Genetic Counselling

Question 1

Newborn Screening Programme

Answer 1

• Identification of babies with CF to allow early treatment interventions
• Based on heel-prick immuno-reactive trypsinogen (IRT) level
• Raised IRT - test using CF mutation kit
• CF suspected if IRT raised and one pathogenic mutation found
• CF confirmed if 2 pathogenic mutations found

Question 2

Pre-Symptomatic Testing

Answer 2

• No preventaive treatment available.
• Pre-symptomatic testing protocol - non-directive full information on test and limitations which gives the opportunity for facilitated decision-making.

Question 3

Issues to consider in genetic diagnosis?

Answer 3

• Insurance
• Employment
• Relationships

Question 4

Genetic Counselling Definition

Answer 4

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

Question 5

What does genetic counselling integrate?

Answer 5

• Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
• Education about inheritance, testing, management, prevention, resources and research.
• Counselling to promote informed choices and adaptation to the risk or condition.