Design, implementation, and evaluation of genomic newborn screening programs: researchers’ perspectives on ethical considerations

Genomic newborn screening (gNBS) has been proposed as an expansion of traditional newborn screening to enable early identification of hundreds of genetic conditions. As gNBS programs move from research pilots toward population-level implementation, the ethical, legal, and social implications (ELSI) have shifted from largely hypothetical concerns to pragmatic challenges embedded in program design, implementation, and evaluation. This study aimed to assess how gNBS researchers perceive and prioritize the most pressing ethical issues they encounter, in order to inform embedded empirical ethics and support responsible scale-up of gNBS. We administered a survey to members of the International Consortium on Newborn Sequencing (ICoNS). The survey assessed researchers’ perspectives on ethical priorities across three phases of gNBS programs (design, implementation, and evaluation), perceived programmatic obligations, actions needed to build trustworthiness, and the relative importance of various outcome measures. Descriptive statistics were used to summarize responses to ranked choice and Likert-scale items, and open-ended responses were descriptively coded. Eighty-two participants completed at least one survey item. Participants identified decisions about which genomic results to return, access to follow-up care, and assessment of newborn clinical outcomes as the most pressing ethical challenges across program phases. Strong consensus emerged that gNBS programs have ethical obligations to ensure equitable access to sequencing, follow-up services, genetic counseling, and cascade testing for family members when indicated. To enhance trustworthiness, participants prioritized clear education and transparent communication over formal community advisory structures. Clinical outcomes for the child were consistently ranked as more important than familial psychosocial outcomes or program costs. Although many programs reported some form of public or participant engagement, approaches varied widely. These findings suggest substantial alignment between long-standing normative bioethics debates and the ethical pressures experienced by researchers. At the same time, comments indicating urgency, utilitarian reasoning, and concern about slowing implementation highlight the need for embedded ELSI expertise that can operate in parallel with scientific and clinical work. Embedded ethics research in gNBS programs is critical for guiding real-time decisions, mitigating unintended harms, and sustaining public trust as genomic screening expands.