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Sequencing and Beyond NHGRI Blueprint Released; Vision for Future Seems Blurry


With the April 24 issue of Nature, genomic scientists got what NHGRI hoped would be a compelling vision of the future. In the much-vaunted paper, the institute issued a blueprint and goals for research going forward.

Based on nearly two years’ worth of talks with more than 600 scientists, NHGRI envisions three levels of work: genomes in biology, health, and society. For each of these, director Francis Collins says, six components will be critical: computational biology, education, training, technology development, resources, and ELSI work. Collins assures scientists that “we will be supporting the sequencing of lots of additional genomes,” but says the main thrust of the new plan lies in its 15 so-called grand challenges, representing “ambitious and audacious goals.”

The goals are indeed ambitious, but scientists’ chatter after Collins’ presentation in Washington, DC, indicated mixed reviews. A common complaint was the broadness of the challenges — nothing is as clear-cut as the old goal of sequencing the human genome. And with 15 new challenges floating around, some worry that there will be no clear focus for a relatively small community.

The challenges show quite a range: from “comprehensively identify the structural and functional components encoded in the human genome” to “understand evolutionary variation across species and the mechanisms underlying it” to “develop genome-based tools that improve the health of all” and “understand the consequences of uncovering the genome contributions to human traits and behaviors.”

— Meredith Salisbury

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