Skip to contentSkip to content Pezzullo AM, Valz Gris A, Scarsi N, ……….. Kroese M, Pastorino R, Boccia S, A scoping review of the assessment reports of genetic or genomic tests reveals inconsistent consideration of key dimensions of clinical utility , Journal of Clinical Epidemiology (2025) https://doi.org/10.1016/j.jclinepi.2025.111729 The PROPHET project paves the way for personalized prevention in the future healthcare . Kroese, M. et al. European Journal of Cancer Protection. 33(5):p 387-389, September 2024. https://doi.org/10.1097/cej.0000000000000873 High-fidelity synthetic patient data applications and privacy considerations. Myles, P., Mitchell, C. , Redrup Hill, E. , Foschini, L., Wang, Z.. Journal of Data Protection & Privacy, Vol. 6, 4 (2024) https://doi.org/10.69554/LQOM5698 Biomarkers for personalised prevention of chronic diseases: a common protocol for three rapid scoping reviews. Syst Rev 13, 147 (2024). Plans-Beriso, E., Babb de Villiers, C. , Petrova, D. Turner, H. , Blackburn, L. et al. https://doi.org/10.1186/ A genomic perspective on climate change. EBioMedicine 98:104871. 2023. Forzano, F., Babb de Villiers C ., Farley M., Fowler H., Taylor R.W. doi: 10.1016/j.ebiom.2023.10487 The ethical challenges of diversifying genomic data: A qualitative evidence synthesis. Elizabeth Redrup Hill et al. Cambridge University Press. 2023 September. https://doi.org/10.1017/pcm.2023.20 Ethical and legal implications of implementing risk algorithms for early detection and screening for oesophageal cancer, now and in the future. Tanya Brigden , Colin Mitchell , Elizabeth Redrup Hill and Alison Hall . PLOS ONE. 2023 October. https://doi.org/10.1371/journal.pone.0293576 Ethical and legal considerations influencing human involvement in the implementation of artificial intelligence in a clinical pathway: A multi-stakeholder perspective. Elizabeth Redrup Hill , Colin Mitchell , Tanya Brigden and Alison Hall . Frontiers in Digital Health. 2023 March. https://doi.org/10.3389/fdgth.2023.1139210 Public Preferences for Determining Eligibility for Screening in Risk-Stratified Cancer Screening Programs: A Discrete Choice Experiment . Dennison RA, Taylor LC, Morris S, Boscott RA, Harrison H, Moorthie SA, Rossi SH, Stewart GD, Usher-Smith JA. Med Decis Making. 2023 Feb 14:272989X231155790. doi: 10.1177/0272989X231155790. Online ahead of printProactive breast cancer risk assessment in primary care: a review based on the principles of screening. Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC.A Scoping Review of Approaches to Improving Quality of Data Relating to Health Inequalities. Moorthie S, Peacey V, Evans S, Phillips V, Roman-Urrestarazu A, Brayne C, Lafortune L.Secondary Use of Personal Health Data: When Is It “Further Processing” Under the GDPR, and What Are the Implications for Data Controllers? Hall, A ., Mitchell, C ., Molnár-Gábor, F., Nicolàs, P., Tervo, S. and Thorogood, A., 2022. European Journal of Health Law , 1 (aop), pp.1-29.Lessons from the pandemic for the future regulation of confidential patient information for research Colin Mitchell and Alison Hall. Journal of the Royal Society of Medicine. 2023;0(0).Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service Laura Blackburn et al. [version 2; peer review: 2 approved]. NIHR Open Res 2022, 2:10Rapid systematic review to identify key barriers to access, linkage, and use of local authority administrative data for population health research, practice, and policy in the United Kingdom. 10.1186/s12889-022-13187-9 .Applying GDPR roles and responsibilities to scientific data sharing Colin Mitchell , Alison Hall , International Data Privacy Law , Volume 12, Issue 3, August 2022, Pages 207–219A community jury study exploring the public acceptability of using risk stratification to determine eligibility for cancer screening. Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention Babb de Villiers C , Burton H , Kroese M, Antoniou A.C., Bhattacharjee P, Garcia-Closas M, Hall P, Schmidt M.K.. Preventive Medicine, Vol 159. 6 May 2022.Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors Pharoah P , Rhiem K, Spranger T, Stoppa-Lyonnet D, van Delden J.J.M., van den Bulcke M, Woopen C. Breast Care. April 2022.How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests? Hall A , Babb de Villiers C , Janus J, Brigden T , Blackburn L , Kroese M. Future Medicine. 15 March 2022.COVID-19 Research: Navigating the European General Data Protection Regulation , Ordish J. Journal of Medical Internet Research Vol 22. No 8 (2020). 27 August 2020Understanding polygenic models, their development and the potential application of polygenic scores in healthcare Babb de Villiers C , Kroese M, Moorthie S. Journal of Medical Genetics Online First. 6 May 2020.Congenital disorders: epidemiological methods for answering calls for action An overview of concepts and approaches used in estimating the burden of congenital disorders globally Methods to estimate access to care and the effect of interventions on the outcomes of congenital disorders Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide Genetic database software as medical devices Hall A , Knoppers B .AI for health: Is there a regulatory gap? Rare single gene disorders: estimating baseline prevalence and outcomes worldwide A response to the forensic genetics policy initiative’s report “Establishing Best Practice for Forensic DNA Databases” Hall A , Forzano F, Prainsack B.R isk stratification, genomic data and the law Hall A , Finnegan T, Susmita C et al.Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure. A Hall et al.Risk stratification, genomic data and the law. Hall A , Finnegan T, Chowdhury S, Dent T, Kroese M, Burton H .Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis An overview of concepts and approaches used in estimating the burden of congenital disorders globally Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwide. Genomic medicine and data sharing Hall A .Exploring the potential duty of care in clinical genomics under UK law Hall A , Wallace S, Fay M, Goodwin D, Bell J, Phillips S, Taylor J.C, Hennekam R, Kaye J.Lacerda, EM. Nacul, L. Pheby, D. Shepherd, C. Spencer, P. Exploring the feasibility of establishing a disease-specific post-mortem tissue bank in the UK: a case study in ME/CFS Journal of Clinical Pathology . 2010; Crawford G, Fenwick A, Foulds N, Hallowell N, Lucassen A . Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not Journal of Medical Genetics . 2013 Nov;15(11):896-9 Griffiths S, Hallowell N, Yeung Leung T, Yi H. Motivations for Undertaking a DNA Sequencing-Based Non-Invasive Prenatal Testing for Fetal Aneuploidy: Qualitative Study with Early Adopter Patients in Hong Kong PLOS One . 2013 Nov 27 Preconception Healthcare and Congenital Disorders: Systematic Review of the Effectiveness of Preconception Care Programs in the Prevention of Congenital Disorders What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer? Hall A , Pashayan N, Pharoah P .Big data or bust – realising the microbial genomics revolution Preconception Healthcare Delivery at a Population Level: Construction of Public Health Models of Preconception Care Ethical issues and best practice in clinically based genomic research: Exeter Stakeholders Meeting Report Hall A , Walker G.Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units Responsible implementation of expanded carrier screening Hall A .Systematic Review and Meta-analysis of the Birth Prevalence of Orofacial Clefts in Low and Middle Income Countries Association of Vasomotor and Other Menopausal Symptoms with Risk of Cardiovascular Disease: A systematic Review and Meta-Analysis Known unknowns: building an ethics of uncertainty into genomic medicine Hall A , Leonard S, Newson A.Implications of using whole genome sequencing to test unselected populations for high risk breast cancer genes: a modelling study Burton H , Pharoah P .Preparing clinicians for genomic medicine Burton H , Slade I.Pathogen genomics into practice: from promising research to real health impact Moving pathogen genomics out of the lab and into the clinic: what will it take? Realising the promise of non-invasive prenatal testing Cost Effectiveness of Using Array-CGH for Diagnosing Learning Disability Mohammed S , Barton G, Kroese M et al.Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening Hall A .Considerations in establishing a post-mortem brain and tissue bank for the study of myalgic encephalomyelitis/chronic fatigue syndrome: a proposed protocol Hall A , Lacerda E, Nacul L, O’Donovan D, Pheby D.Personalized medicine: what’s in a name? Burton H , Hall A , Kroese M, Pokorska-Bocci A, Sagoo G, Stewart A.Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases Burton H .The impact of genetics on public health practice Burton H , Jackson C.Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented accountability for reasonableness Beyond public health genomics: proposals from an international working group Burton H , Cambon-Thomsen A, Cornel MC, Gray M, Jani A, Knoppers BM , Khoury MJ, Meslin EM , Van Dijn CM, Villari P, Zimmern R , Cesario A, Puggina A, Colotto M, Ricciardi W.Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues Hall A , Hallowell N, Zimmern R .Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol From the lab to the maternity ward: how genetics can beat birth defects A Toolkit to assess health needs for congenital disorders in low- and middle-income countries: an instrument for public health action Burton H , Darlison MW, Grollman C, Hall A , Modell B, Moorthie S, Sagoo G, .Bahl R, Lawn J, Wall S. Newborn health research priorities beyond 2015 The Lancet . 2014 July 12;384(9938):e27-e29. Preconception healthcare and congenital disorders: Systematic Review of the effectiveness of preconception care programs in the prevention of congenital disorders Personalised medicine in the UK: challenges of implementation and impact on healthcare system Burton H , Hall A , Kroese M, Pokorska-Bocci A, Sagoo G.What ethical and legal principles should guide the genotyping of children as part of a personalised screening programme for common cancer? Burton H , Chowdhury S, Hall A , Pashayan N, Pharoah P .Issues concerning the evaluation and regulation of predictive genetic testing Zimmern R .Familial Hypercholesterolaemia: a pressing issue for European health care Aitman T , Brice P, Burton H , Edwards C, Humphries S.Recommendations for returning genomic incidental findings? We need to talk! Knoppers B , Matheny A, Press N, Ross L, Rothstein M, Saal H, Uhlmann W, Wilfond B, Wolf S, Zimmern R .Public health genomics and personalised prevention: lessons from the COGS project Burton H , Chowdhury S, Dent T, Hall A , Pashayan N, Pharoah P .Policy challenges of clinical genome sequencing Burton H , Cunningham F, Firth H, Hurst J, Middleton A, Wright C.Life insurance: genomic stratification and risk classification Burton H , Chowdhury S, Dent T, Feze I, Foulkes W, Hall A , Hamet P, Joly Y, Kirwan N, Knoppers B , Macdonald A, Pashayan N, Simard J, Van Hoyweghen I.Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil Burton H , Chowdhury S, Sagoo G, Nacul L.Implementing risk-stratified screening for common cancers: a review of potential ethical, legal and social issues Burton H , Chowdhury S, Dent T, Hall A , Pashayan N, Pharoah P .Systematic review of birth prevalence of neural tube defects in India Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations Zimmern R .Finnegan, Tom. Harvey, Kate. Jagadesham, Varsha. Joynson, Catherine. Mills, Peter. Perkins, Carol. Riley, Laura. Svenning Berg, Ranveig. Walker-Robson, Sarah. White, Johanna. Whittall, Hugh. Wright, Katharine.. Review of the Nuffield Council on Bioethics Report: Novel Techniques for the prevention of mitochondrial DNA disorders: an ethical review Genomics , Society and Policy 8:29-31 (2013) Preconception health care and congenital disorders: mathematical modelling of the impact of a preconception care programme on congenital disorders Alsop K, Bowtell D, Crook A, Gleeson M, Hallowell N, Mitchell G, Plunkett L. The responses of research participants and their next of kin to receiving feedback of genetic test results following participation in the Australian Ovarian Cancer Study Genetics in Medicine . 2013; 15:458-465 Public health implications from COGS and potential for risk stratification and screening Burton H , Chowdhury S, Dent T, Hall A , Pashayan N, Pharoah P .Informatics and clinical genome sequencing: opening the black box Hall A , Wright C.Incorporating genomics into breast and prostate cancer screening: assessing the implications Burton H , Chowdhury S, Dent T, Hall A , Hall P, Lyratzopoulos G, Pashayan N, Pharoah P .The use of a toolkit for health needs assessment on neural tube defects in Argentina Stratified cancer screening: the practicalities of implementation. Burton H , Chowdhury S, Dent T, Eccles D, Eeles R, Hall A , Jbilou J, Lyratzopoulos G, Pashayan N, Pharoah P, Rafi I, Segnan N, T.Next-generation sequencing in the clinic: are we ready? Zimmern R .Non-invasive prenatal diagnostic test accuracy for fetal sex using cell-free DNA a review and meta-analysis The impact of genomics on public health practice: the case for change Zimmern R .Bellingan L, Bellingham J, Sutherland W. A collaboratively-derived science-policy research agenda PLoS One . 2012;7(3):e31824 Brayne C, Dent T, Janssens A, Stephan B, Wright C. Risk Prediction Models: a framework for assessment Public Health Genomics . 2012; 15(2):98-105 Zenner D. Predictive power of Koplik’s spots for the diagnosis of measles Journal of Infection in Developing Countries . 2, 2012; 6(3):271-275 The impact of whole genome sequencing on the NHS and population healthPokorska-Bocci A. End of the Beginning and Public Health Pharmacogenomics: Knowledge in ‘Mode 2’ and P5 Medicine1 Burton H , Dove E, Fisher E, Masellis M, Ozdemir V, Warnich L, Wright C.Genomics and individuals in public health practice: are we luddites or can we meet the challenge? Zimmern R .Review of Massively Parallel DNA sequencing technologies Inherited cardiomyopathies Burton H , Raju H, Sagoo G.Personalised Medicine: Lessons from Birth Defects and Single Gene Disorders Burton H , Sanderson S.Dent T, Greenhalgh T, Mathur R, Meads C, Noble D. Risk models and scores for type 2 diabetes: systematic review British Medical Journal . 2011;343:d7163 Dent T. Educating about risk scores in primary care Education for Primary Care . 2011; 22: 291-292 Pashayan N, Pharoah P . Translating genomics into improved population screening – hype or hope? Human Genetics . 2011; doi:10.1007/s00439-011-0985-x Campion P, Drachler M, Fayyaz S, Howe A, Leite J, Molokhia M, Poland F. Prevalence of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) in three regions of England: a repeated cross-sectional study in primary care BMC Medicine . 2011, 9:91 (28 July 2011) 