1. Exceptional healthcare, personally delivered http://www.nbt.nhs.uk/genetics Next Generation Technology Developments and Applications: Now and Potential across Healthcare Eileen Roberts Thalia Antoniadi

2. Exceptional healthcare, personally delivered http://www.nbt.nhs.uk/genetics 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

3. Exceptional healthcare, personally delivered http://www.nbt.nhs.uk/genetics From research to clinical practice

4. Exceptional healthcare, personally delivered Applications http://www.nbt.nhs.uk/genetics Gene Panels Exome Whole Genome Gene Expression Gene Regulation Rapid Pathogen identification Stratified Medicine Cancer genome studies Non Invasive Prenatal Diagnosis Single Gene

5. Exceptional healthcare, personally delivered Example: Familial hypercholesterolaemia (FH) http://www.nbt.nhs.uk/genetics  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

6. Exceptional healthcare, personally delivered http://www.nbt.nhs.uk/genetics 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

7. Exceptional healthcare, personally delivered for discussion http://www.nbt.nhs.uk/genetics  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