Clinical scientists working in genomics analyse and interpret patient samples in order to identify alterations in genes and to help predict whether other family members or future generations are at risk from the abnormality. The results of analyses are used by clinicians to inform diagnosis, to develop treatment programmes and also to work out a prognosis.

There are three main categories:

• prenatal diagnosis - examining cells for possible abnormalities in the foetus, usually where single gene disorders have been identified. Examples include cystic fibrosis and Huntington's disease.
• carrier testing - to identify patients who may be at risk from single gene disorders
• confirmation of diagnosis