Department of Population Medicine, Harvard Medical School, Boston, MA; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Genet Med. 2023 Apr;25(4):100797. doi: 10.1016/j.gim.2023.100797. Epub 2023 Jan 31.
Population newborn genetic screening for hypertrophic cardiomyopathy (HCM) is feasible, however its benefits, harms, and cost-effectiveness are uncertain.
We developed a microsimulation model to simulate a US birth cohort of 3.7 million newborns. Those identified with pathogenic/likely pathogenic variants associated with increased risk of HCM underwent surveillance and recommended treatment, whereas in usual care, individuals with family histories of HCM underwent surveillance.
In a cohort of 3.7 million newborns, newborn genetic screening would reduce HCM-related deaths through age 20 years by 44 (95% uncertainty interval [UI] = 10-103) however increase the numbers of children undergoing surveillance by 8127 (95% UI = 6308-9664). Compared with usual care, newborn genetic screening costs $267,000 per life year saved (95% UI, $106,000 to $919,000 per life year saved).
Newborn genetic screening for HCM could prevent deaths but at a high cost and would require many healthy children to undergo surveillance. This study shows how modeling can provide insights into the tradeoffs between benefits and costs that will need to be considered as newborn genetic screening is more widely adopted.
对肥厚型心肌病（HCM）进行人群新生儿基因筛查是可行的，但其益处、危害和成本效益尚不确定。
我们开发了一个微观模拟模型来模拟一个 370 万新生儿的美国出生队列。那些具有致病性/可能致病性变异的个体与 HCM 风险增加相关，需要进行监测和推荐治疗，而在常规护理中，有 HCM 家族史的个体进行监测。
在 370 万新生儿队列中，新生儿基因筛查可将 20 岁前与 HCM 相关的死亡人数减少 44 人（95%不确定区间[UI]为 10-103），但会增加 8127 名接受监测的儿童人数（95%UI 为 6308-9664）。与常规护理相比，新生儿基因筛查每挽救一个生命年的成本为 26.7 万美元（95%UI，每挽救一个生命年的成本为 10.6 万至 91.9 万美元）。
HCM 的新生儿基因筛查可以预防死亡，但代价高昂，而且需要对许多健康儿童进行监测。本研究表明，建模如何提供有关效益和成本之间权衡的见解，这将需要考虑随着新生儿基因筛查的更广泛采用。
