HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.
School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Genet Med. 2021 Apr;23(4):777-781. doi: 10.1038/s41436-020-01034-4. Epub 2020 Nov 27.
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.
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.
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.
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.
阿拉巴马州基因组健康倡议（AGHI）是一项由州政府资助的提供基因组测试的计划。AGHI 在阿拉巴马州内有两个不同的队列。一个队列包括患有未确诊的罕见病的儿童和成年人；另一个队列包括未选择的成年人。这里我们描述了来自前 176 名罕见病和 5369 名人群队列 AGHI 参与者的发现。
AGHI 参与者参加研究方案的两个分支之一，该方案提供基因组测试结果和生物库参与的机会。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识别可采取行动的条件的致病性和可能致病性变体。
在罕见病队列中，20%的受影响个体的基因组测序确定了可能致病性或致病性变异。在人群队列中，1.5%的个体获得了阳性基因分型结果。基因分型结果与个人或家族史报告的一致性因基因而异。
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。这种实用性应该促使人们继续探索新兴基因组技术如何使广大人群受益的方法。
