exceptional healthcare, personally delivered next generation technology developments and...

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

Next Generation Technology Developments and Applications:

Now and Potential across Healthcare

Eileen RobertsThalia Antoniadi


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 sequencingmethods 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


From research to clinical practice

Exceptional healthcare, personally delivered

Applications

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

Gene Panels Exome Whole

Genome

Gene Expression

Gene Regulation

RapidPathogen

identification

Stratified MedicineCancer genome studies

Non Invasive Prenatal

Diagnosis

Single Gene


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


Example: Familial hypercholesterolaemia (FH)

Current Strategy

LDLRSequencing

38 %

PCSK9 APOB exon 26

< 1 %

report

LDLR MLPA3 %

One comprehensive test Expanded screening

Higher diagnostic yield Myostatin sensitivity

detected Lower cost Fast TAT High throughput

NGS Strategy

LDLRPCSK9APOB

SCLOB1 SNP

report


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

exceptional healthcare, personally delivered next generation technology developments and...

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