Publications
We produce a range of publications for different audiences engaged with policy making. All our publications are free to access.
2025
2024
2023
- Heat, health and human genetics
- Human involvement in AI-driven digital pathology pathways: ethical and legal considerations
- Workshop report on adopting a risk tool for stratification and predictive prevention of oesophageal cancer
- Are synthetic health data ‘personal data’?
- Evaluation of polygenic score applications
2022
2021
- Control of patient information in the COVID-19 era
- Implementing polygenic scores for cardiovascular disease into NHS Health Checks
- The ethical and legal framework for a Genomics England and Sano Genetics participant engagement platform
- Polygenic scores and clinical utility
- Visual identifiers in the care of people with dementia
2020
- Citizen generated data and health: predictive prevention of disease
- Personalising breast cancer prevention – bridging the gap between research and policy
- The GDPR and genomic data
- Artificial intelligence for genomic medicine
- Black box medicine and transparency
2019
- Our healthy future – a series of reports incl.
- Algorithms as medical devices
- Regulating algorithms in healthcare: the GDPR and IVDR in practice
- Polygenic scores, risk and cardiovascular disease
- Personalising prevention for breast cancer
- Dementia risk prediction
2018
- The personalised medicine technology landscape
- Genomics in mainstream clinical pathways
- Identification and genomic data
2017
- Personalised prevention in breast cancer – the policy landscape
- Developing effective ctDNA testing services for lung cancer
- Linking and sharing routine health data for research
- Variant classification and interpretation – workshop report
- Whole exome sequencing in clinical genetics – a health economic evaluation
- Personalised healthcare: bringing the future into focus
- Delivering improved access to genetic testing in epithelial ovarian cancer
2016
2015
- Data sharing to support UK clinical genetics and genomics services
- Pathogen genomics into practice
- Genetic screening programmes: an international review of assessment criteria
2014
- Realising genomics in clinical practice
- A guide to the investigation of intellectual disability and developmental delay in East Anglia
- Enhanced Genetic Services Project
- Stratified screening for cancer
2013
- Realising genomics in clinical practice (interim report)
- Managing incidental and pertinent findings from WGS in the 100,000 Genomes Project
- Genomics of obesity
2012
2011
- Epidemiology, risk and causation
- Next steps in the sequence
- Quality standards in risk prediction
- Genetics and mainstream medicine: service development and integration
2010
- Public health in an era of genome-based and personalised medicine
- Expanded newborn screening
- Independent response to House of Lords Science and Technology Committee Genomic Medicine report
- Predicting the risk of coronary heart disease with conventional, genetic and novel molecular biomarkers
2009
- Tay Sachs Disease carrier screening in the Ashkenazi Jewish population
- Heart to Heart: inherited cardiovascular conditions services
- Cell-free fetal nucleic acids for non-invasive prenatal diagnosis
2008
- Evidence and evaluation: Building public trust in genetic tests for common diseases
- Genetic ophthalmology in focus
- The evaluation of diagnostic laboratory tests and complex biomarkers
2007
- The evaluation of clinical validity and clinical utility of genetic tests
- Family history as a risk factor for common, complex disease
- Moving beyond ACCE: An expanded framework for genetic test evaluation
2006
- Assessment of the Human Tissue Act
- Evaluation of array-CGH for chromosomal abnormalities in clinical practice
- Learning disability: the interface with genetics
- Biomarkers in familial colorectal cancer screening
- Ethical legal and social issues in stem cell research and therapy – 2nd edition
2005
2004
2003
2001
2000
2025
2024
- Infection and autoimmune disease
- Pathomics, genomics and AI in cancer care
- Regulating Advanced Therapy Medicinal Products in the UK after Brexit
- Electrogenetics – a new avenue in precision medicine
- The federation of trusted research environments for genomics and health
- DNA as data storage
2023
- Optical genome mapping
- Non-coding variants and transcripts for rare disease diagnostics
- Unpacking polygenic scores – a series of policy briefings incl:
- The European Health Data Space
- Host genomics for better infectious disease treatment
2022
- Gene editing animals for organ transplants to humans
- Long-read sequencing: Clinical applications and implementation
- Clinical long-read sequencing
- Precision medicine for inflammatory bowel disease
- Data intermediaries for health
- CAR-T cell therapies
2021
- Phage therapy to treat AMR infections
- Antisense oligonucleotide therapies
- Age-related macular degeneration and genomics
2020
- Functional genomics
- Functional genomics in clinical medicine
- Unpicking the impact of the GDPR on genomic data
- Putting AI to work in genomic medicine
- Black box medicine and transparency
2019
- Somatic genome editing: ethics and regulation
- Somatic genome editing: promise and practicalities
- Citizen generated data – an opportunity for public health?
- Somatic genome editing: an overview
- Citizen generated data: the ethics of remote patient monitoring
- What is an algorithm?
2018
- What is long read sequencing?
- RNA vaccines: an introduction
- Long read sequencing: Ready for the clinic?
- Legal liability for machine learning in healthcare
- What is citizen generated data?
- What is the GDPR?
- What is the IVDR?
2017
- Linking and sharing routine health data for research in England
- ctDNA technology in lung cancer: personalised healthcare in action
2016
- Circulating tumour DNA technology: the future of cancer management?
- Delivering an effective infectious disease genomics service
2015
- Protecting patients from healthcare associated infections: a role for genomics
- Genomics for infection control: meeting local and national needs
- Phenotyping patients for genomic diagnostics
- One health genomics – why animal diseases matter for human health
2014
- Genomics and the management of antimicrobial resistance: current successes and future challenges
- Array CGH testing for learning disability- when is it worth it?
- Sharing clinical genomic data for better diagnostics
- Leading the way: driving the delivery of pathogen genomics into practice
- Setting the right standards for clinical genome analysis
- The impact of genomic sequencing technologies on patient pathways
- Defining the role of a bioinformatician
- Beating the bugs: the pathogen genomics revolution
- Genomics and the boundary between research and clinical care and treatment
- The genomic contribution to diabetes
- Clinical whole genome analysis: delivering the right diagnosis
- ELSI and the implemention of WGS/WES in clinical practice
2024
- The 10 year health plan for England
December 2024, NHS England
2022
- Digital transformation in the NHS
June 2022, House of Commons Health and Social Care Committee - Department of Health and Social Care – 10-Year Cancer Plan
April 2022, Department of Health and Social Care - The right to privacy: digital data
January 2022, House of Commons Science and Technology Select Committee
2021
- MHRA Regulation
November 2021, Medicines and Healthcare products Regulatory Agency (MHRA) - Department for Digital, Culture, Media & Sport: Data Protection
November 2021, Department for Digital, Culture, Media and Sport - Nuffield Council of Bioethics consultation – Future of ageing
August 2021, Nuffield Council of Bioethics - MHRA patient and Public Involvement Strategy 2020-25
June 2021, Medicines and Healthcare products Regulatory Agency (MHRA)
2020
- Developing global standards for governance and oversight of human genome editing
August 2020, WHO Advisory Committee on Developing Global Standards for Governance and Oversight of Human Genome Editing - Public consultation about the Caldicott Principles and Caldicott Guardians
August 2020, National Data Guardian for Health and Social Care - Response to the EU Commission on a legislative framework for the governance of common European Data Spaces
July 2020, European Union Commission - Project Explain
January 2020, Information Commissioner’s Office
2019
- Advancing our Health: Prevention in the 2020s
October 2019, Department of Health and Social Care - Commercial genomics inquiry
April 2019, House of Commons Science and Technology Select Committee - Review of national cancer screening programmes in England
April 2019, NHS England - National Data Guardian consultation on priorities
March 2019, National Data Guardian for Health and Social Care - Review of the General Medical council consent guidance
January 2019, General Medical Council - Stakeholders consultation on draft AI Ethics Guidelines
January 2019, EU High Level Expert Group on Artificial Intelligence
2018
- Preparing the healthcare workforce to deliver the digital future
September 2018, Health Education England - Developing the long term plan for the NHS
September 2018, NHS England - Consultation on the Centre for Data Ethics and Innovation
September 2018, Department for Digital, Culture, Media and Sport
2017
- Inquiry on using algorithms for decision-making
October 2017, House of Commons Science and Technology Committee - Inquiry on genomics and gene editing in the NHS
October 2017, House of Commons Science and Technology Committee - Inquiry on Artificial Intelligence: evidence
September 2017, House of Lords Select Committee on Artificial Intelligence - Inquiry on Life Sciences and the Industrial Strategy
September 2017, House of Lords Science and Technology Committee - Genome editing open call for evidence – updated response
June 2017, Nuffield Council on Bioethics - Profiling and automated decision-making under GDPR
May 2017, Information Commissioner’s Office - Inquiry into genomics and gene editing
January 2017, House of Commons Science and Technology Committee - Implementation of the rare diseases strategy
January 2017, APPG for Rare, Genetic and Undiagnosed Conditions
2016
- National Data Guardian for health and care’s review of data security, consent and opt-outs
September 2016, Department of Health - The long-term sustainability of the NHS
September 2016, House of Lords Select Committee on the Long-Term Sustainability of the NHS - Call for views and evidence on non-invasive prenatal testing
July 2016, Nuffield Council on Bioethics - Nuffield Council on Bioethics – Genome Editing Open Call for Evidence
January 2016, Nuffield Council on Bioethics - Accelerated Access Review – interim report
January 2016, Accelerated Access Review
2015
- The Big Data Dilemma Inquiry
September 2015, The Science and Technology Committee - Genetic laboratory service redesign
April 2015, NHS England - Nurse review of research councils
April 2015, Department for Business - Investing in specialised services
April 2015, NHS England
2014
- Eurogentest guidelines
December 2014, Eurogentest - Legislation to encourage medical innovation in healthcare
April 2014, Department of Health - Expanded bloodspot screening
March 2014, National Screening Committee - The linking and use of biological and health data
January 2014, Nuffield Council of Bioethics
2013
- Public Health England: Knowledge Strategy
November 2013, Public Health England - Comments on Incidental Findings from the Presidential Commission for the Study of Bioethical Issues
July 2013, Presidential Commission for the Study of Bioethical Issues - Tabled amendments to draft EU regulations on in vitro diagnostic medical devices (IVDDR)
June 2013, European Commission
2012
- The benefits and harms of breast cancer screening
October 2012, Department of Health
2011
- Innovation Review
August 2011, Department of Health - Emerging Biotechnologies
June 2011, Nuffield Council on Bioethics - Healthy Lives, Healthy People
March 2011, Department of Health
2010
- Liberating the NHS consultation
October 2010, Department of Health - Call for evidence on the current data protection legislative framework
October 2010, Ministry of Justice - Revision of Directive 98/79 of the European Parliament and of the Council of 27 October 1998 on In Vitro Diagnostic Medical Devices
June 2010, European Commission - Request for Information on the NIH plan to develop the Genetics Testing Registry (GTR)
June 2010, National Institutes of Health (NIH)
2009
- A Common Framework of Principles for direct-to-consumer genetic testing services
December 2009, Human Genetics Commission - Medical profiling and online medicine: The ethics of ‘personalised’ healthcare in a consumer age
July 2009, Nuffield Council on Bioethics - The framework for the registration of health and adult social care providers and on the draft regulations
May 2009, Department of Health - Regulations to implement the Human Fertilisation and Embryology Act 2008
May 2009, Department of Health
2008
- Consultation on Secondary Uses of Patient Information
May 2009, NHS Connecting for Health - Revised Codes of Practice to the Human Tissue Act
November 2008, Human Tissue Authority - Cell-free fetal DNA for non-invasive prenatal diagnosis
October 2008, House of Lords Science and Technology Committee - Genomic Medicine
April 2008, House of Lords Science and Technology Committee - Consultation on Confidentiality Guidance
February 2008, General Medical Council - NHS Constitution
February 2008, NHS - The amendments to the draft charter for bereaved people
February 2008, Ministry of Justice - Consent in Research
February 2008, General Medical Council - Good Practice Guide in Paternity Testing Services
February 2008, Department of Health - Code of Practice for Genetic Tests
February 2008, Association of British Insurers - Data Sharing Review
February 2008, Ministry of Justice
2007
- Review of the Declaration of Helsinki: Ethical principles for biomedical research involving human beings
November 2007, World Medical Association - Challenges and priorities for the next five years
October 2007, Medicine and Healthcare Products Regulatory Agency - Guidance on nominating a consultee for research involving adults who lack capacity to consent
September 2007, Department of Health
A complete list of our published academic papers can be found on the journal papers page or you can view on their respective author pages.