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

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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Publication Details

Journal
European Journal of Human Genetics
Published
2024-11-04
DOI
https://doi.org/10.1038/s41431-024-01716-6
Citations
6
Primary Topic
Ethics in Clinical Research
Type
article
Field-Weighted Citation Impact
3.26

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article

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

Paul Brennan, Lara Hawkes, Jana Gurasashvili, Louise Dubois et al.
6 citations
European Journal of Human Genetics
Ethics in Clinical Research
3.26
article

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

Paul Brennan, Lara Hawkes, Jana Gurasashvili, Louise Dubois, Meena Balasubramanian, Philandra Costello, Lyn S. Chitty, Lucy Bownass, Melissa K. Hill, Elizabeth A. V. Jones, Bianca DeSouza, Vishakha Tripathi, Ruth Cleaver, Amy E. Taylor, Suresh Somarathi, Michelle Peter, Bethany Stafford‐Smith, Morgan Daniel, Rachel Harrison, Alison Kraus, Virginia Clowes, Meriel McEntagart
article en
6 citations

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.

European Journal of Human GeneticsVol. 33(8)
St Thomas' Hospital (GB), Nottingham University Hospitals NHS Trust (GB), University of Liverpool (GB), St George's, University of London (GB), Chapel Allerton Hospital (GB), Great Ormond Street Hospital (GB), Great Ormond Street Hospital for Children NHS Foundation Trust (GB), University Hospitals Bristol NHS Foundation Trust (GB), Newcastle upon Tyne Hospitals NHS Foundation Trust (GB), Princess Anne Hospital (GB), Nuffield Orthopaedic Centre (GB), University of Manchester (GB), St Mary's Hospital (GB), Manchester University NHS Foundation Trust (GB), Sheffield Children's NHS Foundation Trust (GB), St Michael's Hospital (GB), St Michael’s Hospital (GB), Genomics (United Kingdom) (GB), Birmingham Women’s and Children’s NHS Foundation Trust (GB), Liverpool Womens NHS Foundation Trust (GB), St Mark's Hospital (GB), St Michaels Hospital (GB), St. Mary's Hospital (GB), University College London (GB), University of Sheffield (GB)
National Institute for Health and Care Research, Department of Health and Social Care, Medical Research Council, Great Ormond Street Institute of Child Health
Openalex Percentile: Top 8%
Ethics in Clinical Research
3.26
DOIOpen Access PDFOpenAlex
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