by Ed MacBean, Vice President, Pathway Genomics

Pathway Genomics presented this week at the Food and Drug Administration’s (FDA) two-day public meeting of the Molecular and Clinical Genetic Panel to discuss regulation of direct-to-consumer genetic testing.  Even though Pathway is not currently offering its tests direct-to-consumer, we felt it was important to present our ideas for appropriate regulation that would support this emerging business model.

In many ways, this meeting seemed to be a microcosm of the experience of direct-to-customer genetic testing over the last few years. The first day of the meeting was dominated by impassioned speeches about the dangers, uncertainties, and questionable utility of DTC testing. The examples used were not representative of the approach by leading DTC companies, and the panel’s discussions seemed to get mired down in issues like definitions of terms, fears of remotely possible outcomes, inabilities for the public to cope with genetic information, and how significant a result has to be to have utility. Not surprisingly, the emerging consensus of the panel was that including a physician was required to mitigate all of these risks. Meanwhile, the arguments in favor of DTC as a health care model that would possibly improve personal engagement were falling on deaf ears. But, by the end of the second day, it felt like a more reasoned and balanced view of the risks and benefits of the field was beginning to emerge.

The first day of the meeting was dominated by impassioned speeches about the dangers, uncertainties, and questionable utility of DTC testing…But, by the end of the second day, it felt like a more reasoned and balanced view of the risks and benefits of the field was beginning to emerge.

I would love to say that we were responsible for the most important or influential presentation, but I think that recognition belongs to Mary Pendergast.  Mary is now an independent consultant, but she served as Deputy Commissioner and Senior Advisor to the Food and Drug Administration, from November 1990 to January 1998. Her history at the FDA gave her a unique perspective, and her independence in this discussion allowed her to speak with an autonomy and freedom that many of the DTC advocates could not.

I would love to say that we were responsible for the most important or influential presentation, but I think that recognition belongs to Mary Pendergast.

She told me she had a prepared speech, but dumped it after the first day of the hearing, when the panel’s biases against direct-to-consumer testing and protection of the status quo were quite apparent. Mary called out the panel for continuing its history of paternalistic protectionism, ranging from shielding women from their own health in the 1960s to resisting home tests for pregnancy, glucose monitoring or HIV testing.  She pointed out that the health professionals on the panel were true-to-type, that they have the same potential conflicts as DTC companies, and that their opposition can easily be interpreted as a desire to keep the fees for genetic testing and consultation in their own pockets, not a concern for the patient’s best interests. She also pointed out how the flawed GAO report led to much of the recent negative press and dogmatic views surrounding DTC genetic testing.

Mary got the only ovation at the hearing, and she deserved it.

As the hysteria of FDA concerns (of which Pathway Genomics continues to address) and Congressional hearings from the last year have settled, it seems that most are coming towards agreement on the need for a rational degree of regulation, and that same rationality was emerging by the end of the second day of the panel discussions. Dr Elizabeth Mansfield (Director for Personalized Medicine, Office of In Vitro Diagnostic Device Evaluation and Safety) presented a thorough summary of the history of direct-to-consumer genetic testing, during which she suggested that a risk-based approach towards regulation might allow some genetic tests to be sold DTC.  On the first day, the panel was generally recommending against that, but I think Mary’s presentation jolted the committee out of a natural defense of the status quo and forced minds to open up a bit and consider the benefits and possibilities of emerging technologies and business models.

Overall, kudos go to FDA for calling this meeting and providing a venue for further discussion of the key issues relating to DTC genetic testing. There were several sessions in which FDA asked questions of the panel that showed thorough review and forethought of the issues. Further, FDA’s approach was to promote open discussion of the requirements that would be necessary for genetic tests to be sold DTC.  Few, if any, DTC advocates are still making a call for no regulation, and I am optimistic that following this meeting, opponents are more informed about, aware of and open to the benefits of a DTC model that, with the proper degree of regulation and controls, can offer significant benefits that outweigh the risks.

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