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Cancer Control Research

5R21CA127837-02
Acheson, Louise S.
WEB-BASED FAMILY HISTORY SCREENING FOR HEREDITARY BREAST CANCER RISK

Abstract

DESCRIPTION (provided by applicant): The US Preventive Services Task Force (USPSTF) recently recommended that women at increased risk of BRCA gene mutations associated with hereditary breast-ovarian cancer (HBOC) be referred for genetic counseling. Evidence from selected women who tested positive for BRCA mutations showed benefit from risk-reducing surgery; but the effects of screening unselected women for HBOC risk using USPSTF family history criteria are unknown as widespread familial risk assessment has not been feasible. Lack of a streamlined way to screen for HBOC risk poses a barrier to implementing and evaluating the USPTF guideline as a means for targeting cancer prevention and early detection. We have developed and validated a self-administered, computerized familial cancer risk assessment tool that applies USPSTF criteria to identify women at increased risk of HBOC. We hypothesize that this tool will be a feasible and acceptable method to screen for HBOC risk in the context of a high-volume mammography screening and breast diagnostic center. Therefore we aim: 1. To evaluate the acceptability of the Genetic Risk Easy Assessment Tool (GREAT) as an automated means to identify and inform women at increased risk of HBOC. 2. To compare the sensitivity and specificity of the USPSTF criteria to other family history criteria for identifying women likely to benefit from genetic counseling about early detection and prevention of HBOC. We will conduct an implementation study of web-based family history screening to identify women at increased risk for HBOC. 6500 women obtaining mammograms or consultations at a Breast Center will be invited to use the computerized family history tool. Each user will receive a personalized family history assessment generated by the GREAT. All women with family histories that meet USPSTF criteria for increased risk of HBOC will be offered cancer genetic counseling. Participants will use on-line questionnaires to evaluate the screening and the risk information provided by the computerized tool. Follow- up interviews will assess participants' knowledge and attitudes about HBOC and reasons for pursuing (or not) genetic counseling and testing. Genetics professionals will review data from each participant to determine whether she or her family members might be suitable candidates for direct genetic testing. This study will show the uptake and acceptability of a web-based family history screening tool among women attending a breast diagnostic center, the proportion of women at increased HBOC risk among those having screening mammograms, and the sensitivity and specificity of USPSTF and other HBOC risk criteria for finding women most likely to benefit from cancer genetic counseling. If new methods using computer- generated family history increase the efficiency of cancer genetic risk assessment, they could make genetically-targeted prevention strategies more accessible and feasible for reducing cancer burden. This study will evaluate the feasibility and acceptability of using a web-based family cancer risk assessment tool to find and inform women whose family history suggests increased risk of hereditary breast-ovarian cancer. The US Preventive Services Task Force recently determined that such women may benefit from special measures to prevent cancer, and recommended they be referred for genetic counseling, but acknowledged that means for widespread family history screening need to be developed. Women coming to a Breast Center for mammogram or diagnosis of a breast problem will be offered web-based family history screening and we will evaluate their responses as well as the sensitivity and specificity of several family history criteria for identifying suitable candidates for cancer genetic counseling and genetic testing.

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