Genetic dilemmas Flashcards Preview

Year 3 - Ethics and Law > Genetic dilemmas > Flashcards

Flashcards in Genetic dilemmas Deck (10)
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1

What is the role of a clinical geneticist?

- Identify patients with, or at risk of a genetic condition
- Communicate genetic information in an understandable, non-directive manner
- Offer recommendations (screening)
- Discuss implications of gene testing
- Options (treatment)

2

Type of inheritance in Huntingtons?

Autosomal dominant

3

If a daughter tests positive for Huntingtons disease who should be tested next?

The father will be a obligate carrier

4

Prenatal diagnosis?

- Chorionic villus sampling >11 weeks

- 12 week viability scans (USS) - Nuchal folds

- Amniocentesis >15 weeks

5

Which mutations are associated with developing breast and ovarian cancer?

BRCA1 and BRCA2

6

What tests can be used to screen fro breast cancer?

- Genetic screening for mutations in BRCA1 and BRCA2
- Mammography

7

If an individual is BRCA1 or BRCA2 positive what treatment may they consider?

Prophylactic surgery to remove their breast or ovaries

8

What are the risks involved in antenatal testing?

- Increased risk of miscarriage
- 50% risk of terminating a healthy fetus

9

If a father is positive for Huntington's what is the chance of the child being positive?

50%

10

What chromosome is affected in Huntingtons?

Chromosome 4