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Outgoing Collins, Panel Discuss GINA and Medical Actionability

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At a panel session in New York City's first World Science Festival, a sold-out crowd listened to experts discuss the results of bringing genomics to the masses in a conversation ranging from the Genetic Information Nondiscrimination Act to medical actionability.

The event also served to highlight the career path of Francis Collins, whose time as director of the National Human Genome Research Institute began with overseeing the Human Genome Project and ended with US President Bush signing into law the GINA bill that Collins championed. At the end of May, Collins announced that he would be stepping down from his NHGRI post effective August 1; the institute's Alan Guttmacher will serve as interim director until a replacement is chosen.

During the panel discussion, Collins said that since the Human Genome Project was declared complete in 2003, the field has evolved to look for genetic risk of diseases through SNPs and CNVs. But panelist James Evans, director of the University of North Carolina at Chapel Hill's human genetics program, said much of the information from personal genome scans won't actually be useful. "Medicine is a very tractable endeavor," Evans said. "We want results that can tell us what we can do to make it better. I think that for the individual, much of this type of risk confers, say, a doubling of one's risk — [that's] not actionable and probably never will be."

Collins was more optimistic. "We've only just begun to scratch the surface," he said. "What you see currently is a modest change in risk, but they are going to be a lot less modest." He added that actionability is in the eye of the beholder: even in cases where medical interventions don't exist, there may be personal steps patients could take, such as arranging their finances.

Though the panelists debated the merits of knowing one's SNP information, they all agreed that the recent signing of GINA was laudable. Collins, who has been a vocal proponent of the bill for years, was particularly pleased.

"GINA was past due," said Evans, adding that even more should be done to protect people from other insurers, such as life insurance companies, which are not currently covered by the law. Evans also said that since everyone has genomic errors that could blossom into health problems, it's now time to change the US medical system.

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