Genetic controversies

Question 1

Name some conditions which may be considered in predictive genetic testing?

Answer 1

Cancer
Huntington’s disease
Turner’s syndrome (Prenatal testing)

Question 2

What are some features of Huntington’s disease?

Answer 2

Neuro-degenerative condition
Autosomal dominant
Onset usually in adulthood
No treatment available

Question 3

What is the chance of a carrier of the Huntington’s Disease gene passing it on to a child?

Answer 3

50%

Question 4

What effect may Huntington’s disease have on a long-term partner?

Answer 4

Would likely become a full-time carer

Question 5

How may Huntington’s disease have on work?

Answer 5

May lose ability to work in areas which would be affected such as driving

Question 6

What is a drawback of prenatal tests like amniocentesis or chorionic villus sampling?

Answer 6

Both carry an approximately 1% chance of miscarriage

Question 7

What is an important and useful resource for genetic conditions diagnosed?

Answer 7

Genetics clinic

Genetic councillor

Question 8

What are some known pathogenic variants in breast cancer?

Answer 8

BRCA1

BRCA2

Question 9

Why may there be secrecy within families?

Answer 9

Not wanting to share relevant genetic information with children at child bearing age. Want to protect them from difficult news

Question 10

What are some factors in clinical ethics which may affect me long term?

Answer 10

Must maintain an objective approach
Be self aware
Seek support and discuss cases with others