Diagnostics

FDA allows 23andMe to reintroduce 10 genetic health risk reports for Parkinson’s, Alzheimer’s, and more

Some 3 1/2 years after having its hand slapped, 23andMe has received a green light from the FDA to market 10 direct-to-consumer genetic health risk reports for conditions such as Parkinson’s, late-onset Alzheimer’s, and celiac disease.

computer direct to consumer Woman working at home on her laptop

It seems the world of direct-to-consumer genetic risk reporting has come full circle.

On Thursday, 23andMe announced that it had received FDA authorization to market its Personal Genome Service Genetic Health Risk (GHR) tests for 10 hereditary disorders.

It’s a tentative change of heart for the agency, some 3 1/2 years after it sent a strongly-worded letter reprimanding 23andMe CEO Ann Wojcicki for marketing the same kinds of tests. High stakes genomic analyses require an FDA-approved medical device, the letter said, and a physician to communicate the results.

After much consultation, certain disease reports are back on the menu. They include Parkinson’s disease, late-onset Alzheimer’s disease, celiac disease, alpha-1 antitrypsin deficiency, early-onset primary dystonia, factor XI deficiency, Gaucher disease type 1, glucose-6-phosphate dehydrogenase deficiency, hereditary hemochromatosis, and hereditary thrombophilia.

A 23andMe spokeswoman said the early picks “proved to be some of the most in-demand reports by customers.”

FDA also noted in its press announcement that the results “may help to make decisions about lifestyle choices or to inform discussions with a health care professional.”

In other words, knowledge about these conditions could be actionable. Patients at higher risk could undergo more frequent screening, for example, or take preventive lifestyle actions.

But many of the reports relate to serious diseases, for which there are no cures.

John Lehr, CEO of the Parkinson’s Foundation, urged people to understand the implications before uncovering their results.

”Direct-to-consumer genetic testing can help to identify who is at risk for developing Parkinson’s, but cannot predict who will be diagnosed,” Lehr said in an official 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.”

Over one million customers have used 23andMe’s sequencing service. Patients use the colorful collection kit to capture and submit a saliva sample. The DNA is then extracted from the sample and tested for more than 500,000 genetic variants.

As a result of this depth, far more information is captured in 23andMe’s raw genetic data than the patient reports show. This allows the company to deliver new insights as the genomics field unfolds — and as the regulatory situation adapts.

“We will provide new or updated reports as genetic discoveries are made and as we are able to authorize new reports for our Personal Genome Service through the FDA,” a 23andMe spokeswoman shared via email. “You can expect to see reports that are of significant interest to current and future customers. Beyond that, we do not comment on our product strategy.”

Jumping the gun

Founded in 2006, 23andMe was part of a wave of personal genomics companies that caught regulatory groups off guard. Guidelines weren’t in place to determine if the tests were a bonifide medical device or diagnostic, or if they were just interesting personal health products.

Pathway Genomics eventually coaxed the bear out of hibernation with its 2010 deal to sell DNA collection kits in Walgreens stores throughout the United States. FDA intervened promptly with a detailed letter, causing the deal to fall through. At the time, the agency was said to be reviewing the industry’s online marketing claims.

23andMe received its cease and desist letter on November 22, 2013, as the agency cracked down on health-related information. A number of issues were cited, including the possibility of false-negatives and false-positives being delivered to patients without context. The test hadn’t been scrutinized for accuracy, it said.

Even then, FDA saw potential in the model. In a December 2013 letter published in the Wall Street Journal, former Commissioner Margaret Hamburg stressed that it was the accuracy and education aspects that needed to be reviewed.

“We agree that access to tests through a direct-to-consumer model will allow consumers to take a more active role in certain aspects of their health. The agency’s desire to review these particular tests is solely to ensure that they are safe, do what they claim to do and that the results are communicated in a way that a consumer can understand.”

For several years, 23andMe put its head down and focused on ancestry information and so-called lifestyle traits (the color of your ear wax; whether your muscles are fast twitch or slow twitch). It also began selling consumer data for drug development and research.

Evidently, they still held hopes of providing real health information. In February 2015, FDA approved 23andMe’s Bloom syndrome carrier test. It was a decisive move. Customers could receive a report on whether they carried a gene variant that could be passed to their offspring and cause a serious disorder.

More and more carrier tests have been added and now, a new frontier has opened up. It seems the agency is slowly adjusting to the pros and cons of modern genomic.

Yet the hesitancy is still palpable, including in the FDA announcement. Jeffrey Shuren, director of the FDA’s Center for Devices and Radiological Health, stressed the need for education.

“Consumers can now have direct access to certain genetic risk information. But it is important that people understand that genetic risk is just one piece of the bigger puzzle, it does not mean they will or won’t ultimately develop a disease.”

That warning will likely be plastered throughout the customer’s 23andMe portal and in the consent forms that they sign. But will the message hit home? “Absolutely” according to the 23andMe spokeswoman.

In designing the 23andMe experience, comprehension was our priority, and heavily tested. As part of the review process, 23andMe met certain thresholds for user comprehension of the key concepts and the possible scenarios conveyed in its genetic health risk reports. This was assessed by user testing across a wide range of demographic characteristics in a controlled lab-based setting. The analytical testing of the 23andMe genotyping process and the ability to correctly identify the variants in each of these reports had to meet accuracy thresholds of 99 percent or higher, per the review process. We provide customers the opportunity to connect with a genetic counselor right from the report page, along with other recommendations including consulting a medical professional, for customers who seek additional information and consultation.

Update: A comment from the Parkinson’s Foundation was included on April 7.

Photo: andresr, Getty Images 

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