Psychosocial, ethical, legal and economic aspects of genetic screening for the carriage of variants that cause the development of monogenic recessive diseases

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Mental health protection in the primary health care: medico-social effectiveness. Russian Journal of Preventive Medicine. 2024;(10):29-35

Genetic screening for the carriage of variants that cause the development of recessive diseases is an important component of pre-conception and prenatal prophylaxis which helps to reduce the burden of hereditary diseases in the population. However, some aspects of genetic screening can lead to serious problems such as changes in the perception of one’s health when carriage is detected, stigmatization, discrimination, etc. In Russia as in many other countries one of the problems is the extremely low awareness of the existence of such screening not only among the population but also among doctors who could offer potential parents to undergo a genetic test. Genetic carrier screening raises new privacy issues. The article provides a review of the literature which reflects the most frequent psychosocial, legal, ethical, and economic problems that the healthcare system faces when introducing genetic screening for heterozygous carriage of variants that cause the development of monogenic recessive diseases.

Keywords:

carrier genetic screening

ethics

stigma

screening awareness

confidentiality

economic costs

Authors:

Revazyan K.Z.

National Medical Research Center for Therapy and Preventive Medicine

Meshkov A.N.

National Medical Research Center for Therapy and Preventive Medicine

Ershova A.I.

National Medical Research Center for Therapy and Preventive Medicine

Sivakova O.V.

National Medical Research Center for Therapy and Preventive Medicine

Drapkina O.M.

National Medical Research Center for Therapy and Preventive Medicine;
A.I. Yevdokimov Moscow State University of Medicine and Dentistry

SPIN RSCI: 4456-1297
Scopus AuthorID: 57208852308
ResearcherID: G-8443-2016
ORCID: 0000-0002-4453-8430

Received:

24.05.2020

Accepted:

21.08.2020

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