Genomics England Clinical Interpretation Partnership (GeCIP) Board

The Genomics England Clinical Interpretation Partnership (GeCIP) consists of 42 groups or ‘domains’, overseen by the GeCIP Board.
Each domain covers a different disease or topic in the project. The groups are responsible for interpreting the data to improve clinical care, and also undertake complementary research, including medical, computational and social research.

The GeCIP Board oversees the operation of GeCIP and includes representatives from GeCIP funders and the GeCIP domains. Up to three places on the GeCIP Board are reserved for the representatives of the Participant Panel and they contribute and vote as any other member of the GeCIP Board. The individual Participant Panel representatives are free to rotate attendance at the GeCIP Board according to their availability.

Professor Dame Kay Davies is the Dr Lee’s Professor of Anatomy and Associate Head, Development, Impact and Equality, Medical Sciences Division, University of Oxford. Her research interests cover the molecular analysis of neuromuscular and neurological disease, particular Duchenne muscular dystrophy (DMD). She has an active interest in the ethical implications of genetics research and the public understanding of science.

She has considerable experience of biotechnology companies as a conduit for translating the results of experimental science into new therapeutics and diagnostics. She is a founding editor of “Human Molecular Genetics” and a founding fellow of the UK Academy of Medical Sciences. She is a Fellow of the Royal Society and a Member of the European Molecular Biology Organization (HUGO). She has been a Governor of the Wellcome Trust since 2008 and became Deputy Chairman in October 2013. She was made Dame Commander of the British Empire for services to science in 2008.

Professor Dame Sue Hill DBE PhD DSc CBiol FSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for England and the head of profession for the 50,000 healthcare science workforce in the NHS and associated bodies – embracing more than 50 separate scientific specialisms. She is a respiratory scientist by background with an international academic and clinical research reputation.
Professor Hill has a broad portfolio of policy responsibilities across NHS England and the wider NHS and provides professional leadership and expert clinical advice across the whole health and care system. In particular, Sue is the Senior Responsible Officer for Genomics in NHS England has established NHS Genomic Medicine Centres and is now leading the NHS England Personalised Medicine strategy.
A significant part of her role involves working across government, with the Department of Health & Social Care, with the NHS, Public Health and Health Education England and other external stakeholders to inform policy, influence legislation, deliver strategic change and to introduce new and innovative ways of working.

Mark is seconded from the UK Department of Health & Social Care and helps to co-ordinate the various partnerships within the 100,000 Genomes Project. This includes the GeCIP domains, the MRC-funded work in Scotland, Wales, and Northern Ireland, and links with other international partners.

He oversees the running of key Boards and committees, including the GeCIP Board, Steering Group and the Access Review Committee.

He also supports wider strategic links with UK Department of Health & Social Care and other Government organisations, including the National Genomics Board.

Colin is the Cross-cutting GeCIP representative on the GeCIP Board. He is professor of cancer genetics and associate dean of research at the University of East Anglia. He currently jointly runs the Cancer Research UK ICGC (International Cancer Genome Consortium) Prostate Cancer Project aimed at collecting whole genome DNA Sequence data from prostate cancers. He also jointly runs the multidisciplinary Pan Prostate Cancer Group that is co-ordinating analysis of whole genome data from this disease worldwide, with partners from the UK, Canada, Finland, France, USA, China and Australia. He has a particular interest in the identification of microorganisms from human whole genome DNA sequence data and heads a cross-cutting GeCIP domain that plans to correlate the presence of infectious agents with human disease.

Colin’s main research interest, through the above and other projects, is the development of methods for distinguishing aggressive from non-aggressive prostate cancer. This includes the development of a urine biomarker as part of a Movember GAP1 project and the application of new mathematical approaches to existing datasets.

Henry is the Rare disease GeCIP domain representative on the GeCIP Board. He is a senior lecturer and consultant neurologist at University College London and the National Hospital Neurology and Neurosurgery.

His laboratory works on the genetics of neurodegeneration, peripheral nerve disease, ataxias and paroxysmal movement disorders. He also has an interest in neurorehabilitation. His research group is carrying out a programme of genetic and pathological investigations into human neurodegeneration. They have recently identified two ataxia genes and are working on a number of disease genes in ataxia, peripheral neuropathy, Parkinson’s disease and dementia. These genetic and neuropathological studies integrating functional in vitro research will translate this research into disease-modifying treatment for human diseases.

He is the deputy lead PI of the Synaptopathies Initiative and aims to understand mono- and polygenic inheritance with a focus on paroxysmal dyskinesias, episodic ataxias and overlap syndromes with epilepsy and migraine.

Michael Parker is Professor of Bioethics and Director of the Ethox Centre at the University of Oxford. His main research interest is in the ethics of collaborative global health research. Together with partners at the Wellcome Trust Major Overseas Programmes (MOPs) in Vietnam, Malawi, Thailand, Laos, Kenya, and South Africa he co-ordinates the Global Health Bioethics Network, which is a programme to encourage and promote ethical reflection, carry out ethics research, and build ethics capacity across the MOPs. Michael also leads the ethics programme of the Malaria Genomic Epidemiology Network (MalariaGEN), which carries out genomic research into severe malaria in childhood at 24 sites in 21 countries.

Michael’s other main research interest is in the ethical aspects of the clinical use of genetics. Since 2001, with Anneke Lucassen, Tara Clancy, and Angus Clarke he has co-ordinated the Genethics Club, a national ethics forum for health professionals and genetics laboratory staff in the United Kingdom to discuss the ethical issues arising in their day-to-day practice and to share good practice. This work has been published as Ethical Problems and Genetics Practice (Cambridge University Press, 2012).

Michael is head of genetics and molecular science at the Wellcome Trust. Having obtained a PhD in biochemistry at the University of Cambridge, he went on to work on the genetics of type 1 diabetes at the Wellcome Trust Centre for Human Genetics in Oxford and the Cambridge Institute for Medical Research.

Michael joined the Wellcome Trust in 2000. His previous role was to manage and develop its scientific portfolio and community of investigators to enable the Trust to achieve its mission. Michael also led development of the Trust’s Strategic Challenge of ‘Maximising the Health Benefits of Genetics and Genomics’.

Nathan completed his PhD at the MRC London Institute of Medical Sciences, studying gene regulation and fat/cholesterol transport. After a number of years as a post-doctoral researcher, Nathan joined MRC Head Office in 2004.

After working in a number of scientific areas, in 2009 he took over as head of Molecular and Cellular Medicine. Responsibilities include managing MRC’s investments and strategy development across a broad area of biomedical research, including biological mechanisms or technologies relevant to understanding the aetiology of human diseases and developing treatments.

Through the Molecular and Cellular Medicine Board, Nathan is responsible for many of MRC’s major Institute and Unit strategic investments and contributing to the development and delivery of MRC strategy under UK Research and Innovation.

Maria completed her PhD in Montreal, Canada and then moved to the UK where she joined first Alan Ashworth’s laboratory at the Institute of Cancer Research for 5 years where she worked on telomerase and DNA damage using high-throughput si- and sh-RNA screens and then moved to Charlie Swanton’s laboratory at University College London, where she was involved in several genomics and high-throughput screening projects in breast cancer. Maria joined Cancer Research UK (CRUK) in 2016 as senior project manager in the Precision Medicine team. Her role was to liaise between Genomics England and CRUK and help develop new relationships and collaborations between them. In November 2017, she was appointed as portfolio manager in the Precision Medicine team and her role now is to set up, manage, develop and coordinate the precision medicine initiatives funded by CRUK and to help the precision medicine community to develop and deliver new large-scale genome-based initiatives that will help achieve CRUK’s vision of 3 in 4 cancer patients cured by 2034.

Tom joined the Scottish Government’s Chief Scientist Office in mid-2014 as senior research manager with responsibilities including public health, health services, biobanking and health informatics research.  He has worked as a scientist in the civil service for almost 20 years, mostly for the Department of Health and in a number of policy areas that have included immunisation, emerging healthcare technologies, prion diseases and toxicology.  Before joining the civil service, he was a research scientist at the University of Edinburgh, the United States National Cancer Institute and the Medical Research Council Laboratory of Molecular Biology, Cambridge.

Jon completed his undergraduate degree in medicine at Southampton University.  He subsequently served in the British Army, commenced his psychiatric training and developed his interest in traumatic stress. He completed his training in Cardiff and is now a practising consultant psychiatrist with Cardiff and Vale University Health Board, professor in psychiatry at Cardiff University and Director of Health and Care Research Wales with the Welsh Government.

He developed and continues to lead Cardiff University’s Traumatic Stress Research Group and the Cardiff and Vale Traumatic Stress Service. He has a particular interest in developing and testing new interventions to prevent and treat post-traumatic stress disorder (PTSD) and currently chairs the International Society for Traumatic Stress Studies’ Treatment Guidelines Committee.

He instigated and led a comprehensive review of Welsh Government-funded health and social care research infrastructure and programmes in 2013 and 2014. This resulted in the development of restructuring proposals through an iterative and consultative process involving the public, experts external to Wales, industry, NHS, social care, third sector, universities and Welsh Government. The final proposals were implemented with the launch of Health and Care Research Wales and its new five-year strategic plan in May 2015.

Ian is currently chief scientific advisor to the Department of Health and Director of Research and Development for Health and Social Care. In addition, he is professor of medicine at Queen’s University Belfast, where he was also director of the Centre for Public Health from 2008–2014, and deputy medical director and consultant chemical pathologist at Belfast Health and Social Care Trust.  Ian’s main clinical and research interests are in biochemical aspects of nutrition, particularly in relation to the disease prevention. He is an author of over 350 published research papers and has obtained over £30 million in research income. He is chair of the Scientific Division of the International Federation for Clinical Chemistry and Laboratory Medicine, the world’s leading laboratory medicine organisation, and associate editor of Clinical Chemistry, the journal of the American Association for Clinical Chemistry. He is a member of the UK Scientific Advisory Committee on Nutrition, and the Scientific Advisory Board of the National Institute of Biological Standards and Controls.

Chrissie is a Senior Lecturer and Consultant in Medical Oncology at the Royal Free Hospital Neuroendocrine tumour (NET) Unit and University College London Cancer Institute. She is the NET GeCIP domain lead and was delighted to take on the role of the 100,000 Genomes Cancer arm representative on the GeCIP board in July 2018.

She is also Chair of the UK and Ireland Neuroendocrine Tumour Society (UKINETS) Research Committee, Scientific Board member of the NET Research Foundation  (USA), European Society of Medical Oncology (ESMO) NET faculty member and Undergraduate academic lead at the UCL Cancer Institute.

Chrissie has 15 years of experience working in cancer genomics. Her PhD in colorectal cancer genetics was funded by the Medical Research Council, following this she completed her Medical Oncology training while holding a National Institute of Health Research Clinical Lecturer post, until her appointment as Consultant in 2010.

Chrissie leads a research group at the UCL Cancer Institute and has a particular interest in integrated genomic and circulating free DNA analysis of neuroendocrine tumors and other cancers with the aim of identifying novel therapeutic targets and personalising therapy. To-date she has successfully identified sub-groups of NETs with poorer clinical outcomes, and has successfully isolated and sequenced DNA from circulating DNA and NET cells in the bloodstream (CTCs). She has delivered plenary lectures at UK, European and North American NET meetings, and received national and international prizes and awards for research undertaken by her team.

Leanne and her family entered the pilot study for the 100,000 Genomes Project in 2013. As a parent, she is seeking to establish and understand the form of rare disease that affects her child. Having lived with uncertainty about her child’s illness for years, she understands the importance that many participants and their families will place in the success of the 100,000 Genomes Project. Leanne is a long-standing member of the Participant Panel. As such, she is empowered to help ensure that participant interests are the focus of the GeCIP community, in its work to carry out research, and improve the understanding and practices of clinical genomics.

Alison has recently joined the GeCIP Board as a participant representative. She was recruited into the Rare Disease branch of the Project in 2016 due to an undiagnosed fault with her immune system. She holds a strong belief in linking patient voices and researchers as both have much to gain from this partnership, in particular the participants of the 100,000 Genomes Project who have donated their samples in the hopes of diagnosis, but also to advance understanding so that the NHS can offer a better outcome for those with rare diseases in the future.