AbstractsMedical & Health Science

New technologies and reduced costs now allow whole genome sequencing (WGS) to be considered in a range of clinical care and public health settings. One possible use of WGS is as a tool in state-mandated public health newborn screening (NBS) programs. However, few studies have explored the implications of integrating this technology into the NBS setting, and none have explored care providers’ views on the subject. Stakeholder views are critical to understanding the ethical and appropriate novel clinical use of this technology. The purpose of this study was to investigate clinicians’ perspectives on this topic as part of a larger effort to understand stakeholder views on integrating WGS into public health NBS. We held three focus groups with medical doctors, nurse practitioners, and nurse midwives, working in pediatric and prenatal settings. We provided information on current NBS and the potential differences with WGS. Discussion topics included perspectives on current NBS, NBS with WGS, return of results, consent, and policy recommendations. Focus groups were transcribed verbatim, and analyzed using a content analysis approach. Our analysis is organized around four key themes: A) providers are not ready for NBS with WGS, B) WGS would create new moral considerations for providers, C) clinicians would be comfortable with PGx results, and D) clinicians want support from genetic counselors (GCs) for pre-test and post-test counseling. If WGS were implemented with these results in mind, more resources would be required in order to include more GCs in the NBS process and to better prepare other clinicians to educate their patients and manage test results. Furthermore, the focus of GC sessions across specialties would shift from decision making to results interpretation. Finally, policy makers would need to modify consent processes and make decisions regarding return of adult-onset results, and protocol around the clinical use of PGx results. These data show that if WGS were introduced in this setting, fundamental changes would need to be made to the current public health NBS system and the field of genetic counseling. Advisors/Committee Members: Joseph, Galen (advisor).