Science Advisory Committee

Our independent Science Advisory Committee advises the Genomics England Board on scientific aspects of the 100,000 Genomes Project. This includes overseeing: disease inclusion criteria; Genomics England Clinical Interpretation Partnership (GeCIP) domain formation; data access request applications; and patient recruitment strategies. The Committee considers the interests of patients, the public, scientists and clinicians engaged in genomic research or genomic medicine.


Professor Sir John Bell is Regius Professor of Medicine at Oxford University, Chairman of the Office for the Strategic Coordination of Health Research and was President of the Academy of Medical Sciences from 2006 to 2011. In 2008, he was made a Fellow of the Royal Society and was appointed Knight Grand Cross of the Order of the British Empire (GBE) in the 2015 New Year Honours for services to medicine, medical research and the life science industry.

As a Rhodes Scholar (1975–1978), Sir John undertook his medical training at Oxford and then went on to Stanford University, returning to Oxford in 1987. His research interests are in the area of immunology and genetics, where he has contributed to the understanding of immune activation in a range of autoimmune diseases. In 1993, he founded the Wellcome Trust Centre for Human Genetics, one of the world’s leading centres for complex trait common disease genetics. Sir John was responsible for the working party that produced the highly influential Academy of Medical Sciences ‘Strengthening Clinical Research’ report that highlighted the need for the UK to focus some of its attention on developing expertise in translational research. In December 2011, Sir John was appointed one of two UK Life Sciences Champions by the Prime Minister.

Professor Bell is a non-executive director of Roche AG (since 2001) and of Genentech (since 2009).  He is a member of the Bill and Melinda Gates Foundation Scientific Advisory Committee.


Professor David Lomas is Vice Provost (Health), Head of UCL School of Life and Medical Sciences and Head of UCL Medical School. He is the Academic Director of the UCLPartners Academic Health Science Centre and a member of the Board at UCLH. Professor Lomas is an NIHR Senior Investigator and works as a respiratory physician at UCLH and the Royal Free Hospital. He is Chair of the Population and Systems Medicines Board at the Medical Research Council and previously chaired the Respiratory Therapy Area Unit Board at GlaxoSmithKline.

Professor Lomas received his medical degree from the University of Nottingham and undertook his PhD at Trinity College, Cambridge. He was an MRC Clinician Scientist, University Lecturer and Professor of Respiratory Biology in Cambridge before moving to UCL in 2013 to be Chair of Medicine and Dean of the Faculty of Medical Sciences until 2015.


Professor Tim Aitman is the Director of the Centre for Genomic and Experimental Medicine within the MRC Institute of Genetics and Molecular Medicine. He is a Professor of Molecular Pathology and Genetics at the University of Edinburgh, the Clinical Director of the HighSeqX facility in Edinburgh Genomics and Consultant Physician in NHS Lothian. Professor Aitman is the co-Director and Edinburgh PI of the Scottish Genomes Partnership, a nationally important collaboration with the NHS, and is also the Director of the Edinburgh-St Andrews Consortium for Molecular Pathology, Informatics and Genome Sciences, one of only six new MRC-EPSRC Molecular Pathology Nodes in the UK.

A graduate of the Birmingham Medical School and Kings College London, he obtained his DPhil at Wolfson College in Oxford University. Before joining the University of Edinburgh in April 2014, he was Group Head and Section Chair at the MRC Clinical Sciences Centre, Hammersmith Hospital in London, Honorary Consultant Physician at Hammersmith Hospitals NHS Trust and Professor of Clinical & Molecular Genetics in the Faculty of Medicine of Imperial College London (where he continues as Visiting Professor). Professor Aitman is a Fellow of the Royal College of Physicians, Academy of Medical Sciences and Society of Biology. He is also a Trustee of the Public Health Genomics (PHG) Foundation, a member of several external advisory boards (including the Sir Jules Thorn Medical Advisory Committee and the Wellcome Trust Expert Review Group on Genetics), and editorial board member of Mammalian Genome, Physiological Genomics, BMC Bioinformatics, BMC Medical Genomics and Human Molecular Genetics. He was the Specialist Adviser for the House of Lords Science and Technology Committee’s Inquiry into Genomic Medicine, and is currently a member of the Genomics Advisory Board of Health Education England.


Professor David Bick is the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. Professor Bick also serves as the Medical Director of the Smith Family Clinic for Genomic Medicine, LLC located on the campus of HudsonAlpha Institute for Biotechnology and as a laboratory director in the HudsonAlpha Clinical Services Laboratory, LLC.

He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology. At the Medical College of Wisconsin he was the Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin.

Professor Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital in New Haven, CT. At the Yale University School of Medicine, Dr Bick completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a post-doctoral research fellowship in Human Genetics in 1987. Professor Bick is board certified in paediatrics, clinical genetics, and clinical molecular genetics. He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Professor Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States.


James D. Brenton is a medical oncologist and senior group leader at the Cancer Research UK (CR-UK) Cambridge Institute, University of Cambridge. He leads the Functional Genomics of Ovarian Cancer Laboratory and is joint lead for the Cambridge Cancer Centre Ovarian Cancer programme. He trained in medical oncology at the Royal Marsden Hospital, Princess Margaret Hospital, Toronto and the Department of Oncology, University of Cambridge. His PhD work was carried out at the Wellcome Trust/Cancer Research UK Gurdon Institute of Cancer and Developmental Biology and he was a Cancer Research UK Senior Clinical Research Fellow from 2001–2006 at the Hutchison/MRC Research Centre. He was elected as a Fellow of the European Academy of Cancer Sciences in 2015.

His research focuses on the identification of predictive genomic biomarkers for therapy in ovarian cancer and identifying mechanisms of drug resistance. His group was the first to show that mutations in the TP53 gene are ubiquitous in the commonest form of ovarian cancer (high-grade serous ovarian carcinoma) and he has used this discovery to develop personalized circulating tumour DNA assays to measure treatment response in ovarian cance and to understand intratumoural heterogeneity in ovarian cancer.

He is a founding member of the international Ovarian Tumor Tissue Analysis (OTTA) Consortium and is a member of the SGCTG Protocol Review Committee and the CR-UK Clinical Fellows Mentor Panel. He is the Cancer lead for the East of England NHS Genomic Medicine Centre and the ovarian cancer domain for the Genomics England Clinical Interpretation Partnership.


Professor Sir John Burn has been a Consultant Clinical Geneticist in the Northern Genetics Service since 1984, and a Professor of Clinical Genetics since 1991 at Newcastle University with over 500 publications. He was knighted for services to Medicine and Healthcare in 2010. He is the Chief Investigator of CaPP, the international Cancer Prevention Programme, which has shown aspirin can prevent hereditary colorectal cancer. Professor Burn conceived and helped create the Millennium Landmark Centre for Life which houses an education and science centre alongside the Institute of Genetic Medicine and Northgene Ltd, the identity testing company he launched in 1995. He was former Chair of the British Society for Genetic Medicine, and of European Society of Human Genetics. He is a non-executive director at NHS England, and Chair to DNA device company, QuantuMDx.


Professor Mark Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew’s Hospital, where he developed a research programme in molecular genetics of hypertension and translational clinical research. In 2007, 2009 and 2011 his research was independently rated among the top ten scientific discoveries in his field. In 2009, he won the Lily Prize of the British Pharmacology Society. Since 2008, he has directed the Barts National Institute of Health Research Cardiovascular Biomedical Research Unit. He was appointed Director of the William Harvey Research Institute in 2002, was elected to the Academy of Medical Sciences in 2008, and was President of the British Hypertension Society (2009–2011). Professor Caulfield is an NHS consultant in the Barts Blood Pressure Clinic within the Barts/William Harvey European Society of Hypertension Centre of Excellence. He raised £25 million towards the William Harvey Heart Centre, which created a translational clinical research centre and was the academic leader that created the Barts Heart Centre, bringing three hospitals together at Barts in 2015 to create the UK’s largest heart centre (including UCLH Heart Hospital, the London Chest Hospital and Barts). He served on the 2011 NICE Guideline Group for hypertension and leads the Joint UK Societies’ Working Group and Consensus on Renal Denervation. In 2014, he became one of the top 200 most highly cited researchers in the world in genomics, according to Thomson Reuters.

In 2013, Professor Caulfield was appointed Chief Scientist for Genomics England, charged with delivery of the 100,000 Genomes Project. As Chief Scientist, he leads on all scientific activities for Genomics England. He engages with NHS scientific teams and the general public to promote, explain and enthuse about the 100,000 Genomes Project. Professor Caulfield also oversees the Clinical Interpretation Partnership.


Sir John is the Chair of Genomics England. He is a Cambridge graduate who started work in the automobile industry. His career took flight when he founded CAP Scientific Ltd, which grew rapidly to become a core part of the CAP Group plc and subsequently the Sema Group plc of which he was UK Managing Director.

He was then asked by the Government to take on the transformation of its defence research laboratories into a commercial organisation. In due course, these became an internationally successful technology services company and were floated on the LSE as QinetiQ Group plc of which Sir John became Chairman in 2006.

At the same time, he was asked to take the Chair of the Medical Research Council and in 2009, he also took the Chair of Nesta. Sir John retired from QinetiQ in February 2010.
Sir John is a past president of the IET and holds a number of honorary Doctorates and Fellowships, including the Royal Academy of Engineering. He was knighted in 1999.


Professor Sue Hill OBE PhD DSc CBiol FSB Hon FRCP Hon FRCPath is the Chief Scientific Officer for NHS 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, 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.


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Professor Anna Schuh is the Director of Molecular Diagnostics at the University of Oxford and an honorary consultant haematologist. She has participated as a principle or chief investigator in over 30 early- or late-phase clinical trials in chronic lymphocytic leukaemia. A number of these led to subsequent NICE approvals and have changed clinical practice in the UK and worldwide. As the Director of the Oxford NIHR Molecular Diagnostics Centre (MDC), she receives grants from the NIHR, Wellcome Trust, Technology Strategy Board and Bloodwise. Her primary research interest is with the development, evaluation and implementation of new technologies for precision diagnostics with a particular focus on genomics. She leads the Genomics England Clinical Interpretation Partnership for Haematological Malignancies on behalf of the NCRN clinical investigators and has authored or co-authored over 80 peer-reviewed publications in the last five years.


Professor Matt Seymour is a medical oncologist specialising in gastrointestinal tract cancer. After training at Cambridge, the London, Stoke-on-Trent, St Bart’s and the Royal Marsden hospitals, he moved to Leeds in 1995.

His personal research interests are improving outcomes and reducing adverse impacts during drug therapy for patients with GI tract cancer, through optimising treatment regimens, individualised treatment selection using molecular biomarkers, and introduction of novel therapies. He has led several national phase III clinical trials and the translational research arising from them. This includes translational studies to identify which patients do or do not benefit from specific cytotoxic drugs and anti-EGFR monoclonal antibodies.

Professor Seymour was the first regional Clinical Lead for the NCRN in Yorkshire, and is now the national Director of NCRN and Clinical Research Director for NCRI. In these roles he oversees the national portfolio of over 600 clinical cancer studies, with more than 50,000 participants each year. He is also joint founder of the International Rare Cancer Initiative (IRCI), promoting international cooperation to conduct research for rare cancers.


Professor Andrew Wilkie has been an Honorary Consultant in Clinical Genetics at the Oxford University Hospitals NHS Trust since 1993 and Nuffield Professor of Pathology at the University of Oxford since 2003. He is a Wellcome Trust Senior Clinical Research Fellow and Professor of Genetics at the University of Oxford.

His first important contributions were in the descriptions of the presentation and molecular basis of the alpha-thalassaemia/mental retardation syndromes. A clinical geneticist who studies genetic disorders affecting the skull and limbs, especially craniosynostosis — premature fusion of the sutures of the skull. He identified the gene mutation responsible for Apert syndrome and the molecular pathways underlying this and other craniosynostosis conditions. His findings have led to many clinical diagnostic tests.