New GA4GH product helps gNBS implementers navigate ethical, legal, and social issues

3 Mar 2026

The GA4GH Regulatory & Ethics Work Stream has published a newly approved product: A tool for implementers of genomic sequencing for newborn screening (gNBS) to navigate ethical, legal, and social issues (ELSI). The tool outlines guidance for 59 decision points that implementers face when establishing gNBS programmes.

By Jaclyn Estrin, GA4GH Senior Science Writer

GA4GH is pleased to announce a newly approved policy tool from the Regulatory & Ethics Work Stream (REWS), entitled “A tool for implementers of genomic sequencing for newborn screening to navigate ethical, legal, and social issues [ELSI].” Featured in Nature Reviews Genetics earlier this month, the policy tool provides a framework to help implementers of newborn sequencing programmes make informed decisions when navigating ELSI.

The development of this policy tool was led by Anna Lewis (Brigham and Women’s Hospital; Harvard Medical School) and Yvonne Bombard (St. Michael’s Hospital, Unity Health Toronto; University of Toronto), with support from GA4GH Policy and Engagement Officer, Gemma Brown (Wellcome Sanger Institute).

For over sixty years, government-funded public health programmes in high income countries around the world have implemented newborn screening (NBS) as a way to identify congenital health conditions in babies even before symptoms present themselves. Screenings at this earliest age have been proven to save lives, prompt further diagnostic testing, and inform lifelong health care decisions.

Many research programmes are now exploring integration of genome sequencing into the newborn screening process — this joint approach abbreviated as “gNBS”. Advancements in sequencing technologies have reduced costs and sped up possible diagnoses, which can prompt more personalised care. Furthermore, genomic information can bolster the medical insights gleaned from NBS by contributing valuable data on a baby’s genetic conditions, which may only be ascertained through genomic sequencing. This has the benefit of reducing the time it might otherwise take to reach a diagnosis for children that become symptomatic later in life.

However, new technologies and research endeavors are accompanied by associated ethical, legal, and social implications (ELSI). Careful navigation of ELSI dimensions is crucial for implementers to cultivate and maintain public trust, while fostering a successful gNBS programme. This requires balancing the rights of an individual alongside population health benefits, and considering accessibility, equity, and availability of healthcare infrastructure to support the growth of any gNBS programme.

To respond to this new landscape, the REWS gNBS policy tool outlines prevalent themes, relevant questions, and decision points around these ELSI dimensions. Implementers of gNBS programmes — including research projects, programmes, or jurisdiction-wide implementations — can utilise this tool as a framework to navigate ELSI themselves, as well as compare and learn from how other programmes have addressed these issues.

“New gNBS projects are launching at an exhilarating rate,” said Lewis. “There is a true minefield of ethical, legal and social implications to be navigated for the promise of this approach to be realised, and we set out to create a tool that acts as a map for that process.”

The gNBS working group grounded their policy tool’s development on a human rights centred-approach. The United Nation’s Universal Declaration of Human Rights affirms that all humans have the fundamental right to benefit from science and scientific advancements. The working group further foregrounded the human rights of the child, including “the right of the asymptomatic at-risk child to be found”* and the right of the child “to the highest attainable standard of health” (Convention on the Rights of the Child [1989] art. 24).

Established gNBS screening programmes have the potential to deliver benefits back to patients and their families. The new policy tool was developed to ensure that this can be done successfully and carefully so as not to evoke any undue harm or impede existing beneficial screening programmes.

The policy tool recommends that prior to implementing a gNBS programme, implementers address key strategic questions about the vision, process, long-term strategy, and desired outcomes of the programme to maximise children’s health benefits. This requires implementers to consider whether they have the appropriate health infrastructure in place to be able to support responsive health care management with the return of gNBS results.

The tool then outlines 59 decision points with ELSI dimensions that those implementing gNBS might face, identified by the product team following a scoping review of the gNBS field. Each decision point is accompanied by a summary of associated ELSI concerns and a synthesis of existing literature about that point. The list includes examples of approaches that have already been implemented by gNBS programmes to provide additional context with which prospective implementers can glean insights and compare their own approaches. The 59 decision points are organised under the following 9 sections:

1. Stakeholder engagement during planning
2. Consent models
3. Which conditions to include
4. Testing and laboratory processes
5. Results disclosure and management
6. Post-test clinical management
7. Data management
8. Data revisiting for clinical purposes
9. Evaluation framework, governance systems, and implementation continuity.

Alongside the policy document, the gNBS working group has developed an interactive navigator for implementers to easily work through each decision point and record their own notes throughout the process.

Bombard said, “Genomic newborn screening has the power to transform early detection and lifelong health, but realising that promise will require careful ethical, legal, and social guidance to ensure it strengthens rather than disrupts established newborn screening programmes and preserves the public trust and broad acceptance on which they depend.”

This policy tool lays a strong foundation to support implementers in preparing for and developing gNBS programmes that address ELSI dimensions relevant to their environment. By considering all facets of ELSI, implementers can position themselves to establish successful gNBS programmes that complement existing newborn screening activities to foster the greatest possible positive impact on public health and children’s health futures. 

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* Knoppers, Bartha Maria, Ana Eliza Bonilha, Anne-Marie Laberge, Arzoo Ahmed, and Ainsley J. Newson. 2025. “Genomic Sequencing in Newborn Screening: Balancing Consent with the Right of the Asymptomatic at-Risk Child to Be Found.” European Journal of Human Genetics: EJHG 33 (2): 182–88. https://doi.org/10.1038/s41431-024-01677-w.