St A - Genetic Counselling Flashcards
1
Q
What is genetic counselling?
A
The process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease
2
Q
Genetic counselling integrates what?
A
- Interpretation of family and medical histories,
- Education about inheritance, testing, management, prevention, resources and research.
- Promote informed choices and adaptation to the risk or condition
3
Q
What is R117H?
A
A mild mutation which can cause CF
4
Q
What are some of the issues around pre-symptomatic testing?
A
It can effect insurance, employment and relationships (extended family members may not want to know if they carry the mutatuion)
