Azimi Seyyedeh Sara, Samavat Sama Ashraf, Rezaei Tabar Vahid, Soori Hamid
Department of Epidemiology, School of Public Health and Safety, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Genetics Office, Noncommunicable Disease Management Centre, Ministry of Health and Medical Education, Tehran, Iran.
Med J Islam Repub Iran. 2021 Oct 11;35:132. doi: 10.47176/mjiri.35.132. eCollection 2021.
Evidence-based policymaking for the genetic preventive interventions at the community level requires information on the effectiveness of interventions in the operational areas taking into account the characteristics of health system and customer behaviour. These information are limited in many low- and middle-income countries. In this study, we estimated the effectiveness of preventive interventions for chromosomal disorders using the conceptual framework of Iran's community genetics program (ICGP) using a Bayesian Network as a modeling method in limited access situation to the complete and accurate observational data. Expert elicitation method based on global and national scientific evidences was applied to determine the structure of the Bayesian Network (BN) and to quantify the probability of nodes. The nomological and face validity of the network was checked. Also, a sensitivity analysis against the sources of uncertainty of probabilities was conducted. By ICGP interventions, 63% (95% CI, 0.55-0.71) of all chromosomal disorders can be prevented, which is responsible for 80% (95% CI, 0.76-0.84) and 38% (95% CI, 0.31-0.45) reduction of expected baseline birth prevalence of trisomis and other autosomal disorders, respectively. Improving the access to and the uptake of screening service can also result in a 12% and 11% increase in effectiveness, respectively. Effectiveness of ICGP's intervention is between the same interventions' effectiveness in Western Europe and the Eastern Mediterranean region. Opportunities for increasing the uptake of and the access to the interventions are strengthening the public genetic literacy and implantation of a system of laboratory sample transfer at the side of the utilization of telehealth for delivering the counseling services at remote areas.
在社区层面进行基于证据的基因预防干预决策，需要考虑卫生系统和客户行为特征，了解干预措施在实际操作领域的效果。在许多低收入和中等收入国家，这类信息十分有限。在本研究中，我们使用伊朗社区遗传学项目（ICGP）的概念框架，通过贝叶斯网络作为建模方法，在难以获取完整准确观测数据的情况下，估算了针对染色体疾病的预防干预效果。基于全球和国家科学证据的专家意见征集方法，被用于确定贝叶斯网络（BN）的结构并量化节点概率。我们检查了该网络的理论有效性和表面效度。此外，还针对概率的不确定性来源进行了敏感性分析。通过ICGP干预措施，所有染色体疾病中有63%（95%置信区间，0.55 - 0.71）可被预防，这分别导致三体性疾病和其他常染色体疾病预期基线出生患病率降低80%（95%置信区间，0.76 - 0.84）和38%（95%置信区间，0.31 - 0.45）。改善筛查服务的可及性和利用率，还可分别使有效性提高12%和11%。ICGP干预措施的有效性介于西欧和东地中海地区相同干预措施的有效性之间。提高干预措施的利用率和可及性的机会在于，加强公众的基因知识素养，并在利用远程医疗在偏远地区提供咨询服务的同时，建立实验室样本转运系统。
