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Table 1 Summary of case scenarios

From: Disclosure to genetic relatives without consent – Australian genetic professionals’ awareness of the health privacy law

NumberCaseScenario summary
1Genetic risk with implications to genetic relativesA 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
2Genetic risk with no implications to genetic relatives, but potential threats to relatives’ offspringA 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.
3Genetic risk with implications to genetic relatives and relatives’ offspringA 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.
4Genetic risk with implications to genetic relatives and their unborn childrenA 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.