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Experts Weigh In on Personal Genomics at Common Diseases Meeting

CAMBRIDGE, MA (GenomeWeb News) – The potential pitfalls and promise of personal genomics were front and center at the Genomics of Common Diseases meeting yesterday afternoon, as a panel of experts discussed everything from the social and medical implications of personal genetic information to how to interpret and apply risk information from genetic variants.
The latest in a string of discussions about personal genomics in the research community and beyond, the panel included Harvard University geneticist George Church; David Valle, director of Johns Hopkins University’s Center for Inherited Disease Research; and Sharon Terry, president and CEO of the Genetic Alliance.
Teri Manolio, director of the National Human Genome Research Institute’s Office of Population Genomics, moderated the discussion between panel members and meeting attendees.
As sequencing costs have declined and new technologies have sprung up, genetic and genomic data have flourished, raising the possibility that information from individual genomes could be applied clinically and, in some cases, recreationally. But so far, Manolio said, the pace of genetic and genomic discovery has outstripped the clinical application of this information.
In addition, there are lingering concerns about issues such as privacy and discrimination — including social discrimination — that may not be easy to address. For instance, a recent study suggesting that pooled data does not mask individual identity prompted the National Institutes of Health to shield some of its databases from public view.
Nevertheless, personal genomics is generating a great deal of interest. And, Terry argued, as our society shifts from an industrial to an information age, the way the public views — and consumes — genetic information will continue changing. Indeed, Church noted, the public already has access to a range of products that give them a lot or a little information about their genome.
That raises all sorts of questions about how personal genomics should be used and how much guidance the public should get from gatekeepers. “As we as consumers start to look at this, we’re going to need a different paradigm than we had in the past,” Terry said.
Even within the genomics community, debate remains about how genetic and genomic data should be applied. For instance, the panel discussed issues related to the interpretation of genetic data, its clinical applicability for complex diseases, and whether risk information can or should be applied in the absence of knowledge about the biologic mechanisms behind given risk variants.
Some have argued that genetic variation can provide risk information to stratify patients into low-, medium-, and high-risk groups for certain complex diseases. That could give individuals a more precise knowledge of their risk for specific diseases, allowing them to undergo additional screening to prevent disease or receive more individualized treatment for existing diseases.
On the other hand, because genetic variants identified so far generally confer a relatively small increase or decrease in disease risk, it’s not always clear how this information should be presented to patients and how much genetic knowledge is truly actionable.
But, proponents say, personal genomics will only advance if people start applying and using the early-stage information from this burgeoning field.
For example, Church noted that the Personal Genome Project, of which he is the founder and principal investigator, is recruiting those willing to make their genomic and other information available to researchers and the general public. According to its web site, the project is intended to stimulate a “critical mass of interested users, tools for obtaining and interpreting genome information, and supportive policy, research, and service communities.”
So far ten individuals, including Church, have enrolled. In time, organizers hope to enroll 100,000 participants.
And while researchers tend to obsess about the medically actionable information contained in our genomes, Church said there are plenty of other applications that are also important to the public — from ancestry and forensics to scientific education and curiosity. “I think a lot of people want to become amateur scientists,” Church said. “I think that should be encouraged.”

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