Date of Award
Thesis - Open Access
MS in Human Genetics
Erin Ash, MS, ACGC
The purpose of population genomic screening programs is to help in prevention and treatment of conditions that takes into account an individual’s unique genetics, environmental, and lifestyle factors. Through this “genome-first” approach, individuals at increased lifetime risk for certain conditions are identified, allowing them and their relatives to qualify for preventative medical care and surveillance (Schwartz et al., 2018). An example institution that utilizes this approach is Geisinger’s MyCode Community Initiative, where their goal is to “make healthcare better” through research and its application to patient care (MyCode Community Health Initiative, n.d.). MyCode reports back medically actionable results for conditions associated with increased risks for cardiovascular diseases and developing cancer. One of the hereditary cancer syndromes that MyCode reports back to clinical care is Lynch syndrome (LS), a condition with nationally recognized guidelines for preventative surveillance measures. MyCode participants with an LS-associated variant have an interdisciplinary approach to medical care made available to them, being offered optional access to methods of facilitating family communication, instituting changes to medical management, and considering lifestyle modifications. In this study, 17 MyCode participants who received actionable LS results were interviewed to assess potential facilitators and barriers affecting family communication, follow-up medical care, and modifying lifestyle.
Bux, Reem Ibrahim and Delehoy, Brooke Nicole, "The Impact of a Lynch Syndrome Diagnosis by Population Genomic Screening on Family Communication, Medical Management, and Lifestyle Changes" (2021). Human Genetics Theses. 101.