Direct-to-Consumer Genetic Tests and the Right to Know

My daughter recently convinced me to have my first genetic test, after she tested positive for factor V Leiden thrombophilia, a risk factor for blood clotting disorder. My doctor agreed to write an order for the gene test, but she didn't think it would matter much if I tested positive. "After all," she said, "you've lived with it this long."

Waiting for the result, I remember wishing hard that my daughter's mutated gene came from my ex-husband's side of the family, rather than mine. I felt an odd sense of shame at the idea of passing on a bad gene. I was reminded of the old movie about a young murderer called The Bad Seed. Bad genes seemed a stain on my family pride.

Dealing with genetic knowledge is new for many of us, although families with devastating hereditary diseases such as cystic fibrosis and Tay-Sachs have dealt with it for decades. In recent years there's been an avalanche of studies identifying the genes shared by people who have various disorders. Often, the genetic tests become available to the public long before this knowledge has been confirmed or proven useful for predictive purposes. For several years it's been possible to order specific tests or analysis of your whole genome by sending a cheek tissue scraping or saliva sample to a lab. For a fee, some companies will also update the analysis of your genome as new knowledge is uncovered. The price of genetic testing has been falling, but recent efforts to bring it to a wider market have met with resistance.

Pathway Genomics Corporation and Walgreens announced in May that they would offer genetic testing collection kits at the drug chain. The Food and Drug Administration took notice. In a May 10th letter, the agency notified Pathway Genomics that its product, "intended to report customary and personal genetic health disposition results for more than 70 health conditions . . . Appears to meet the definition of a device as regulated under the Federal Food and Drug and Cosmetic Act," thus requiring FDA approval. The company has delayed plans to market the product. A similar letter was sent to five other direct-to-consumer testing companies in June.

Most telling, on July 22, the Government Accountability Office released a study in which it sent identical DNA samples to four genetic testing firms to test for fifteen common diseases and conditions. Contradictory results abounded. For example, various companies told a forty-eight-year-old male that he had average, below-average, or above-average risk for prostate cancer. These contradictions can be explained, in part, by the fact that companies analyzed different genetic "markers," and that scientists disagree about what these mean in real-life situations. However, in this study the risk predictions often conflicted with the donors' actual illnesses and family medical histories. One company said a donor had below-average risk of atrial fibrillation, when in fact he had had a pacemaker implanted thirteen years earlier to treat the disease. And, in a separate GAO study of marketing practices, two of fifteen genetic testing companies used information from consumers' profiles to recommend that they buy expensive nutritional supplements.

Right to Know (or Not)

Not surprisingly, a poll that came out after the Walgreens incident found that 74 percent of consumers but only 29 percent of doctors thought it was appropriate for pharmacies to sell home genetic testing kits. This can be viewed as doctors claiming the turf for themselves, or as their attempt to protect themselves from patients bearing genome printouts and demanding help to interpret and use the results—help that doctors are not prepared to deliver. It may also be a genuine expression of concern that this information, provided out of context, is too complex for individuals to deal with.

Interestingly, this paternalism has not been applied to paternity testing. For an over-the-counter kit costing about a hundred and fifty dollars and a few cheek swabs, a man can find out if a child is genetically his. Somehow the public has shown itself capable of handling this fraught...