UW Medicine to coordinate clinical genomics research for diverse populations

National Institutes of Health program seeks greater inclusion in developing effective genomic medicine for all individuals

HSNewsBeat  |  Updated 5:00 PM, 08.08.2017

Posted in: Research

  • UW Medicine will be the coordinating center for a multi-site, NIH-funded effort to advance clinical genomics, with an emphasis on including diverse populations. NHGRI

Media contact:  Leila Gray,, 206.685.0381

The National Institutes of Health (NIH) today, Aug. 8, announced funding awards that will accelerate the use of clinical genomics for diverse populations and for groups who have been medically underserved. UW Medicine in Seattle is among the centers receiving funding.

The $18.9 million total in federal grants for the multi-site, national effort, planned to run for four years, will support research on genome sequencing in patient care. Genome sequencing helps figure out the “letters” in a person’s DNA code and is increasing used to understand disease and disease-risk.

Medical scientists are interested in the potential of DNA sequencing for improving the diagnosis and treatment of rare single-gene disorders, as well as for tailoring the care of common, complex conditions like cancer, heart disease, autism and dementia.  

An emphasis of the newly funded effort will be on ensuring that innovative approaches and best practices in clinical genomics can be applied to individuals and groups from a variety of backgrounds. The project also will look to extend genomic medicine in healthcare settings beyond research universities and teaching hospitals.  

UW Medicine medical genetics division head Dr. Gail Jarvik, professor of medicine and of genome sciences at the University of Washington School of Medicine, will lead the coordinating center for the national project.

“This program has a large focus on making sure the advances in genomic medicine reach diverse patient groups, not just those with access to academic medical centers,” Jarvik noted.  “The data generated from this program will inform the standard of care for genomic medicine for all patients.”

The coordinating center at UW Medicine will provide the organization and logistical support to stimulate synergies across the different program locations in the United States. The coordinating center will receive a four-year NIH federal award of $3,940,846 in total costs.

Jarvik brings to this role her experience directing the Northwest Institute for Genetic Medicine, which has been working to translate human genetic research into clinical medicine. In addition to being a medical scientist, she is also a UW Medicine physician who practices at University of Washington Medical Center.

The Clinical Sequencing Evidence-Generating Research 2, or CSER2, clinical sites who received fiscal year 2017 awards are in New York City, Houston, San Francisco, Portland, Ore., Alabama and North Carolina.

Their research will build upon the Clinical Sequencing Exploratory Research, or CSER, Consortium, started in 2010 and funded by the National Human Genome Research Institute and the National Cancer Institute, both part of NIH.

Jarvik was the principal investigator on a site grant in the last round of funding for CSER. The study was called NEXT Medicine, an acronym for New EXome Technology in Medicine.  It was conducted from December 2011 to November 2017. The exome is the portion of the genome that contains the code for producing proteins.  It can be sequenced less expensively than the entire genome, while still providing important information on certain genetic traits and disorders.

The project was a randomized controlled trial of whole exome sequencing in patients with colorectal cancer or polyposis for whom a genetic test was ordered in the course of usual clinical care. The researchers produced 59 publications on their findings.

The new grants will help develop methods to bring genome sequencing further into the practice of medicine, to foster the discovery and interpretation of genomic variants (alterations or alternatives in the DNA code), and to investigate the effects of genome sequencing on healthcare outcomes.

“CSER’s initial goal was more exploratory in nature to see if we could, in fact, integrate genome sequencing into clinical care,” said Dr. Lucia Hindorff, a program director in the National Human Genome Research Institute’s  Division of Genomic Medicine.

“The exploratory focus allowed each site to develop its own approach,” Hindorff explained. “Working together, CSER investigators were effective in identifying common challenges and opportunities for advancing this integration.”

With this new round of funding, the National Human Genome Research Institute and the National Cancer Institute have partnered with the National Institute on Minority Health and Health Disparities.  They will collaborate to improve recruiting and retaining patient research participants from diverse racial and ethnic groups, as well as from previously understudied clinical healthcare settings where genomic medicine could potentially be put into practice.

“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 Dr. Regina Smith James, director of Clinical and Health Services Research at National Institute on Minority Health and Health Disparities,.

CSER2 will also continue to include collaborators, such as those from the ClinSeq Study, which uses large-scale human sequencing data to look at the role of genes in health and disease, as well as issues related to implementing genomic technology in patient care.

 According to the National Institutes of Health announcement, the clinical sites in CSER2 all have the goal of recruiting at least 60 percent of participants from diverse or underserved populations. The announcement added that the research sites cover geographical areas from the racially diverse Houston vicinity, to under-represented minority populations in Harlem and the Bronx in New York City.

Each project site will also address such commonalities as the effectiveness of treatment decisions; patient and family responses to genomic testing; patient-provider-laboratory interactions that influence the use of genome sequencing; and integrating genomic, clinical and healthcare data to build a shared evidence base for clinical decision making.

Other recipients of the new CSER2 awards are:

            • Jonathan Berg, University of North Carolina, Chapel Hill

            • Gregory Cooper, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama

            • Katrina Goddard, Kaiser Permanente Center for Health Research, Portland, Oregon

            • Eimear Kenny, Icahn School of Medicine at Mount Sinai, New York

            • Pui-Yan Kwok, University of California, San Francisco

            • Sharon Plon, Baylor College of Medicine, Houston

Please see 2016 item on Nature commentary, "Human genomics research lacks diversity."

Tagged with: genome sequencing, clinical genomics, medical genetics, health disparities, medically underserved, translational research
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