To accelerate the use of genomic data in patient care, the National Human Genome Research Institute (NHGRI) will invest $40 million over 4 years in multidisciplinary research projects at 5 institutions. Two of the institutions—Baylor College of Medicine in Houston and the University of Washington in Seattle—will focus on how to introduce sequencing into cancer genetics clinics, while the others will examine its role in various noncancerous conditions.

“At NHGRI, we foresee genome sequencing becoming a routine part of medical care,” says Bradley Ozenberger, PhD, program director for Genomic Medicine. “These projects are exploring the best ways to widen the use of genomic medicine in an effective, responsible, respectful way.”

In one of the cancer studies, 280 children diagnosed with brain and other solid tumors at Texas Children's Cancer Center will have exome sequencing of tumor and blood samples performed while they receive standard treatment for their cancer, says Baylor's Will Parsons, MD, PhD, a pediatric oncologist and co-principal investigator of the project. The exome sequencing results will then be reported to the treating oncologists, who will share them with the patients' families. The clinical relevance of the results will be analyzed, including the implications for treatment in case of cancer recurrence and the potential impact of the germline data on recommendations for family members.

In the other cancer study, Gail Jarvik, MD, PhD, head of the Division of Medical Genetics at the University of Washington School of Medicine, plans to enroll 220 patients undergoing treatment for colorectal cancer that may have been caused by a genetic change. All of the patients will receive standard care, but 110 of them will also have exome sequencing completed. Exome findings, including those from noncancer genes, could lead to changes in treatment, such as an adjustment in medication dose. The 2 groups will then be compared to see whether exome sequencing data ultimately identifies the genetic change underlying the cancer more often or more quickly, how it impacts patients' quality of life, and how it affects decisions about clinical care.

If exome sequencing fails to pinpoint the cause of a patient's cancer, says Jarvik, exome sequencing could be done on family members to help identify new colorectal cancer genes.

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