Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly impro...
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2022-07-01
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| Series: | NIHR Open Research |
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| Online Access: | https://openresearch.nihr.ac.uk/articles/2-10/v2 |
| _version_ | 1797847581825433600 |
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| author | Melissa Hill Sian Ellard Naomi Fulop Jane Fisher Mark Kroese Marian Knight Kerry Leeson-Beevers Jean Ledger Dominic McMullan Alec McEwan Stephen Morris Rhiannon Mellis Dagmar Tapon Michael Parker Laura Blackburn Holly Walton Emma Baple Caroline Lafarge Asya Choudry Emma Smith Michelle Peter Hannah McInnes-Dean Lauren Roberts Rema Ramakrishnan Sarah L. Wynn Beverly Searle Lyn S. Chitty Wing Han Wu |
| author_facet | Melissa Hill Sian Ellard Naomi Fulop Jane Fisher Mark Kroese Marian Knight Kerry Leeson-Beevers Jean Ledger Dominic McMullan Alec McEwan Stephen Morris Rhiannon Mellis Dagmar Tapon Michael Parker Laura Blackburn Holly Walton Emma Baple Caroline Lafarge Asya Choudry Emma Smith Michelle Peter Hannah McInnes-Dean Lauren Roberts Rema Ramakrishnan Sarah L. Wynn Beverly Searle Lyn S. Chitty Wing Han Wu |
| author_sort | Melissa Hill |
| collection | DOAJ |
| description | Background: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly improve NHS prenatal diagnostic services by increasing genetic diagnoses and informing prenatal decision-making. Prenatal ES has not previously been offered routinely in a national healthcare system and there are gaps in knowledge and guidance. Methods: Our mixed-methods evaluation commenced in October 2020, aligning with the start date of the NHS prenatal ES service. Study design draws on a framework developed in previous studies of major system innovation. There are five interrelated workstreams. Workstream-1 will use interviews and surveys with professionals, non-participant observations and documentary analysis to produce in-depth case studies across all GLHs. Data collection at multiple time points will track changes over time. In Workstream-2 qualitative interviews with parents offered prenatal ES will explore experiences and establish information and support needs. Workstream-3 will analyse data from all prenatal ES tests for nine-months to establish service outcomes (e.g. diagnostic yield, referral rates, referral sources). Comparisons between GLHs will identify factors (individual or service-related) associated with any variation in outcomes. Workstream-4 will identify and analyse practical ethical problems. Requirements for an effective ethics framework for an optimal and equitable service will be determined. Workstream-5 will assess costs and cost-effectiveness of prenatal ES versus standard tests and evaluate costs of implementing an optimal prenatal ES care pathway. Integration of findings will determine key features of an optimal care pathway from a service delivery, parent and professional perspective. Discussion: The proposed formative and summative evaluation will inform the evolving prenatal ES service to ensure equity of access, high standards of care and benefits for parents across England. |
| first_indexed | 2024-04-09T18:13:46Z |
| format | Article |
| id | doaj.art-af33ebd7bc914d6686b2060b3f3fc0ec |
| institution | Directory Open Access Journal |
| issn | 2633-4402 |
| language | English |
| last_indexed | 2024-04-09T18:13:46Z |
| publishDate | 2022-07-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | NIHR Open Research |
| spelling | doaj.art-af33ebd7bc914d6686b2060b3f3fc0ec2023-04-13T11:02:10ZengF1000 Research LtdNIHR Open Research2633-44022022-07-01214410Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]Melissa Hill0https://orcid.org/0000-0003-3900-1425Sian Ellard1Naomi Fulop2Jane Fisher3Mark Kroese4Marian Knight5https://orcid.org/0000-0002-1984-4575Kerry Leeson-Beevers6Jean Ledger7Dominic McMullan8Alec McEwan9Stephen Morris10Rhiannon Mellis11https://orcid.org/0000-0001-9905-0654Dagmar Tapon12Michael Parker13https://orcid.org/0000-0002-7054-4711Laura Blackburn14https://orcid.org/0000-0003-4258-9370Holly Walton15https://orcid.org/0000-0002-8746-059XEmma Baple16Caroline Lafarge17https://orcid.org/0000-0003-2148-078XAsya Choudry18Emma Smith19Michelle Peter20https://orcid.org/0000-0002-4977-8708Hannah McInnes-Dean21Lauren Roberts22Rema Ramakrishnan23https://orcid.org/0000-0002-6784-8319Sarah L. Wynn24https://orcid.org/0000-0003-3837-4764Beverly Searle25Lyn S. Chitty26Wing Han Wu27NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKInstitute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UKDepartment of Applied Health Research, University College London, London, UKAntenatal Results and Choices, London, UKPHG Foundation, University of Cambridge, Cambridge, UKNational Perinatal Epidemiology Unit, University of Oxford, Oxford, UKAlström Syndrome UK, Torquay, UKDepartment of Applied Health Research, University College London, London, UKWest Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UKDepartment of Obstetrics and Gynaecology,, Nottingham University Hospitals NHS Trust, Nottingham, UKDepartment of Public Health and Primary Care, University of Cambridge, Cambridge, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKCentre for Fetal Care, Queen Charlotte's and Chelsea Hospital, Imperial College Healthcare NHS Trust, London, UKThe Ethox Centre, Nuffield Department of Population Health and Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, UKPHG Foundation, University of Cambridge, Cambridge, UKDepartment of Applied Health Research, University College London, London, UKInstitute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UKSchool of Human and Social Sciences, University of West London, London, UKManchester University NHS Foundation Trust, Manchester, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKGenetic Alliance UK, London, UKNational Perinatal Epidemiology Unit, University of Oxford, Oxford, UKUnique - Rare Chromosome Disorder Support Group, Oxted, UKUnique - Rare Chromosome Disorder Support Group, Oxted, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKNHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, London, UKBackground: Prenatal exome sequencing (ES) for the diagnosis of fetal anomalies was implemented nationally in England in October 2020 by the NHS Genomic Medicine Service (GMS). The GMS is based around seven regional Genomic Laboratory Hubs (GLHs). Prenatal ES has the potential to significantly improve NHS prenatal diagnostic services by increasing genetic diagnoses and informing prenatal decision-making. Prenatal ES has not previously been offered routinely in a national healthcare system and there are gaps in knowledge and guidance. Methods: Our mixed-methods evaluation commenced in October 2020, aligning with the start date of the NHS prenatal ES service. Study design draws on a framework developed in previous studies of major system innovation. There are five interrelated workstreams. Workstream-1 will use interviews and surveys with professionals, non-participant observations and documentary analysis to produce in-depth case studies across all GLHs. Data collection at multiple time points will track changes over time. In Workstream-2 qualitative interviews with parents offered prenatal ES will explore experiences and establish information and support needs. Workstream-3 will analyse data from all prenatal ES tests for nine-months to establish service outcomes (e.g. diagnostic yield, referral rates, referral sources). Comparisons between GLHs will identify factors (individual or service-related) associated with any variation in outcomes. Workstream-4 will identify and analyse practical ethical problems. Requirements for an effective ethics framework for an optimal and equitable service will be determined. Workstream-5 will assess costs and cost-effectiveness of prenatal ES versus standard tests and evaluate costs of implementing an optimal prenatal ES care pathway. Integration of findings will determine key features of an optimal care pathway from a service delivery, parent and professional perspective. Discussion: The proposed formative and summative evaluation will inform the evolving prenatal ES service to ensure equity of access, high standards of care and benefits for parents across England.https://openresearch.nihr.ac.uk/articles/2-10/v2prenatal exome sequencing genomic medicine service ethics counselling study protocol mixed methodseng |
| spellingShingle | Melissa Hill Sian Ellard Naomi Fulop Jane Fisher Mark Kroese Marian Knight Kerry Leeson-Beevers Jean Ledger Dominic McMullan Alec McEwan Stephen Morris Rhiannon Mellis Dagmar Tapon Michael Parker Laura Blackburn Holly Walton Emma Baple Caroline Lafarge Asya Choudry Emma Smith Michelle Peter Hannah McInnes-Dean Lauren Roberts Rema Ramakrishnan Sarah L. Wynn Beverly Searle Lyn S. Chitty Wing Han Wu Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] NIHR Open Research prenatal exome sequencing genomic medicine service ethics counselling study protocol mixed methods eng |
| title | Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] |
| title_full | Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] |
| title_fullStr | Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] |
| title_full_unstemmed | Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] |
| title_short | Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved] |
| title_sort | optimising exome prenatal sequencing services express a study protocol to evaluate rapid prenatal exome sequencing in the nhs genomic medicine service version 2 peer review 2 approved |
| topic | prenatal exome sequencing genomic medicine service ethics counselling study protocol mixed methods eng |
| url | https://openresearch.nihr.ac.uk/articles/2-10/v2 |
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