The British Heart Foundation‘s Chief Executive, Simon Gillespie, has recently become a 100,000 Genomes Project participant as a result of his inherited, and unexplained, high cholesterol. He has been speaking about his motivation and expectations this week.
Simon (left) during his initial consultation at Guy’s Hospital, where he was recruited to the Project by Professor Anthony Wierzbicki (not pictured) – image from BHF
Video by the British Heart Foundation
Our Chief Scientist, Professor Mark Caulfield, is a cardiovascular genomics researcher and co-director of the William Harvey Research Institute who has received funding from the BHF for much of his career. He knows better than most that the huge medical potential of the project is matched only by the scale of the task at hand.
The sequencing facility reads through each of the 3.2 billion letters that make up your genome. We read through it looking at the different parts of the genome to see if you carry susceptibility to the disorder that you’ve been enrolled against. Reading through that very carefully we can find answers for around a quarter of the participants in the 100,000 genomes project.
The potential of genomics is endless, leading to more precise diagnostics for earlier diagnosis, new medical devices, faster clinical trials, new drugs and treatments and potentially, in time, new cures. But a more immediate impact will be a long-awaited diagnosis for some participants, enabling their clinicians to make more informed decisions about patient care.
As Professor Caulfield explains:
We get a comprehensive picture of your or my genetic code and that gives us the best chance of getting answers for patients.
Rare cardiovascular conditions are among over 200 disorders that are currently included in the 100,000 Genomes Project. If you have a rare disease or cancer in your family and are interested in taking part, you can find more information here.
With thanks to Simon Gillespie and the BHF.