UC Irvine

ABSTRACT OF THE THESIS

Exploring Evidence for Utility of Genomic Medicine Approaches for Individuals, Families and Societyby Anne Marie Murphy Westreich Master of Science in Genetic Counseling University of California, Irvine, 2021 Professor Emeritus Moyra Smith, MD, PhD, DACMG, Chair Genomic medicine holds promise to significantly improve human health. While a growing body of evidence suggests genomic approaches can improve disease management, more evidence – particularly on adults and individuals of non-European ancestry and lower socioeconomic status – is needed on clinical utility to spur widespread clinical implementation. Through a retrospective chart review of referrals and genetics consultation notes at one adult genetics clinic, this study explored evidence for utility of genomic medicine approaches for individuals, families and society. The study demonstrated a genomic testing diagnostic yield of 36%. Individuals who did not report European ancestry were more likely to be diagnosed via genomic testing (69%) than those of European ancestry (26%). The mean number of specialists previously seen was 2.9. The mean years from first symptom to genetics evaluation was 15.6 years. Significantly more in-person patients followed through on testing than did telemedicine patients (77% versus 42%). Telemedicine patients experienced a quicker turnaround time from appointment to results than in-person patients. Twenty-five percent of patients received a referral to at least one medical specialist. Ninety percent of patients suspected to have a genetic condition received condition education. Seven percent of patients were prescribed a treatment. Sixteen percent of those suspected to have a genetic condition received resources. Inheritance pattern education was provided for 83%. Cascade testing for family members was recommended 54% of the time in diagnosed patients. Twenty-three percent of diagnosed patients received a family letter. Clinical notes documenting visits were sent to primary care physicians or referring providers in nearly every instance (98%). Two percent of patients suspected to have a genetic condition were referred for research participation after the clinic visit. The study demonstrated a genomic testing diagnostic yield in line with the literature and confirmed and further delineated the “diagnostic odyssey” experienced by rare disease patients, as well as the test ordering and completion processes in an adult population. It documented individuals, family and society are receiving services beyond diagnosis and medical management, such as education, resources and referrals – offerings likely construed as valuable. In so doing this study offers insights into opportunities and challenges for the health care community to consider when implementing genomic medicine approaches and caring for patients.