Genome sequencing continues to become quicker and cheaper with every passing week. This means that for the first time in the 25 years since work began to sequence the first human genome, receiving a diagnosis through sequencing is a reality for families and the NHS must take advantage of the clinical benefits that will arise in parallel. This report explores the experience of families who have received a diagnosis via genome sequencing.

The report makes recommendations in a number of areas:

On 4 May 2016, the report was launched at an event in parliament, and the then minister in charge of rare diseases, George Freeman MP, received the report.