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Considerations of ethics and equity when using genomics in newborns

As the use of genomics within the newborn period, and potentially within the public health newborn screening (NBS) domain, considerations around ethics and equity must be addressed. While NBS has been heralded as a successful public health program that provides universal access to early detection of rare diseases to all babies born in the United States, it remains unclear whether the universality of NBS has truly resulted in equitable health outcomes for all.

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Amy Gaviglio

Talk description:

Questions around equity in NBS have arisen as they pertain to numerous components, including education, state-based disease panels, timeliness to diagnosis, access to treatment, as well as participation in NBS-related research. All of these need to be explored and addressed in preparation for the continued expansion of NBS to include genomics.

This presentation will discuss components of equity and disparities as they pertain to newborn screening, genomics, and rare disease. Data from APHL’s NewSTEPs national database will be presented illustrating areas of disparities in time to diagnosis and intervention. Considerations around ethics and equity in new technologies like genomics and AI will be discussed. Actionable next steps in addressing known and anticipated disparities will also be presented.

Biography:

Amy Gaviglio MS, CGC is a certified genetic counselor and founder of Connetics Consulting, LLC which provides public health genetics, genomics, and rare disease services nationwide and internationally. She has worked in the newborn screening and rare disease space for the past 17 years. Amy currently works with the Centers for Disease Control and Prevention’s Newborn Screening and Molecular Biology Branch, the Association of Public Health Laboratories (APHL), Expecting Health, RTI International, and several other rare disease organizations. She is co-chair of APHL’s New Disorders in Newborn Screening taskforce and is a member of additional national groups including the Rare Disease Diversity Coalition and EveryLife Foundation’s Community Congress. She also serves on the Executive Board for the International Society of Neonatal Screening and is a member of the MPS Society’s Scientific Advisory Board. Finally, Amy serves as Chair of the NBS Expert Panel for the Clinical and Laboratory Standards Institute and is currently the Chair of Minnesota’s Rare Disease Advisory Council.