ELSIcon2022 • Paper • June 1, 2022
Aaron Goldenberg, Beth Tarini, Natasha Bonhomme, Amy Gaviglio
As with much of society, public health and medicine have been called to examine and act on opportunities to provide more equitable care and services. Newborn screening (NBS) in the US has been heralded as a successful public health program that provides universal access to early detection of rare diseases. However, whether this universality is maintained throughout all parts of the NBS system is unclear. Indeed, inequity concerns have arisen in many parts of the NBS system, including education, state-based disease panels, timeliness to diagnosis, access to treatment, as well as participation in NBS-related research. More recently, many policy and practice components of NBS have also been highlighted as potential areas of disparity, including the decision-making process to add conditions to state panels. This presentation will examine the spectrum of the NBS system, evaluating areas where disparities likely exist, identifying gaps in data availability that limit our understanding of equity challenges, and consider actionable next steps to address disparities. We will focus on issues in access to screening, diagnosis and treatment including existing standards of care as well as access to innovative therapies. Additionally, we will examine gaps in representation of underserved and underrepresented populations in NBS-related research activities. Finally, we will discuss future opportunities for the NBS and genetics communities to better assess disparities, address identified issues, and identify possible pathways to leverage existing and new partnerships between NBS stakeholders to collectively address system wide equity and maintain the benefits of NBS programs for all newborns and their families.