目的:在癌症诊断前通过基因检测确定有遗传综合征风险的人可以积极降低癌症负担的发病率和死亡率。使用健康公平的框架,这项研究描述了出版和参考BRCA1/2基因检测指南(GTG)的全球格局。
方法:本研究采用了系统的文献检索,辅以国际妇科癌症协会(IGCS)非正式调查,并与MyriadGenetics记录交叉引用,为了确定已发布的GTG,他们的原籍国,以及引用它们的国家。
结果:在1011种确定的出版物中,166符合纳入标准,从中确定了46条独特的指南,由18个国家和两个地区(欧洲和英国)出版。来自美国的作者占GTG出版物的63%。系统制图审查显示,34个国家公布和/或引用了指南,IGCS调查显示另外22个国家,与MyriadGenetics的协调揭示了两个国家的更多信息和一个国家的主要信息。在评估的57个国家中,33%的人发布了自己的指南和来自其他国家/地区的参考指南。5%的人发布了自己的指南,但没有引用其他国家/地区。61%的人只引用了另一个国家/地区的指南。195个国家中的138个国家没有数据,不成比例地来自非洲,中东,东欧,和东南亚。
结论:GTG的出版物和引用存在全球地理差异,在已发表的文献中非常重视北美和欧洲的指导方针。这些差异凸显了需要统一的BRCAGTG来改善全球卫生公平性。
Identification of persons at risk for hereditary syndromes through genetic testing prior to cancer diagnosis may proactively reduce the cancer burden morbidity and mortality. Using a framework of health equity, this study characterizes the global landscape of publication and reference to BRCA1/2 genetic testing guidelines (GTG).
This study used a systematic literature search supplemented by an International Gynecologic Cancer Society (IGCS) informal survey and cross referenced with Myriad Genetics records, to identify published GTG, their country of origin, and countries referencing them.
Of 1011 identified publications, 166 met the inclusion criteria, from which 46 unique guidelines were identified, published by 18 countries and two regions (Europe and the UK). Authorship from the USA accounted for 63% of publications on GTG. Systematic mapping reviews revealed 34 countries with published and/or referenced guidelines, the IGCS survey revealed 22 additional countries, and coordination with Myriad Genetics revealed additional information for two countries and primary information for one country. Of the 57 countries evaluated, 33% published their own guidelines and reference guidelines from another country/region, 5% published their own guidelines without referencing another country/region, and 61% only referenced a guideline from another country/region. No data were available for 138 of 195 countries, disproportionately from Africa, the Middle East, Eastern Europe, and Southeast Asia.
Global geographic disparities in the publication and referencing of GTG exist, with a large emphasis on North American and European guidelines in the published literature. These disparities highlight a need for uniform BRCA GTG to improve global health equity.