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Accessibility vs. Expertise: Direct-to-Consumer Testing Sparks Debate

Drugstores stock tests that gauge blood sugar levels, predict ovulation, ascertain pregnancy and determine whether illegal drugs are in the bloodstream. And back in May, the Walgreens pharmacy chain announced that it would offer testing kits of another kind: ones intended to detect genetic diseases.

Within days of Walgreens’ announcement, however, the retailer tabled its plan to stock Pathway Genomics testing kits, after the U.S. Food and Drug Administration sent Pathway a letter, explaining that the products seem to fit the definition of a medical device, which would require FDA clearance. The letter asked Pathway to produce proof of such clearance or an explanation of why it believes that such approval is not required. Similar letters were sent to other purveyors of genetic testing kits, including 23andMe, Navigenics and deCode.

Pathway voluntarily suspended the online sale of its testing kits, and its genetic screenings now must be ordered through a physician. But had their kits made it into Walgreens stores, those interested in determining their risk of developing certain illnesses, responding poorly to drug regimens or having a child with a genetic disease could purchase saliva collection kits for $20–$30. Saliva specimens could be sent to a Pathway laboratory, where they would be analyzed at a cost of $79–$249, depending upon which conditions customers wanted to be tested for. Carrier screening for a number of genetic diseases that disproportionately affect Ashkenazi Jews would have been among the options.

Genetic testing kits claiming to measure a person’s propensity for diseases such as Alzheimer’s, Parkinson’s and breast cancer — as well as determine carrier status for “Jewish genetic diseases,” such as Tay-Sachs, Canavan, Gaucher and familial dysautonomia — have been available online for several years. But the prospect of national retail distribution prompted a debate over whether consumers should be able to order genetic tests without first consulting a physician, geneticist or genetic counselor. It has also raised questions about the extent to which the federal government should regulate the personal genetics industry.

Some say expanding the accessibility of genetic testing is a matter of advancing convenience and personal autonomy over decisions related to one’s health. Yet others worry about the potential for providing customers with a false sense of reassurance or causing them unnecessary panic — not necessarily the result of laboratory errors, but because of “limitations of understanding a gene,” said Elizabeth Kearney, president of the National Society of Genetic Counselors.

Kearney said that her organization “would support regulation that would require involvement with a health care provider.”

Kathy Kinlaw, a bioethicist and associate director of Emory University’s Center for Ethics, explained: “Getting information is not a neutral act, and genetic information, like other information, can be a burden. You need to think seriously about what you will do with the information and might there be a harm or risk in knowing. You need to be able to sit down with a knowledgeable person, and think through these types of questions.”

Many of those who oppose the so-called direct-to-consumer model for genetic testing kits described the panic — and the sense of isolation — that could set in if a person were to receive distressing test results and didn’t have access to the support and guidance of a doctor or a genetic counselor.

“If you test positive for something and go online and start reading, you have to know what’s accurate information and what isn’t,” said Rhonda Buyers, executive director of the National Gaucher Foundation. “There’s a lot of junk online, and you could be reading inaccurate information and say, ‘Oh my God, it’s fatal. I’m going to die.’ There could be treatments that you’re not hearing about.”

But Misha Angrist, an assistant professor at the Duke Institute for Genome Sciences & Policy, said that requiring health care providers to serve as gatekeepers for genetic information is unrealistic. “Within not that many years, the technology will be such that people can do this in their garage, and to say that you should have to go through a doctor is naïve,” he said, citing the limited number of medical geneticists and genetic counselors. “The infrastructure of medical genetics is not up to holding everybody’s hands.”

Angrist has said that he would support a ban on submitting someone’s genetic specimen without their consent, and statutes requiring companies to provide affordable access to genetic counselors — a service already offered by some of the companies.

And some form of federal regulation of the personal genetics industry is looking increasingly likely.

In July, the FDA held a public meeting on the oversight of laboratory-developed tests, a category into which direct-to-consumer genetic tests fall. At the meeting, dozens of health care professionals, scientists and representatives of genetic testing companies gave public presentations.

Adele Schneider, medical director of the Victor Center for the Prevention of Jewish Genetic Diseases, raised concerns during her talk over the efficacy of some direct-to-consumer tests, and asked regulators to “clarify what detection rate constitutes a valid test.”

Schneider also relayed her concerns about using saliva specimens to test for Tay-Sachs. She said that because an enzyme blood test — not a DNA saliva test — is the best way to determine carrier status for Tay-Sachs, some of the test kits on the market could give people false comfort that their children will not be born with the disease. “In a year or two, we’re going to see babies born with Tay-Sachs to people who thought they were tested the right way,” she told the Forward.

The FDA gathering was followed two days later by congressional hearings on the public health consequences of direct-to-consumer genetic testing. Representatives from Pathway, 23andMe and Navigenics testified.

At the hearings, members of the House Committee on Energy and Commerce focused on a recent Government Accountability Office report that questioned the reliability of direct-to-consumer tests and called attention to what it called the industry’s “deceptive” marketing practices.

At the hearings, Rep. Bart Stupak, a Michigan Democrat, went so far as to call genetic testing kits “snake oil.” Rep. Phil Gingrey, a Georgia Republican, noted the potential for those distraught over their test results to “jump off a building.”

Angrist said that Congress and the GAO seemed interested in painting genetic testing companies in a negative light. He said they failed to distinguish between responsible companies, like those that testified, and companies “promising to look at people’s genes and then selling them expensive supplements they don’t need.”

Calls made to Pathway, based in San Diego, Calif., were not returned. An automated message directed media inquiries to its website, where its official response to the GAO and the congressional hearings is posted. “[W]e believe that GAO’s report and testimony presented an incomplete and misleading picture of the scientific rigor and utility offered by Pathway specifically, and genetic testing generally,” the statement said.

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