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Translational Genomics Take Center Stage at ACMG Meeting

By Andrea Anderson

VANCOUVER, BRITISH COLUMBIA (GenomeWeb News) – At a plenary session at the American College of Medical Genetics annual clinical genetics meeting here yesterday, Boston University researcher Robert Green drew parallels between the use of genomics in the clinic and the evolution of automobiles.

"Sooner than we are ready," he said during his talk on translational genomics and health outcomes, genomic data is going to be "mass produced" and readily available to clinicians. To prepare for this onslaught of information, Green called for a "set of components studies" that can be pieced together to yield medical care informed by multiplexed genomics.

For instance, he noted, studies are needed to address everything from strategies for communicating genetic risk to the non-medical implications of genomic information, including the effects that this information may have on an individual's behavior and personal relationships.

Some of these studies are already underway, Green explained, pointing to projects that he and his colleagues have undertaken through the Risk Evaluation and Education for Alzheimer's Disease (REVEAL) consortium and to studies by other groups.

One of the REVEAL studies, which looked at anxiety, distress, and behavior in individuals who have learned their APOE status, was published in the New England Journal of Medicine in 2009.

Related studies are also assessing the consequences of learning genetic risk information without prior genetic counseling, Green noted, and comparing how individuals respond to genetic risk information that they receive in person or over the phone.

Yet another REVEAL study is investigating how individuals react to incidental findings or surprise risk information learned through genetic studies, specifically with respect to cardiovascular risk information associated with the same APOE alleles used to gauge Alzheimer's risk.

Green also highlighted an upcoming study by the IPeG consortium, in collaboration with Pathway Genomics and 23andMe, in which individuals will be surveyed both before and after taking direct-to-consumer genetic tests in an effort to understand what they expect to learn from these tests and more. Researchers will also have access to genetic test results for study participants who authorize it, Green said.

Because DTC testing is already available, he explained, "This is going to be a very natural experiment."

Finally, Green pointed to a need for both disease-specific translational genomic studies and general genomic medicine studies that are more broadly focused, including research related to penetrant variants, recessive carrier status testing, pharmacogenomics, and more.

And, he argued, such studies should explore not only the clinical validity and utility of genetic and genomic testing, but also the personal utility that these tests may have for individuals who are interested in learning more about their genetics even when this information is not clinically actionable.

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