From the New York Times: Another Tiresomely Misleading Bioethical Attack on Personalized Genetic Testing

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.

That’s still the case, although that has unfortunately not
stopped the
Food and Drug Administration from banning direct-to-consumer
genetic testing from
23andMe.