Genetics & Genomics

December 16, 2021

Two VUMC papers named among genomic medicine’s top 10

Vanderbilt researchers wrote two of the “top 10” papers representing key advances in genomic medicine published between September 2020 and August 2021.

Two of the “top 10” papers representing key advances in genomic medicine published between September 2020 and August 2021 were written by researchers at Vanderbilt University Medical Center.

The papers, cited in this month’s issue of The American Journal of Human Genetics, were selected by the Genomic Medicine Working Group of the National Human Genome Research Institute, part of the National Institutes of Health, for their significance in advancing the application of genomic information to clinical care.

One of the papers, published in June 2021 in JAMA Internal Medicine, described how a gene variant that lowers white blood cell counts and which is common in those with African ancestry contributes to unnecessary bone marrow biopsies.

The report by Jonathan Mosley, MD, PhD, Sara Van Driest, MD, PhD, Scott Borinstein, MD, PhD, and colleagues from VUMC and two other institutions exemplified how genetic data can be used to reduce a health disparity.

Mosley is assistant professor of Medicine in the Division of Clinical Pharmacology, Van Driest is associate professor of Medicine and Pediatrics, and Borinstein is the Scott and Tracie Hamilton Professor of Cancer Survivorship and associate professor of Pediatrics.

The second paper, also published in June in Nature Medicine, reported how patients with rare, undiagnosed disorders who could benefit from genetic testing can be identified through the detection of “phenotypic patterns” in the electronic health record (EHR).

Douglas Ruderfer, PhD, associate professor of Medicine in the Division of Genetic Medicine, data scientist Theodore Morley, MS, staff scientist Lide Han, PhD, and colleagues concluded that the predictive model they developed to plumb the EHR has the potential to speed up diagnosis, improve care and reduce costs.

A third paper led by researchers at the University of Washington included four VUMC coauthors: John Graves, PhD, associate professor of Health Policy; Josh Peterson, MD, MPH, professor of Biomedical Informatics; Shawn Garbett, MS, assistant in Biostatistics; and Zilu Zhou, MPH, Health Policy analyst.

That paper, entitled “Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States,” was published in October 2020 in JAMA Network Open.

VUMC co-authors of the paper on bone marrow biopsies were Lisa Bastarache, MS, Jonathan Schildcrout, PhD, Christian Shaffer, Mingjian Shi, MD, PhD, C. Michael Stein, MD, Dan Roden, MD, and Nancy Cox, PhD.

Bastarache, research associate professor of Biomedical Informatics, and Cox, the Mary Phillips Edmonds Gray Professor of Genetics and director of the Vanderbilt Genetics Institute, also coauthored the paper on identifying phenotypic patterns in electronic health records.