Gail Jarvik MD, PhD is the Arno G. Motulsky Endowed Chair in Medicine, Joint Professor of Medicine and Genome Sciences, and Head of the Division of Medical Genetics (only the third since the founding of the division in 1957), an Adjunct Professor of Epidemiology at the UW Medical Center (UWMC) and an Affiliate Member of the Fred Hutchinson Cancer Research Center. She is a Pew Scholar in the Biomedical Sciences, and has been made a Lifetime National Associate of the National Academies, “In recognition of extraordinary service to the National Academy of Science.” She has been designated “A Local Legend from Washington” by Senator Maria Cantwell, in association with the American Medical Women’s Association and the U.S. National Library of Medicine. Her abilities as a scholar and a leader have been recognized by her election as 2021 President of the American Society of Human Genetics. In addition to that service, leading the Division of Medical Genetics and actively pursuing her own research, she continues to be a practicing clinician in Internal Medicine and Medical Genetics.
Clinical activity: Dr Jarvik sees patients in the UW Genomic Medicine clinic.
Trainees: Dr. Jarvik has trainees at all levels from undergraduate to postdoctoral.
Research: Dr. Jarvik is interested in the genetic basis of complexly inherited disease and has a long-standing interest in biomedical ethics. In addition to many collaborations, including GWAS studies of multiple phenotypes and exomic analyses of Mendelian disorders, Dr. Jarvik's ongoing research focuses on these major areas:
Complex disease discovery. Exome sequence and genome-wide association studies (GWAS) of phenotypes from clinical electronic medical records in the eMERGE consortium. This consortium includes over 105,000 participants at 9 sites. Phenotypes of interest include colorectal cancer, white blood cell count, susceptibility to infection (including COVID-19), lipid disorders and carotid artery disease.
Genomic medicine implementation.
eMERGE: Dr. Jarvik is a PI of the electronic Medical Records and GEnomics network funded by NHGRI. In addition to a large legacy dataset, eMERGE is now working to implement polygenic risk scores in 25,000 participants across 10 sites. Dr. Jarvik has long been interested in the return of genomic results to research participants and the rate of genomic incidental findings.
UDN: Dr. Jarvik is PI in the Undiagnosed Disease Network, funded by the NIH Common Fund. Patients who have remained undiagnosed are evaluated by multiple methods, including Omics, to try to discover the cause of their illness.
All of Us: Dr. Jarvik is a MPI with Drs. Nickerson and Eichler as a sequencing center in a the national genomic medicine cohort study.
CSER: Dr. Jarvik is a PI of the Clinical Sequencing Exploratory Research Consortia funded by NHGRI. The highly collaborative UW work involves implementation of genomic medicine for cancer and polyposis patients, including return of incidental genomic findings and formal outcomes measures. Variant pathogenicity classification has been one focus of this work.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group, Jarvik GP. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 107(5):932-941, 2020. (PMID: 33108757. PMCID: PMC7675005.)
Gordon AS, Zouk H, Venner E, Eng CM, , Funke BH, Amendola LM, Carrell DS, Chisholm RL, Chung WK, Denny JC, Fedotov, A, Hakonarson H, Kullo IJ, Larson EB, Leduc MS, Leppig KA, Lennon NJ, Linder JE, Muzny DM, Prows CA, Rasmussen-Torvik LJ, PhD, Rasouly HM, Roden DM, Rosenthal EA, Smith ME, Stanaway IB, Van Driest SL, Walker K, Wiesner GL, Williams MS, Witkowski L, Crosslin DR, Gibbs RA, Rehm HL, The eMERGE Clinical Annotation Working Group, and Jarvik GP. Frequency of genomic incidental findings among 21,915 eMERGE network participants. Genet Med. 22(9):1470-77, 2020. (PMID: 32546831. PMCID: PMC7713503.)
Palmer MR, Kim DS, Crosslin DR, Stanaway IB, Rosenthal EA, Carrell DS, Cronkite DJ, Gordon A, Du X, Li YK, Williams MS, Weng C, Feng Q, Li R, Pendergrass SA, Hakonarson H, Fasel D, Sohn S, Sleiman P, Handelman SK, Speliotes E, Kullo IJ, Larson EB; eMERGE Consortium, Jarvik GP. Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. Genet Epidemiol. 2020;1-12. doi: 10.1002/gepi.22360. Epub ahead of print. (PMID: 32964493.)
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group, Burke W. Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. Am J Hum Genet. 94(6):818-26, 2014. (PMID: 24814192. PMCID: PMC4121476.)
Jarvik GP, Evans JP. Mastering genomic terminology. Genet Med. 19(5): 491–492, 2017. (PMID: 27657676. PMCID: PMC5776698.)