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The utility of genetics in inherited cancer

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Clinical genetics is a small but important component of patient care

Actress Angelina Jolie’s recent public disclosure of her BRCA1 gene mutation1 has highlighted the role of genetic testing in cancer prevention and management. Her endorsement of the genetic counselling and BRCA1 predictive testing process as helping her to be “empowered” and enabling “informed choices” to pursue preventive surgery has energised many people to actively participate in clinical decision making.

Over the past two decades, genetic services have increasingly used cancer predisposition genetic data to deliver benefits to patients. But any benefit depends on two factors. First, any gene implicated in pathogenesis needs to be validated as a significant and reproducible component of heritability. Second, penetrance — the likelihood that the carrier of the gene mutation will develop cancer — is pivotal for disease risk analysis. This affects counselling, surveillance for disease and the surgical options available.

Cancer genetic services can deliver significant benefits to both…