A GA4GH tool for implementers of genomic sequencing for newborn screening to navigate ethical, legal, and social issues.
Newborn screening (NBS) programs are a public health program designed to identify newborns who would benefit from pre-symptomatic treatment. Many research projects and pilot studies around the world are currently assessing the integration of genomic sequencing into NBS programs (gNBS).
Any entity seeking to implement gNBS – as research projects, pilot programs, or full implementation — needs to engage with a wide variety of ethical, legal, and social implications (ELSI) in order to successfully deliver benefits to screened newborns and their families whilst also mitigating possible harms. Indeed, successful navigation of ELSI is vital to building public trust in gNBS and also to maintaining existing public trust in newborn screening.
This tool sets out the decision points with significant ELSI components relevant to gNBS implementers. “Implementers” include those who are designing and implementing research projects, pilot studies, or actual deployment.
The tool serves two purposes. First, to help implementers identify, assess, and address ELSI, and second, to provide a framework by which implementers can capture key choices made and their rationale, in a format that facilitates comparison, learning and common evaluative metrics between programs.