I continue to believe that the discussion surrounding the Direct to Consumer (i.e. DTC) genomic testing is basically a healthy thing (pardon the pun). It seems to me to be a window into the larger conversation about the role of health care in society and evidence that we do pretty well in letting information flow freely. I think that’s a good sign of a free society.
The DTC genomics testing debate seems to have looped in a group of people that are: a) health conscious, b) sophisticated, and c) medical non-professionals. These folks are interested in taking advantage of the health empowerment that information technology and genomic technology have provided. In this endeavor, they are bumping up against the health care system, which is fairly conservative and has its own status quo. This latter element is certainly something those sophisticates who have been empowered by genomic technology (via DTC genomics companies) are not necessarily interested in minding. The good news is that the debate around genomics and health care empowerment has been civil so far. The court in which the debate is being conducted is the halls of the US Food and Drug Administration.
The FDA had a meeting…
In between the summer of 2010 and the US FDA’s meeting in March 2011 to hear feedback regarding DTC testing, Amy McGuire and colleagues published an article in Science proposing a mechanism for regulating these new genetic tests. Essentially, McGuire et al proposed a “risk-based stratification” of regulation of these tests. This means that tests thought to carry higher risks of harm will faced tighter regulation. For example, testing for breast cancer predisposition might be subject to significant oversight because women face the risk of surgery or other significant and potentially harmful healthcare consequences based on the outcome of the test.
On March 8-9, the FDA’s Molecular and Clinical Genetics Panel heard testimony from a variety of stakeholders of DTC testing. On one side, as one would expect, were the DTC genomics testing providers arguing that these tests should not be regulated out of hand. In fact, the representatives of these companies seem to be willing to accept the risk-based stratification approach that the FDA appears to be leaning toward. Their backers further argue that individuals should have access to their own genetic information and that the FDA should not come down hard on a promising new industry.
On the other side were some significant groups, such as the American College of Pathologists, who argued that lax regulation could be harmful to consumers. The significant risks of DTC genomic testing were pointed out, including privacy concerns and inadequate support for the inevitable health-related questions from the recipients. These folks also raised other interesting new concerns that need to be vetted. For example, inappropriate dissemination of genetic information could be harmful, both to the tested individual (through inappropriate use by employers and insurance companies) and to their relatives who share some of their genotype.
Others brought recent information to the FDA panel. Subsequent to the initial actions by the FDA last summer, a number of studies have been performed to examine the behavioral consequences of DTC testing among consumers. So far the results have not suggested any systematic negative consequences, such as anxiety, for those who undergo testing.
All told, my sense of the reports from the meetings was that it was a pretty fair exchange of information, which raised legitimate concerns both for and against DTC genomic testing. Yet, there are a lot of questions still to answer about how these technologies will serve society.
What about prenatal sequencing and other ethical questions
Although I don’t have the answer to this question, the recent paper from Lo et al in which the genome of a fetus was sequenced, raises questions about the appropriateness of massive prenatal testing. Prenatal testing for even a single gene faces tough scrutiny, so what do we do when we can test for thousands of gene variants? In this example the testing was for a single gene mutation (beta thalessemia), but the result showed that an entire fetal genome can be sequenced using a blood sample from the mother. One positive here: this testing approach is non-invasive. However, one can imagine the potential demand for prenatal sequencing to determine not only disease susceptibility, but also “soft” traits, like presumed intelligence.
Another question that I think may be under appreciated by people in favor of DTC testing (as pointed out by CAP) is the impact of the results on those genetically related to the tested individual. What if those people, brother and sisters, are not interested in their genotype or would rather not know? Does one have the right to post their genotype on the internet?
An extension of that idea came to life with the West family, in which each of the four members of the family underwent whole genome sequencing. Although the genomic sequences of the kids are not public, one of the parents did submit their genome sequence to the NCBI database of genome sequences, thus releasing half of the genetic info of the kids. Is that a privacy breach?
Another twist to that theme revolves around research on parental choice with respect to DTC testing of their kids. A report from Tercyak et al in the journal, Pediatrics, suggests that parents who themselves undergo DTC testing are more likely to have their kids tested. Parents were also more likely to favor testing if they thought their child was at risk or if they had a positive risk-benefit view of DTC testing (duh!). Given the variability in quality of follow-up with these tests, it seems fair to question the use of DTC genomic tests in children.
Not to overdo it, but what I find interesting in the DTC genomics debate is the renegotiation of power between health care consumers and health care providers. It’s a bigger trend than just DTC testing, as evidenced by broader trends in consumerism in medicine.
One of the key arguments heard from those in favor of DTC testing is that they have the right to know information about themselves. It’s hard to deny the truth in that. But, there is definitely a balance that must be struck between individual liberties and the welfare of society. The discussion of what to do with DTC testing is an interesting place to listen to that discussion in a very personal way.