When to Refer a Family for Genetic Counselling

There is an increasing awareness amongst the population of the part that genetics plays in the pathogenesis of disease. Families wish to know whether a particular condition is likely to be inherited, and if so, what the risks are to family members. They also wish to discuss the options which are available.

The family may therefore ask for "genetic counselling". Some aspects of genetics are well established, and the information may best be passed on to the family by the doctor under whose primary care they are (for instance, the risks for Down syndrome associated with increasing maternal age). For other disorders, colleagues may not have access to the latest information (especially regarding molecular diagnostic techniques), or the genetics may be complicated. This chapter explains how the Clinical Genetics Service may be able to help.

Common Reasons for Seeking Referral to a Genetic Clinic

• Investigation and diagnosis of a possible genetic disease.
• Genetic counselling requested after the diagnosis of a genetic disease.
• Strong family history of cancer.
• Interpretation of abnormal prenatal diagnostic results.
• Family history of chromosomal translocation.
• Testing family members for carrier status for single gene (mendelian) disorders.
• Diagnosis of mental handicap, especially if there is a family history of several boys affected.
• Diagnosis of a syndrome in a child with multiple malformations or dysmorphic features.
• Presymptomatic diagnosis, prenatal diagnosis, or gene tracking by DNA tests is available.
• Organisation of specialised prenatal diagnosis.
• Cousin marriage.

This page was last modified on Fri Feb 12 2010