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The National Human Genome Research Institute (NHGRI) organised a "bloggers-only" conference call last night with director Eric Green to discuss the Institute's new strategic plan (published in *Nature *last week). The call, which was also attended by Sandra Porter, and at least two other bloggers, was a promising sign of the Institute's willingness to engage with non-traditional media, and a useful opportunity to reflect on the Institute's plan.
Let me start by saying that this is a frustrating document to read. That's not because it's badly written; indeed, its creators should be commended for successfully distilling two years of consultation with a broad range of stakeholders into a thoroughly readable manuscript.
Rather, it's frustrating because it's not actually a strategic plan, at least not in any meaningful sense. The document is a near-comprehensive list of the issues that need to be resolved as we move from the current field of genomics to the long-awaited era of genomic medicine, but there is little discussion of precisely how they will be overcome, and who will be responsible for achieving them.
On the call, Green explicitly admitted that the document isn't really a strategic plan (despite being billed as such on the NHGRI website), but rather a "strategic vision". But even that is an unsatisfying description, because the second frustrating thing about this document is that any kind of central, bold, guiding vision is notably absent. Rather, the plan reads like a consensus document from a very large committee (which is in effect what it is), in which everyone's views have been carefully weighted and assigned a place; that makes it a useful reference compendium of challenges facing genomic medicine, but disappointing for anyone hoping to be inspired by a bold, cohesive, visionary plan for the second decade of human genomics.
Green also emphasised on the call that the document isn't meant to be a "strategic vision" for NHGRI; rather it's a "strategic vision" for the entire field of genomics, coordinated by NHGRI. That explains the vagueness when it comes to the crucial issue of implementation, but it doesn't take away the sense that an opportunity has been missed here. I appreciate the need for a consensus document laying out the challenges for genomics; but this could have been combined with a specific funding plan from the NHGRI - the largest funding body in genomics - for overcoming those challenges. In other words, an actual strategic plan.
In a guest post earlier today here at Genetic Future, the Genomics Law Report's Dan Vorhaus took the plan as a starting point for a thoughtful rumination on the urgent need for leadership in the overhaul of the legal, regulatory and social structures supporting genomic medicine; he argues that the plan displays little evidence for enthusiasm on the part of NHGRI to take on a leadership role in this area. I agree, but would go further: as research funding declines over the coming years, leadership and vision will be required for any of the goals described in the document to be achieved, and it is a shame that NHGRI wasn't able to use this document (or an accompanying article) to articulate its plan for taking on that role.
Finally, one aspect of the plan I found particularly disappointing was its discussion of the troubling issue of returning research data to participants. Based on discussions with other colleagues embarking on large-scale patient sequencing studies, this issue appears to be shaping up to be the topic of 2011 (for a snarky take on the topic, see Misha Angrist's entertaining recent guest post here). This is restricted to a single paragraph:
This is frustrating to me because the outcome here seem obvious: at some point in the very near future, return of data to genomics research participants will become an ethical necessity, at least in specific situations (such as the discovery of actionable, severe disease variants such as BRCA1 mutations), and I hope will ultimately provide benefits for researchers through more actively engagement of participants in the research endeavour. But returning research results is hard; it needs an ethical, scientific and logistical infrastructure that is beyond the capability of most research groups, and thus requires some kind of centralised system to be put together for both interpreting genetic data and establishing pipelines for ethical data return. The question of whether we need to consider returning individual research results is dead, as far as I'm concerned; the real question is whether we develop the complex infrastructure required in a hasty mess, driven by a participant's lawsuit over an undisclosed BRCA mutation; or whether we begin taking the required steps now to ensure that the final system is robust and ethically sound. I would have hoped for a much stronger stance in the strategic plan regarding the need for beginning this process quickly.
On the call I asked Green a (sadly poorly-phrased and rambling) question about whether NHGRI planned to take a leadership role in this area. To his credit, he managed to both correctly interpret my question and provide a reassuring answer: the NHGRI has the construction of a system for interpreting genetic data for clinicians and patients in an accessible fashion as a key goal (this is laid out in Box 2 of the plan, albeit worded as a broad need rather than an actual NHGRI goal), and this is something that could be applied to the return of incidental findings. Green went on to emphasise the need for more research into the degree to which research participants actually want incidental findings returned - of course I support this, although it's not a reason to delay investment in building robust systems for data return. I hope that NHGRI does indeed step up to the plate on this crucial issue, and soon.
So, in summary: this is an impressive, worthwhile and highly readable piece of work, but one that ultimately feels unfinished. As research dollars begin to get tighter, there is an urgent need for an actual strategic plan for building the resources and tools required to make genomic medicine a reality within a realistic budget. Let's hope that plan doesn't take another two years of consultation to put together.
