Many research projects around the world are assessing the integration of genome sequencing into newborn screening (gNBS). While the practice offers the promise to identify many more asymptomatic at-risk newborns than traditional newborn screening, gNBS has many potential ethical, legal, and social implications (ELSI). Formed by the Regulatory & Ethics Work Stream (REWS), the gNBS working group seeks to respond to the increasing interest in gNBS by identifying key overarching ideas, strategic questions, and decision points with ELSI that those working in the gNBS field face. Their product, a policy tool, is designed both to enable individual gNBS projects to chart their course through the ELSI they encounter, and to provide a framework for projects around the world to compare their approaches and learn from each other.
Explore the policy tool (and interactive version of the tool), along with the associated syntheses of the literature for decision points those in the gNBS field face with ELSI.
Benefits
- Aims to develop guidance on the ethical, legal and social implications (ELSI) surrounding genomic sequencing in newborn screening.
- Responds to the increasing interest in genomic sequencing in newborn screening by providing a policy tool designed to help implementers of these projects to navigate the ELSI dimensions they will face. It does this primarily via identifying the decision points they will face that have ELSI dimensions, and synthesising the existing literature related to each decision point.
Target users
Researchers, clinicians, clinical laboratories, and research institutes
Announcements
Publications
| Title | Author(s) | Year |
|---|---|---|
| Navigating ethical, legal and social implications in genomic newborn screening | 2026 |
Documents
| Date | Title |
|---|---|
| 12 December 2025 | Genomic sequencing in newborn screening policy tool |
| 11 December 2025 | Genomic sequencing in newborn screening literature synopsis |
