Putting genomics into practice to combat common diseases

genomic data illustration
National Human Genome Research Institute
Now in stage IV, eMERGE has made a name for itself in mining health record data to better understand genetic risk of disease.

Genomics carries great expectations: the power to help health-care providers assess and assist their patients in managing their individualized risks for common, serious medical conditions, such as cancer and heart disease. However, how to effectively meld genetic risk assessments into health care is a complex question.

Several medical research institutions across the nation, including UW Medicine and its local partners, are joining forces, through a National Institutes of Health effort, to evaluate the use of genomic information in guiding clinical care for people from a variety of backgrounds.

“Substantial challenges must be addressed before genomic medicine is a part of standard medical care,” said Gail Jarvik, professor of medicine and head of the Division of Medical Genetics at the University of Washington School of Medicine. She will lead the participating clinical and research site in Seattle as the contact principal investigator.

On July 1, 2020, the National Institutes of Health announced a total of $75 million in funding over the next five years for what will be called the Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. Please see the NIH press release.

The network first will establish protocols and methodologies for improved genomic risk scoring for diverse populations, and then will integrate these assessments into clinical care. The eMERGE Network grant is through the National Human Genome Research Institute, a part of NIH. eMERGE has advanced through stages of implementing the promise of genomic sciences in health care. UW Medicine has participated in these stages. This will be stage IV.

Part of the national network, eMERGE IV Northwest will bring together clinicians, scientists and professionals in other fields from UW Medicine, UW Health Sciences, the Fred Hutchinson Cancer Research Center, and the Brotman Baty Institute for Precision Medicine. It will receive funding for total costs during five years of $7.1 million, beginning this July.

The eMERGE Network will be inclusive of participants across all ancestry groups, including multi-ancestries, and diverse ways of life.

eMERGE IV will aggregate, into a single score that informs about risk of a disease, a participant’s polygenic test information, which looks at variants from across the genome, as well as other known risk factors, such as personal and family medical history, environmental and social determinants, and physical and lab results. This score would let clinicians know which patients might benefit from appropriate screenings or other interventions.

The five medical conditions that eMERGE IV Northwest will concentrate on are: breast cancer, colon cancer, glaucoma, cardiovascular disease and osteoporosis (a type of bone loss that can precipitate debilitating fractures, such as a broken hip.)

“In some instances, these might be cases where clinical management might be improved by earlier diagnosis,” said David Crosslin, associate professor of biomedical informatics and medical education at the UW School of Medicine and one of the multi-principal investigators on the grant. For example, some people, because of their risk scores, might be given bone scans for osteoporosis, or colonoscopies or mammograms at a younger age than traditionally recommended. Those at greater risk for a disease might be candidates for preventive and diagnostic measures.

He said that biomedical informatics would be a part o

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