Abstract
BackgroundGermline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service.Design/methodsIn this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals’ attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention.DiscussionThis trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed.Trial registrationThe study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12610000502033)
Highlights
Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘treatment-focused genetic testing’ (TFGT)’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women
Genetic counseling and testing offered around the time of breast cancer diagnosis aims to provide the patient with genetic information that will assist in the choice of breast cancer treatment, primarily the choice between breast-conserving therapy (BCT) and mastectomy
If TFGT is to be expanded across clinical services, rapid access to a genetics practitioner is unlikely to be possible especially in smaller rural and regional hospitals, where visiting nongenetics specialists may need to deliver the results of genetic testing to the patient
Summary
Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Women newly diagnosed with breast cancer with a BRCA mutation must choose whether to undergo BCT, unilateral mastectomy, or prophylactic bilateral mastectomies to prevent future breast cancers [1] The incidence of another tumor developing in the treated breast increases in BRCA mutation carriers with longer follow-up [1] and it varies with the type of local therapy [2]. Further advances in sequencing will substantially reduce the cost of genetic analysis [11] and will open the opportunity for genetic testing to even more women who might benefit from this information This means that a woman’s BRCA mutation status can feasibly be used to inform her surgical decisions regarding BCT or mastectomy (unilateral or bilateral). There is a pressing need to develop cost effective clinical pathways which utilize the multidisciplinary cancer and genetics team, in order to offer TFGT in a streamlined way which is acceptable to patients and health care providers
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