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The new genetic tests approved by the FDA can help individuals by identifying a disease risk but they don’t diagnose, executives from disease-focused nonprofits stressed to Bloomberg BNA.
The Food and Drug Administration announced April 7 it has approved for marketing 23andMe‘s Personal Genome Service Genetic Health Risk (GHR) tests for 10 diseases or conditions, including Alzheimer’s, Parkinson’s and blood clots. These are the first direct-to-consumer (DTC) tests authorized by the FDA that provide information on an individual’s genetic predisposition to certain diseases or conditions, Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, said in a statement, adding that “genetic risk is just one piece of the bigger puzzle.”
Executives for nonprofits dedicated to finding treatments for the 10 diseases were thankful for the risk detection and education opportunities the approvals offer but also were cautious. “Early diagnosis is critical to care planning and engagement in research for people with Alzheimer’s or related dementias, and their caregivers. We must be exploring new technologies like 23andMe, which educate about risk and empower citizen science,” UsAgainstAlzheimer’s co-founder and chairman George Vradenburg told Bloomberg BNA in an April 11 email. “In Alzheimer’s, however, genetics is not destiny. Many of the risk factors for Alzheimer’s are modifiable, so regardless of genetic test results, there are behavioral changes we can make to improve brain health.”
The FDA indicated its approval of these tests would allow other, similar ones to enter the market more quickly and easily.
Other executives of disease-focused nonprofits welcomed the new tests on the market, but also offered caveats.
Randolph B. Fenninger, chief executive officer of the National Blood Clot Alliance, told Bloomberg BNA in an April 12 email: “Studies have demonstrated that the 23andMe test is accurate. When people use genetic testing, including a test like this that can be used in a person’s home or that is being made available ‘direct to consumer,’ it is important that caution be exercised in the interpretation of any results.”
Individuals who receive test results identifying hereditary thrombophilia should discuss them with a genetic counselor or a health-care professional with expertise in thrombotic disease, Fenninger said. “It will be important for individuals who might use the 23andMe testing to get medical professional counseling about the meaning of the test results so that they can make good decisions based upon them.”
“Direct-to-consumer genetic testing can help to identify who is at risk for developing Parkinson’s, but cannot predict who will be diagnosed,” John L. Lehr, CEO of the Parkinson’s Foundation, said in an April 7 statement. “The Parkinson’s Foundation recommends that people who are interested in testing first seek guidance from their doctors and from genetic counselors to understand what the process may mean for them and their families.”
A customer taking a GHR test spits into a tube and then sends it to 23andMe. The DNA from the saliva sample is isolated and then tested for more than 500,000 genetic variants. The presence or absence of some of these variants is associated with an increased risk for developing any one of the following 10 diseases or conditions:
The FDA’s approval of 23andMe’s 10 tests marked a turnaround for the agency regarding the company’s products and DTC genetic tests in general.
On Nov. 22, 2013, the FDA ordered 23andMe to immediately stop marketing its Saliva Collection Kit and Personal Genome Service (PGS) 07 LSLR, 11/29/13 . In February 2015, the agency gave 23andMe approval to sell a screening kit to detect whether individuals carry the risk of Bloom Syndrome, a rare genetic disorder 09 LSLR, 3/6/15 , ending a long standoff between the company and the agency. But over the next two years, the FDA sent warning letters to other DTC genetic test companies for selling their products without FDA approval 10 LSLR, 1/8/16 .
Anne Wojcicki, 23andMe’s co-founder and CEO, told Bloomberg TV and Video April 7 about the hurdles the FDA set for the company for these approvals: First, 23andMe “had to prove that the data [are] accurate” and second, that all educational levels can take these tests. In its approval announcement, the FDA cited a user study that showed people using the tests understood more than 90 percent of the information presented in the reports.
Wojcicki said the company focused on Alzheimer’s and Parkinson’s because they are the conditions that produce the most requests for information. She observed that the company’s tests aren’t prompting more visits to the doctor but they are generating more lifestyle changes.
Mark Barnes, a partner at Ropes & Gray LLP, Boston, former executive vice president at St. Jude Children’s Research Hospital and current Bloomberg BNA advisory committee member, told Bloomberg BNA in an April 12 email: “It was reported in previous cycles that 23andMe had not provided FDA with adequate evidence to substantiate the validity of findings reported back to its customers. But this FDA approval must mean that 23andMe has now provided data that validate its analytic algorithms used in these 10 tests. Hopefully, this FDA approval indicates that 23andMe has turned a corner in its regulatory compliance.”
The FDA said as a result of the approval of the 10 tests, it intends to exempt additional 23andMe GHR tests from the FDA’s premarket review, and GHR tests from other companies may be exempt after submitting their first premarket notification. This would allow other, similar tests to enter the market as quickly as possible and in the least burdensome way, after a one-time FDA review.
But the FDA said these exemptions wouldn’t extend to tests that are used primarily for diagnostic purposes. This supports the concerns of nonprofit executives contacted by Bloomberg BNA who stressed that the approved tests evaluate risks for a disease or condition on the basis of a DNA analysis but don’t present a diagnosis.
The FDA’s Shuren said the agency reviewed data for the 23andMe GHR tests through a regulatory pathway for novel, low-to-moderate-risk devices that aren’t substantially equivalent to an already legally-marketed device. Authorization of the 23andMe GHR tests was supported by data from peer-reviewed, scientific literature that demonstrated a link between specific genetic variants and each of the 10 health conditions.
To contact the reporter on this story: John T. Aquino in Washington at firstname.lastname@example.org
To contact the editor responsible for this story: Randy Kubetin at RKubetin@bna.com
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