Testing For FCM

Question 1

Positive outcome

Mutation present or absent

Answer 1

Present
- Can arrange follow-up/treatment (+ prognosis)

Absent
- Relief

Either
- Removes uncertainty

Question 2

Negative outcomes
Mutation present (Fuck 'survivor's guilt')

Answer 2

Present

• Anxiety about future illness
• Risk of passing the gene to offspring
• Unlikely to begin treatment at the point of Dx after screening

Question 3

Uncertainties

Answer 3

Absent
- Not always easy to ensure mutation in proband is cause of FHx (especially a missense mutation)

Present

• Environmental modification (exercise/alcohol restriction)
• Medical costs
• Insurability/career concerns