Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.
Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.
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DOI：
10.3390/jpm11010049
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发表时间：
2021-01-15
影响因子：
--
通讯作者：
Abul-Husn NS
中科院分区：
文献类型：
--
作者：
Soper ER;Suckiel SA;Braganza GT;Kontorovich AR;Kenny EE;Abul-Husn NS
与遗传性转甲状腺素淀粉样变性(HATTR)相关的TTRV142I变异存在于多达4%的非裔美国人(AA)和1%的西班牙裔/拉丁裔(HL)个体中，并增加了心力衰竭的风险。延误和漏诊可能会加剧这些人群的健康差距。我们评估了基于人群的基因组筛查是否可以有效地识别hATTR的风险个体，并迅速启动风险管理。我们确定了纽约市生物群生物库的参与者，他们通过试验性基因组筛选计划获得了TTRV142I结果。我们进行了一项回顾性的病历回顾，以评估hATTR相关系统特征的存在、推荐的随访情况和短期结果。32名AA(N=17)和HL(N=15)患者接受了TTRV142I结果(中位年龄57岁，81%女性)。没有人之前被诊断为hAttr。18例(56%)有hATTR相关的全身症状，其中心力衰竭4例(13%)，腕管综合征10例(31%)，椎管狭窄10例(31%)。18人(56%)在8个月内向心脏病专家进行了随访。一人被诊断为hAttr。因此，我们发现，在结果披露时，大多数V142I阳性个体都有hATTR相关的全身特征，包括描述良好的危险信号。基因组筛查可以帮助识别hATTR风险，并在早期指导治疗，避免诊断和治疗的潜在延误。
The TTR V142I variant associated with hereditary transthyretin amyloidosis (hATTR) is present in up to 4% of African American (AA) and 1% of Hispanic/Latinx (HL) individuals and increases risk for heart failure. Delayed and missed diagnoses could potentiate health disparities in these populations. We evaluated whether population-based genomic screening could effectively identify individuals at risk for hATTR and prompt initiation of risk management. We identified participants of the BioMe Biobank in New York City who received TTR V142I results through a pilot genomic screening program. We performed a retrospective medical record review to evaluate for the presence hATTR-related systemic features, uptake of recommended follow-up, and short-term outcomes. Thirty-two AA (N = 17) and HL (N = 15) individuals received a TTR V142I result (median age 57, 81% female). None had a previous diagnosis of hATTR. Eighteen (56%) had hATTR-related systemic features, including 4 (13%) with heart failure, 10 (31%) with carpal tunnel syndrome, and 10 (31%) with spinal stenosis. Eighteen (56%) pursued follow-up with a cardiologist within 8 months. One person received a diagnosis of hATTR. Thus, we found that the majority of V142I-positive individuals had hATTR-related systemic features at the time of result disclosure, including well-described red flags. Genomic screening can help identify hATTR risk and guide management early on, avoiding potential delays in diagnosis and treatment.
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影响因子：
4.4
作者：
Hawkins PN;Ando Y;Dispenzeri A;Gonzalez-Duarte A;Adams D;Suhr OB
通讯作者：
Suhr OB
DOI：
10.1038/gim.2016.200
发表时间：
2017-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Buxbaum JN;Ruberg FL
通讯作者：
Ruberg FL
影响因子：
37.8
作者：
Gillmore, Julian D.;Maurer, Mathew S.;Hawkins, Philip N.
通讯作者：
Hawkins, Philip N.
影响因子：
120.7
作者：
Damrauer, Scott M.;Chaudhary, Kumardeep;Do, Ron
通讯作者：
Do, Ron
影响因子：
4.8
作者：
Buxbaum, Joel;Alexander, Alice;Kitzman, Dalane
通讯作者：
Kitzman, Dalane