Purpose

The Alabama Genomic Health Initiative (AGHI) is a state-funded effort to provide genomic testing. AGHI engages two distinct cohorts across the state of Alabama. One cohort includes children and adults with undiagnosed rare disease; a second includes an unselected adult population. Here we describe findings from the first 176 rare disease and 5369 population cohort AGHI participants.

Methods

AGHI participants enroll in one of two arms of a research protocol that provides access to genomic testing results and biobank participation. Rare disease cohort participants receive genome sequencing to identify primary and secondary findings. Population cohort participants receive genotyping to identify pathogenic and likely pathogenic variants for actionable conditions.

Results

Within the rare disease cohort, genome sequencing identified likely pathogenic or pathogenic variation in 20% of affected individuals. Within the population cohort, 1.5% of individuals received a positive genotyping result. The rate of genotyping results corroborated by reported personal or family history varied by gene.

Conclusions

AGHI demonstrates the ability to provide useful health information in two contexts: rare undiagnosed disease and population screening. This utility should motivate continued exploration of ways in which emerging genomic technologies might benefit broad populations.

中文翻译：

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用于罕见疾病和人群筛查的基于国家的基因组学方法

 目的

阿拉巴马州基因组健康计划 (AGHI) 是一项由国家资助的提供基因组测试的项目。 AGHI 涉及阿拉巴马州的两个不同群体。其中一组包括患有未确诊罕见病的儿童和成人；第二个包括未经选择的成年人口。在此，我们描述了首批 176 名罕见疾病和 5369 名人口队列 AGHI 参与者的研究结果。

 方法

AGHI 参与者注册了研究协议的两个分支之一，该协议提供基因组测试结果和参与生物库的机会。罕见病队列参与者接受基因组测序，以确定主要和次要发现。人群队列参与者接受基因分型，以确定可采取行动的病症的致病性和可能的​​致病性变异。

 结果

在罕见病队列中，基因组测序发现 20% 的受影响个体可能存在致病性或致病性变异。在人群中，1.5% 的人获得了阳性基因分型结果。报告的个人或家族史证实的基因分型结果的比率因基因而异。

 结论

AGHI 展示了在两种情况下提供有用健康信息的能力：罕见的未确诊疾病和人群筛查。这种实用性应该会激励人们继续探索新兴基因组技术如何造福广大人群。