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

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

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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 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

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