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Towards more effective and equitable genetic testing for BRCA1 and BRCA2 mutation carriers

¹ Centre for Molecular, Analytic, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Australia
² Department of Pathology, University of Melbourne, Melbourne, Australia
³ The Cancer Council of Victoria, Victoria, Australia
⁴ Clinical Genetics Department, Royal Melbourne Hospital, Melbourne, Australia

Correspondence to:
Professor J L Hopper, Department of Public Health, University of Melbourne, Australia; j.hopper@unimelb.edu.au]

Received 8 April 2008
Revised version received 8 April 2008
Accepted 10 April 2008

The first 150 words of the full text of this article appear below.

Cochrane¹ proposed that, because resources are always limited, they should be used to provide equitably those forms of health care that have been shown in properly designed evaluations to be effective. Consistently with this suggestion, Antoniou et al² in this issue of JMG (see page 425), examined the performance of several algorithms for predicting the BRCA1 and BRCA2 mutation status of women attending UK cancer family clinics over the past decade or so. They concluded, not unreasonably, that the widespread use of these models would "improve equity of access and the cost-effectiveness of genetic testing". However, they did not describe policy changes that would achieve these gains.

Antoniou et al² showed that the various genotype-prediction models are reasonably well calibrated, in that out of 100 women with a prediction probability of x%, approximately x will be a mutation carrier, at least for women with a reasonably high chance of . . . [Full text of this article]

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