Juliann Savatt, MS, CGC

Research interests

I am passionate about utilizing genomic and health data from patients and population cohorts to increase our understanding of genomic conditions and improve care of patients and their families. I completed my MS in Genetic Counseling at the University of North Carolina at Greensboro and have practiced as a certified genetic counselor in both cancer and pediatric neurodevelopmental clinical settings. I currently hold the position of Assistant Professor in the Department of Genomic Health at Geisinger and co-direct the Geisinger MyCode Community Health Initiative (MyCode) Genomic Screening and Counseling Program that discloses clinically actionable results to MyCode participants.

My research focuses on three main areas 1) enabling patient-centered data sharing through patient registries, 2) utilizing population cohorts to establish variant prevalence, penetrance, and expressivity of Mendelian conditions, and 3) exploring outcomes of population-based genomic screening.

Enabling Patient-Centered Data Sharing Through Patient Registries: Broad sharing of genomic and phenotypic data is needed to inform variant classification, gene-disease validity assessments, and genomic medicine. Through the Clinical Genome Resource (ClinGen), I have led efforts to engage patients in data sharing through GenomeConnect, the ClinGen patient registry and via partnerships with other disease and condition-specific patient registries. Through the coordination of these efforts, I have had the opportunity to gain experience engaging with and recontacting patients for additional research, creating and implementing phenotyping surveys, and establishing a process for patients to engage with their genomic as our knowledgebase shifts.

Utilizing Population Cohorts To Establish Variant Prevalence, Penetrance, and Expressivity of Mendelian Conditions and Exploring Outcomes of Population-Based Genomic Screening: While at Geisinger, I have become increasingly interested in informing our understanding of Mendelian conditions and ensuring patients with genomic variants are receiving appropriate care. I have spearheaded efforts that leverage genomic and health data from MyCode to inform understanding of genomic variants, their prevalence, penetrance, and phenotypic spectrum.

Further, as someone who has contributed to the MyCode Genomic Screening and Counseling program research team for several years and who stepped into the co-director role of the program in October 2022, I am also interested in understanding clinical outcomes following genomic screening and exploring efforts to improve patient care. Through efforts to establish variant prevalence, penetrance, and expressivity and explore outcomes of population-based genomic screening, I have gained experience building and validating electronic health record data extraction algorithms to enable higher throughput and rapidly updatable collection of phenotypes and risk management performance. These algorithms can enable the ongoing data collection necessary to explore patient care and diagnoses longitudinally.