Genetic Controversies Flashcards
1
Q
Gene testing for inherited disease
A
- Explore reasons for genetic test
- Capacity to receive results
- Knowledge of condition
- Implications on self, family and work
- Insurance and mortgages
- Social network
- Driving license
2
Q
Breast cancer gene mutation testing
A
- BRCA1 (85% risk of breast, 60% ovarian)
- BRCA2
- NHS funded for high risk
- Extra mammographies
- Risk reducing surgery (age-related)
3
Q
Considerations with genetic testing
A
- Age
- Future screening available
- Secrecy with families: respect autonomy/confidentiality but non-maleficence of relatives
4
Q
Circumstances in which pre-natal diagnosis may be carried out
A
- 12-week USS results
- Maternal age
5
Q
Pre-natal testing techniques and considerations
A
- Chorionic villus sampling > 11 weeks
- Amniocentesis > 15 weeks
- 1% risk of miscarriage
- Wishes of each person
- Age of patient
- Termination of pregnancy depending on result
6
Q
Genetic counsellor
A
Autonomy
- Honest
- Evidence-based advice
- No bias
- Withhold personal views
- Express support in decision
7
Q
Impact of supporting patients
A
- Maintain objective approach
- Be self-aware
- Seek support
- Discuss cases with others
