Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Viviene Parry, "Everything is design. Everything!" - Paul Rand


Published on

Vivienne Parry OBE, Head of Engagement at Genomics England on the advances in research presentation at "Everything is design. Everything!" - Paul Rand event.

Published in: Healthcare
  • Be the first to comment

  • Be the first to like this

Viviene Parry, "Everything is design. Everything!" - Paul Rand

  1. 1. The 100,000 Genomes Project in a nutshell
  2. 2. What’s a genome?
  3. 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. 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. 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. 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. 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. 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. 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. 10. More information • Animation on how our data is used • Video on ‘what’s genomics’ • Genomics England website • Vivienne Parry