinicians) that genetic testing for conditions for which there is no treatment is somehow not useful, but this information can be extremely valuable for making life decisions: the authors mention "purchase of long-term care insurance, informing family members, supporting [disease] research studies, or other coping efforts".
Data sharing policies should be flexible. The authors cite Facebook's "granular customizability of data sharing" as a model for personal genomics, and argue that this customisability in and of itself can have benefits: "The option--and necessity--of customizing privacy settings can actively engage users to learn about the unintended consequences of sharing."
The notion of online sharing of genomic information is viewed with shock and often horror by many traditional medical professionals accustomed to a rigid model of data protection, but sharing of information with a trusted peer network can have benefits in terms of both emotional support and rapid clarification of misunderstandings. (It's worth noting here that the level of genetic literacy of many personal genomics customers is substantially higher than that of the average medical practitioner, so such networks can draw on a fairly hefty knowledge base.)
I'll hopefully have more to say as I trawl through the remaining articles, many of which look fascinating, but for now I'll finish with the closing quote of an article entitled "We Are the Genes We've Been Waiting For: Rational Responses to the Gathering Storm of Personal Genomics" from the one and only Misha Angrist:
We can and should bemoan the state of genetics education in medical school and figure out how to fix it [...] But when sequencing a human genome costs less than cosmetic surgery and disease-centric social networking is all the rage, the current ranks of general practitioners and indeed, all manner of health professionals, are certain to be put on the spot.
We are all geneticists now.
I really like the point they raise (and you emphasize) that creating different regulatory categories or policies based on our current understanding of the importance or potential impact of the genetic information would be difficult. In light of this, it seems clear to me that the answer is consumer education, not regulation. We should help the consumer understand their results rather than block or hinder access to those results.
It's going to take forever to get through all these articles, but I'm looking forward to every moment of it!
Dear Daniel, essential topic for geneticist and curious people at your science blog. I like it.
So, I would like to say that in our country Slovenia (EU), biotech enterpreneurs and customers have a totally different kinds of problems regarding to DTC testing. The genetic research (DTC) or analysis are not allowed for individuals if they want to know their sequence (just for fun). The genetic analysis is allowed only if the purpose is medical or for medical research. Very inportant is also that before and after analysis, the genetic counceling is provided to patient. This (new) regulation was accepted in 2008 at the same time, when two spin-off companies started their DTC genetic testing service (www.geneplanet.si and www.genelitik.eu), since they want to offer analysis just for fun. Since I am also a blog writer and researcher, I will monitor what will happend in the future. I hope that companies and regulators will offer us the best way to explore our genome in the near future.
Best Regards, Borut (blog://bionovice.blogspot.com)
I've posted my 23andMe and deCODE raw data, summary reports, and Promethease report on the web so my view on risk and confidentiality of sharing data are probably at an extreme end.
What it has allowed me to do is talk to people using a real example of just what you can and cannot learn from DTC tests, what the promises are for genetic research, and that there is a need to fund such work. (we're a not-for-profit research and funding organization so that awareness is pretty important to us.)
If there was a real desire to get the issues, upsides and downsides, and encourage a discussion with the public and with policy makers wouldn't it be nice if the Bioethics issue on personal genomics was actually available to the public?
While I was trying to gain access to the full text it struck me as wildly ironic that a journal issue on personal genomic and social networking was not in fact widely available to personal genomics users and not available at all to social networking users.
I completely agree with the notion that is it education and awareness that is needed, not more regulation but it will take a lot of blog entries and Consumer Genetics Shows to accomplish that education option. Regulation can be pulled off much more quickly !
Dude, let's have a beer!
Hey, I'm an author on one of the target articles and I don't have access! I had to email the editor to get a PDF of my own article.
Dear Small Horse,
As an author of any AJOB article you automatically receive "access" through Taylor & Francis and the details of this were given to you when your article was accepted. If you are still unable to access the article - a situation we've never really encountered before - please contact AJOB at 1-866-360-AJOB. But just FYI speaking as editor I don't think I received a single email from the target article authors requesting a PDF, and I'm pretty sure nobody named "Pony" authored anything :-)