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SACGHS to Continue Review of DTC Genetic Testing Recommendations Through at Least October

NEW YORK (GenomeWeb News) – A Department of Health and Human Services committee is still working on its recommendations for the HHS secretary on how to oversee the infant industry of direct-to-consumer genetic testing — including whether some of these tests should be considered medical devices and regulated as such by the Food and Drug Administration.

The Secretary's Advisory Committee on Genetics, Health, and Society today reviewed a draft report on "Direct-to-Consumer Genetic Testing," which has been in development since last summer and provides recommendations for HHS Secretary Kathleen Sebelius on reviewing how these tests function and how they are marketed.

The committee today debated whether these tests should be considered medical devices, and what it would mean if they were to be classed as such, and may ask its task force to agree on definitions that cover how or when certain genetic information is medically relevant and when it is not.

The group agreed to reconsider a number of recommendations and review them at the next SACGHS meeting, in October, before making such a decision about classifying these tests.

The committee also may draw up a brief that identifies three or four main focal areas about DTC testing for the HHS secretary, and forward that to her along with its full report. The goal for that move would be to make Sebelius aware of some of the central issues the committee has identified, even though the group may not be prepared to make full recommendations on them.

On the question of medical relevance, the committee members generally agreed that most DTC companies appear to be claiming that they are not making medical claims, but noted that some of them are.

"I don't think the issue is so much genetic testing as it is medical testing," SACGHS Chairman Steven Teutsch said.

"If people want to get their ear wax type, be my guest, but when [companies] are [testing] mutations for breast and ovarian cancer and then claim it is not medical testing," that could be problematic, he added.

"To me, clearly the most important issue in the whole arena is reconciling claims with reality," he said.

But the committee was not in full agreement on whether genetic tests should be considered medical devices.

"I'm not aware that we’ve ever decided that direct-to-consumer testing was a medical device. I have a lot of concerns about that," said Paul Billings, director and chief scientific officer of the Genomic Medicine Institute.

Billings said that the documents the committee has drafted so far have not addressed whether these tests should be considered in such a way.

He also said that the committee seemed "stuck on the issue of whether a company can offer testing for high risk for cancer and have a statement on the bottom of the page that says this is not a medical device; they're just not compatible."

Billings said that if the group decided to call DTC gene tests "medical tests" then it would be "a powerful statement that we have not made before" that would create a new set of issues. "Do they need the same type of oversight? Are we trying to say that these tests in general should be performed in a CLIA-certified lab?"

The SACGHS recommendations that apply to genetic testing and DTC were presented to the group this morning by Sylvia Au, the Hawaii State genetics coordinator. The recommendations address how these tests, including those marketed by companies such as Navigenics, 23andMe, and Decode, should be measured for their analytical and clinical validity and utility, as well as consumer awareness of what these tests do and do not do.

Many of these utility and validity recommendations were developed previously in relation to genetic testing more broadly, Au said, beyond those tests that are marketed directly to consumers.

But DTC tests present particularly unique issues and there remain some areas that still require scrutiny. Au and others were tasked in March to identify these particular areas for which the committee has not yet developed any recommendations.

These include: privacy protections that are either unclear or insufficient; inadequate protection for research use of specimens and data derived from them; limited data on the psychosocial impacts of DTC genetic tests; the potential for these tests to exacerbate existing health disparities in society; and a lack of standards for genetic variant technologies, and their selection, validation, and assessment.

The committee agreed to continue to review these unique concerns and to revisit them, along with the issues concerning validity, utility, advertising and others, in October.

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