Genetic Counselling

Question 1

What is genetic counselling?

Answer 1

process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease

Question 2

What are the components of genetic counselling?

Answer 2

• interpretation of family and medical histories to assess change of disease occurrence/recurrence
• education about inheritance, testing, management, prevention, resources and research
• counselling to promote informed choices and adaptation to the risk or condition

Question 3

What are the genetic testing options for pregnancies?

Answer 3

• Pre-natal diagnosis: chorionic villus sampling, amniocentesis
• pre-implantation genetic diagnosis

Question 4

What are the issues that genetic counsellors might need to discuss with families?

Answer 4

• risk to the patient
• risk to the patient’s relatives (cascade testing?)
• risk to future pregnancies
• implications of the disease/disorder
• treatment options
• if affecting unborn child whether it is worth terminating the pregnancy