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.
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.
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.