oncological diseases (BRCA1\/BRCA2<\/a>, Lynch syndrome)<\/p>\n<\/li>\n cardiovascular pathologies (hereditary hypercholesterolemia)<\/p>\n<\/li>\n thrombophilias<\/p>\n<\/li>\n autoimmune disorders<\/p>\n<\/li>\n hereditary metabolic syndromes<\/p>\n<\/li>\n<\/ul>\n Identification of a pathogenic gene variant allows us to assess the need for regular screening or lifestyle changes.<\/p>\n Genetic testing is especially recommended in cases of:<\/p>\n several cases of the same oncopathology in the family<\/p>\n<\/li>\n early heart attack or stroke in close relatives<\/p>\n<\/li>\n repeated thrombosis<\/p>\n<\/li>\n suspicion of hereditary syndromes<\/p>\n<\/li>\n<\/ul>\n According to Mayo Clinic<\/span><\/span>, genetic counseling before testing helps to choose the optimal research panel.<\/p>\n Genetic risk testing can be done using various methods:<\/p>\n analysis of individual genes<\/p>\n<\/li>\n multigene panels<\/p>\n<\/li>\n next-generation sequencing (NGS<\/a>)<\/p>\n<\/li>\n exome research<\/p>\n<\/li>\n<\/ul>\n NGS technology allows for the simultaneous analysis of dozens or hundreds of genes, which increases diagnostic accuracy.<\/p>\n A positive result does not mean that the disease will necessarily develop. It indicates an increased risk that may or may not be realized depending on lifestyle, environmental factors, and medical monitoring.<\/p>\n The results are usually divided into:<\/p>\n absence of clinically significant mutations<\/p>\n<\/li>\n detection of a pathogenic variant<\/p>\n<\/li>\n variant of undefined value<\/p>\n<\/li>\n<\/ul>\n Interpretation should be carried out exclusively by a geneticist.<\/p>\n Genetic risk screening allows you to:<\/p>\n determine the frequency of preventive examinations<\/p>\n<\/li>\n adjust nutrition and physical activity<\/p>\n<\/li>\n control the level cholesterol<\/a> or glucose<\/p>\n<\/li>\n plan pregnancy taking into account hereditary factors<\/p>\n<\/li>\n<\/ul>\n Genetic information is stable throughout life, so testing is usually done once.<\/p>\n Despite high technology, genetic tests have limitations:<\/p>\n not all mutations have been fully studied<\/p>\n<\/li>\n not every genetic change has clinical significance<\/p>\n<\/li>\n risk does not equal diagnosis<\/p>\n<\/li>\n<\/ul>\n It is important to combine genetic testing results with clinical data and other laboratory studies.<\/p>\n Today, genetic risk testing is becoming part of preventive medicine. Instead of reacting to an already developed disease, doctors are given the opportunity to act proactively.<\/p>\n This approach allows you to reduce the likelihood of complications and start monitoring your health status in a timely manner.<\/p>\n people with a family history of cancer<\/p>\n<\/li>\n patients with cardiovascular diseases at a young age<\/p>\n<\/li>\n for couples planning to have children<\/p>\n<\/li>\n individuals with undetermined hereditary symptoms<\/p>\n<\/li>\n<\/ul>\n Genetic risk testing is a tool that allows you to better understand your own body. It does not diagnose, but it helps to predict potential risks and form an individual prevention strategy.<\/p>\nWhen family history is a signal for examination<\/h2>\n
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From a single gene to the whole exome: modern testing technologies<\/h2>\n
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What does a \u00abpositive\u00bb genetic result mean?<\/h2>\n
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<\/h2>\nGenetics and prevention: how the results affect life<\/h2>\n
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The limits of DNA analysis<\/h2>\n
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Personalized medicine<\/a>: a new approach to prevention<\/h2>\n
Who should consider a genetic test today?<\/h2>\n
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