A MODEL FOR ASSESSING MEDICAL EFFICACY AND COST EFFECTIVENESS OF EARLY DETECTION OF HEREDITARY CANCER USING WHOLEGENOME AND TARGETED GENETIC TESTING
Authors:   National Research University «Higher School of Economics» (HSE University), Moscow, Russia, Kolosnitsyna Marina , Makarova Maria ,   Evogen Limited Liability Company, Moscow, Russia, Vladimirskaya Anastasia ,   National Research University «Higher School of Economics» (HSE University), Moscow, Russia, Chernevskiy Denis ,   Evogen Limited Liability Company, Moscow, Russia, Sagaydak Olesya ,   Evogen Limited Liability Company, Moscow, Russia, Patrushev Mikhail ,   Evogen Limited Liability Company, Moscow, Russia, Dorofeev Andrey ,   Health Department of the Yamalo-Nenets Autonomous Okrug, Salekhard, Russia
Published: January 2024

Significance. Malignant neoplasms can be associated with genetic predisposition. Identification of clinically significant mutations enables to determine the risk of neoplasms of other localizations in patients and their relatives. Besides, diagnosis of oncological diseases at an early stage increases the treatment success. One of the objectives of the genetic diagnostics is to reduce the malignant neoplasms associated incidence and mortality in families with a high hereditary risk, thus reducing financial burden of patients and the state. The purpose of the study is to develop a model for assessing medical efficacy and cost effectiveness of early diagnosis of malignant neoplasms based on whole-genome and targeted testing. Material and Methods. To develop a model for assessing medical efficacy and cost effectiveness, the authors used data of the study "Development of a personalized approach in providing medical care to persons with hereditary forms of malignant neoplasms in the Yamalo-Nenets Autonomous Okrug" as well as official data of the Federal State Statistics Service, Pension Fund of Russia, Territorial Compulsory Health Insurance Fund of the Yamalo-Nenets Autonomous Okrug and the Ministry of Economic Development of the Russian Federation. To assess medical efficacy and cost effectiveness, a standard method of cost-benefit analysis was applied to compare social costs in case of genetic testing (whole genome and targeted sequencing) of patients and their relatives and social costs without genetic testing. Results. The use of whole genome and targeted genetic testing in the sample of 200 patients with diagnosed malignant neoplasms, provided the survival of the study participants and their relatives up to retirement age with due regard to demographic indicators, makes it possible to save 1 billion rubles (the cumulative social effect over a 20–year period with the average age of 40 years for patients with pathogenic genetic variants), primarily by reducing mortality. Conclusions. Despite high initial costs of genetic testing, it allows to detect malignant neoplasms at an early stage, which is especially effective for relatives of patients. In the long term, the expenses are more than covered by both saving costs associated with cancer treatment at a late stage, social payments, and other disability benefits, and preserving human capital, especially the labor function of patients.