Distributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering them

Misha Angrist ^a^,^,,
Robert Cook-Deegan ^b^,^,

DOI: 10.1016/j.atg.2014.09.005

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“The future is already here — it's just not very evenly distributed.”

— William Gibson

1. So sue me

Myriad Genetics, founded in 1991 as a spin-off from the cancer genetics epidemiology unit at the University of Utah and initially funded in part by public money, went on to build a multi-billion-dollar business by discovering and patenting two genes that, when mutated, predispose to hereditary breast and ovarian cancer (HBOC) (Williams-Jones, 2002 and Allison, 2014). While Myriad's reputation as a competent test provider was generally exemplary and there was no apparent price premium attributable to the patents, the company's monopoly on the two genes kept patients from obtaining second opinions or confirmatory testing. Moreover, researchers were prevented from returning results on the two genes to research participants (Carbone et al., 2010 and Cook-Deegan et al., 2010). In 2009 the American Civil Liberties Union sponsored litigation against Myriad on behalf of twenty plaintiffs (including HBOC patients), seeking to overturn Myriad's US service monopoly on genetic testing for HBOC. In 2013 the United States Supreme Court ruled that genomic DNA was a product of nature and therefore not patentable (Association for Molecular Pathology et al., 2013), while engineered DNA molecules were eligible to patent. Almost immediately, a spate of other genetic testing firms announced that they would begin testing for the two genes, BRCA1 and BRCA2, that were once the exclusive province of Myriad ( Karow, 2013).

But, as Conley et al. describe in their review of the HBOC genetic testing landscape post-Myriad, whatever the legal precedent the Supreme Court established, in the immediate aftermath of the decision the HBOC marketplace only became messier and more confusing (Conley et al., 2014). In the first of its two commercial strategies for HBOC testing post-SCOTUS, Myriad filed suit against most of its new would-be competitors, some of whom countersued while Gene by Gene acquiesced and settled out of court in February 2014 (Allison, 2014, Conley et al., 2014 and Sherkow and Scott, 2014). Others have tried to be proactive before launching their own HBOC tests, seeking declaratory court judgments that would allow them to enter the market without fear of litigation (Conley et al., 2014). In all, thus far eight firms have been sued by Myriad, one settled, and several have countersued; the ongoing cases have been consolidated in the US Federal District Court for Utah, Judge Robert Shelby presiding. In all likelihood, the legal wrangling will outlive the first and broadest of Myriad's surviving patent claims on BRCA1 and BRCA2, which begin to expire in 2015.

Litigation and uncertainty ensure a contentious and turbulent HBOC genetic testing market in the near term. But while Myriad's patent estate may be vulnerable, the company retains a two-decade head start on its competition and a war chest in excess of $250 million (Gleason et al., 2014b). That is why, at least in part, it seems to us that it is not litigation but rather Myriad's other major post-SCOTUS commercial strategy – to keep its data as a trade secret in the name of “accuracy” (Tucker, 2014) – that is more important and could set a worrisome precedent for the future of precision medicine, which relies on transparency as to how the work was done and broad access to data in order to replicate initial findings and draw robust conclusions about the use of genomics in clinical care (Angrist and Jamal, 2014).