viviene parry, "everything is design. everything!" - paul rand
TRANSCRIPT
The 100,000 Genomes Projectin a nutshell
What’s a genome?
What’s made the 100,000 Genomes Project possible?
• Cost of one genome in 2000• Around £2 billion (and 13 years and 10,000 scientists)
Cost of one genome in 2015?• Around £600 (and 24 hours and 1 scientist)• 16 genomes in 2.7 days
And what’s genomics?
• Using the whole genome to predict, diagnose and treat illness• All the technologies associated with it such as bioinformatics• Using genomic diagnostics which will lead to personalised
medicine• No longer the preserve of genetics departments
Genomics England, with the consent of participants, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes
100,000 Genomes Project
• Clinical service, major research project & NHS transformation in one• Focusing on cancer, rare disease and infection• Based on consent• Sequencing 100,000 genomes from about 75,000 people by 2017• Linking phenotypic, lifetime medical record data and genome data• Highly controlled access to dataset for researchers including industry• Delivered by Genomics England, wholly owned DH company• Genomics England Clinical Interpretation Partnership•
What will we be telling participants?
• Information about their main condition
• Information about 10 ‘serious and actionable’ conditions (optional)
• Carrier status for non affected parents of children with rare disease (optional)
• No risk information (eg 10% additional risk of hypertension)
• No other findings (eg non paternity)
Many ethical issues
• Data privacy• Data security• Insurance• Feedback• Use of data by commercial companies
• Earning and maintaining the trust of the public is essential
The future
Five babies; five different treatments
KCNJ11 p.V59MPermanent diabetes and
developmental delay
FOXP3 c.227delTIPEX syndrome
EIF2AK3 p.E371*Wolcott Rallison
Syndrome
Bone Marrow Transplant
Liver Transplant
Sulphonylureatherapy
STAT3 p.T716MMulti-organ autoimmune
disease
GATA6 c.1448-1455delSyndromic pancreatic
agenesis
Insulin and exocrine supplements
? STAT3 inhibitor
Genomic diagnosis guides clinical management in neonatal diabetes
More information• Animation on how our data is used http://bit.ly/100KGPdata
• Video on ‘what’s genomics’ http://www.genomicseducation.hee.nhs.uk/resources/videos
• Genomics England website www.genomicsengland.co.uk
• Vivienne Parry [email protected]