Patient Data and Myriad Genetics

A few days ago, the ACLU filed a complaint on behalf of 4 individuals who had genetic testing performed, asking Myriad Genetics to release the individuals' data. Though they did so, after the complaint had been filed, they didn't provide everything the individuals wanted and argue they have a right to:

Genetic testing labs, including Myriad, normally provide clients with information on gene variants that are known to increase the risk of disease (pathogenic), likely to be pathogenic, or of uncertain significance. But nearly everyone also has variants (often called polymorphisms) that are deemed benign—and companies typically don’t send clients information about those variants. But as researchers pool data from thousands of cancer gene tests, some of those benign variants may be reclassified as dangerous, or may become informative in ways that hadn’t been anticipated. That is one reason some of the patients involved in the complaint wanted Myriad to provide all of their genetic data, and not just the information on the pathogenic variants.

In the complaint, ACLU and the plaintiffs, supported by researchers in cancer genetics, say that Myriad ran afoul of a new regulation promulgated by HHS this past January: that individuals have a right to receive “the full gene variant information generated by the test.”

The issue is that, although the new HHS policy allows individuals to request their full genetic information, Myriad only shares the pathogenic data, and actually resent the same results to the 4 individuals after the complaint.

What's strange about the whole thing is that a new policy about data transparency was released rather quietly, on the HHS blog. Any policy released via blog is rather strange, of course.