Jessica Ezzell Hunter, PhD

Jessica Ezzell Hunter, PhD, is a genetic epidemiologist whose work focuses on the impact that genomic variation has on health outcomes. She has led and collaborated on numerous studies and consortiums to improve health outcomes in individuals with hereditary cancer syndromes, genetic intellectual and developmental disability syndromes, and other complex genetic conditions. Her research portfolio focuses on efforts to increase the diagnosis of individuals at greater genetic risk for health outcomes and to improve the use of this genetic information for health and well-being outcomes.

Dr. Hunter is active with the National Institutes of Health-funded Clinical Genome Resource (ClinGen), for which she serves as scientific lead of the Actionability Working Group, which generates evidence-based assessments of clinical actionability associated with genome variation. She is the co-chair of two ClinGen Working Groups: the Pediatric Actionability Working Group and the Polygenic Risk Score Actionability Working Group. She is the principal investigator of the National Cancer Institute-funded Genetic Risk Assessment in Ovarian Cancer (GRACE) Study, which aims to implement a traceback approach to address a significant health care gap in the identification of individuals at genetic risk for ovarian and other cancers. She collaborates on the Clinical Sequencing Evidence-Generating Research 2 (CSER2) consortium study, Cancer Health Assessments Reaching Many (CHARM), aimed at increasing access to and uptake of genetic services among diverse populations. She collaborated on a study on implementation of universal tumor screening for Lynch syndrome to increase the identification of individuals with Lynch syndrome. She is currently site PI for a Cancer Moonshot Initiative-funded study on optimizing the implementation of universal tumor screening programs for Lynch syndrome (IMPULSS) across diverse health care systems.

Dr. Hunter’s research interests include characterizing outcomes in individuals who have a fragile X-associated premutation allele to guide early intervention practices to improve outcomes in individuals and their families. She is currently a principal investigator on a National Institutes of Health-funded study to characterize neurodevelopmental outcomes in children who have a fragile X-associated premutation allele to help guide early intervention practices. Her research also includes the assessment of risk factors associated with chromosome 21 nondisjunction and clinical outcomes (e.g., congenital heart disease) in Down syndrome. She is currently the principal investigator on a study to better capture and characterize the variable cognitive outcomes in children with Down syndrome.

Dr. Hunter joined CHR in 2013 following postdoctoral training at Emory University and Oregon Health & Science University. She earned her doctorate in genetics and molecular biology from Emory University and her master’s degree in human genetics from Tulane University. Dr. Hunter was an investigator at CHR until 2021, when she took a position as a senior research public health analyst at RTI International. She now serves as an affiliate investigator at CHR in order to continue her research studies as well as foster future collaborations.

Selected Current Studies

• Implementing Universal Lynch Syndrome Screening across Multiple Organizations (NCI)
• ClinGen3: Advancing genomic medicine through biocuration and expert assessment of genes and variants at scale (NHGRI)
• Exome Sequencing in Diverse Populations in Colorado and Oregon (NHGRI)
• Leveraging tumor registries and pathology specimens to facilitate genetic testing and traceback for ovarian cancer (NCI)
• Association of the Fragile X Premutation with Cognitive and Behavioral Skills in Children (NHGRI)
• Capturing and characterizing variability of cognition and behavior in Down syndrome (NHGRI)

Selected Publications

• TL Kauffman, YK Prado, AA Reyes, JM Zepp, J Sawyer, LL White, J Martucci, SB Salas, S Vertrees, AF Rope, S Weinmann, NB Henrikson, SS Lee, HS Feigelson, JE Hunter. (2021) Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol. J Pers Med 11(11): 1194.
• EG Allen, K Charen, HS Hipp, L Shubeck, A Amin, W He, JE Hunter, KE Shelly, SL Sherman. (2021) Predictors of Comorbid Conditions in Women Who Carry an FMR1 Premutation. Front Psychiatry 12: 725922. 
• BA Rolf, JL Schneider, LM. Amendola, JV Davis, KF Mittendorf, MA Schmidt, GP Jarvik, BS Wilfond, KAB, JE Hunter. (2021) Barriers to family history knowledge and family communication among LGBTQ+ individuals in the context of hereditary cancer risk assessment. J Genet Couns [Epub ahead of print, 21 July 2021].
• JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, CL Martin, L Milko, K Muessig, AD Niehaus, J O’Daniel, MA Piper, EM Ramos, SD Schully, AF Scott, A Slavotinek, A Sobreira, N Strande, M Weaver, EM Webber, MS Williams, JS Berg, JP Evans, KAB Goddard, on behalf of the ClinGen Resource. (2016) A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med 18(12): 1258-1268.
• JE Hunter, J Zepp, M Gilmore, J Davis, E Esterberg, KR Muessig, SK Peterson, S Syngal, L Acheson, MD, G Wiesner, J Reiss, KAB Goddard. (2015) Universal tumor screening for Lynch syndrome: Assessment of colorectal cancer patient perspectives on benefits and barriers. Cancer 121(18):3281-3289.
• J Visootsak, L Huddleston, A Buterbaugh, A Perkins, S Sherman, J Hunter. (2015) Influence of congenital heart defects on psychosocial and neurodevelopmental outcomes in children with Down syndrome. Cardiology in the Young [Epub Feb 16].
• J Hunter, O Rivero-Arias, A Angelov, E Kim, I Fotheringham, J Leal. (2014) Epidemiology of fragile X syndrome: A systematic review and meta-analysis. Am J Med Genet A 164(7):1648-1658.
• JE Hunter, EG Allen, M Shin, LJH Bean, A Correa, C Druschel, CA Hobbs, LA O’Leary, PA Romitti, MH Royle, CP Torfs, SB Freeman, SL Sherman. (2013) The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project. Genet Med 15(9):698-705.
• JE Hunter, M Leslie, G Novak, D Hamilton, L Shubeck, K Charen, A Abramowitz, MP Epstein, A Lori, E Binder, JF Cubells, SL Sherman. (2012) Depression and anxiety symptoms among women who carry the FMR1 premutation: impact of raising a child with fragile X syndrome is moderated by CRHR1 polymorphisms. Am J Med Genet B Neuropsychiatr Genet 159(5):549-559.
• JE Hunter, MP Epstein, SW Tinker, KH Charen, SL Sherman. (2008) Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. Genetic Epidemiology 32(6):553-559.