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

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.

Authors' conclusions: 

This review found favourable outcomes for patients after risk assessment for familial breast cancer. However, there were too few papers to make any significant conclusions about how best to deliver cancer genetic risk-assessment services. Further research is needed assessing the best means of delivering cancer risk assessment, by different health professionals, in different ways and in alternative locations.

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Background: 

The recognition of an inherited component to breast cancer has led to an increase in demand for information, reassurance, and genetic testing, which has resulted in the creation of genetic clinics for familial cancer. The first step for patients referred to a cancer genetic clinic is a risk assessment.

Objectives: 

To evaluate the impact of cancer genetic risk-assessment services on patients at risk of familial breast cancer.

Search strategy: 

The specialised register maintained by the Cochrane Breast Cancer Group was searched on 16th February 2005. We also searched MEDLINE, EMBASE, CINAHL, PsycLIT, CENTRAL, DARE, ASSIA, Web of Science, SIGLE and LILACS. The original searches covered the period 1985 to February 2005. We also handsearched relevant journals. For this review update the search was repeated through to April 2011.

Selection criteria: 

We considered trials looking at interventions for cancer genetic risk-assessment services for familial breast cancer for inclusion. Trials assessed outcomes such as understanding of risk, satisfaction and psychological well-being. We excluded studies if they concerned cancers other than breast cancer or if participants were not at risk of inherited breast cancer. We also excluded trials concerning the provision of general cancer genetic information or education as this review was concerned with the delivery of genetic risk assessment. Participants could be individuals of any age or gender, with or without a known BRCA mutation, but without a previous history of breast cancer or any other serious illness.

Data collection and analysis: 

Two review authors independently assessed trial quality and extracted data. Additional information was sought from investigators as necessary. Due to the heterogeneity of both the interventions and outcomes, we reported data descriptively.

Main results: 

In this review update, we included five new trials, bringing the total number of included studies to eight. The included trials (pertaining to 10 papers), provided data on 1973 participants and assessed the impact of cancer genetic risk assessment on outcomes including perceived risk of inherited cancer, and psychological distress. This review suggests that cancer genetic risk-assessment services help to reduce distress, improve the accuracy of the perceived risk of breast cancer, and increase knowledge about breast cancer and genetics. The health professional delivering the risk assessment does not appear to have a significant impact on these outcomes.

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