Developments in whole genome sequencing technologies have catalysed incredible progress in the diagnosis of rare disease and the discovery of novel disease-associated genes. However, large-scale sequencing of population cohorts has revealed that many healthy individuals carry the same disease-causing variants as patients. The extent of this incomplete penetrance in individuals not ascertained on the basis of a family history or clinical diagnosis is neither well understood nor widely appreciated. In this talk, Professor Caroline Wright, Professor of Genomic Medicine at the Department of Clinical and Biomedical Sciences at the University of Exeter, outlines recent research into penetrance of different diseases across different populations, and discusses the broader implications of these findings for genomic screening. This is the 2024 Dr Stanley Ho Memorial Lecture, in collaboration with the Oxford Martin School, and it took place on 29 May 2024.

Developments in whole genome sequencing technologies have catalysed incredible progress in the diagnosis of rare disease and the discovery of novel disease-associated genes. However, large-scale sequencing of population cohorts has revealed that many healthy individuals carry the same disease-causing variants as patients. The extent of this incomplete penetrance in individuals not ascertained on the basis of a family history or clinical diagnosis is neither well understood nor widely appreciated. In this talk, Professor Caroline Wright, Professor of Genomic Medicine at the Department of Clinical and Biomedical Sciences at the University of Exeter, outlines recent research into penetrance of different diseases across different populations, and discusses the broader implications of these findings for genomic screening. This is the 2024 Dr Stanley Ho Memorial Lecture, in collaboration with the Oxford Martin School, and it took place on 29 May 2024.

Professor Mary Dixon Woods gave the 2023 CPM Annual Lecture on 27th April 2023. This event took place at the Sheldonian Theatre, Oxford. Mary Dixon-Woods is Director of THIS Institute and The Health Foundation Professor of Healthcare Improvement Studies in the Department of Public Health and Primary Care at the University of Cambridge. She is a fellow of the Academy of Social Sciences and the Academy of Medical Sciences, an honorary fellow of the Royal College of Physicians, the Royal College of General Practitioners, and the Royal College of Obstetricians and Gynaecologists. A Professorial Fellow at Homerton College, Cambridge, Mary is also an NIHR Senior Investigator. Mary served on England’s National Advisory Group on the Safety of Patients in England, which produced the Berwick report in 2013. She also served on the review of information technology in the NHS led by Professor Bob Wachter, which reported in 2016. She was a Wellcome Trust Senior Investigator 2012-2019. Mary was the Harveian Orator for the Royal College of Physicians in 2018, the 500th anniversary of the College’s founding. She is a member of the BMJ’s international advisory board. Research Interests Mary’s programme of research is concerned with generating a high quality evidence-base to support improvement in the organisation, quality and safety of healthcare. Characteristically using mixed-methods approaches, her work focuses on evaluation of quality and safety improvement interventions and programmes, culture and behaviour in health systems, and regulation and governance of health research and care. She has a special interest in methodological innovation in the study of healthcare improvement.

Professor Mary Dixon Woods gave the 2023 CPM Annual Lecture on 27th April 2023. This event took place at the Sheldonian Theatre, Oxford. Mary Dixon-Woods is Director of THIS Institute and The Health Foundation Professor of Healthcare Improvement Studies in the Department of Public Health and Primary Care at the University of Cambridge. She is a fellow of the Academy of Social Sciences and the Academy of Medical Sciences, an honorary fellow of the Royal College of Physicians, the Royal College of General Practitioners, and the Royal College of Obstetricians and Gynaecologists. A Professorial Fellow at Homerton College, Cambridge, Mary is also an NIHR Senior Investigator. Mary served on England’s National Advisory Group on the Safety of Patients in England, which produced the Berwick report in 2013. She also served on the review of information technology in the NHS led by Professor Bob Wachter, which reported in 2016. She was a Wellcome Trust Senior Investigator 2012-2019. Mary was the Harveian Orator for the Royal College of Physicians in 2018, the 500th anniversary of the College’s founding. She is a member of the BMJ’s international advisory board. Research Interests Mary’s programme of research is concerned with generating a high quality evidence-base to support improvement in the organisation, quality and safety of healthcare. Characteristically using mixed-methods approaches, her work focuses on evaluation of quality and safety improvement interventions and programmes, culture and behaviour in health systems, and regulation and governance of health research and care. She has a special interest in methodological innovation in the study of healthcare improvement.

Professor Sir John Burn gave the 2024 CPM Annual Lecture at the Sheldonian Theatre, Oxford on Tuesday 26th March. Professor Sir John Burn obtained a first class honours degree in human genetics and an MD with distinction from Newcastle University, where he has been Professor of Clinical Genetics since 1991. He was appointed as a consultant specialist in Newcastle in 1984 and led the regional NHS Genetics Service for 20 years. He helped to create the Millennium Landmark Centre for Life, which houses an education, and science centre alongside NHS regional genetics and fertility services and University research. He is chair of the Newcastle based DNA device company QuantuMDx Ltd. He was knighted in 2010 and chosen as one of the first 20 ‘local heroes’ to have a brass plaque on Newcastle Quayside in 2014. He is a Trustee of the European Hereditary Tumour Group, UNESCO NGO Global Variome and HUGO (the Human Genome Organisation) London. He is Vice President of HUGO international. Former roles include founding Chair the UK Cancer Genetics Group (1997-2003) and of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT 2003-5), President of the European Society of Human Genetics (2006-2007), Chair of the British Society for Genetic Medicine (2011-2013), Lead Clinician, Northern Strategic Health Authority (2010-2014), Non-executive Director NHS England (2014-2018) and Chair of Newcastle Hospitals (2017 -2023). He leads the Cancer Prevention Programme research group at Newcastle University; CAPP2, an RCT in 16 countries, showed that aspirin reduces by half the risk of colorectal cancer in Lynch syndrome (Burn et al Lancet 2020) and resistant starch supplements reduce the risk of other LS cancers by more than half (Mathers et al Cancer Prev Research 2022).

Professor Sir John Burn gave the 2024 CPM Annual Lecture at the Sheldonian Theatre, Oxford on Tuesday 26th March. Professor Sir John Burn obtained a first class honours degree in human genetics and an MD with distinction from Newcastle University, where he has been Professor of Clinical Genetics since 1991. He was appointed as a consultant specialist in Newcastle in 1984 and led the regional NHS Genetics Service for 20 years. He helped to create the Millennium Landmark Centre for Life, which houses an education, and science centre alongside NHS regional genetics and fertility services and University research. He is chair of the Newcastle based DNA device company QuantuMDx Ltd. He was knighted in 2010 and chosen as one of the first 20 ‘local heroes’ to have a brass plaque on Newcastle Quayside in 2014. He is a Trustee of the European Hereditary Tumour Group, UNESCO NGO Global Variome and HUGO (the Human Genome Organisation) London. He is Vice President of HUGO international. Former roles include founding Chair the UK Cancer Genetics Group (1997-2003) and of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT 2003-5), President of the European Society of Human Genetics (2006-2007), Chair of the British Society for Genetic Medicine (2011-2013), Lead Clinician, Northern Strategic Health Authority (2010-2014), Non-executive Director NHS England (2014-2018) and Chair of Newcastle Hospitals (2017 -2023). He leads the Cancer Prevention Programme research group at Newcastle University; CAPP2, an RCT in 16 countries, showed that aspirin reduces by half the risk of colorectal cancer in Lynch syndrome (Burn et al Lancet 2020) and resistant starch supplements reduce the risk of other LS cancers by more than half (Mathers et al Cancer Prev Research 2022).

Professor Andrew Hattersley gave the 2022 CPM Annual Lecture on Thursday 26th May. This event took place at the Sheldonian Theatre. Professor Andrew Hattersley is the Professor of Molecular Medicine at the University of Exeter, UK and a practicing consultant diabetologist at the Royal Devon and Exeter hospital. He trained in Medicine at the Universities of Cambridge and Oxford. His postgraduate education was in London, Oxford and Birmingham. Working with Professor Sian Ellard he has taken Exeter from being a centre with no genetics laboratory in 1995 to now being the top international laboratory for monogenic diabetes with over 20,000 referrals from 105 countries. They have discovered 25 genes which when mutated cause monogenic diabetes. Importantly he has gone on from gene discovery to find the best treatment for monogenic diabetes. He has shown that the commonest forms of both familial genetic diabetes and neonatal diabetes can be treated with tablets instead of insulin resulting in better blood sugar control. Recent work has focused on “Precision Diabetes” identifying subgroups in Type 1 and Type 2 diabetes with different treatment responses. He has published over 600 papers with over 90,000 citations, given over 350 national and international lecturers and received many international and national awards for his work including being appointed as a fellow of The Royal Society and being awarded a CBE.

Professor Andrew Hattersley gave the 2022 CPM Annual Lecture on Thursday 26th May. This event took place at the Sheldonian Theatre. Professor Andrew Hattersley is the Professor of Molecular Medicine at the University of Exeter, UK and a practicing consultant diabetologist at the Royal Devon and Exeter hospital. He trained in Medicine at the Universities of Cambridge and Oxford. His postgraduate education was in London, Oxford and Birmingham. Working with Professor Sian Ellard he has taken Exeter from being a centre with no genetics laboratory in 1995 to now being the top international laboratory for monogenic diabetes with over 20,000 referrals from 105 countries. They have discovered 25 genes which when mutated cause monogenic diabetes. Importantly he has gone on from gene discovery to find the best treatment for monogenic diabetes. He has shown that the commonest forms of both familial genetic diabetes and neonatal diabetes can be treated with tablets instead of insulin resulting in better blood sugar control. Recent work has focused on “Precision Diabetes” identifying subgroups in Type 1 and Type 2 diabetes with different treatment responses. He has published over 600 papers with over 90,000 citations, given over 350 national and international lecturers and received many international and national awards for his work including being appointed as a fellow of The Royal Society and being awarded a CBE.