Evidence map›Paper›PMID 41628932›Full record

ReviewBMJ open2026

Embedding ethics into Genomics England's Generation Study.

Harriet Etheredge, Natalie Banner, Meekai To, Amanda Pichini, Joanna Ziff, Mathilde Leblond, Alice Tuff-Lacey, Richard Scott, Ellen Thomas

Abstract readReview
In one paragraph

Review in BMJ open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Harriet EtheredgeGenomics England Limited, London, UK harriet.etheredge@genomicsengland.co.uk.ORCID http://orcid.org/0000-0002-2581-5754
Natalie BannerGenomics England Limited, London, UK.
Meekai ToGenomics England Limited, London, UK.
Amanda PichiniGenomics England Limited, London, UK.
Joanna ZiffGenomics England Limited, London, UK.
Mathilde LeblondGenomics England Limited, London, UK.
Alice Tuff-LaceyGenomics England Limited, London, UK.
Richard ScottGenomics England Limited, London, UK.
Ellen ThomasGenomics England Limited, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The Generation Study is a large-scale research initiative led by Genomics England in partnership with the National Health Service, aiming to evaluate the use of whole genome sequencing in newborn screening, as well as ongoing research use of these genomic data. The Generation Study will sequence 100 000 newborn genomes in England to potentially identify approximately 200 rare and treatable conditions. This paper outlines the study's approach to embedding ethics from inception through implementation. A model of 'ethical embeddedness' that emphasises transparency, trustworthiness and responsiveness to uncertainty is utilised. Drawing on the deliberations of a multidisciplinary Ethics Working Group, public dialogue findings and design research, the paper presents key decisions and our approach to complex ethical challenges including consent, potential impact of the study on clinical services and navigating uncertainty. The paper also reflects on the ethical tensions inherent in balancing research ambitions with operational realities, particularly in a context of evolving genomic science and sometimes limited regulatory clarity. By embedding ethics into the study's design and delivery, we hope to foster public trust and inform future policy and practice.

Indexed as

GenomicsNeonatal ScreeningWhole Genome SequencingEnglandHumansInfant, NewbornInformed ConsentResearch DesignState MedicineGenomic MedicineMass ScreeningMEDICAL ETHICS

Identifiers

PMID41628932
PMCPMC12878374

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.