Assessing the Impact of Patient Characteristics on Genetic Clinical Pathways: A Regression Approach

Algorithms Pub Date : 2024-02-07 DOI:10.3390/a17020075
Stefano Alderighi, Paolo Landa, E. Tànfani, A. Testi
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Abstract

Molecular genetic techniques allow for the diagnosing of hereditary diseases and congenital abnormalities prenatally. A high variability of treatments exists, engendering an inappropriate clinical response, an inefficient use of resources, and the violation of the principle of the equality of treatment for equal needs. The proposed framework is based on modeling clinical pathways that contribute to identifying major causes of variability in treatments justified by the clinical needs’ variability as well as depending on individual characteristics. An electronic data collection method for high-risk pregnant women addressing genetic facilities and laboratories was implemented. The collected data were analyzed retrospectively with two aims. The first is to identify how the whole activity of genetic services can be broken down into different clinical pathways. This was performed by building a flow chart with the help of doctors. The second aim consists of measuring the variability, within and among, the different paths due to individual characteristics. A set of statistical models was developed to determine the impact of the patient characteristics on the clinical pathway and its length. The results show the importance of considering these characteristics together with the clinical information to define the care pathway and the use of resources.
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评估患者特征对遗传临床路径的影响:回归方法
分子遗传技术可以对遗传性疾病和先天性畸形进行产前诊断。治疗方法存在很大的差异,导致不恰当的临床反应、资源的低效利用以及违反同等需求同等治疗的原则。所提出的框架以临床路径建模为基础,有助于找出因临床需求变化和个体特征不同而导致治疗方法变化的主要原因。针对遗传设施和实验室的高危孕妇实施了电子数据收集方法。对收集到的数据进行了回顾性分析,目的有两个。首先是确定如何将整个遗传服务活动细分为不同的临床路径。为此,我们在医生的帮助下绘制了一张流程图。第二个目的是测量不同路径内部和之间因个体特征而产生的可变性。我们建立了一套统计模型,以确定患者特征对临床路径及其长度的影响。结果表明,在确定护理路径和资源使用时,必须将这些特征与临床信息结合起来考虑。
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