■由于种族原因,文化,语言边缘化,一些人群在临床和研究环境中经历了不成比例的遗传检测障碍.由于电子健康记录(EHR)中的非包容性自我报告的种族和种族类别,因此很难跟踪这种差异。所有人群的包容和获取对于实现健康公平和捕获所有罕见遗传疾病至关重要。
■我们的目标是创建修订的种族和民族类别。此外,我们确定了三个队列中的种族和族裔代表性不足:(1)一般波士顿儿童医院患者人群(一般BCH),(2)接受临床基因组检测(临床测序)的BCH患者群体,(3)儿童罕见疾病队列(CRDC)研究倡议参与者。
■种族和种族数据是从一般BCH的EHR收集的,临床测序,和CRDC队列。我们构建了一套完整的种族和种族类别。基于EHR的种族和种族变量在每个队列中映射到修订的类别。然后,在队列中比较了每个修订后的种族和种族类别中的患者人数.
■黑人或非裔美国人/非洲人的比例明显较低,CRDC队列中的非西班牙裔/非拉丁裔个体与一般BCH队列相比,但CRDC和临床测序队列之间没有统计学上的显著差异.多种族的比例明显较低,CRDC队列中的西班牙裔/拉丁裔个体比临床测序队列。白色,与其他两组相比,非西班牙裔/非拉丁裔个体在CRDC中的比例过高.
我们强调,与普通医院人群相比,某些种族和族裔人群在测序队列中的代表性不足。我们提出了一系列措施来解决这些差距,争取公平的未来精准医疗为基础的临床护理和整个罕见疾病社区的利益。
普通诊所中的种族和种族代表,提供基因检测的诊所,波士顿儿童医院的基因组研究背景:那些被认为属于历史上被排除在主流文化之外的种族或民族的个体,政治,和经济活动(“历史上被边缘化”)经历了临床护理的障碍。对于受到罕见遗传条件影响的家庭来说,这些障碍更加复杂。障碍可以表现为无障碍问题(交通,金融,语言),低质量的医疗服务,或不充分纳入研究。重要的是在罕见疾病研究中具有代表性,以便了解这些疾病的全部范围,为所有人提供更好的病人护理,以及健康公平。目标:我们旨在(1)为电子健康记录(EHR)创建新的和包容性的种族和种族类别,以及(2)确定在波士顿儿童医院(一般BCH)常见的患者之间的种族和种族代表性差异。那些在波士顿儿童医院的诊所接受基因检测(临床测序)的人,以及在波士顿儿童医院(CRDC)参加CRDC研究项目的参与者。设计和方法:我们结合了种族和种族类别,以做出比现有EHR类别更具包容性的选择。在观察三个不同的患者组时,观察到种族和种族代表性的差异(一般BCH,临床测序,和CRDC)。结果:我们观察到自我认同为黑人或非裔美国人/非洲人的比例较低,基因检测组(研究和临床)的非西班牙裔/非拉丁裔比一般BCH组。自我认同为多种族的人,与其他两组相比,西班牙裔/拉丁人在CRDC研究中的代表性也不足。在所有组中看到的最高人口百分比是那些被识别为白人的患者,非西班牙裔/非拉丁裔。与其他两个人相比,该组在CRDC研究组中的人数过多。结论:我们的研究发现,与白人相比,历史上被边缘化的患者在临床基因检测和基因组研究中的代表性不足。为了使所有患有罕见遗传疾病的患者受益,这些差异必须通过改善与专科医师/研究人员的接触并在EHR中纳入包容性语言来解决,诊所,和研究协议。
UNASSIGNED: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease.
UNASSIGNED: We aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children\'s Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children\'s Rare Disease Cohort (CRDC) research initiative participants.
UNASSIGNED: Race and ethnicity data were collected from the EHRs of the general BCH, clinical sequencing, and CRDC cohorts. We constructed a single comprehensive set of race and ethnicity categories. EHR-based race and ethnicity variables were mapped within each cohort to the revised categories. Then, the numbers of patients within each revised race and ethnicity category were compared across cohorts.
UNASSIGNED: There was a significantly lower percentage of Black or African American/African, non-Hispanic/non-Latine individuals in the CRDC cohort compared with the general BCH cohort, but there was no statistically significant difference between the CRDC and the clinical sequencing cohorts. There was a significantly lower percentage of multi-racial, Hispanic/Latine individuals in the CRDC cohort than the clinical sequencing cohort. White, non-Hispanic/non-Latine individuals were over-represented in the CRDC compared to the two other groups.
UNASSIGNED: We highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community.
Racial and ethnic representation amongst general clinics, clinics that provide genetic testing, and genomic-based research at Boston Children’s Hospital Background: Individuals who identify as belonging to a race or ethnicity that has been historically excluded from mainstream cultural, political, and economic activities (‘historically marginalized’) experience barriers to clinical care. These barriers are further complicated for families touched by rare genetic conditions. Obstacles can present as accessibility issues (transportation, financial, linguistic), low-quality medical care, or inadequate inclusion in research. It is important to have representation within rare disease research so that the full scope of these conditions is understood, leading to better patient care for all, and for health equity. Objective: We aimed to (1) to create new and inclusive race and ethnicity categories for the electronic health record (EHR) and (2) identify differences in racial and ethnic representation amongst patients generally seen at Boston Children’s Hospital (general BCH), those who received genetic testing in a clinic at Boston Children’s Hospital (clinical sequencing), and participants who enrolled in the CRDC research project at Boston Children’s Hospital (CRDC). Design and Methods: We combined race and ethnicity categories to make more inclusive options than existing EHR categories. Differences in race and ethnicity representation were observed when looking at the three different patient groups (general BCH, clinical sequencing, and CRDC). Results: We observed a lower percentage of individuals who self-identify as Black or African American/African, non-Hispanic/non-Latine in the genetic testing groups (both research and clinical) than in the general BCH group. Individuals who self-identify as multi-racial, Hispanic/Latine are also under-represented in the CRDC research compared to the two other groups. The highest population percentage seen in all groups was that of patients who identify as White, non-Hispanic/non-Latine. This group was over-represented in the research CRDC group compared to the two others. Conclusion: Our study found that patients who are historically marginalized are underrepresented in clinical genetic testing and genomic research studies compared to their White counterparts. In order to benefit all patients with rare genetic conditions, these differences must be addressed by improving access to specialty physicians/researchers and incorporating inclusive language in the EHR, clinics, and research protocols.