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NHGRI Funds Eight Centers under New Mendelian, Clinical Sequencing Programs


By Monica Heger

This article was originally published Dec. 6.

The National Human Genome Research Institute this week announced funding allocations for two newly created programs — the Mendelian Disorders Genome Centers program and a Clinical Sequencing Exploratory Researcher program.

The new programs are new additions to NHGRI's Genome Sequencing and Analysis Program, a four-year, $416 million program that also includes the Large Scale Genome Sequencing Centers program. NHGRI also announced funding awards for that program today (IS 12/6/2011).

NHGRI will fund three centers under the Mendelian Disorders Genome Centers program and five centers under the Clinical Sequencing Exploratory Research program. Each program has been allocated $40 million over the next four years.

Additionally, the National Heart Lung and Blood Institute and the National Cancer Institute will contribute $8 million over four years to the Mendelian diseases program and the clinical sequencing program, respectively.

NHGRI last summer announced its plan to develop the Mendelian disorder and clinical sequencing arms (IS 6/1/2010) and issued solicitations for the programs last December (IS 12/21/2010).

Mendelian Disorder Sequencing

For the Mendelian disorders program, NGHRI will provide $40 million over four years and the National Heart, Lung, and Blood Institute will provide $8 million over four years. Grants will be awarded to:

• Center for Mendelian Genomics, University of Washington, $5.2 million per year
Principal investigators: Deborah Nickerson, Michael Bamshad, Mark Rieder, Jay Shendure

• Center for Mendelian Disorders, Yale University, $2.8 million per year
Principal investigators: Richard Lifton, Murat Gunel, Shrikant Mane, Mark Gerstein

Baylor-Johns Hopkins Center for Mendelian Genetics, $4 million per year
Principal investigator: David Valle; Co-investigator: James Lupski

The three centers will also join the International Rare Disease Research Consortium, whose goal is to develop diagnostics for most rare diseases and treatments for around 200 disorders by 2020 (CSN 4/12/2011).

Lu Wang, program director of the large-scale genome sequencing program, will oversee the Mendelian disease project. Already, the centers that have received funding have more than 12,000 samples for several hundred disorders, Wang said today during a conference call with reporters.

Clinical Sequencing

NHGRI is investing $40 million over four years, with an additional $8 million from NCI, to support multidisciplinary projects that will study how healthcare professionals can use genomic sequence information in a clinical setting.

The five centers funded under the Clinical Sequencing Exploratory Research Projects are:

• Baylor College of Medicine, $1.8 million per year
Principal Investigators: Sharon Plon, Will Parsons

• Brigham and Women’s Hospital, $2.4 million per year
Principal Investigator: Robert Green

• Children’s Hospital of Philadelphia, $2.2 million per year
Principal Investigators: Ian Krantz, Nancy Spinner

• University of North Carolina, Chapel Hill, $1.6 million per year
Principal Investigator: James Evans

• University of Washington, $2.3 million per year
Principal Investigator: Gail Jarvik

Additionally, according to deputy director Mark Guyer, NHGRI may announce next week another group that it will fund under this program.

These projects will look at ways to integrate genomic data with electronic medical records, how to extract medically relevant information from a patient's genome sequence, and how sequence data will impact patient care. The projects will also address the ethical implications of clinical sequencing, including patient consent, genetic counseling, and return of results.

NHGRI director Eric Green said during the call that projects were chosen that focused on addressing the "barriers to clinical implementation of sequencing."

Brad Ozenberger, program director of the Cancer Genome Atlas and Jean McEwen, the director of NHGRI's Ethical, Legal, and Social Implications program, will oversee the clinical sequencing arm.

Addressing ethical elements is "absolutely essential for this program," said Ozenberger during the call.

He noted that whole-genome and whole-exome sequencing studies are providing a magnitude of data, not seen in genetic tests today, that raise a host of ethical questions, including what to do when variants not relevant to the patient's specific disease are uncovered and under what conditions to return those results, as well as how genetic variants of uncertain effects should impact a physician's treatment decisions.

Have topics you'd like to see covered by Clinical Sequencing News? Contact the editor at mheger [at]