Exceptional healthcare, personally delivered Next Generation Technology Developments and Applications: Now and Potential across Healthcare Eileen Roberts Thalia Antoniadi

Exceptional healthcare, personally delivered The changing landscape  Advances in technology are altering the landscape of medical care as they are constantly improving our capability to understand diseases, make diagnoses and provide effective management  1990s: ~13 years to sequence the human genome ($2.7 billion)  Today: ~26 hrs (<£10K; working towards the $1,000 genome)  Next Generation Sequencing: massively parallel DNA sequencing methods that combine hardware and software tools to permit high-throughput sequence analysis of large regions of DNA derived from biologic materials such as human tissue, bacteria, or pathogens  Next Generation Sequencing: massively parallel DNA sequencing methods that combine hardware and software tools to permit high-throughput sequence analysis of large regions of DNA derived from biologic materials such as human tissue, bacteria, or pathogens

Exceptional healthcare, personally delivered From research to clinical practice

Exceptional healthcare, personally delivered Applications Gene Panels Exome Whole Genome Gene Expression Gene Regulation Rapid Pathogen identification Stratified Medicine Cancer genome studies Non Invasive Prenatal Diagnosis Single Gene

Exceptional healthcare, personally delivered Example: Familial hypercholesterolaemia (FH)  high cholesterol concentration in the blood  caused by mutations in genes of the pathway that clears low-density lipoprotein (LDL) from the bloodstream  autosomal dominant with high prevalence: UK estimated 1 in 500; 120,000 people affected  accounts for 12% of all myocardial infarctions (MI) under the age of 60  without treatment affected individuals have a 50% chance of MI or cardiovascular disease (CVD) death before the age of 60; but a normal life expectancy if identified early and treated  treatment is highly cost effective (diet & generic statins <£10 per month)  NICE Clinical guideline 71: Proactive cascade family screening to be undertaken using cholesterol measurement combined with genetic testing  Commissioning to date remains patchy across the UK

Exceptional healthcare, personally delivered Example: Familial hypercholesterolaemia (FH) Current Strategy LDLR Sequencing 38 % PCSK9 APOB exon 26 < 1 % report LDLR MLPA 3 %  One comprehensive test  Expanded screening  Higher diagnostic yield  Myostatin sensitivity detected  Lower cost  Fast TAT  High throughput NGS Strategy LDLR PCSK9 APOB SCLOB1 SNP report

Exceptional healthcare, personally delivered for discussion  Can you see opportunities for the use of similar technology in your discipline  What other applications of new technology can you think of in your discipline  What would it take to get there  How do we influence commissioners at a local level  How do we ensure rapid diffusion of innovation  How do we influence the patient pathway and the funding flows  How can we support and learn from each other’s experience