Our theme for the Forum’s Christmas Get Together was Let’s Celebrate.
Debbie Beirne, Leeds Clinical Research Facility Manager has been actively involved in the 100,000 Genome Project on behalf of Leeds Teaching Hospitals Trust.
She told Forum members that the Project has reached its goal of sequencing 100,000 whole genomes.
Genomes – complete DNA sequences – stored by the NHS now include those of patients with a rare disease or cancer.
By comparing the genomes from lots of people, Genomics England – the organisation overseeing the project – will get a better understanding of diseases, how they develop, and which treatment may provide the greatest help to patients.
Debbie said we were leading the world in this field – the UK is the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality anonymised clinical and genomic data for research aimed at improving patient outcomes.
When the project was launched in 2012, Debbie said critics claimed it was an impossible task, but now we all can celebrate this achievement which will help uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer.