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颜林林
(2022-09-26 23:20):
#paper doi:10.1002/ajmg.a.62974 American Journal of Medical Genetics, 2022, Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort. 这篇来自新加坡的文章，回顾了一家三级医院从2004到2020年的患者数据，调取其做过遗传检测且有相应计费数据的病例，最终筛选出近百例罕见病患者，覆盖GDD（全身发育迟缓）、MCA（多发性先天异常）、NMD（神经肌肉疾病）和 PID（原发性免疫缺陷）四种遗传疾病。根据他们病历中记录的所做检测内容，结合医疗常规实践路径规范，评价按照规范依次进行多种不同检测、对比合理去掉其中一个或多个检测项目，直至只留下最终采取全外显子组测序（WES）的策略。分别进行经济学和检测准确性方面的评估，由此给出一些实践建议。虽然病例收集时间跨度长，但最终可用病例数仍然有限，其结果价值也因此受到影响。不过该文章思路挺值得学习的，对于推动将WES或WGS（全基因组测序）提升至一线或早期的诊断方法，是一个合理且有说服力的策略。若在中国这样一个人口基数大的国家，建设并长期详细记录诊疗数据，用于此类回顾研究的开展，将是价值更加巨大的。
Abstract:
Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the …
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Children with genetic diseases endure a prolonged and costly "diagnostic odyssey." The use of whole exome sequencing (WES) and whole genome sequencing (WGS) has improved the diagnosis rate, ending the odyssey. However, the additional costs associated WES/WGS has impeded their adoption in Asian settings. We aim to estimate the expected change to the mean number of diagnostic tests used, and the associated costs from a decision to use WES early in the diagnostic pathways of pediatric phenotypes, as compared to Existing Practice. Retrospective data from a patient cohort recruited under the Singapore Undiagnosed Disease Program from a tertiary hospital in Singapore, for the period October 2004 to September 2020, was analyzed. Four phenotype-specific subgroups were used: multiple congenital anomalies (MCA) without developmental delay; global developmental delay (GDD); neuromuscular disorder (NMD) and primary immunodeficiency disorder (PID). Patients had undergone a traditional diagnostic pathway and received a diagnosis either through clinical exome or WES or WGS. A costs only analysis was performed, by tabulating the outcomes "test quantity" and "test costs" incurred by patients. The outcomes were compared with alternate diagnostic pathways which incorporates the early introduction of WES trio testing. To include uncertainty in cost outcomes, simulation studies were done on uncertain parameters. Cost outcomes are reported in Singapore dollars (S$). The 92 included patients had MCA (n = 48), GDD (n = 29), NMD (n = 10), or PID (n = 5). Patients were aged between 18 days and 26 years, 52.2% were males. The majority were of Chinese ethnicity (81.5%). If patients had access to WES directly, test quantity reduced by 97.38% for MCA, 96.98% for GDD, 96.56% for NMD, and 99.84% for PID. The expected cost savings per patient were $5940 for MCA (US$4433), $5342 for GDD (US$3986), $4622 for NMD (US$3449), and $58,497 for PID (US$43,654). Uncertainty assessment for MCA and GDD patients showed a respective likelihood of 86.9% and 97.4% for cost savings. Adoption of alternate diagnostic pathways with early WES in selected pediatric subgroups are likelt to reduce costs, when compared to Existing Practice. Benefits arising from earlier diagnosis, and the potential cost savings could mitigate the large initial cost of implementing WES in Asian settings.
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