Doble Brett, Schofield Deborah, Evans Carey-Anne, Groza Tudor, Mattick John S, Field Mike, Roscioli Tony
Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
Programme in Health Services and Systems Research, Duke-NUS Medical School, Singapore.
J Med Genet. 2020 Jul;57(7):479-486. doi: 10.1136/jmedgenet-2019-106445. Epub 2020 Jan 24.
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).
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.
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.
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.
本研究对基因组测序在检测导致智力残疾（ID）的单基因疾病方面的经济和社会影响进行了综合评估。
交叉引用并分析多个知识库，以编制与ID相关的单基因疾病参考列表。通过多次文献检索来量化照顾ID患者的健康和社会成本。针对ID的更常见病因及其对寿命的影响，对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进行了量化。
平均而言，ID患者每年在健康成本、残疾支持、收入损失和其他社会成本方面产生17.2万美元的费用，一生累计达数百万美元。
通过基因组检测诊断单基因疾病为改善诊断和管理提供了机会，并通过明智的生殖决策、减少非生产性诊断测试以及采用越来越有针对性的治疗方法来降低ID的成本。
