By Jessica Kent, Health IT Analytics | September 25, 2019

– The National Human Genome Research Institute (NHGRI), part of NIH, will donate grants totaling $29.5 million that will help advance DNA sequencing technology and precision medicine.

The grants will span a five-year period pending the availability of funds and will allow scientists to generate and maintain the most comprehensive reference sequence of the human genome. The currently available reference sequence of the human genome is becoming obsolete, and the grants will fund two centers as part of a new Human Genome Reference Program (HGRP).

Nearly all biomedical research studies that use or analyze human genomic data rely on the established reference sequence of the human genome. By advancing the quality of the available reference sequence of the human genome, the HGRP will help scientists identify disease-causing variants and specify their genomic locations with more accuracy.

The funds will also allow scientists to report results in a way that other scientists can use in their analyses of genome sequence data.

“It has grown more and more important to have a high-quality, highly usable human genome reference sequence that represents the diversity of human populations,” said Adam Felsenfeld, PhD, NHGRI program director in the Division of Genome Sciences.

“The proposed improvements will serve the growing basic and clinical genomics research communities by helping them interpret both research and patient genome sequences.”

The two centers will work with international collaborators and develop a multi-genome reference sequence that is as complete as possible. The more complete reference sequence will represent 350 genomes from the human population, known as a pan-genome. As time goes on, researchers expect that the pan-genome will represent the diversity of the human population, enabling analyses of any human DNA sequence.

NHGRI has awarded $2.5 million per year for five years to Washington University in St. Louis (WashU), the University of California, Santa Cruz (UCSC), and the European Bioinformatics Institute (EBI), and will coordinate with the National Center for Biotechnology Information to form the WashU-UCSC-EBI Human Genome Reference Center.

The center will provide a next-generation reference sequence of the human genome as a resource for the scientific community and support interactions within the genomics community.

The second component of the grants, the Human Reference Genome Sequencing Center, will aim to sequence up to 350 additional diverse human genomes using innovative technologies to incorporate high-quality sequences that are more broadly representative. NHGRI will support the center with approximately $3.5 million per year over five years.

The grants will add to NIH’s history of supporting genomic and precision medicine research. In 2017, the organization gave researchers at the University of California San Francisco (UCSF) a four-year, $11.7 million grant to pursue prenatal and pediatric precision medicine breakthroughs. The Program in Prenatal and Pediatric Genomic Sequencing aims to make sure that personalized medicine is accessible to traditionally underserved patients.

“Engaging patient populations that are traditionally underrepresented in genomics research, coupled with the inclusion of broader types of healthcare settings, will enrich the data that result from CSER2,” said Regina Smith James, MD, director of Clinical and Health Services Research at NIMHD.

With the new grants, NHGRI will further advance precision medicine and genomics research to improve patient care.