Genetics and Arrhythmias: Beyond Mendel's Peas-Practical Use For the UK 100,000 Genomes (Presenter: Elijah Behr, MA, MBBS, MD)

Practical Use For the UK 100,000 Genomes (Presenter: Elijah Behr, MA, MBBS, MD)

Video Transcription

Video Summary

Dr. Elijah Baer from St. George's in London discusses the practical use of the UK 100,000 Genomes Project. The project was initiated by former UK Prime Minister David Cameron, who was motivated by his son's rare genetic epilepsy syndrome. The project aims to benefit NHS patients, enable research, and kickstart genomic industry development in the UK. The majority of participants have been rare disease patients, with over 122,000 samples and 106,000 genomes sequenced. Actionable results have been provided for the majority of patients, particularly in the area of cancer. The project is a collaboration between Genomics England and the GSIP, the research arm. The clinical data is collected through NHS genomic medicine centers. The results are then passed on to clinicians for patient feedback and family support. The project has helped address inequality in access to genetic testing and has led to the creation of a national laboratory network and a national genomics medicine service in the UK. The goal is to have 5 million genomes sequenced in the next five years.

Meta Tag

Lecture ID 6688

Location Room 203

Presenter Elijah Behr, MA, MBBS, MD

Role Invited Speaker

Session Date and Time May 09, 2019 10:30 AM - 12:00 PM

Session Number S-013

Keywords

UK 100,000 Genomes Project

genomic industry development

rare disease patients

actionable results

national genomics medicine service