Vivienne Parry OBE, Head of Engagement at Genomics England on the advances in research presentation at "Everything is design. Everything!" - Paul Rand event.
3. 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
4. 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
5. 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
6. 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
•
7. 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)
8. 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
9. The future
Five babies; five different treatments
KCNJ11 p.V59M
Permanent diabetes and
developmental delay
FOXP3 c.227delT
IPEX syndrome
EIF2AK3 p.E371*
Wolcott Rallison
Syndrome
Bone Marrow
Transplant
Liver
Transplant
Sulphonylurea
therapy
STAT3 p.T716M
Multi-organ
autoimmune
disease
GATA6 c.1448-1455del
Syndromic pancreatic
agenesis
Insulin and exocrine
supplements
? STAT3
inhibitor
Genomic diagnosis guides clinical
management in neonatal diabetes
10. 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 vivienne.parry@genomicsengland.co.uk