Impacts of genomics on the health and social costs of intellectual disability
Impacts of genomics on the health and social costs of intellectual disability
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DOI：
10.1136/jmedgenet-2019-106445
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发表时间：
2020-07-01
影响因子：
4
通讯作者：
Roscioli, Tony
中科院分区：
文献类型：
--
作者：
Doble, Brett;Schofield, Deborah;Roscioli, Tony
本研究对基因组测序检测导致智力残疾的单基因疾病（ID）的经济和社会影响进行了综合评估。方法对多个知识库进行交叉引用和分析，编制与ID相关的单基因疾病参考文献清单。使用多种文献检索来量化照顾身份证患者的健康和社会成本。将健康和社会支出以及全外显子组测序和全基因组测序的当前成本与更常见的ID原因及其对寿命的影响进行了量化。结果：患有精神分裂症的个人平均每年在医疗费用、残疾支助、收入损失和其他社会成本方面的费用为17.2万美元，在一生中累积到数百万美元。结论通过基因组检测诊断单基因疾病提供了改善诊断和管理的机会，并通过知情的生殖决策，减少非生产性诊断测试和越来越有针对性的治疗来降低ID的成本。
Background This study provides an integrated assessment of the economic and social impacts of genomic sequencing for the detection of monogenic disorders resulting in intellectual disability (ID). Methods Multiple knowledge bases were cross-referenced and analysed to compile a reference list of monogenic disorders associated with ID. Multiple literature searches were used to quantify the health and social costs for the care of people with ID. Health and social expenditures and the current cost of whole-exome sequencing and whole-genome sequencing were quantified in relation to the more common causes of ID and their impact on lifespan. Results On average, individuals with ID incur annual costs in terms of health costs, disability support, lost income and other social costs of US$172 000, accumulating to many millions of dollars over a lifetime. Conclusion The diagnosis of monogenic disorders through genomic testing provides the opportunity to improve the diagnosis and management, and to reduce the costs of ID through informed reproductive decisions, reductions in unproductive diagnostic tests and increasingly targeted therapies.