Conditions with Manifesting Carriers: Education of Personal Health Outcomes for Carriers Detected by Expanded Carrier Screening
Ashley Zavodnick
Co-Presenters: Individual Presentation
College: The College of Health Professions and Human Services
Major: Genetic Counseling
Faculty Research Mentor: Jill Fischer
Abstract:
Title: Conditions with Manifesting Carriers: Education of Personal Health Outcomes for Carriers Detected by Expanded Carrier ScreeningAuthor: Ashley Zavodnick, Department of Genetic Counseling, Kean UniversityAbstract:Preconception and prenatal carrier screening is designed to inform patients of their reproductive risks. However, some genetic conditions also have personal health implications for carriers. To date, several retrospective chart-review studies have shown that providers do not routinely discuss personal health risks with patients, even when they are carriers of conditions that have health consequences. The purpose of this study was to survey obstetric providers (genetic counselors, obstetricians, and physician assistants) to assess the frequency in which they provide pre- and post-test counseling on personal health implications of 11 conditions known to have carrier manifestations. Additionally, the study aimed to identify the topics covered during these discussions and explore providers’ reasoning for not addressing personal health risks. Participants were recruited to complete the survey through their respective professional organizations. Of the 42 participants, 37 (88%) reported discussing the possibility of receiving a result that has personal health implications in their pre-test counseling. All 42 participants (100%) reported discussing specific personal health during post-test counseling. For each condition, most providers (>80%) included information on personal health implications post-test, most frequently discussing symptoms of the condition, reproductive and family implications, and the chance of manifesting symptoms. The only exception was sickle cell disease, in which only 66% of providers reported discussing personal health implications during post-test counseling. The most common reason given by providers for not discussing personal health implications in post-test counseling was inadequate knowledge about the specific condition. This data is different from the previous literature suggesting there could be under-documentation in patient charts, or that health professionals are more aware of manifesting carrier status since the previous studies. Given that the most common answer for not discussing personal health implications was lack of knowledge, these findings suggest the importance of continuing to educate providers when new carrier risks are discovered.Key words: Genetics, Carrier Screening, Personal Health Risks