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Psychosocial Issues in Inherited Breast Cancer Syndromes


    Furthermore, accrual statistics in different populations are difficult to compare because there are many points in the genetic risk assessment process at which a family member can decline, and no standard method of reporting these rates has been developed.[16] Factors that may influence uptake of testing include the following:

    • Cost of genetic testing.
    • How informative testing would be (e.g., presence of a known mutation in the family or ethnic group vs. lack of an identified mutation).
    • Extent to which genetic test results are likely to influence clinical decision-making.[17]

    Motivations for testing include the belief that testing positive would increase one's motivation to get regular clinical breast examinations, to do breast self-exams, and to get recommended mammograms.[18] Women known to be at increased risk do not necessarily adhere to screening recommendations at higher rates than women at population risk, nor do they necessarily pursue or complete genetic testing, though the data on this subject are contradictory.[19,20,21] An additional motivation for testing is to receive information that would benefit other family members.[22]

    Another motivator for testing may be recommendation by a physician. In a retrospective study of 335 women considering genetic testing, 77% reported that they wanted the opinion of the genetics physician about whether they should be tested, and 49% wanted the opinion of their primary care provider.[23] However, there is some evidence of referral bias favoring those with a maternal family history. In a Canadian retrospective review of 315 patients, those with a maternal family history of breast cancer or ovarian cancer were 4.9 times (95% CI, 3.6–6.7) more likely to be referred for a cancer genetics consultation by their physician than were those with a paternal family history (P < .001).[24] Studies have found that physicians may not adequately assess paternal family history [25] or may underestimate the significance of a paternal family history for genetic risk.[25,26,27]

    In one study of women who pursued BRCA1 and BRCA2 mutation testing and received uninformative test results, 45% (17/40) were interested in undergoing additional testing for five large rearrangements (deletions and insertions) in the BRCA1 gene. There were no significant differences in BRCAPRO scores, age at time of genetic testing, number of children, or number of siblings between individuals who chose to pursue additional testing and those who declined. Women who chose to undergo additional testing were significantly less likely to have a diagnosis of breast or ovarian cancer at the time of initial testing.[28]


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