BRCA1 TESTING IN A LARGE AFRICAN AMERICAN KINDRED

该项目建议通过检查遗传咨询和测试的利用情况，以及在与特定BRCA1突变相关的大型扩展非裔美国人家族(K2099)中收到遗传信息时的行为和心理社会反应，来解决关于癌症易感性测试的文献中的一个关键空白。从这项研究中获得的信息可能会指导临床干预措施，帮助促进遵守BRCA1突变携带者和非携带者的癌症预防和筛查指南，并防止具有类似K2099特征的家庭中与接受遗传信息有关的心理社会障碍。这项研究的发现也可能被转化为文化上适当的干预措施，以促进健康的行为和应对。女性BRCA1突变携带者患乳腺癌或卵巢癌的风险非常高。男性携带者患前列腺癌的风险增加，并可能将BRCA1突变遗传给他们的后代。一项针对大约150名K2099成员及其配偶/伴侣的前瞻性研究将在四年内进行。在提供检测时和结果会议上将提供遗传教育和咨询。在测试各种行为和心理社会措施之前和之后，将通过详细的问卷收集数据。具体目的是：(1)确定决定选择或拒绝遗传咨询和检测服务的预测因素；(2)调查成年女性和男性亲属成员的配偶/伴侣对BRCA1检测的态度，并确定它们如何影响BRCA1检测决策；(3)评估BRCA1突变的遗传咨询和检测对亲属及其配偶/伴侣的心理和社会福祉的影响；(4)确定遗传咨询和检测以及对BRCA1突变携带者状况的了解如何影响成年女性和男性的卫生服务利用和健康行为；以及(5)描述BRCA1突变相关癌症的遗传咨询和检测的促进者和障碍，以及对筛查和预防措施的利用。

This project proposes to address a critical gap in the literature regarding cancer susceptibility testing by examining utilization of genetic counseling and testing, and behavioral and psychosocial responses to the receipt of genetic information among a large, extended African American kindred (K2099) linked to a specific BRCA1 mutation. Information derived from this study may guide clinical interventions that help promote adherence to cancer prevention and screening guidelines for BRCAl mutation carriers and noncarriers and prevent psychosocial dysflmction related to receiving genetic information among families with characteristics similar to K2099. The findings from this study may also be translated into culturally appropriate interventions to promote healthy behaviors and coping. Female BRCA1 mutation carriers have a very high risk of developing breast or ovarian cancer. Male carriers are at an increased risk for prostate cancer and may transmit the BRCA1 mutation to their offspring. A prospective study of approximately 150 members of K2099 and their spouses/partners will be performed over a four year period. Genetic education and counseling will be provided when testing is offered and at the results session. Data will be collected through detailed questionnaires before and after testing on a wide range of behavioral and psychosocial measures. The specific aims are to: (1) identify predictors of the decision to choose or decline genetic counseling and testing services; (2) examine the attitudes towards BRCA1 testing among spouses/partners of adult female and male kindred members and determine how they influence BRCAl testing decisions; (3) evaluate the effects of genetic counseling and testing for BRCA1 mutations on psychological and social well being of kindred members and their spouses/partners; (4) identify how genetic counseling and testing, and knowledge of BRCA1 mutation carrier status influences utilization of health services and health behaviors among adult women and men; and (5) describe facilitators and barriers to genetic counseling and testing and utilization of screening and preventive measures for BRCA1 mutation-linked cancers.