Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs
Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs
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DOI：
10.1002/jgc4.1281
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发表时间：
2020-04-11
影响因子：
1.9
通讯作者：
Li-Rosi, Ana Maria
中科院分区：
文献类型：
--
作者：
Hussain, Saida B.;Quittner, Alexandra L.;Li-Rosi, Ana Maria
基因组医学的进步已经发展到包括儿科重症监护环境中的快速全基因组测序(RWGS)。传统上，基因检测是在门诊进行的，分阶段进行基因检测需要几年时间。这推迟了诊断的时间，使得纳入代表性不足的群体变得更加困难，例如那些认为自己是黑人和拉丁裔的人。国家基因测序计划也很难让这些参与者参与他们的研究，导致获得新基因技术的机会存在显著差异。我们研究的目的是比较参加奥德赛计划(N=46)和新实施的rWGS测序计划(N=52)的家庭的人口统计学特征。奥德赛计划定义为在遗传学诊所接受过基因测试的门诊患者。尽管生活在一个种族多元化的大城市，我们的结果表明，参加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参加rWGS计划的父母有显著差异。例如，在诊断奥德赛项目中，71.5%的父母拥有大学或更高学历，而在rWGS项目中，42%的父母拥有这种水平的教育。家庭收入和保险也有所不同，奥德赛计划中48.6%的家庭收入达到或超过10万美元，而rWGS计划中的28.2%；奥德赛计划中56%的父母有私人保险，其中26%参加了医疗补助；而参加rWGS计划的父母中只有23%有私人保险，绝大多数孩子都参加了医疗补助(69%)。因此，我们的奥德赛计划说明了在一个种族多元化的社区实施基因组测试的一些常见陷阱，包括缺乏转诊、前往门诊就诊以及与提供者的文化不匹配。代表人数不足的群体成功加入rWGS计划表明，由于有机会参与基因检测，家庭对这种检测对他们孩子的潜在好处很感兴趣，并意识到这一点。随着基因组测序从门诊过渡到住院，出现了缩小健康差距的机会。讨论了在儿科和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共同障碍。
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.