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Next Generation Technology Developments and Applications: Now and Potential across Healthcare

Next Generation Technology Developments and Applications: Now and Potential across Healthcare. Eileen Roberts Thalia Antoniadi. The changing landscape.

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Next Generation Technology Developments and Applications: Now and Potential across Healthcare

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

  2. 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 • 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 • 1990s: ~13 years to sequence the human genome ($2.7 billion) • Today: ~26 hrs (<£10K; working towards the $1,000 genome) http://www.nbt.nhs.uk/genetics

  3. From research to clinical practice http://www.nbt.nhs.uk/genetics

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

  5. 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 http://www.nbt.nhs.uk/genetics

  6. Example: Familial hypercholesterolaemia (FH) Current Strategy • One comprehensive test • Expanded screening • Higher diagnostic yield • Myostatin sensitivity detected • Lower cost • Fast TAT • High throughput LDLR Sequencing 38 % LDLR MLPA 3 % NGS Strategy LDLR PCSK9 APOB SCLOB1 SNP report PCSK9 APOB exon 26 < 1 % report http://www.nbt.nhs.uk/genetics

  7. 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 http://www.nbt.nhs.uk/genetics

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