- The Food and Drug Administration has approved for the first time a direct-to-consumer (DTC) genetic test that identifies the presence of a few mutations that could put patients at increased risk of having certain cancers.
- Using a spit sample, the take-home test determines whether a patient has any of the three BRCA1/BRCA2 mutations most commonly found in people of Eastern European Jewish descent. Women with such deviant DNA are more likely to develop breast cancer, while men who have it are more likely to develop breast or prostate cancer. The FDA noted, however, that there are more 1,000 known BRCA mutations, meaning 23andMe Inc's test shouldn't be a substitute for routine cancer screenings with a doctor.
- "While the detection of a BRCA mutation on this test does indicate an increased risk, only a small percentage of Americans carry one of these three mutations and most BRCA mutations that increase an individual’s risk are not detected by this test," Donald St. Pierre, acting director of the FDA's Office of In Vitro Diagnostics and Radiological Health, said in a statement Tuesday.
Genetic testing was, up until recent years, largely reserved for patients with rare conditions or deep pockets.
But things have changed. The tests are now quite popular, with companies like 23andMe and Ancestry.com LLC offering a window into the past for sometimes less than $100 a pop.
That may be exciting for consumers looking to learn about where their family comes from or to better understand their risk for disease, but it also carries concerns. Privacy policies of consumer-focused genetic testing companies have raised some alarms, calling into question who exactly owns a patient's genetic information.
On a larger scale, there's the threat that if a person's genetic information falls into the wrong hands or is viewed in the wrong way, it can have serious repercussions. The threat is great enough, in fact, that in 2008 Congress enacted the Genetic Information Nondiscrimination Act, seeking to shield Americans from unfair treatment due to the potential health implications of their DNA.
The FDA too has been cautious of DTC genetic testing. In 2013, the agency issued a warning letter to 23andMe for marketing its Saliva Collection Kit and Personal Genome Service without proper clearance.
Since then, however, the company appears to have come into a better standing with the regulator. 23andMe gained last April to market its Personal Genome Service Genetic Health Risk reports — which assess whether a patient is at risk for 10 diseases, including Alzheimer's, Parkinson's and hereditary thrombophilia. And Tuesday's thumbs up hands the company another DTC-ready product.
"Being the first and only direct-to-consumer genetics company to receive FDA authorization to test for cancer risk without a prescription is a major milestone for 23andMe and for the consumer," company CEO Anne Wojcicki said in a March 6 statement.
"This authorization is incredibly valuable for those who might not be aware of their Ashkenazi Jewish descent or aren't familiar with their family history of cancer," she added. "But it’s important to understand that the majority of cancer is not hereditary, our test does not account for all genetic variants that can cause a higher risk of cancer, and people should continue with their recommended cancer screenings."
In its approval, the FDA warned healthcare professionals against directing patient treatments based on the results from 23andMe's test. What's more, the agency said "The use of the test carries significant risks if individuals use the test results without consulting a physician or genetic counselor."
More than 2% of Ashkenazi Jews carry the three hereditary BRCA1 and BRCA2 mutations that put them at higher risk for breast, ovarian, and prostate cancer, according to research published in the New England Journal of Medicine and cited by the FDA.