"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^#^{1

2}, Jana Gurasashvili^#^{1

2}, Michelle Peter^{1

2}, Morgan Daniel^{1

2}, Meena Balasubramanian^{3

4}, Lucy Bownass⁵, Paul Brennan⁶, Ruth Cleaver⁷, Virginia Clowes⁸, Philandra Costello⁹, Bianca DeSouza⁸, Louise Dubois¹⁰, Rachel Harrison¹¹, Lara Hawkes¹², Elizabeth A Jones^{13

14}, Alison Kraus¹⁵, Meriel McEntagart¹⁶, Suresh Somarathi¹⁷, Amy Taylor¹⁸, Vishakha Tripathi¹⁹, Lyn S Chitty^{1

2}, Melissa Hill^{20

21}

Affiliations

¹ NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
² Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
³ Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
⁴ Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
⁵ Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
⁶ Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
⁷ Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁸ North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
⁹ Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
¹⁰ Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
¹¹ Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
¹² Oxford Centre for Genomic Medicine, ACE building, Nuffield Orthopaedic Centre, Oxford, UK.
¹³ Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
¹⁴ Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
¹⁵ Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
¹⁶ Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, UK.
¹⁷ Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
¹⁸ Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.
¹⁹ Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
²⁰ NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. melissa.hill@ucl.ac.uk.
²¹ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK. melissa.hill@ucl.ac.uk.

^# Contributed equally.

PMID: 39496896
PMCID: PMC12322091
DOI: 10.1038/s41431-024-01716-6

"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 et al. Eur J Hum Genet. 2025 Aug.

. 2025 Aug;33(8):1025-1034.

doi: 10.1038/s41431-024-01716-6. Epub 2024 Nov 5.

Authors

Affiliations

¹ NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
² Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
³ Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
⁴ Division of Clinical Medicine, University of Sheffield, Sheffield, UK.
⁵ Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
⁶ Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
⁷ Peninsula Clinical Genetics Service, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
⁸ North West Thames Regional Genetics Service, Northwick Park and St Mark's Hospital, London, UK.
⁹ Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
¹⁰ Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
¹¹ Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
¹² Oxford Centre for Genomic Medicine, ACE building, Nuffield Orthopaedic Centre, Oxford, UK.
¹³ Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
¹⁴ Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
¹⁵ Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
¹⁶ Medical Genetics, Clinical Developmental Sciences, St. George's University of London, London, UK.
¹⁷ Clinical Genetics Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
¹⁸ Clinical Genetics, East Anglian Medical Genetics Service, Cambridge, UK.
¹⁹ Department of Clinical Genetics, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
²⁰ NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. melissa.hill@ucl.ac.uk.
²¹ Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK. melissa.hill@ucl.ac.uk.

^# Contributed equally.

PMID: 39496896
PMCID: PMC12322091
DOI: 10.1038/s41431-024-01716-6

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.

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Conflict of interest statement

Competing interests: The authors declare no competing interests. Ethics: Ethics approval was obtained from the West Midlands – Edgbaston NHS Research Ethics Committee (15/WM/0258).

Figures

**Fig. 1**
Overview of the national process for returning AFs from the 100kGP.

**Fig. 2. National pathway and identified local variation when returning AFs in the 100kGP.**
AF additional finding, PAF positive additional finding, NAF no additional finding, FH familial hypercholesterolaemia.

**Fig. 3. Summary of lessons from professionals involved in returning AFs from the 100kGP.**
Key: AF additional finding, NAF no additional finding.

See this image and copyright information in PMC

References

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous