THE PRINCIPLES OF PREDICTIVE GENETIC TESTING AND SCREENING IN THE CONCEPT OF PERSONALIZED MEDICINE

DOI: https://doi.org/10.29296/24999490-2020-06-01

N.N. Belushkina, M.A. Paltsev Lomonosov Moscow State University, Faculty of Biology, Leninskie Gory, 1–12, Moscow, 119991, Russian Federation E-mail: [email protected]

The review discusses the principles of predictive genetic testing and screening in the concept of personalized medicine. The criteria for screening developed by WHO in 1968, as well as modern supplemented and refined criteria for genetic testing for multifactorial diseases are presented. The methodology of the evaluation of genetic tests on analytical and clinical reliability, clinical significance, and ethical, legal, and social consequences is considered. The approaches of international organizations involved in the assessment of health technologies, including genetic tests, are demonstrated. The currently predictive genetic testing of multifactorial diseases is noted to be promising for diseases whose pathogenesis is associated with single genes that obey the Mendelian laws of inheritance. In this case, predictive genetic testing is of interest Принципы предиктивного генетического тестирования и скрининга... in terms of prevention of the disease, individual treatment, and disease prognosis. When considering the introduction of predictive genetic testing in the public health system, along with clinical and cost-effectiveness, public health risks should be taken into account. The benefits of genetic testing as a personalized health care service should prevail over the risks associated with it. The development of the methodology for assessing and predicting the risks associated with predictive genetic testing, as well as improving the methods of managing risks, will achieve the main goal – to improve the efficiency of the health system.
Keywords: 
genetic testing, screening, personalized medicine, multifactorial diseases, public health risk

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