The Genomic Medicine Service contributes to the diagnosis, medical management and support of people with rare genetic conditions and their family members.
The best time for a patient to be referred to clinical genetics is after genetic testing has taken place. We can then interpret test results in the context of a patient’s medical problems and family history, to confirm whether the patient has a rare genetic diagnosis.
After diagnosis, we provide personalised information and advice on long-term medical needs, treatment options, support organisations and research. We will explain whether other family members are at risk of the condition, and discuss family planning options including availability of prenatal testing.
We also receive referrals for asymptomatic family members who may be at-risk of a rare genetic condition. We can provide information and support on predictive testing and management options.
Information on eligibility for genetic testing can be found in the National Genomic Test Directory (opens in a new tab) and resources for organising genetic testing can be found on our Genomic Tests pages here.
Types of genetic conditions that we focus on
- Rare childhood-onset conditions (developmental disorders) involving combinations of congenital abnormalities, multi-system illness, developmental delay / intellectual disabilities or other unusual, severe and early-onset problems.
- Rare neurological conditions such as early-onset epilepsies, neuromuscular diseases and inherited neurodegenerative diseases
- Rare conditions associated with severe cardiac, endocrine, eye or kidney disease
- Inherited cancer susceptibility syndromes associated with rare tumours, early age of presentation or other associated characteristics