Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.

Simple item page
dc.creatorSeed, Lydia
dc.creatorScott, Anna
dc.creatorPichini, Amanda
dc.creatorPeter, Michelle
dc.creatorTadros, Shereen
dc.creatorSortica da Costa, Cristine
dc.creatorHill, Melissa
dc.date2024-10-14T08:42:59Z
dc.date2024-09-24
dc.date2024-05-24
dc.date2024-10-14T08:42:58Z
dc.date.accessioned2026-08-03T03:52:31Z
dc.descriptionPeer reviewed: True
dc.descriptionAcknowledgements: We are very grateful to all of the medical students who took part in the survey. Thank you to Marissa Willock, Postgraduate Medical Education Department at Great Ormond Street Hospital, for supporting medical student research and facilitating medical students to join research placements at Great Ormond Street Hospital. MP and MH are partially funded by the NIHR Biomedical Research Centre at Great Ormond Street Hospital. All research at Great Ormond Street Hospital NHS Foundation Trust and UCL Great Ormond Street Institute of Child Health is made possible by the NIHR Great Ormond Street Hospital Biomedical Research Centre. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the UK Department of Health.
dc.descriptionPublication status: Published
dc.descriptionBACKGROUND: With the potential to identify a vast number of rare diseases soon after birth, genomic newborn screening (gNBS) could facilitate earlier interventions and improve health outcomes. Designing a gNBS programme will involve balancing stakeholders' opinions and addressing concerns. The views of medical students-future clinicians who would deliver gNBS-have not yet been explored. METHODS: We conducted a nationwide online survey of UK medical students via the REDCap platform. Perceptions of gNBS, including scope of testing and potential benefits and drawbacks, were explored using a mix of multiple-choice questions, Likert scales, visual analogue scales and free-text questions. RESULTS: In total, 116 medical students across 16 universities participated. Overall, 45% supported gNBS, with a positively skewed mean support score of 3.24 (SD 1.26, range: 1.0-5.0), and 55% felt it relevant to their future practice. Almost all agreed that infant-onset and childhood-onset diseases and conditions with effective treatments should be included. Most felt that earlier interventions and personalised care would be the most important benefit of gNBS. Other perceived benefits included earlier diagnoses, diagnosing more patients and enabling research for new treatments. However, several perceived challenges were highlighted: risk of genomic discrimination, incidental or uncertain findings, data security and breaching children's future autonomy. Students expressed conflicting opinions on the psychological impact on families, but most were concerned about a lack of support due to current resource limitations in health services. Students frequently reported having insufficient knowledge to form an opinion, which may reflect gaps in genomics education at medical school and the current lack of evidence base for gNBS. CONCLUSION: Although some support for gNBS was demonstrated, ethicolegal and social challenges were raised, emphasising a need for ongoing discussions about the implications of gNBS.
dc.formattext/xml
dc.formatapplication/pdf
dc.identifier2044-6055
dc.identifierbmjopen-2024-089108
dc.identifierhttps://www.repository.cam.ac.uk/handle/1810/374915
dc.identifier2044-6055
dc.identifier.urihttps://repo.dare.co.zw/handle/123456789/181947
dc.languageen
dc.languageeng
dc.publisherBMJ
dc.publisherhttps://doi.org/10.1136/bmjopen-2024-089108
dc.rightsAttribution-NonCommercial 4.0 International
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.subjectGENETICS
dc.subjectNEONATOLOGY
dc.subjectPAEDIATRICS
dc.subjectPUBLIC HEALTH
dc.subjectHumans
dc.subjectNeonatal Screening
dc.subjectStudents, Medical
dc.subjectInfant, Newborn
dc.subjectCross-Sectional Studies
dc.subjectUnited Kingdom
dc.subjectFemale
dc.subjectMale
dc.subjectSurveys and Questionnaires
dc.subjectGenetic Testing
dc.subjectAttitude of Health Personnel
dc.subjectAdult
dc.subjectGenomics
dc.subjectYoung Adult
dc.titlePerceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.
dc.typeArticle

Files

Collections

University of Cambridge Apollo