US Food and Drug Administration, Silver Spring, Maryland.
Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.
JAMA Cardiol. 2018 Apr 1;3(4):341-345. doi: 10.1001/jamacardio.2017.5333.
Individuals of all races/ethnicities have a fundamental right to access health care and benefit from advances in science and medicine, including genetic testing.
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.
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.
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%; χ21 = 39.8; P < .001) and 87 Asian individuals (25.0%; χ21 = 2.5; P = .12). Inconclusive results were found in 1115 white individuals (24.6%) compared with 335 underrepresented minorities (39.8%; χ21 = 83.6; P < .001) and 136 Asian individuals (39.2%; χ21 = 35.8; P < .001).
These results show a significantly higher positive detection rate and a significantly lower rate of inconclusive results in white individuals in comparison with underrepresented minorities. This suggests greater clinical usefulness of genetic testing for cardiomyopathy in white persons in comparison with people of other racial/ethnic groups. This clear disparity warrants further study to understand the gaps in usefulness, which may derive from a lack of clinical testing and research in underrepresented minority populations, in the hopes of improving genetic testing outcomes for cardiomyopathy in nonwhite groups.
所有种族/族裔的个人都有获得医疗保健的基本权利，并从科学和医学的进步中受益，包括基因检测。
确定在白人、亚洲人和代表性不足的少数族裔（黑种人、西班牙裔、美国原住民、阿拉斯加原住民或太平洋岛民后裔）中，心肌病基因检测的检出率是否存在差异。
设计、地点和参与者：我们对 5729 名疑似诊断或有心肌病家族史的先证者的基因面板检测结果进行了横断面分析，这些先证者在 2003 年 10 月至 2017 年 12 月期间被转诊进行检测。检测在马萨诸塞州剑桥市的合作伙伴个性化医学实验室的分子医学实验室进行。结果分为 3 类自我报告的种族/族裔：白人、亚洲人和代表性不足的少数族裔。
主要结局是确定是否存在致病性或可能致病性的变异，该变异可以解释心肌病的特征或家族史。次要结局是由于在没有对心肌病特征或家族史的解释的情况下存在 1 个或多个意义不明的变异，导致检测结果不确定的数量。
共研究了 5729 名先证者（其中 3523 名[61.5%]为男性）。其中，4539 名（79.2%）为白人，348 名（6.1%）为亚洲人，842 名（14.7%）为代表性不足的少数族裔。在 1314 名白人（29.0%）中发现了阳性检测结果，而在 155 名代表性不足的少数族裔（18.4%；χ21=39.8；P<0.001）和 87 名亚洲人（25.0%；χ21=2.5；P=0.12）中发现了阳性检测结果。在 1115 名白人（24.6%）中发现了不确定的结果，而在 335 名代表性不足的少数族裔（39.8%；χ21=83.6；P<0.001）和 136 名亚洲人（39.2%；χ21=35.8；P<0.001）中发现了不确定的结果。
这些结果表明，与代表性不足的少数族裔相比，白人的阳性检测率显著更高，不确定结果的比例显著更低。这表明，与其他种族/族裔群体相比，基因检测在白人中对心肌病的临床应用更为有效。这种明显的差异需要进一步研究，以了解有用性方面的差距，这可能源于代表性不足的少数族裔人群中缺乏临床检测和研究，希望改善非白人种族/族裔群体的心肌病基因检测结果。
