Putting genomics into practice to combat common diseases
A national partnership, funded by the NIH, will evaluate the use of genomic information in the health care of diverse participants
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 of several aspects of eMERGE IV. These include clinical decision support within the electronic medical record. It also can include natural language analysis of physician notes to capture patient information not found in other parts of the chart, such as health behaviors and beliefs, that might also be predictive of disease susceptibility.
“Medical informatics is a very hot area now. The ability to mine electronic medical record data for additional variables that could affect health is super critical,” Crosslin said.
Jarvik and Crosslin also pointed out that, in addition to experts specializing in each of the medical conditions that are the focus of the Northwest site, leaders in health economics and in the ethical and societal aspects of genomics and health care will also be part of the research team. Medical, as well as economic, outcomes will be measured. Stakeholder engagement will be encouraged to obtain comments from participants and their families.
Each of the eMERGE IV sites across the country will benefit from the collective insights of the national network.
“We will have a sort of ‘bake off’ to pick which of the risk scores will be implemented across the network,” said Jarvik, “and we will share information on what is helpful and what is not.” The latest effort will build on previous eMERGE studies, which included UW, of patients’ combined genomic and clinical data over the past dozen years or more.
“eMERGE made a name for itself in using health records to understand the implications of certain genetic findings,” she said.
In that time, the researchers said, medical genetics has gotten better at predicting the chances of common disorders, and of returning that information to patients to stratify risks. Discovery, they say, is evolving from identifying gene variations that might put people at increased odds of having certain diseases, to incorporating that information earlier on into patient care decisions.
Commenting on this next stage, Jarvik said, “This is a truly cutting edge project that involves 14 UW faculty and 2 Fred Hutch investigators, as part of a national consortium, to develop and deliver genomic risk scores for common disease to UW Medicine patients.”
In addition to Jarvik and Crosslin, among the other researchers for eMERGE IV Northwest are: S. Malia Fullerton, Bioethics and Humanities, David Veenstra and Beth Devine from the UW School of Pharmacy, Sean Mooney and Meliha Yetisgen from Bioinformatics and Medical Education, Sarah Knerr from Health Services in the UW School of Public Health, and Ulrike Peters and Li Hsu, from Fred Hutch.
Physicians from the UW School of Medicine and the UW Medical Center serving as medical consultants include:
- Janie Lee, Section Head of Breast Imaging, Department of Radiology (breast cancer)
- David Dichek, Associate Chair for Research, Department of Medicine, Division of Cardiology (cardiovascular disease)
- William Grady, Department of Medicine, Division of Gastroenterology (colon cancer)
- Paul Crane, Department of Medicine, Division of General Medicine (adult primary care)
- Radhika Narla, Department of Medicine, Division of Metabolism, Endocrinology, and Nutrition (osteoporosis)
- Raghu Mudumbai, Department of Ophthalmology (glaucoma)