A technology breakthrough that started in Cambridge has brought us to where we are able to decode the entire DNA sequence and determine mutations that cause rare genetic diseases and cancer. With all 100,000 genomes now sequenced, Dr David Bentley, Chief Scientist at Illumina, and Professor Mark Caulfield, Chief Scientist at Genomics England, discuss how the 100,000 Genome Project will revolutionise the way we practise medicine.

Dr David Bentley FMedSci
David is Vice President and Chief Scientist at Illumina Inc. and graduated with an M.A. in Natural Sciences from Cambridge and a D.Phil from Oxford. During his career he has been a Senior Lecturer at London University; and later the Head of Human Genetics and a founder member of the Board of Management at the Sanger Centre. David has played a leading role in the Human Genome Project and related international consortia to characterise human sequence variation, including The SNP Consortium and the HapMap Project. His long-term interest is the study of human sequence variation and its impact on human health and disease. His current research is focussed on fast, accurate sequencing of human genomes for adoption and benefit in healthcare, with early applications including rare genetic disease and cancer. These applications are exemplified in the goals of the 100,000 genomes project, a partnership that includes Illumina, Genomics England and the National Health Service.

Professor Mark Caulfield
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 which has discovered over 1000 gene loci for blood pressure and clinical research. He served on the NICE Guideline Group for hypertension and was President of the British Hypertension Society (2009-2011).

He was appointed Director of the William Harvey Research Institute in 2002 and was elected a Fellow of the Academy of Medical Sciences in 2008. He led on fundraising towards the £25m William Harvey Heart Centre which created a translational clinical research centre. Since 2008 he directs the National Institute for Health Research Cardiovascular Biomedical Research Unit and Centre at Barts. Between 2010 and 2015 he co-led the merger of three hospitals in North London to create the new £400 million Barts Heart Centre which provides 80,000 cardiovascular patient episodes.

He has won the Lily Prize of the British Pharmacology Society, the Bjorn Folkow Award of the European Society of Hypertension 2016 and the Franz Volhard Award of the International Society of Hypertension in 2018.

In 2013 he became an NIHR Senior Investigator and was appointed as the Chief Scientist for Genomics England (100,000 Genomes Project) 2013-ongoing.

David Bentley & Mark Caulfield - 100,000 Genomes Project Transforming Precision Healthcare

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David Bentley & Mark Caulfield - 100,000 Genomes Project Transforming Precision Healthcare

University of Cambridge