The 100,000 Genomes Project

In 2012 the UK Prime Minister, David Cameron, announced plans for the 100,000 Genomes Project. This ambitious project will deliver the sequences of 100,000 genomes from NHS patients by the end of 2017, including patients with rare disease and cancer. Patients with unusual forms of diabetes likely to have a monogenic cause or ultra-rare disorders of unknown genetic cause can participate in the project by providing DNA samples for genome sequencing. Blood samples are also being stored for future analysis of RNA, proteins and metabolites to facilitate our understanding of rare monogenic forms of diabetes. This project provides an opportunity for patients like Jack, Dan and Tom with neonatal diabetes, MODY or a rare syndrome, but in whom no genetic diagnosis has yet been found. New causes of rare genetic diseases will be investigated using the strategies we learnt about earlier, for example by doing a trio analysis for an affected child and their unaffected parents.

Participants can decide if they want to find out about “additional findings” in their genome. These are genetic variants that are known to cause serious, life threatening conditions. These diseases can often be prevented or reduced by treatment. Examples include familial hypercholesterolaemia and inherited breast cancer caused by BRCA1 or BRCA2 mutations. Couples taking part, for example the parents of a child with a rare disease, can choose to find out if they are both carriers of recessive diseases such as cystic fibrosis.

You can find out more about the 100,000 Genomes Project by visiting the Genomics England website. You’ll find information for potential participants, videos about the project and participant stories, as well as short films introducing genomics and genome sequencing. One goal of the project is to accelerate the uptake of genomic medicine within the NHS. A genomics education programme for healthcare staff is being led by Health Education England who have developed many online resources that you’ll find on their website.