FDA continues scrutiny of DTC genetic tests

September 15, 2010

Underlying a recent FDA-hosted public meeting and workshop was the question of how FDA as a regulatory agency should increase its current oversight of clinical laboratories, specifically those developing genetic tests that may be offered at their own facilities or made available through direct-to-consumer channels.

Key Points

On July 19 and 20, 2010, FDA hosted a public meeting and workshop for comment on issues pertaining to direct-to-consumer (DTC) genetic testing. Underlying the process was the question of how FDA as a regulatory agency should increase its current oversight of clinical laboratories, specifically those developing genetic tests that may be offered at their own facilities or made available through DTC channels.

Laboratory-developed tests (LDTs), such as the consumer genetic test from Pathway Genomics briefly considered for retail distribution through Walgreens, are on the rise and have aroused increasing FDA scrutiny. Currently, clinical laboratories are regulated and certified by FDA according to the 1988 Federal Clinical Lab Improvement Amendment (CLIA) "to ensure the accuracy, reliability and timeliness of patient test results regardless of where the test was performed."

The first day of the meeting focused on LDTs, followed by a forum on the second day for industry, trade, and advocacy groups offering testimony on the pros and cons of DTC tests.

Experts' concerns

Following the presentations, DTC summary session moderator Muin J. Khoury, MD, PhD, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention (CDC), asked for a team of expert genomic panelists to voice "their concerns for DTC tests in general." He asked that they "explore the potential benefits and harms, as well as the costs [of DTC tests], given that DTC potentially could lead to misinformation, consumer fraud, or things of that sort."

An overview and clarification of current FDA regulatory policy was provided by panelist Ann Willey, PhD, JD, Office of Laboratory Policy and Planning, New York State Department of Health. FDA regulates DTC marketing, Willey said, whereby product availability, usually of pharmaceuticals, is marketed directly to consumers, but can be accessed only through the channels of a physician. There is a model within the FDA for medical devices, she said, that also allows DTC access to tests, through the agency's approval process for over-the-counter laboratory testing devices, such as simple home cholesterol, home glucometer, or pregnancy tests.

A new model needed

However, "When we move into direct access to tests performed in a laboratory," Willey said, "and the marketing is done by an intermediary, not by the lab that is going to do the test, perhaps an entity that is going to interpret the data, we're really talking about a different kind of testing."

Therefore, she said, the DTC marketing of LDTs - a category that covers most genetic tests, she said - is "not going to fit in the model the FDA has used in the past, of a simple reliable, self-directed test." DTC marketing of these LDTs is fraught with issues not seen with traditional over-the-counter (OTC) tests that patients can perform themselves, Willey said.

A question of information

Vance Vanier, MD, president and CEO of Navigenics, a company that offers genetic risk-marker testing, suggested that concerns over DTC issues really "revolve around information," raising questions about who should order genetic tests, who should have access to the results, and who should be "owner" of the information. Vanier cited comments from various speakers, such as Anne Wojcicki, co-founder of Google-backed 23andMe, a biotech company offering consumer genetic testing, who presented cases substantiating improved compliance when patients are involved in directing their genetic information and healthcare decisions.