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NHGRI Plans to Fund More Clinical Sequencing Projects

By Matt Jones

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute plans to fund more new research projects that explore how to best use genome sequencing in clinical care, as well as the ethical, legal, and social implications of using that genomic information in the clinic.

After receiving a strong response from the research community to its Clinical Sequencing Exploratory Research program, which funded several new projects late last year, the institute plans to renew the funding call sometime late this spring, NHGRI Program Director Brad Ozenberger told GenomeWeb Daily News on Thursday.

"We had a really strong response to [the first] RFA," he said. "There's a real interest in this area in the community, so we decided to reissue the RFA and expand this consortium. We expected that there would be a good response, but it exceeded our expectations. There is just a lot of activity right now with next-gen sequencing and trying to move some of those technologies into medical care, so this RFA really hit a hot button."

The CSER program was designed to support multi-disciplinary studies involving clinicians, bioinformaticians, and ethicists to explore through specific projects the challenges, opportunities, and ethical questions related to using genome sequence data in clinical care. The research should address critical questions about how to apply genomic sequencing to clinical care in individual cases, "from generation of genomic sequence data, to interpretation and translation of the data for the physician," NHGRI said in a notice about its plans to fund more CSER awards.

Each of these projects are to include three components: a clinical genomics study; a sequencing, analysis, and interpretation of sequence data project; and a study of some of the ethical, legal, economic, and psychosocial implications of using genomic information to diagnose and treat real patients. NHGRI sees these projects as more than studies of specific diseases and their care, but foremost as efforts to evaluate how sequencing can be used in medical practice more broadly.

"The point of the program is not to solve those diseases or discover new disease association alleles, but it is really about the process. So the breadth of approaches in disease areas is going to help us in that area," Ozenberger explained.

Last December, NHGRI granted $40 million to fund the first five CSER projects. These included a project to use and evaluate whole-exome sequencing as a diagnostic tool in searching for genetic errors that may be linked to patients' eating disorders, a study that will use genome and exome sequence data alongside ELSI surveys to study commonalities between colon cancer patients, and an effort to use sequencing and analysis with genetic counseling to study patients with disorders that cannot be easily diagnosed, among others.

These awards primarily went to research universities and institutes with a history of conducting basic genomics research, such as Baylor College of Medicine and the University of Washington, but also went to the large clinical research centers of Brigham and Women's Hospital and Children's Hospital of Philadelphia.

"NHGRI historically has been much more focused on basic research, but with our new strategic direction of moving into genomic medicine, we did have a lot of applicants who are not the typical people we work with at NHGRI," Ozenberger said.

He also said that although several of the first CSER grants focused on studies involving cancer, researchers using other disease models are encouraged to apply.

"We would like to see a little greater breadth in disease topics … such as pediatric developmental delay disorders, more emphasis on pharmacogenomics, and some areas where we recognize that there is some information to be gained by sequencing that could be applied to patient care that we didn't get to fund."

While the range of diseases and disorders may be broad, the structure of the next round of studies will be similar to those already underway, Ozenberger said.

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