It was an outgrowth of the ongoing revolution in personal genomics that enables a consumer to learn that he or she is at increased risk for such ailments as breast cancer or Alzheimer’s disease through relatively simple, inexpensive laboratory testing. One of the benefits of this statute was to enable people to undergo such testing free from fear that the results might get them fired or render them uninsurable. Unfortunately, in a bizarre backlash against the genetic revolution, overzealous regulatory agencies are threatening to prevent consumers from discovering the contents of their own DNA.
Two years ago, the New York State Department of Health launched the first large-scale crackdown on direct-to-consumer testing companies such as Navigenics and 23AndMe, sending out cease-and-desist letters that warned of hefty fines and jail time. The authorities insisted that the do-it-yourself kits these firms supply constituted “the practice of medicine” and required that any such tests be authorized by licensed physicians. As a result, all of the leading direct-to-consumer (DTC) labs withdrew their services from the New York market. If you reside in New York state and wish to learn the secrets of your own DNA, you have just two choices: You can move elsewhere, or you can lie. Maryland subsequently enacted similar restrictions. California, where many of the leading DTC firms are based, initially imposed a total ban but has since adopted licensing requirements that allow some labs to continue to serve in-state customers.
Federal regulation of DTC genetics also appears increasingly likely. In June, the FDA sent letters to the leading test companies demanding “pre-market review” of their products. In response, Walgreens shelved plans to begin selling test kits to consumers in the 48 states where they remain legal. Of greater concern, the House of Representatives - specifically, the Subcommittee on Oversight and Investigations of the House’s Committee on Energy and Commerce - initiated an investigation of DTC genetics last summer that may lead to a national prohibition. Rep. Parker Griffith, Alabama Democrat, the most outspoken opponent of such testing, was defeated in his primary, but the subcommittee’s investigation remains ongoing.
So what exactly do personal genomics opponents fear? Their concern is not that the testing itself is dangerous or even that the data is inaccurate, but that vulnerable consumers in their naivete and ignorance will misinterpret or misapply the results. They argue that a person might find himself at increased risk of Alzheimer’s disease as a result of carrying an ApoE4 gene and descend into despair or commit suicide. Of course, a person might as easily use that data productively - setting aside money for long-term care or donating to Alzheimer’s research. Alternatively, a wise consumer might do nothing with that data, as the test reveals a mere susceptibility, not a guaranteed outcome.
The media and critics - often medical authorities vested in protecting their own turf - make the most of occasional abuses in the industry, most notably a recent incident in which an astoundingly dimwitted counselor told a concerned caller that having an “above-average risk” of breast cancer meant “you’d be in the high risk of pretty much getting it.” That is certainly appalling. Of course, the thousands of consumers who acquire valuable personal information from DTC genetic testing do not make the newspapers.
The underlying belief of DTC opponents is that laymen are incapable of handling their own genetic information without the assistance of physicians. As a physician myself, I cannot help but fear that this approach smacks of the worst aspects of medical paternalism. We may soon find ourselves living behind a genetic Iron Curtain whose drawstrings are held by a cadre of white-coated Platonic guardians. Despite the public triumphs of the genetic revolution, our genetic liberties are slowly and silently slipping away.
Dr. Jacob M. Appel is a physician and bioethicist at Mount Sinai Hospital in New York City.