Arthur Kaplan, PhD, director of the Center for Bioethics at the University of Pennsylvania, has authored an opinion piece on MSNBC pooh-poohing personalized genomic testing with the catchy neologism “spitomics:”
That’s what I call the growing and lucrative field of personalized genetic testing, which asks you to spit into a plastic cup and then send the sample off to a lab.
Kaplan’s argument includes a valid point – inaccuracy and over-interpretation are problems, as this GAO report (.pdf) notes – but I think he oversimplifies a complex debate, doing an injustice to personalized genomics’ potential for improving human health. He writes:
Most of what we know about the genetic basis of disease risk rests upon a narrow sample of the population. Genetic studies are small and tend to fail to capture large categories of people, like ethnic minorities, for instance . . . So saying you can sell a test which can forecast the average Japanese-American’s risk for Alzheimer’s disease or the average Cuban-American’s risk for heart disease sits on an evidence base that is, to be very kind, completely shaky.
I can’t prove it, but I’ve got this burning hunch that a heavy majority of the people in this country who avail themselves of commercial personalized genetic/genomic are of European ancestry. So the results of the genetic studies Kaplan dismisses may apply quite decently to them, if perhaps somewhat less so to those with different ancestral backgrounds.
Kaplan also rolls out the rickety old “environment uber alles” wagon, heedless of its missing wheels:
Someone who works in a coal mine, smokes three packs of cigarettes a day and lived for five decades downwind from a refinery may have the same genes as someone raised on nothing but fish and vegetables amid clean air, but they’ll each have very different risks of developing allergies, cancer or Parkinson’s disease.
Yes, most people intuitively understand that factors other than their genetic background can affect their heath. But, that said, if you were born with genes that are associated with adverse conditions, wouldn’t you still want to know about it?
Kaplan then takes his case to infinity and beyond, equating genetic-testing firms with con artists and telemarketers:
[T]he current accuracy of the tests can’t tell you anything you would really want to know. . . . Because of that, the government has a proper role to play in making sure that sleazy operators and aggressive entrepreneurs are not simply separating you from your saliva for a handsome fee.
My own past interviewing forays suggest that the folks at the highest levels of Navigenics, 23andMe, and the like, are pretty humble about their ability to dot the Is and cross the Ts with respect to translating genome-wide-association-study results into ironclad rules of thumb regarding our propensities to develop or not develop a disease.
A more temperate discourse on the field of personalized genomics is offered in this New England Journal of Medicine perspective by FDA commissioner Margaret Hamburg, MD, and NIH director and human-genomics pioneer Frances Collins, MD, PhD.