Genetic counselling

Health professionals should be aware that certain ethnic groups have an increased risk of genetic conditions. For example, at least one in 20 adults is a genetic carrier for a haemoglobin condition. The chance is higher for:

• Alpha thalassaemia, if their ancestry is from China and South East Asia, southern Europe, the Middle East, Indian subcontinent, Africa, the Pacific Islands and Maori.
• Beta thalassaemia, if their ancestry is from the Middle East, southern Europe, the Indian subcontinent, Central and South East Asia, and Africa.
• Sickle cell disease if their ancestry is from Africa, the Middle East, southern Europe, the Indian subcontinent, South America and the Caribbean.

Antenatal FBE screening can assist in identifying women who may be carriers, and partner testing may also be indicated. Genetic counselling, including a discussion of what genetic testing is available, can be offered to women and their partners who are concerned about their risk of being a carrier or who are found to be carriers of thalassaemia, other haemoglobinopathies or any genetic or inherited conditions.

In some countries in Asia, the Middle East and northern Africa, consanguinity (marriage between blood relatives) is more common than in others. It is associated with a slightly higher than average risk of birth anomalies. For example, first cousins have a 5-6% chance of having a child with a genetic condition or birth anomaly. This risk is much higher if their parents or grandparents are also consanguineous. If consanguinity is identified, referral to genetic counselling may be appropriate.

Genetic counselling - practical advice
(Adapted from Queensland Health Multicultural Services, 2009)

• Provide a professional interpreter to discuss antenatal testing.
• Be aware that some ethnicities are at higher risk of some diseases and genetic disorders (eg diabetes in women from South Asian backgrounds, malaria in women from sub-Saharan backgrounds and thalassaemia among women from Middle Eastern backgrounds) (Mehta, 2012: McLeod & Reeve, 2005).
• Be aware that traditions such as consanguinity (cousin marriage) may be associated with a higher risk of birth anomalies and refer for genetic counselling.
• Establish whether each test, including its benefits and risks, is understood by, and acceptable to, the individual woman.
• Before conducting antenatal screening tests, ensure that the woman understands the implications and possible interventions indicated by the result (eg elective abortion). If she does not intend to consider interventions regardless of the outcome, the procedure may be unnecessary.
• Be flexible when making appointments for investigations – remember that some dates may be unacceptable due to religious or cultural considerations.
• Respect a woman’s decision not to undergo a test and suggest genetic counselling.