MOSCOW, October 16 - RIA Novosti. The Committee on Mass Screening of Newborns, which would determine the diseases for mandatory and recommended examination, must be created in Russia, believes Ekaterina Zakharova, the head of the laboratory of hereditary metabolic diseases at the Bochkov Medical Genetic Research Center.
"We have not created a regulatory document on this topic. We need a committee for mass screening of newborns in the Russian Federation, which would make decisions on which diseases must be screened, which are desirable to be screened, and diseases for which there are certain restrictions that are not so necessary to make in screening, "Zakharova said at the All-Russian multimedia conference" Bioethics and Genetics: Challenges of the XXI Century "at the press center of the MIA" Russia Today ".
In addition, the expert considers it necessary to address the issue of informing about the screening procedure for both the general population and those families who are only planning it, with the subsequent mandatory consultation of geneticists in particular. Among the advantages of screening, the expert noted early diagnosis and timely treatment started, which, in turn, improves the prognosis of the patient's life and health. In addition, the family will be informed about the risks of re-birth of a sick child, the expert said.
Among the negative consequences of screening, Zakharova named the human factor and the stigmatization of diseases: refusal to test for other diseases with a negative result for one disease, psychological stress of parents when a child is found to have abnormalities, fear of disclosing genetic information, and others. It is important to discuss the issue of finalizing the screening criteria in the Russian Federation, the expert noted.
The question is, shouldn't the screening criteria be changed? Should this testing be carried out taking into account only the interests of the child, or should the interests and families already be taken into account? The family can also get some benefit from testing if we identify the carriage of some diseases.