Forman Andrea D, Hall Michael J
Familial Risk Assessment Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111, USA.
Breast J. 2009 Sep-Oct;15 Suppl 1:S56-62. doi: 10.1111/j.1524-4741.2009.00798.x.
Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.
在美国,对于符合遗传性乳腺癌和卵巢癌(HBOC)高风险标准的个体,将风险评估与癌症易感基因BRCA1和BRCA2(BRCA1/2)的遗传咨询及检测相结合,已成为全面患者评估和癌症风险管理的一个重要组成部分。对于突变携带者,几种降低风险的选择已大幅降低了未来患癌风险。然而,最近的几项研究表明,少数族裔人群中BRCA1/2咨询和检测的比例较低。在此,我们探讨种族/族裔在HBOC以及BRCA1/2癌症易感基因的癌症风险评估、遗传咨询和基因检测中的作用。将回顾与种族/族裔及服务不足人群相关的遗传服务障碍,包括社会经济障碍(如时间、可及性、地理、语言/文化、认知、成本)和心理社会障碍(如对医疗的不信任、认为遗传服务存在劣势),以及一旦确定突变携带者后在护理方面的其他障碍。