Clinical genetics and genetic counselling
‘The process by which individuals or relatives at risk for a disorder that may be hereditary are advised of the consequences of the disorder, the probability of transmitting it and the ways in which this may be prevented, avoided or ameliorated.’1
Clinical geneticists are doctors with a wide and varied training in medicine and its sub-specialties whose special expertise is in the identification and diagnosis of inherited disorders. Inevitably, these skills lend themselves to the assessment of the child with multiple birth defects but clinical geneticists see patients of all ages and comprising all manner of clinical presentations.
When families come to the genetics clinic, they usually have a number of questions, which may be summarized as follows:
• What is the diagnosis?
• Why did it happen?
• Will it happen again?
• If so, what can be done to ameliorate or prevent it?
The main role of the clinical geneticist is to establish an accurate genetic diagnosis, which is essential in order to:
• Gain an understanding of the condition and possible prognosis.
• Guide optimal management for the child.
• Identify other systems that need surveillance, e.g. hearing or vision.
·Address concerns about events during pregnancy or delivery.
• Enable accurate genetic advice for parents and other family members about the risk of recurrence in future pregnancies.
A basic principle of genetic counselling is that advice is non-directive.