遗传性听力损失的单基因与多基因检测：商业保险队列中的使用和费用。

Single Versus Multigene Testing for Hereditary Hearing Loss: Use and Costs in a Commercially Insured Cohort.

机构信息

Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.

Department of Pediatrics-Medical Genetics, Stanford University School of Medicine, California, USA.

出版信息

Otolaryngol Head Neck Surg. 2023 Jun;168(6):1472-1476. doi: 10.1002/ohn.204. Epub 2023 Jan 22.

DOI:10.1002/ohn.204

PMID:36939467

Abstract

OBJECTIVE

The objectives of this study were to describe trends in single-gene GJB2/6 (connexin 26/30) and multigene hearing loss panel (HLP) testing for hereditary hearing loss using real-world evidence.

STUDY DESIGN

Retrospective study using insurance claims data.

SETTING

Optum Data Mart database from 2015 to 2020.

METHODS

Rates of overall and hearing-specific genetic testing and costs to insurers and patients were reported. Linear regression models were used to assess the proportion of single-gene GJB2/6 testing over time. Additional linear regression models were used to assess changes in costs over time.

RESULTS

From 2015 to 2020, 91,986 children received genetic testing for any indication, of which 601 (0.65%) received hearing-specific tests. The proportion of single-gene GJB2/6 testing remained similar over time (mean difference [MD]: -1.3% per year; 95% confidence interval [CI]: -4.3%, 1.7%), while multigene HLP use increased over time (MD: 4.0% per year; 95% CI: 0.4%, 7.5%). The median charge for single-gene GJB2/6 testing remained constant during the study period (MD: -$34; 95% CI: -$86, $18), while the median charge for multigene HLP decreased during the study period (MD: -$145 per year; 95% CI: -$278, -$12).

CONCLUSION

Compared to molecular testing for GJB2/6, HLPs are becoming more common for hereditary hearing loss. The comprehensiveness of HLP and decreasing costs provide justification for its more widespread adoption moving forward.

摘要

目的

本研究旨在利用真实世界的数据描述 GJB2/6（连接蛋白 26/30）单基因和多基因听力损失panel（HLP）检测遗传性听力损失的趋势。

研究设计

使用保险索赔数据的回顾性研究。

设置

Optum Data Mart 数据库，时间范围为 2015 年至 2020 年。

方法

报告总体和听力特异性基因检测的比率以及保险公司和患者的成本。线性回归模型用于评估随时间推移单基因 GJB2/6 检测的比例。另外使用线性回归模型评估随时间推移成本的变化。

结果

从 2015 年至 2020 年，91986 名儿童因任何原因接受了遗传检测，其中 601 名（0.65%）接受了听力特异性检测。随时间推移，单基因 GJB2/6 检测的比例保持相似（平均差异[MD]：每年减少 1.3%；95%置信区间[CI]：-4.3%，1.7%），而多基因 HLP 的使用随时间推移而增加（MD：每年增加 4.0%；95% CI：0.4%，7.5%）。在研究期间，单基因 GJB2/6 检测的中位数收费保持不变（MD：-34 美元；95% CI：-86 美元，18 美元），而多基因 HLP 的中位数收费在研究期间下降（MD：每年减少 145 美元；95% CI：-278 美元，-12 美元）。