ArticleEuropean journal of human genetics : EJHG2026
A qualitative study exploring young adult's attitudes towards adopting whole genome sequencing into newborn screening programs.
Article in European journal of human genetics : EJHG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
Whole genome sequencing (WGS) has generated interest as a potential way to enhance and expand the scope of newborn screening (NBS) programs. The effective implementation of WGS in NBS programs relies on several factors, including parental perceptions. Young adults are potential future parents when WGS is expected to be fully implemented in NBS programs. Therefore, it is essential to understand their perspectives regarding the integration of WGS into NBS programs. Given that there is a dearth of studies in this topic, we explored the perceptions of young adults about the integration of WGS into NBS programs. We conducted semi-structured qualitative interviews with 58 young adults and used the content analysis to analyze the qualitative data. Our findings provide evidence that the majority of our study participants would choose to have their future newborns undergo WGS in NBS programs. The primary motivation for wanting to do so was that WGS would help them to seek out and take measures to prevent diseases for their children. However, some participants expressed concerns about receiving non-medically actionable WGS results. Our findings highlight the need for policymakers, healthcare providers, and researchers to carefully evaluate the type of WGS results returned to parents before integrating WGS into NBS programs.
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