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Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutaion carriers
  1. P A James,
  2. M Harris,
  3. G J Lindeman,
  4. G Mitchell
  1. Victorian Familial Cancer Genetics Clinics, Melbourne, Australia
  1. Dr P A James, Genetic Health Services Victoria, 10th Floor, Royal Children's Hospital, Flemington Rd, Parkville, Melbourne 3052, Australia; paul.james{at}

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We read with interest the study by Antoniou et al,1 in which they compared a number of the described methods for assessing the probability that a BRCA1 or BRCA2 gene mutation is the cause of a family history of breast or ovarian cancer in 1934 families of non-Ashkenazi Jewish origin. In this study, several methods, particularly the BOADICEA model, showed a high degree of discrimination between families who are mutation positive and negative on current testing. We believe these data fully support the authors conclusion that “More systematic use of these models in clinic… would have the advantage of ensuring equity of access to genetic testing as well as making the management decision making process clearer and more explicit”. In their accompanying commentary, Hopper et al2 go further and suggest that the accuracy of the best methods, such as BOADICEA, warrant them taking the prime position in the decision-making process when assessing which families should go forward for clinical BRCA1 and BRCA2 mutation testing. When it comes to clinical application, however, it appears that the picture revealed by these data is more complex and show that assessments need to occur within a framework of clinical judgement if the resources available for genetic testing are to be converted into the greatest possible health benefits for these families.

In the study by Antoniou et al, the majority of patients who had been tested through a clinical service had …

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