Effectiveness of the preventive intervention of chromosomal disorders of Iran's community genetics program: Application of bayesian network

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.