Arand's genetics counselor tried to be diplomatic after Arand was diagnosed with breast cancer and brought in her Genovations reports. "I told her the science isn't really fully developed yet and our genetic makeup alone is a poor predictor of future illness and disease," Bauman said.
Companies in this field say their primary product is information, not medical diagnoses or advice. The FDA gave no indication it disagreed with that assessment until its recent warning.
Now, the agency seems convinced that personal genetic tests deliver findings with important medical implications and, as such, should be regulated as medical devices.
"Consumers may make medical decisions in reliance on this information," Alberto Gutierrez, director of the FDA's office of in vitro diagnostics, wrote in the letters delivered last week.
Previously, companies in this field escaped oversight by claiming they offered a type of laboratory analysis that receives almost no scrutiny — so-called laboratory developed tests. The FDA doesn't evaluate this kind of test — mostly used by labs to analyze tissue slices or tumors —- though it claims the authority to do so.
While the Centers for Medicare and Medicaid Services inspects laboratory processes, it hasn't ensured that labs performing genetic tests have special proficiency. The Federal Trade Commission evaluates the legitimacy of companies' marketing claims, but to date the commission has publicly challenged only two firms selling genetic tests.
The result has been the lack of any guarantee that laboratory developed genetic tests deliver medically valid or meaningful results. This is the gap the FDA now appears ready to address, according to Gutierrez's letters.
Asked for a response to recent developments, Mountain View, Calif.-based 23andMe said it disagreed with the FDA's most recent position but was "open to discussions" about how best to regulate the personal genetics industry. San Diego's Pathway Genomics acknowledged its responsibility "to ensure public safety," and Navigenics of Foster City, Calif., cited a history of working closely with regulators.
Several experts said they hoped regulation would be flexible. The genetics revolution is sure to change the face of medicine, and it's important that innovation continue, they said.
A striking example of the two sides of personal genetic testing comes from Dr. Francis Collins, head of the National Institutes of Health, who sent off saliva samples to three leading companies last year under a pseudonym.
On the positive side, Collins learned he had two common genetic markers for Type 2 diabetes and has since dropped 20 pounds, he said at a meeting in October. But the companies' interpretations of his genetic material also differed substantially.
Arand said the limitations of current genetic tests don't worry her. She's counting on her genetic profile serving as a helpful tool for doctors in the future. In a way, she's the perfect customer for genetic testing: willing to take some risks and to be patient as the field develops.
"I know we're learning so much more about DNA every day and it's just going to get better and better," Arand said. "The tests I had may not benefit me today, but because my DNA is never going to change, maybe they'll make a difference later."
About genetic testing
- A few dozen companies offer personal genetic tests directly to consumers. Leaders are 23andMe, Navigenics, deCode Genetics and Pathway Genomics.
- The companies scan an individual's DNA at 500,000 to 1 million sites, a tiny fraction of the 6 billion sites on the human genome.
- Each company uses different genetic markers and complex algorithms to calculate a person's genetic risk of developing disease. Some markers are better established than others, and risk estimates can vary.
- Some companies, such as Genova Diagnostics, sell these tests through doctors but give the option of having results delivered directly to individuals.