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NHGRI Renews Large-Scale Sequencing Program with $90M per Year; Allots New Funds for Mendelian Disorders, Clinical Sequencing

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By Bernadette Toner

Making good on a promise made earlier this year to diversify its funding for sequencing activities, the National Human Genome Research Institute this week said that it plans to renew its large-scale sequencing program for another four years, and has also set aside funds to support the study of Mendelian disorders and the application of genomic sequence data to patient care.

In a solicitation issued this week, NHGRI said that it has budgeted $90 million per year to extend its Genome Sequencing and Analysis Centers program, which will support up to three centers per year over the next four years.

In a second solicitation, NHGRI said it intends to commit $10 million per year to support two Mendelian Disorders Genome Centers, which will "use genome-wide sequencing and other genomic approaches to discover the genetic variants underlying Mendelian disorders and other health-related Mendelian phenotypes in human." A third solicitation describes the Clinical Sequencing Exploratory Research program, which will award $5.5 million per year to between three and six research groups seeking to address "critical questions about the application of genomic sequencing to clinical care of individual patients, from generation of genomic sequence data, to interpretation and translation of the data for the physician, to communication to the patient, including an examination of the ethical and psychosocial implications of bringing broad genomic data into the clinic."

NHGRI also issued two solicitations for new programs related to informatics support for high-throughput sequencing technology. Both programs are called "Informatics Tools for High-Throughput Sequence Data Analysis" and are intended to support "the further development of existing computational software tools for use with contemporary DNA sequencing technology in order to make those tools sufficiently robust, reliable, well-documented, and well-supported that they can be readily adopted by any biological or biomedical research laboratory."

The first, targeted to academic researchers, will provide $4 million per year for up to ten groups, and the second, targeted to commercial firms and administered under the Small Business Innovation Research mechanism, will award $2 million per year for up to five awards.

In all, the expansion of NHGRI's large-scale sequencing program will award approximately $111.5 million per year over the next four years.

The Genome Sequencing and Analysis Centers program was previously funded with around $110 million per year and supported the Broad Sequencing Platform at the Broad Institute; the Human Genome Sequencing Center at Baylor College of Medicine; and the Genome Center at Washington University School of Medicine.

Recognizing that rapid advances in sequencing technology have enabled many research groups beyond the large genome centers to gain access to sequencing capacity, NHGRI convened a workshop in 2009 that ultimately led to a set of recommendations that NHGRI's National Advisory Council of Human Genome Research released in May of this year.

In the recommendations, the advisory council proposed to continue funding the large-scale sequencing program at a reduced overall level, and to add three new initiatives: a mid-sized Center for Mendelian Disorders; exploratory clinical sequencing projects; and the development of robust genomic sequencing analysis tools (IS 6/1/2010) — a structure reflected in the solicitations issued this week.

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