Evidence map›Paper›PMID 39496896›Full record

ArticleEuropean journal of human genetics : EJHG2025

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

Bethany Stafford-Smith, Jana Gurasashvili, Michelle Peter, Morgan Daniel, Meena Balasubramanian, Lucy Bownass, Paul Brennan, Ruth Cleaver, Virginia Clowes, Philandra Costello and 12 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Genomic medicine in full bloom: a summer farewell issue.European journal of human genetics : EJHG · 2025
    Article
  8. Review
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

22 authors.

Bethany Stafford-Smith *NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Jana Gurasashvili *NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Michelle PeterNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Morgan DanielNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID 0000-0002-4455-5521
Meena BalasubramanianSheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Lucy BownassClinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Paul BrennanNorthern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
Ruth CleaverPeninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
Virginia ClowesNorth West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
Philandra CostelloWessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Bianca DeSouzaNorth West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
Louise DuboisLiverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Rachel HarrisonDepartment of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
Lara HawkesOxford Centre for Genomic Medicine, ACE building, Nuffield Orthopaedic Centre, Oxford, UK.
Elizabeth A JonesManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Alison KrausYorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Meriel McEntagartMedical Genetics, Clinical Developmental Sciences, St. George's University of London, London, UK.
Suresh SomarathiClinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Amy TaylorClinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.
Vishakha TripathiDepartment of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, UK.ORCID 0000-0001-8118-8364
Lyn S ChittyNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Melissa HillNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. melissa.hill@ucl.ac.uk.ORCID 0000-0003-3900-1425

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists. Interviews were analysed using a codebook thematic analysis approach. Returning AF results has been a significant endeavour, with challenges for pathways, administrative processes and clinical and laboratory time when the capacity of NHS services is already stretched. Professionals discussed going "above and beyond" to prioritise patient care through pathway design, additional clinics, overtime, longer appointments and provision of follow-up appointments. Professionals also described facing practical and emotional challenges when returning AFs. Benefits for patients from receiving AFs in the 100kGP were highlighted and professionals were generally positive about offering clinically actionable AFs within routine NHS clinical care. Professionals were, however, cautious around the implementation of AFs into routine care and felt more research and discussion was needed to determine which AFs to offer, approaches to consent and communication of results, costs and the potential strain on NHS capacity and resources. Further consultation is required with careful review of pathways and resources before offering AFs in clinical practice.

Indexed as

Attitude of Health PersonnelGenetic TestingHealth PersonnelEnglandGenetic CounselingHuman Genome ProjectHumans

Identifiers

PMID39496896
PMCPMC12322091

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.