CRediT contribution statement
Karoline Freeman (https://orcid.org/0000-0002-9963-2918): Conceptualisation, Investigation, Methodology, Project administration, Supervision, Writing – original draft, Writing – reviewing and editing.
Jacqueline Dinnes (https://orcid.org/0000-0003-1343-7335): Conceptualisation, Investigation, Methodology, Supervision, Writing – original draft, Writing – reviewing and editing.
Bethany Shinkins (https://orcid.org/0000-0001-5350-1018): Conceptualisation, Investigation, Writing – original draft, Writing – reviewing and editing.
Corinna Clark (https://orcid.org/0000-0002-1077-9383): Investigation, Writing – original draft, Writing – reviewing and editing, patient and public involvement contributions (lead).
Inès Kander (https://orcid.org/0000-0002-0634-3616): Investigation, Writing – original draft.
Katie Scandrett (https://orcid.org/0000-0001-6111-2805): Investigation, Writing – original draft.
Shivashri Chockalingam (https://orcid.org/0000-0003-0294-6281): Investigation, Writing – original draft.
Aziza Osman (https://orcid.org/0009-0004-2718-0205): Investigation.
Naila Dracup (https://orcid.org/0000-0001-9372-4654): Investigation, Writing – original draft.
Rachel Court (https://orcid.org/0000-0002-4567-2586): Investigation, Supervision, Writing – original draft.
Furqan Butt (https://orcid.org/0009-0002-8393-3502): Investigation.
Cristina Visitin (https://orcid.org/0009-0006-4250-2924): Conceptualisation, Methodology, Writing – reviewing and editing.
James R Bonham (https://orcid.org/0009-0004-9485-6754): Conceptualisation, Methodology, Writing – reviewing and editing.
David Elliman (https://orcid.org/0000-0002-8128-2825): Conceptualisation, Methodology, Writing – reviewing and editing.
Graham Shortland (https://orcid.org/0000-0002-8994-8468): Conceptualisation, Methodology, Writing – reviewing and editing.
Anne Mackie (https://orcid.org/0009-0002-9975-594X): Conceptualisation, Methodology, Writing – reviewing and editing.
Zosia Miedzybrodzka (https://orcid.org/0000-0003-2890-8136): Writing – reviewing and editing.
Sian M Morgan (https://orcid.org/0000-0002-4943-653X): Writing – reviewing and editing.
Felicity Boardman (https://orcid.org/0000-0002-3268-6276): Methodology, Writing – reviewing and editing.
Yemisi Takwoingi (https://orcid.org/0000-0002-5828-9746): Conceptualisation, Funding acquisition, Methodology, Writing – reviewing and editing.
Sian Taylor-Phillips (https://orcid.org/0000-0002-1841-4346): Conceptualisation, Funding acquisition, Methodology, Supervision, Writing – original draft.
Acknowledgements
We are grateful for the input of the seven members of the PPIE group, who included Kerri Pearce, Matt Howard-Murray, Frances Othen-Wales, Luis Canto E Castro and Helen Bates. The authors would also like to thank Dr Helen Jenkinson, Dr Austen Worth, Dr Emma Footit and Professor Raja Padidela, for their specialist clinical advice on the rare conditions, and Professor Aileen Clarke for her critical review of the manuscript.
Data-sharing statement
No new data have been created in the preparation of this article and therefore there is nothing available for access and further sharing. All queries should be submitted to the corresponding author.
Ethics statement
This report concerns secondary research, for which ethics approval is not required.
Information governance statement
This project did not involve the handling of personal information.
Disclosure of interests
Full disclosure of interests: Completed ICMJE forms for all authors, including all related interests, are available in the toolkit on the NIHR Journals Library report publication page at https://doi.org/10.3310/DJRF1124.
Primary conflicts of interest: Karoline Freeman, Jacqueline Dinnes, Bethany Shinkins, Corinna Clark, Inès Kander, Katie Scandrett, Shivashri Chockalingam, Aziza Osman, Naila Dracup, Rachel Court, Furqan Butt, Felicity Boardman, Yemisi Takwoingi and Sian Taylor-Phillips received funding from the National Institute for Health and Care Research Evidence Synthesis Programme (ESG_HTA_NIHR159928) to undertake this work. Karoline Freeman received funding from the NIHR (NIHR130107, NIHR202220, NIHR30237). Jacqueline Dinnes and Yemisi Takwoingi were supported by the Birmingham Biomedical Research Centre. Bethany Shinkins is a member of the UK NSC. Corinna Clark and Felicity Boardman received funding from Novartis Gene Therapies to explore the public acceptability of newborn screening for SMA in the UK and from the Public Health England for the evaluation of Next Generation Sequencing for CF Newborn Screening. Cristina Visitin is a research lead at the UK NSC. James R Bonham is President of the International Society of Neonatal Screening and member of the UK NSC Fetal Maternal Child Health group. David Elliman is clinical advisor to the UK NSC and Chair of the UK NSC Blood Spot Task Group. Graham Shortland is Vice Chair of the UK NSC. Anne Mackie is the Director of Programmes for the UK NSC and member of the ESP Evidence Synthesis Groups Funding Committee 2022-present. Zosia Miedzybrodzka is co-chair of the Scottish Clinical Genomics Forum and a committee member of the Clinical Genetics Society, the Scottish Strategic Network for genomic medicine, the NHSE rare disease test evaluation working group and board member of the Royal Colleges Genomics Advisory Board and member of the Diagnostic Technologies and Screening Panel, HTA National Stakeholders Advisory Group 2015–23. Sian M Morgan has nothing to declare. Felicity Boardman received funding from GEL for a process and impact evaluation, MRC/NIHR for a realist evaluation of remote qualitative data collection in health, Wellcome Trust for the development of future research agendas on the socioethical impact of genomics through interdisciplinary live data-sharing and Diabetes UK for the ELSA study. Felicity Boardman is a member of the UK NSC Foetal, Maternal and Child Health Reference Group, the Bloodspot Task group and the Spinal Muscular Atrophy In Service Evaluation Partnership Board. Yemisi Takwoingi is a member of the ESP Evidence Synthesis Groups Funding Committee 2024. Sian Taylor-Phillips is a member of the UK NSC AI task group, chair of the UK NSC Research Methodology Group and a funded co-applicant of the NIHR WM ESG.
Disclaimer
Every effort has been made to obtain the necessary permissions for reproduction, to credit original sources appropriately and to respect copyright requirements. However, despite our diligence, we acknowledge the possibility of unintentional omissions or errors and we welcome notifications of any concerns regarding copyright or permissions.
Publication
Freeman K, Taylor D, Dinnes J, Clark CCA, Kander I, Scandrett K, et al. Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. BMJ Medicine 2025;4:e001726. https://doi.org/10.1136/bmjmed-2025-001726
Disclaimers
This article presents independent research funded by the National Institute for Health and Care Research (NIHR). The views and opinions expressed by authors in this publication are those of the authors and do not necessarily reflect those of the NHS, the NIHR, the HTA programme or the Department of Health and Social Care. If there are verbatim quotations included in this publication the views and opinions expressed by the interviewees are those of the interviewees and do not necessarily reflect those of the authors, those of the NHS, the NIHR, the HTA programme or the Department of Health and Social Care.