Today, the New York Times has published yet another article aiming to prove to readers that genetic testing, especially direct to consumer testing, is useless and perhaps even misleading. In her article, "I Had My DNA Picture Taken, With Varying Results," by Kira Peikoff, a bioethics graduate student at Columbia University, takes genotype screening tests from three different companies is, shocked, just shocked, to discover that the results do not all agree.
This stunt has been pulled before, most notoriously by the Government Accountability Office (GAO) back in 2010. In my article, "A Genetic Testing Dupe?," reporting on the GAO's study, I too noted that I had received differing results from the two testing companies I had used. Was I misled? Not at all.
I explained that the companies tested for different allele variants related to disease risks, which they clearly explained in their reports to customers. In my case the two companies I used disagreed about my risks for colorectal cancer, melanoma, and heart disease - all of which is explained by the way the companies select research data for determing those variant alleles for which they test.
Ms. Peikoff, to her credit, also explains this, but then pretends that it is somehow confusing. She then goes to on explain that environmental exposures also play a big role in future disease risks. Please tell us something we don't know.
As I reported in my article, I had already had a polyp removed, suffered a second-degree sunburn as a child, and my parents died of heart disease, so I would be taking those facts, as well as the genetic information the companies supplied, into account as I thought about my disease risks. As I concluded:
The differential tests results do not bother me, and I would be surprised if many gene testing pioneer customers find the information they receive all that confusing. The results are probabilistic calculations based on a selection of low risk susceptibility alleles. The right way to think about the current direct-to-consumer genotype screening tests is that they are a preliminary technology. They offer supplementary, not dispositive information about various health risks. The tests are not perfect, but they are the beginning of the process through which consumers, physicians, and purveyors will learn how to better interpret and use genetic information over time.
We are in the Apple II era of genetic testing. It would have been silly to ban the Apple II just because it was not as easy to use or immediately comprehensible as the MacBook Air. Standardization of test results will come as more information about the interaction between genetic variants and environmental influences accumulates. The current tests function as training wheels for curious consumers who will be using the whole genome and epigenetic screening tests that will be widely and cheaply available by the end of this decade. As one of those curious consumers, I don't want or need federal regulators to protect me from my own test results.