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NIH funds new grants exploring use of genome sequencing in patient care
Date:7/23/2013

and the scientific issues related to the medical applications of genomics. Researchers must also examine how best to discuss genome sequencing results and their potential implications with doctors, patients and caregivers," said Jean McEwen, J.D., Ph.D., program director for the Ethical, Legal and Social Implications program in the Division of Genomics and Society at NHGRI.

The new CSER program grants are awarded to the following groups:

  • Kaiser Foundation Research Institute, Portland, Ore., $8.1 million (pending available funds)

    Principal Investigators: Katrina Goddard, Ph.D., and Benjamin Wilfond, M.D., Seattle Children's Research Institute

    Drs. Goddard and Wilfond will lead a project that examines the use of whole-genome sequencing in informing couples, before they conceive a child, about their potential carrier status for genetic disease. They will compare women and their partners who receive preconception genetic testing to those who receive whole-genome sequencing in addition to the testing. Scientists will look for genetic mutations for about 100 rare conditions and expect to enroll 380 people in the trial. Couples with mutations that put children at risk for a condition will work with a genetic counselor and complete surveys to help researchers develop useful approaches to presenting information to patients.

  • Hudson-Alpha Institute for Biotechnology, Huntsville, Ala., $7.66 million (pending available funds)

    Principal Investigator: Richard Myers, Ph.D.

    Dr. Myers and his colleagues will sequence the genomes of nearly 500 children with developmental delays and other disabilities, along with their parents, in the hopes of discovering genomic alterations behind such disorders. As many as 1 to 3 percent of children worldwide are born with genetic disorders that lead to developmental or intellectual delays or disabilities. The researchers hope to uncover gene alterations that are common to more
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Contact: Steven Benowitz
steven.benowitz@nih.gov
301-451-8325
NIH/National Human Genome Research Institute
Source:Eurekalert

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