Cost-Effectiveness Analysis of Genetic Testing

22 Jan 2018

Professor Luke Connelly’s work with colleagues from Griffith University, The University of Queensland and the Department of Human Services on genetic testing in breast and ovarian cancer has been published in the Nature journal Genetics in Medicine.

The article examines the effectiveness and cost-effectiveness of testing women who are diagnosed with breast cancer for the BRCA1 and BRCA2 genetic mutations, as well as their first-degree relatives (e.g., daughters, siblings) when a mutation is found. BRCA mutation carriers have an elevated risk of breast and ovarian cancer.

The information that genetic testing can provide to the relatives of women with a BRCA-positive test result may help them to make important life choices such as when to have children and whether clinical interventions, such as more frequent screening or mastectomy and oophorectomy procedures should be considered.