Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy
Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy
复制标题
DOI：
10.1001/jamacardio.2017.5333
复制
发表时间：
2018-04-01
期刊：
影响因子：
24
通讯作者：
Rehm, Heidi L.
中科院分区：
文献类型：
--
作者：
Landry, Latrice G.;Rehm, Heidi L.
所有种族/族裔的个人都有获得保健和受益于科学和医学进步的基本权利，包括基因检测。目的：确定白人、亚洲人和代表性不足的少数民族（黑人、西班牙裔、美洲原住民、阿拉斯加原住民或太平洋岛民后裔）的心肌病基因检测检出率是否存在差异。设计、环境和参与者：我们对2003年10月至2017年12月间5729名疑似心肌病诊断或有心肌病家族史的先证者进行了遗传面板检测结果的横断面分析。测试在马萨诸塞州剑桥市的伙伴个性化医学分子医学实验室进行。结果被分为3类自我报告的种族/民族：白人、亚洲人和代表性不足的少数民族。主要结局和测量主要结局是是否发现了一种致病或可能致病的变异，可以解释心肌病的特征或家族史。次要结果是由于存在1个或多个意义不确定的变异，在没有解释心肌病特征或家族史的情况下，检测结果不确定的数量。结果共调查先证者5729例，其中男性3523例，占61.5%。其中4539人（79.2%）是白人，348人（6.1%）是亚洲人，842人（14.7%）是少数族裔。白人1314例（29.0%），少数民族155例（18.4%），chi(2)(1) = 39.8；P
IMPORTANCE Individuals of all races/ethnicities have a fundamental right to access health care and benefit from advances in science and medicine, including genetic testing.OBJECTIVE To determine whether detection rates for cardiomyopathy genetic testing differed between white people, Asian people, and underrepresented minorities (individuals of black, Hispanic, Native American, Alaskan Native, or Pacific Islander descent).DESIGN, SETTING, AND PARTICIPANTS We conducted a cross-sectional analysis of the genetic panel test results of 5729 probands who had a suspected diagnosis or family history of cardiomyopathy and who had been referred for testing between October 2003 and December 2017. Testing was performed at the Laboratory for Molecular Medicine at Partners Personalized Medicine in Cambridge, Massachusetts. Results were stratified into 3 categories of self-reported race/ethnicity: white, Asian, and underrepresented minorities.MAIN OUTCOMES AND MEASURES The primary outcome was whether a pathogenic or likely pathogenic variant was identified that explained the features or family history of cardiomyopathy. A secondary outcome was the number of test results that were inconclusive because of the presence of 1 or more variants of uncertain significance in the absence of an explanation for cardiomyopathy features or family history.RESULTS A total of 5729 probands were studied (of whom 3523 [61.5%] were male). Of these, 4539 (79.2%) were white, 348 (6.1%) were Asian individuals, and 842 (14.7%) were underrepresented minorities. Positive detection occurred in 1314 white individuals (29.0%) compared with 155 underrepresented minorities (18.4%; chi(2)(1) = 39.8; P