Whole genome analysis is a potentially transformative technology for the diagnosis and care of patients with rare inherited diseases. It is also likely to be highly valuable in the delivery of personalised cancer medicine. However, delivery of clinically useful results from whole genome data poses a number of challenges that must be met before the benefits of the technologies can be realised.

This short briefing note explains the process of clinical whole genome sequencing, highlighting the challenges to delivering reliable and useful results and the potential risks to patients and the health service if these challenges are not overcome. It also sets out key steps needed to ensure successful clinical implementation of genomic analysis.

It is the first in a series of briefing notes that will explore, from a public policy perspective, the opportunities and challenges presented by the introduction of genomic analysis into health services in the UK.