We have recently summarized efforts by two state legislatures to design regulatory schemes addressing issues raised by the proliferation of genetic information about individuals. New York’s effort addresses questions of insurance coverage for genetic testing. Massachusetts’ goes much further, calling itself a “Genetic Bill of Rights,”a title that accurately reflects its ambitions. In reviewing both of these proposals we have made the point that state-level legislation is no substitute for a coordinated and long-overdue federal-level approach.
But who will lead that coordinated federal effort? As we wrote recently, since the 2008 publication of a SACGHS report identifying major gaps in the regulation of genetic testing, that committee has been disbanded and no clear successor has emerged to champion these issues at the federal level. Last week, the National Human Genome Research Institute (NHGRI), which was originally created by the NIH to support the Human Genome Project, and is today tasked with advancing the understanding and application of human genomics, updated its long-term strategic plan for the first time since 2003 (pdf). Although a “critical part” of the NHGRI’s mission is the “study of the ethical, legal and social implications (ELSI) of genome research,” the Institute’s new roadmap barely touches upon ELSI issues, and dispenses with “legal and public policy issues” in a single sentence by noting the need for “collaborations.”
The NHGRI’s plan clearly fails to devote sufficient attention to the important role social, political, legal and regulatory factors will play in enabling the Institute’s vision of translating genomic medicine “from base pairs to bedside,” a failing for which it has been criticized. But it is unfair to lay the blame solely at the NHGRI’s feet. The NHGRI is, first and foremost, a scientific body (and its key grants frequently feature important ELSI components), not a regulatory one. And neither its parent, the NIH, nor other federal agencies nor Congress have thus far managed to take meaningful action to address the challenges posed by the 2008 SACGHS report, and by numerous similar private and public reports both before and since.
At a time when House leaders are calling for billions of dollars in cuts to federal agencies, including hundreds of millions from the FDA and more than a billion from the NIH, and then calling days later for deeper cuts still, it is difficult to imagine how the resources will be found to overhaul the legal, regulatory and social structures which support personalized, genomic medicine. After all, the call for billions of dollars which funded the Human Genome Project (HGP), and created the NHGRI, had real sex appeal. As then-President Clinton said, the HGP’s output was “the most important, most wondrous map ever produced by humankind.” But improving informed consent and genetic data privacy, developing more rational and efficient regulatory and reimbursement pathways for personalized medicine or clearing a genomic patent thicket? These are the types of seemingly mundane, tedious tasks that are unlikely to be even noticed by the vast majority of politicians or their constituents, let alone attract such flowery praise.
Yet these reforms are necessary, and they will not happen of their own accord. If the next decade is to be “our generation’s Sputnik moment,” as President Obama claimed in last month’s State of the Union Address, with investments in technology, including biomedical research, unleashing a “wave of innovation,” then we must also invest something in those tedious and detailed processes that make it all function in a complex society. The funding required will be nowhere near the billions of dollars it took to sequence the first human genome. Indeed, at least at the moment, funding may not be the main issue at all.
What is needed, now, is leadership. “Strong” leadership would be good, “creative” would be great, “visionary” would be even better. But at this point we need leadership period. Leadership tasked with examining the policy, legal and social challenges identified by the last decade of human genomics, and suggested by the coming one, and developing – and ultimately implementing – comprehensive reforms to meet those challenges at a national and international level. With SACGHS disbanded and the NHGRI focusing elsewhere, it is increasingly clear that a new source of leadership is needed. What remains unclear is what, or who, will fill this role.