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