Abstract
The NIH has launched a 2-year program to provide exome sequencing and analysis for NIH investigators. Successful applicants will receive, at no cost, sequencing for 50 to 300 exomes at the NIH Intramural Sequencing Center. The program will sequence and analyze 1,000 exomes in total.
To increase the application of genomic data in clinical research at the NIH, the agency has launched a program to provide the sequencing and analysis of 1,000 exomes over the next 2 years.
The Clinical Center Genomics Opportunity (CCGO) initiative will begin reviewing applications this summer from intramural investigators at any NIH research facility who are not currently involved in clinical genomics projects. Each successful applicant will receive, at no cost, exome sequencing data from the NIH Intramural Sequencing Center in Rockville, MD, for 50 to 300 patients.
Some NIH researchers already employ genomic approaches in their research, but the CCGO will provide opportunities to investigators without a research budget large enough to cover sequencing. The cost of sequencing, which typically runs to about $1,000 per exome, will be shared by the NIH Director's Challenge Innovation Award Program and the NIH National Human Genome Research Institute.
Although only NIH investigators can qualify for the CCGO program, researchers from other institutions will be able to access genomic data and analyses generated by the projects.
Clinicians presently collect large amounts of clinical data on patients treated at the NIH Clinical Center in Bethesda, MD. By connecting genomic findings from whole-exome sequencing to that phenotypic data, NIH researchers may bolster their understanding of the molecular underpinnings of patients' diseases, says Michael M. Gottesman, MD, the NIH's deputy director for intramural research.
The CCGO will give priority to projects that analyze blood samples for germline mutations, says Leslie Biesecker, MD, chief of the Medical Genomics and Metabolic Genetics Branch in the NIH National Human Genome Research Institute. As a result, CCGO-funded projects related to cancer research are likely to focus on inherited cancers, the most common types of which include breast, ovarian, and colorectal cancers.
Exome analysis can help clinical researchers better understand how the tangle of genetic variations influences a person's risk of disease, prognosis, and response to treatment. “Within any genome, you'll find changes—some of which could be predictive of disease,” says Gottesman.
Although no projects have been approved yet, Gottesman thinks the initiative will appeal to cancer researchers with novel ideas about how to use genomic information to help patients. For example, “some patients who have a particular mutation develop cancer, and some don't,” he notes. Whole-exome sequencing may help investigators figure out why.
In addition, exome sequencing has the potential to help researchers identify mutations that may contribute to the toxic side effects of certain drugs, or identify variants linked to rare diseases, like inflammatory breast cancer.
Gottesman says the CCGO is a first step toward building the infrastructure needed to apply genomic techniques in the NIH clinical setting. “I think this program is just the beginning.”