Table 1 Summary of case scenarios

1

Genetic risk with implications to genetic relatives

A 26-year old woman affected with breast cancer and a BRCA1 mutation carrier who actively refused to inform her older sister of the potential risk

2

Genetic risk with no implications to genetic relatives, but potential threats to relatives’ offspring

A woman identified as an X-linked haemophilia carrier, following the birth of an affected son, who actively refused to inform her sister of her potential carrier status and possibility of an affected pregnancy.

3

Genetic risk with implications to genetic relatives and relatives’ offspring

A woman identified as a Fragile X carrier, following the birth of an affected son, who actively refused to inform her sister of potential carrier status and risks, and possibility of an affected pregnancy.

4

Genetic risk with implications to genetic relatives and their unborn children

A 29-year old man identified with a balanced chromosome translocation, following an investigation of his partner’s history of recurrent miscarriages, who actively refused to inform his sister of her risk of having the same translocation and potentially multiple miscarriages.