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Cancer genetic risk assessment for individuals at risk of familial breast cancer

Hilgart JS, Coles B, Iredale R
Published Online: 
15 February 2012

The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which resulted in the creation of genetic clinics for familial cancer. Cancer genetic services can involve extended counselling, specialist screening and genetic testing for mutations. Risk assessment is the first step in the process of providing information and support to patients and their families about their risk of inheriting cancer. Information on evidence-based methods of delivering cancer genetic risk-assessment services is, however, sparse. For this review a systematic search, review, and assessment of the literature on the delivery of cancer genetic risk-assessment services for individuals concerned with familial breast cancer was undertaken.

This review included eight trials (10 papers) which covered the process of risk assessment for familial breast cancer. These focused on the psychosocial impact on patients, as well as other outcomes and aspects of service delivery, and provided data on 1973 participants. Due to the limited number of trials, this review found insufficient evidence to make any firm conclusions about the best way to deliver risk-assessment services for individuals concerned about a family history of breast cancer. All eight included studies did, however, demonstrate improvements in psychological well-being and a decrease in the levels of cancer worry as a result of the risk-assessment service. Although limited, the findings of this review suggest that cancer genetic risk-assessment services can help to reduce distress, improve the accuracy of the individual's perceived risk of breast cancer, and increase knowledge about breast cancer and genetics. Existing evidence suggests that such services do not cause patients any harm and, in the short-term, can have a positive effect by helping to ease distress and decrease cancer worry. From this review, it does not appear that the health professional delivering the risk assessment has a significant impact on these outcomes.

This record should be cited as: 
Hilgart JS, Coles B, Iredale R. Cancer genetic risk assessment for individuals at risk of familial breast cancer. Cochrane Database of Systematic Reviews 2012, Issue 2. Art. No.: CD003721. DOI: 10.1002/14651858.CD003721.pub3
Assessed as up to date: 
8 April 2011
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