“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England
Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1282034/full |
| _version_ | 1797366604623773696 |
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| author | Bettina Friedrich Cecilia Vindrola-Padros Anneke M. Lucassen Anneke M. Lucassen Chris Patch Angus Clarke Monica Lakhanpaul Celine Lewis Celine Lewis |
| author_facet | Bettina Friedrich Cecilia Vindrola-Padros Anneke M. Lucassen Anneke M. Lucassen Chris Patch Angus Clarke Monica Lakhanpaul Celine Lewis Celine Lewis |
| author_sort | Bettina Friedrich |
| collection | DOAJ |
| description | Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout.Methods: Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022.Results: Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the “mainstreaming agenda”, whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having “genomic champions” embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public.Conclusion: Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time. |
| first_indexed | 2024-03-08T17:06:11Z |
| format | Article |
| id | doaj.art-b3715c433b3d4da385f389dcbcfdc452 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-08T17:06:11Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-b3715c433b3d4da385f389dcbcfdc4522024-01-04T04:41:33ZengFrontiers Media S.A.Frontiers in Genetics1664-80212024-01-011410.3389/fgene.2023.12820341282034“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in EnglandBettina Friedrich0Cecilia Vindrola-Padros1Anneke M. Lucassen2Anneke M. Lucassen3Chris Patch4Angus Clarke5Monica Lakhanpaul6Celine Lewis7Celine Lewis8Population, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, United KingdomDepartment of Targeted Intervention and Rapid Research Evaluation and Appraisal Lab (RREAL), University College London, London, United KingdomClinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United KingdomCentre for Personalised Medicine, The Wellcome Centre for Human Genetics, Oxford, United KingdomEngagement and Society, Wellcome Connecting Science Wellcome Genome Campus, Hinxton, United KingdomDivision of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, United KingdomPopulation, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, United KingdomPopulation, Policy and Practice, UCL Great Ormond Street Institute of Child Health, London, United KingdomLondon North Genomic Laboratory Hub, London, United KingdomBackground: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout.Methods: Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022.Results: Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the “mainstreaming agenda”, whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having “genomic champions” embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public.Conclusion: Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time.https://www.frontiersin.org/articles/10.3389/fgene.2023.1282034/fullgenomic medicine servicewhole genome sequencingimplementation researchbarriers and enablersqualitativeservice evaluation |
| spellingShingle | Bettina Friedrich Cecilia Vindrola-Padros Anneke M. Lucassen Anneke M. Lucassen Chris Patch Angus Clarke Monica Lakhanpaul Celine Lewis Celine Lewis “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England Frontiers in Genetics genomic medicine service whole genome sequencing implementation research barriers and enablers qualitative service evaluation |
| title | “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England |
| title_full | “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England |
| title_fullStr | “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England |
| title_full_unstemmed | “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England |
| title_short | “A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England |
| title_sort | a very big challenge a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in england |
| topic | genomic medicine service whole genome sequencing implementation research barriers and enablers qualitative service evaluation |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1282034/full |
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