January 2012

NHGRI expands sequencing program

The National Human Genome Research Institute is taking a closer look at medical applications in a new four-year, $416 million funding plan. The plan kicks off this year with new efforts by the NHGRI’s flagship Genome Sequencing Program to find causes of rare inherited diseases and to more broadly incorporate the use of genome sequence information into clinical care.

The largest share of the program, initially at $86 million a year, will go to the genome sequencing centers at the Broad Institute, Washington University and Baylor College of Medicine. The funding will support ongoing basic research that delves into aspects of how the human genome functions and the genetic contributions to common complex illnesses, such as diabetes and heart disease. The NHGRI aims gradually to reduce the base funding for the centers over the next several years as the cost of sequencing drops and will redirect the money to different research directions.

To find the causes of rare genetic disorders by using recent advances in genome sequencing, the NHGRI will partner with the National Heart, Lung and Blood Institute to invest $48 million over four years. Currently, more than 6,000 rare diseases are known to exist, of which fewer than half have had their genetic causes elucidated; of these diseases, only one-tenth have treatments. The funding will go to research centers at the University of Washington, Yale University and the Baylor-Johns Hopkins Center for Mendelian Genetics.

The NHGRI also will allocate $40 million over four years to support five Clinical Sequencing Exploratory Research Projects. For these projects, multidisciplinary teams will find ways in which health-care professionals may use genome sequencing information to help treat patients. Research will look into how to incorporate genomic data into medical records, get relevant information from a patient’s genome sequence and use the information to recommend treatment.

The final component of the new plan is the development of robust computer software programs that can be used by investigators outside of large sequencing centers to analyze genome data. DNA sequencing technology has fallen in cost to the point where small laboratories can have their own instruments. But data analysis continues to be a major hurdle. The NHGRI will invest almost $20 million over four years to further develop existing software to make it more generally accessible and easier for researchers to use. The institute will use various funding mechanisms, including cooperative agreements and Small Business Innovation Research grants, which will be given out soon.

Raj_MukhopadhyayRajendrani Mukhopadhyay (rmukhopadhyay@asbmb.org) is the senior science writer for ASBMB Today and the technical editor for JBC.

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