Generation study

Question 1

Penetrance

Answer 1

The proportion of individuals with a particular genotypewho express the associated phenotype.

Question 2

4 bespoke principles of Generation Study

Answer 2

A: There is strong evidence that the genetic variant(s) causes the condition and can be reliably detected

B: A high proportion of individuals who have the genetic variant(s) would be expected to have symptoms that would have a debilitating impact on quality of life if left undiagnosed.

C: Early or pre-symptomatic intervention for the condition has been shown to lead to substantially improved outcomes in children, compared to intervention after the onset of symptoms.

D: Conditions screened for are only those for which the interventions are equitably accessible for all.

Question 3

Penetrance degree

Answer 3

100% penetrance for Huntington Disease and around 47% for BRC2 gene