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Peer-Reviewed Publication
J Genet Couns2022;31(2):326-337.April 1, 2022Journal Article

Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.

Jennefer N Kohler1,2, Emily Glanton3,4, Brenna M Boyd5, Catherine H Sillari6, Shruti Marwaha1,7, , Matthew T Wheeler1,7
1Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
2Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.
3Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
4Color Genomics, Burlingame, CA, USA.
5Department of Medical Genetics, University of Washington, Seattle, WA, USA.
6NIH Undiagnosed Diseases Program, Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
7Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.
PubMed PMC DOI PDF

Abstract

Genetic counselors (GCs) are increasingly filling important positions on research study teams, but there is limited literature describing the roles of GCs in these settings. GCs on the Undiagnosed Diseases Network (UDN) study team serve in a variety of roles across the research network and provide an opportunity to better understand genetic counselor roles in research. To quantitatively characteri…

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