Advances in genomic medicine have evolved to include rapid whole genome sequencing (rWGS) in pediatric intensive care settings. Traditionally, genetic testing was conducted in outpatient clinics, with stepwise genetic testing occurring over several years. This delayed the time to diagnosis, making it more difficult to include underrepresented groups, such as those who identify as Black and Latinx. National genetic sequencing programs have also struggled to engage these participants in their studies, leading to a significant disparity in access to new genetic technologies. The purpose of our study was to compare the demographic characteristics of families enrolled in both an Odyssey Program (N  = 46), defined as outpatients in the Genetics Clinic who have had prior genetic testing, and a newly implemented rWGS (N  = 52) sequencing program. Despite living in a large, ethnically diverse city, our results indicated that parents in the Odyssey program differed significantly from parents in the rWGS program in level of education, family income, and insurance status. For example, 71.5% of parents in the diagnostic Odyssey program had a college or advanced degree, whereas 42% of parents in the rWGS program had this level of education. Family income and insurance also differed, with 48.6% of families in the Odyssey program earning $100,000 or more versus 28.2% in rWGS; 56% of parents in the Odyssey program had private insurance with 26% on Medicaid whereas only 23% of parents in rWGS had private insurance, with the vast majority of children on Medicaid (69%). Thus, our Odyssey program illustrates some of the common pitfalls in implementing genomic testing in an ethnically diverse community, including lack of referrals, travel to outpatient visits, and a cultural mismatch with providers. The successful enrollment of underrepresented groups in the rWGS program demonstrates that given the opportunity to participate in genetic testing, families are interested and aware of the potential benefits of this testing for their child. As genomic sequencing transitions from outpatient to inpatient settings, an opportunity arises to close the health disparity gap. Recommendations for implementing rWGS in pediatric, intensive care settings that address the common barriers faced by underrepresented families are discussed.

中文翻译：

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了解南佛罗里达州不同种族群体的基因组学获取途径：《奥德赛》和快速全基因组测序程序中人口统计学的比较。

基因组医学的发展已经发展到包括在儿科重症监护环境中进行快速全基因组测序（rWGS）。传统上，基因测试是在门诊诊所进行的，逐步进行的基因测试历时数年。这延误了诊断的时间，使包括代表性不足的人群（如那些被认定为黑人和拉丁裔的人群）的纳入变得更加困难。国家基因测序计划还努力使这些参与者参与他们的研究，从而导致在获取新基因技术方面存在巨大差异。我们研究的目的是比较参加两个奥德赛计划的家庭的人口特征（N = 46），定义为在遗传学诊所接受过基因测试的门诊患者，以及新实施的rWGS（N = 52）排序程序。尽管生活在一个大的，种族多元的城市中，但我们的结果表明，奥德赛计划的父母在教育水平，家庭收入和保险状况方面与rWGS计划的父母存在显着差异。例如，诊断性奥德赛计划中有71.5％的父母具有大学或更高的学历，而rWGS计划中有42％的父母具有这一水平的教育。家庭收入和保险也有所不同，Odyssey计划中48.6％的家庭收入为100,000美元或更多，而rWGS中为28.2％。Odyssey计划的父母中有56％拥有私人保险，而Medicaid则有26％，而rWGS中只有23％的父母拥有私人保险，而绝大多数儿童则享有Medicaid（69％）。从而，我们的《奥德赛》计划说明了在一个种族多元化的社区中实施基因组测试的一些常见陷阱，包括缺少转诊，前往门诊就诊以及与服务提供者的文化不匹配。rWGS计划中代表性不足的群体的成功注册表明，只要有机会参加基因检测，家庭就会对这种检测感兴趣并意识到这种检测对孩子的潜在好处。随着基因组测序从门诊到住院的转变，出现了缩小健康差距的机会。讨论了在儿科重症监护环境中实施rWGS的建议，以解决代表性不足的家庭面临的常见障碍。以及与提供者的文化不匹配。rWGS计划中代表性不足的群体的成功注册表明，只要有机会参加基因检测，家庭就会对这种检测感兴趣并意识到这种检测对孩子的潜在好处。随着基因组测序从门诊到住院的转变，出现了缩小健康差距的机会。讨论了在儿科重症监护环境中实施rWGS的建议，以解决代表性不足的家庭面临的常见障碍。以及与提供者的文化不匹配。rWGS计划中代表性不足的群体的成功注册表明，只要有机会参加基因检测，家庭就会对这种检测感兴趣并意识到这种检测对孩子的潜在好处。随着基因组测序从门诊到住院的转变，出现了缩小健康差距的机会。讨论了在儿科重症监护环境中实施rWGS的建议，以解决代表性不足的家庭面临的常见障碍。随着基因组测序从门诊到住院的转变，出现了缩小健康差距的机会。讨论了在儿科重症监护环境中实施rWGS的建议，以解决代表性不足的家庭面临的常见障碍。随着基因组测序从门诊到住院的转变，出现了缩小健康差距的机会。讨论了在儿科重症监护环境中实施rWGS的建议，以解决代表性不足的家庭面临的常见障碍。