Clin Wk 2

Question 1

What is genetic carrier screening? What does it test for, and for what conditions?

Answer 1

• Testing for carrier status of X-linked or recessive genetic conditions
• Tests for conditions like cystic fibrosis, SMA, Fragile X, Sickle Cell, Tay-Sachs disease

Question 2

What are the implications of genetic carrier screening?

Answer 2

• Gives more options to parents
• They can: conceive naturally, conceive naturally and test after birth, test during pregnancy, get IVF and check before implantation, or have no kids/adopt

Question 3

What are four ethical considerations of genetic carrier screening?

Answer 3

1. Repro autonomy (must be informed to opt in/out)
2. Confidentiality (don’t tell anyone else results)
3. Respect for diversity (could decrease disability rates, increasing stigma/rarity, lack of diversity in genomic dataset). Think of aryan race in Nazi Germany
4. Perceived loss of autonomy

Question 4

What should be discussed with patients regarded reproductive carrier genetic testing?

Answer 4

• What is it?
• What does it mean to be a carrier?
• How much does it cost?
• What diseases does it test for/chances of being a carrier?
• Does not guarantee healthy baby; just lower risk of these specific conditions
• A parent may be identified as having the diseases unknowingly