Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice.
Long-term psychosocial outcomes of BRCA1/BRCA2 testing: differences across affected status and risk-reducing surgery choice.
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DOI：
10.1158/1055-9965.epi-11-0991
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发表时间：
2012-03
期刊：
影响因子：
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通讯作者：
Schwartz MD
中科院分区：
文献类型：
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作者：
Graves KD;Vegella P;Poggi EA;Peshkin BN;Tong A;Isaacs C;Finch C;Kelly S;Taylor KL;Luta G;Schwartz MD
许多研究已经记录了BRCA 1/BRCA 2（BRCA 1/2）测试的短期影响;然而，很少有研究检查测试的长期影响。我们在美国进行了第一项关于BRCA 1/2检测的女性样本的心理社会结果的长期前瞻性研究。参与者是464名接受BRCA 1/2突变基因检测的女性。在测试之前，我们测量了社会人口统计学，临床变量以及癌症特异性和一般痛苦。在长期随访（中位数=5.0年;范围=3.4至9.1年）中，我们评估了癌症特异性和基因检测的痛苦，感知压力和感知癌症风险。我们评估了BRCA 1/2检测结果和风险降低手术对长期心理社会结局的影响。在患有乳腺癌或卵巢癌的参与者中，BRCA 1/2携带者报告了更高的基因检测痛苦（β=0.41，P<0.0001），不确定性（β=0.18，P<0.0001）和感知压力（β=0.17，P=0.005）与接受阴性（即，无信息）的结果。在未患乳腺癌/卵巢癌的女性中，BRCA 1/2携带者报告的基因检测痛苦（β=0.39，P<0.0001）和阳性检测经历（β=0.25，P=0.008）高于阴性结果的女性。接受降低风险的手术与较低的癌症风险相关（P<0.0001）。在美国样本的第一项前瞻性长期研究中，我们发现与接受无信息或阴性测试结果的女性相比，BRCA 1/2携带者的痛苦程度略有增加。尽管这种痛苦的适度增加，我们没有发现临床显著功能障碍的证据。虽然阳性BRCA 1/2结果在测试后几年仍然在携带者中很突出，但测试似乎不会影响长期的心理功能障碍。
Numerous studies have documented the short-term impact of BRCA1/BRCA2 (BRCA1/2) testing; however, little research has examined the long-term impact of testing. We conducted the first long-term prospective study of psychosocial outcomes in a U.S. sample of women who had BRCA1/2 testing. Participants were 464 women who underwent genetic testing for BRCA1/2 mutations. Prior to testing, we measured sociodemographics, clinical variables, and cancer specific and general distress. At long-term follow-up (Median=5.0 years; Range=3.4 to 9.1 years), we assessed cancer specific and genetic testing distress, perceived stress and perceived cancer risk. We evaluated the impact of BRCA1/2 test result and risk reducing surgery on long-term psychosocial outcomes. Among participants who had been affected with breast or ovarian cancer, BRCA1/2 carriers reported higher genetic testing distress (β=0.41, P<0.0001), uncertainty (β=0.18, P<0.0001) and perceived stress (β=0.17, P=0.005) compared to women who received negative (i.e., uninformative) results. Among women unaffected with breast/ovarian cancer, BRCA1/2 carriers reported higher genetic testing distress (β=0.39, P<0.0001) and lower positive testing experiences (β=0.25, P=0.008) than women with negative results. Receipt of risk-reducing surgery was associated with lower perceived cancer risk (P<0.0001). In this first prospective long-term study in a U.S. sample, we found modestly increased distress in BRCA1/2 carriers compared to women who received uninformative or negative test results. Despite this modest increase in distress, we found no evidence of clinically significant dysfunction. While a positive BRCA1/2 result remains salient among carriers years after testing, testing does not appear to impact long-term psychological dysfunction.