Dr Catherine Mercer and Dr Frank Ratcliff - The 100,000 Genome Project - Jan 2017 - Cafe Scientifique Isle of Wight
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The 100,000 Genomes Project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer. Significantly, this is currently the largest national sequencing project of its kind in the world. This talk explores the project, and ask the question; “Would you have your genome sequenced?”
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Dr Catherine Mercer and Dr Frank Ratcliff - The 100,000 Genome Project - Jan 2017 - Cafe Scientifique Isle of Wight
- 1. The Genomic Revolution and the 100,000 Genomes Project: Would you have your genome sequenced? Catherine Mercer, Consultant Clinical Geneticist, UHS Frank Ratcliff PhD, Project Manager, Wessex AHSN
- 6. How many genes in the human genome?
- 7. 20,000, the same as a starfish How many genes in the human genome?
- 8. …but ¼ the number of an onion
- 11. Genetic Testing
- 12. Genomic Analysis
- 13. Faster rates of diagnosis
- 14. December 2012 100,000 Genomes Project announced
- 17. Exeter Imperial College Queen Mary University London St George’s University Wessex Genome Medicine Centre
- 18. Rare Disease
- 20. Scale of the problem; Rare Diseases • 5-8000 different known rare disease • 7% of population • 80% of these are inherited = 120,000 people in Hampshire and Dorset.
- 24. What are we telling participants?
- 25. What are participants telling us? Musa’s Story John’s Story
- 26. Jessica’s Story 4 years old Symptoms of epilepsy; seizures Multiple investigations; MRI lumbar puncture rising doses of anti-epileptic medication Patient at Great Ormond Street, North Thames Genomic Medicine Centre
- 28. Small blood sample from Jessica AND from her parents. All 3 whole genomes sequenced.
- 29. Jessica’s 3,000,000,000 base pairs compared to the ‘standard’ 3,000,000,000 base pairs. 6,400,000 differences 700,000 of those were ‘rare’ 3000 would affect a protein 67 were NOT shared with her parents 1 was previously linked to symptoms like Jessica’s
- 30. Glut1 Deficiency Syndrome Deletion in 1 copy of Glucose Transporter gene. Symptoms caused by lack of glucose to the brain. Only 500 cases globally Can be helped by a low-carbohydrate (ketogenic) diet- alternative energy source. The ketogenic diet will be carefully tailored for any individual patient, and should only be used under the care of medical professionals.
- 31. Jessica had a very positive outcome. Genetic change not shared with parents; no additional risk to future siblings. For some families participating in the Project we won’t be able to clearly identify the cause of disease right away.
- 32. Case Studies
- 33. Would you have your genome sequenced?
- 34. Would you have your genome sequenced?
- 35. Would you have your genome sequenced?
- 36. Would you have your genome sequenced? Do you want to know your risk of disease? Do you just want reassurance? Would share the information with your family? How? Are you concerned about insurance implications? Would a genetic diagnosis change your self perception? Might having your genome sequenced cause anxiety? Would you do this to forward science / benefit others? Are you hoping to find out about your lineage? Would you action lifestyle changes based on genome sequencing results?
- 37. Questions? If you think you may be eligible to join the project please get in touch; 0800 3898221 genomicsrd@uhs.nhs.uk (rare disease) or genomicsc@uhs.nhs.uk (cancer)