Genetic counselling for hereditary predisposition to ovarian and breast cancer

被引:12
|
作者
Mackay, J. [1 ]
Szecsei, C. M. [2 ]
机构
[1] UCL, Res Dept Genet Evolut & Environm, London NW1 2HE, England
[2] UCL Sch Life & Med Sci, UCL Med Sch, London, England
关键词
BCtect; BRCA1; 2; testing; clinical service development; CYP; 2D6; genotyping; PARP inhibitors; tamoxifen; FAMILY-HISTORY; TAMOXIFEN METABOLISM; CYP2D6; GENOTYPE; POLY(ADP-RIBOSE); WOMEN; INHIBITION; SUSCEPTIBILITY; ASSOCIATION; RISKS; BRCA1;
D O I
10.1093/annonc/mdq365
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Since the identification of BRCA 1 and 2 in 1995, testing for mutations in these genes has been offered to cancer patients and their families by clinical genetics services. These services are provided across Europe by a small number of health professionals, and are therefore low volume, and low capacity and patients experience considerable delays, both in seeing a clinician and in laboratory testing. The UK private sector, driven by consumer demand and professional competition, has significantly reduced these delays. The development of a new class of therapeutic agent, the PARP inhibitors, is likely to drive the BRCA testing services towards the UK private sector model with much faster turnaround times. Several new genetic tests are now available including CYP 2D6 genotype analysis and the BCtect test. The clinical interpretation of these tests is complex, and the professional community has been naturally cautious about adopting new tests in clinical care. This article will examine the consequences of expected changes in BRCA testing practice, and consider the positioning of new tests in the patient pathway, and the messages given by health professionals.
引用
收藏
页码:334 / 338
页数:5
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