BURN, John

Professor, Newcastle University, Human Variome Project

Non-executive director of NHS England 

Professor Sir John Burn MD FRCP FRCPE FRCPCH FRCOG FMedSci

Sir Burn was born and trained in medicine in North East England. He returned there in 1984 as its first consultant in clinical genetics and went on to become the professor of Clinical Genetics at Newcastle University in 1991.  After 30 years as the leader of a highly successful NHS service and Human Genetics research institute he now combines his clinical and teaching role with being chief investigator of CAPP, the international Cancer Prevention programme, genetics lead for the UK National Institute of Health Research, medical director of the medical device company, QuantuMDx ltd., and co-chair of the Scientific Advisory Board of the Human Variome Project. In 2014, he was appointed as a Non-Executive Director of NHS England.

With his wife of 40 years, Linda, he has two children and four grandchildren and his favourite pastime is playing the drums.  He was knighted by Queen Elizabeth II in 2010 for services medicine and healthcare.

 

ABSTRACT

14:30-16:00 5 NOVEMBER
Plenary session III. Confidence in science

Genomics: Global challenges and opportunities

The euphoria associated with the end of the Iron Curtain 25 years ago contrasts with the anxieties which are causing European borders to close again.  As we celebrate the ability to analyse and interpret the genetic makeup of all organisms, including ourselves we must also anticipate the risks. At an existential level the new technique of gene editing, CRISPR/Cas9, threatens an explosion of risky human interventions already being seen with wild claims around stem cell therapy. The Human Genome Project spanned 15 years while Genomics England will soon be issuing results into England’s NHS at an average of 15 minutes per genome.  Potential adverse social effects of disease prediction are well rehearsed.  The challenge of understanding the millions of variants in each person is more pressing.  The BRCA Challenge of the Global Alliance for Genomics and Health is creating a single curated database of all variants in BRCA1& 2 as an exemplar of what should become a global resource which can allow reliable interpretation in all countries and share understanding across all ethnic groups.  The Global Globin Challenge 2020 of the Human Variome Project is beginning the same process for the genes in which pathogenic variants cause misery for millions across Africa and Asia.  Variants in beta globin became common through natural selection to develop a human defence against malaria.  This and other pathogens like tuberculosis are themselves evolving in response to ineffective use of antibiotics.  Genomics offers the tools to rapidly understand and counter these resistant organisms.  Point of care DNA analysis is rapidly becoming feasible in the poorest settings, allowing pathogen recognition,  more effective targeting of antibiotics and avoidance of adverse effects of medication. If and when successful, these developments will bring benefits which make facing the challenges worthwhile.