Psychological, social, and ethical implications of population-based genetic testing among adults: a systematic scoping review protocol with a focus on cancer
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Le résumé fourni par la source
The standard clinical genetic testing model for hereditary cancers applies stringent eligibility criteria and consistently misses large numbers of at-risk cancer-susceptibility-gene (CSG) carriers in the general population, leading to missed opportunities for cancer screening/prevention. Advances in technology and understanding of genetics make it possible to expand such testing beyond clinical settings, across different countries and various healthcare settings. Population-based genetic testing (PBGT), which involves offering genetic testing to a broad, unselected population, is a promising strategy for identifying high-risk yet unaffected individuals, helping to maximise prevention and early detection. Successful large-scale implementation of PBGT requires it to be psychologically acceptable, socially responsible, and ethically sound. This review will examine the evidence on psychological, social, and ethical aspects explored in PBGT studies, assess the quality of evidence, and highlight gaps to inform the future design and implementation of PBGT programmes. A systematic scoping review will be conducted across three databases (PubMed, Embase, PsycINFO). Studies are eligible if they: (1) are peer-reviewed; (2) are published between 1994 and 2025; (3) are written in English; (4) recruit otherwise healthy adults (≥18 years); (5) offer predictive germline genetic testing for CSGs, or hypothetical genetic testing and are inferred as population-based; and (6) assess psychological, social, and/or ethical implications. Four reviewers will undertake study screening, data extraction, and evidence synthesis. Data will be extracted from included full-text articles by two independent reviewers. Study quality will be evaluated using the Mixed Methods Appraisal Tool. This systematic scoping review synthesises empirical evidence on the psychological, social, and ethical implications of PBGT. Protocol publication increases transparency and minimises biases such as the selective reporting of outcomes, enhancing the reliability of our findings. The review findings will provide an initial evidence base within the broader assessment of PBGT, highlighting additional evidence needed to inform future research, policy, and practice to support the responsible implementation of PBGT programmes. The Open Science Framework registration number: osf.io/zwjxg.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Psychological, social, and ethical implications of population-based genetic testing among adults: a systematic scoping review protocol with a focus on cancer
- Date Crossref
- 02/09/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Queen Mary University of London Wolfson Institute of Population Health pays non établi dans la noticeUniversité ou école supérieure
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Barts Health NHS Trust pays non établi dans la noticeÉtablissement de santé
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Royal London Hospital Department of Gynaecological Oncology pays non établi dans la noticeÉtablissement de santé
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Hebrew University of Jerusalem pays non établi dans la noticeUniversité ou école supérieure
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Jerusalem Institute for Israel Studies pays non établi dans la noticeOrganisation à but non lucratif
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Shaare Zedek Medical Center pays non établi dans la noticeÉtablissement de santé
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London School of Hygiene & Tropical Medicine Department of Health Services Research and Policy pays non établi dans la noticeUniversité ou école supérieure
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Faculty of Medicine pays non établi dans la noticeUniversité ou école supérieure
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The Eisenberg R&D Authority pays non établi dans la noticeOrganisme public
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The Fuld Family Medical Genetics Institute pays non établi dans la noticeStructure de recherche
Wolfson Institute of Population Health — Queen Mary University of London, Barts Health NHS Trust et Department of Gynaecological Oncology — Royal London Hospital, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.