UW Genome Sciences

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) at the UW Medical Center (UWMC) and an Affiliate Member of the Fred Hutchinson Cancer Research Center. Her honors include being 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 adult patients in the UW Genomic Medicine clinic.

Trainees:  Dr. Jarvik works with 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 and prediction. Exome sequence and genome-wide association studies (GWAS) of phenotypes from clinical electronic medical records in the electronic Medical Records and GEnomics  (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. 
Dr. Jarvik is a PI of the network funded by NHGRI. In addition to a large legacy dataset, eMERGE is now working to implement polygenic risk scores for 10 common disease in 25,000 participants across 10 sites, including 2500 UWMC patients. These participants will be followed to determine the impact of this information on their clinical outcomes. 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. Patients who have remained undiagnosed despite long diagnostic journeys are evaluated by multiple methods, including multi-Omics, to try to discover the cause of their illness.
All of Us: Dr. Jarvik is a PI with Drs. Wei and Eichler as a sequencing center in a the national genomic medicine cohort study. 

Selected Publications:

Genomic data in the All of Us Research Program. All of Us Research Program Genomics Investigators. Nature. 2024 Mar;627(8003):340-346. doi: 10.1038/s41586-023-06957-x. Epub 2024 Feb 19. (PMID: 38374255)

Linder JE, Allworth A, Bland ST, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, et al.   Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genet Med. 2023 Jan 6;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6. (PMID: 36621880)

Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. Ferar K, Hall TO, Crawford DC, Rowley R, Satterfield BA, Li R, Gragert L, Karlson EW, de Andrade M, Kullo IJ, McCarty CA, Kho A, Hayes MG, Ritchie MD, Crane PK, Mirel DB, Carlson C, Connolly JJ, Hakonarson H, Crenshaw AT, Carrell D, Luo Y, Dikilitas O, Denny JC, Jarvik GP, Crosslin DR.Sci Rep. 2023 Oct 28;13(1):18532. doi: 10.1038/s41598-023-45649-4. (PMID: 37898691)

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.)