Genetic examination: goals, methods and applications in medicine and law
What is genetic testing?
Genetic testing is scientifically based DNA research for the purpose of identifying a person, establishing family relationships or identifying genetic changes associated with diseases. It is carried out both for medical purposes (diagnosis of hereditary diseases, oncology) and in a legal context (in criminal and civil cases).
This type of research is based on the analysis of unique sections of DNA that remain stable throughout a person's life.
Main areas of use
Medical genetics: detection of mutations associated with hereditary diseases (e.g. Down syndrome, cystic fibrosis, Huntington's disease).
Oncogenetics: determining the risk of developing breast, ovarian, and colon cancer (BRCA1/2, APC).
Prenatal diagnosis: testing fetal DNA for chromosomal abnormalities.
Pharmacogenetics: drug interaction analysis taking into account genetic characteristics patient.
Forensic examination: establishing paternity, personal identification, researching DNA traces at a crime scene.
Methods of conducting genetic examination
| Method | Appointment | Sensitivity |
|---|---|---|
| PCR (polymerase chain reaction) | Rapid detection of specific mutations | High |
| DNA sequencing | Complete decoding of the genetic code | Very high |
| STR analysis | Comparison of short repeats for identification | High |
| Microchips (DNA microchips) | Mass screening of known mutations | Medium – high |
Procedure for conducting an examination
Biomaterial collection — most often samples of saliva, blood, hair, or cheek epithelium are used.
DNA isolation — genetic material is purified in laboratory conditions.
Analysis — apply appropriate methods according to the purpose (medical, judicial or other request).
Interpretation of results — preparation of the conclusion, if necessary, with the participation of a medical genetic consultant.
Application examples
Family matters: in cases of establishing paternity, genetic examination allows determining kinship with an accuracy of over 99.99%.
Oncology surveillance: In women with a family history of breast cancer, the BRCA1 test helped identify risk and take preventive measures early.
Prenatal diagnosis: NIPT (non-invasive prenatal testing) at 10 weeks of pregnancy helped rule out Edwards syndrome in the fetus without intervention in the womb.
Regulatory regulation
In Ukraine, genetic testing is regulated by a number of regulatory acts:
The Civil Procedure Code of Ukraine (Articles 145–147),
The Law "On Health Protection" regarding the mandatory nature of informed consent,
The Law "On the Protection of Personal Data".
Important: the results of such research are confidential and can only be used with the written consent of the individual or in accordance with a court decision.
Is it worth doing genetic testing?
It depends on the goal: if there are cases of severe hereditary diseases in the family, if you are planning a pregnancy or have doubts about kinship - this is a tool for an informed decision. Doctors also prescribe genetic diagnostics when other methods do not provide a clear answer.
Genetic testing has become a routine part of modern medicine. It not only helps to make an accurate diagnosis, but also allows you to predict diseases long before symptoms appear, which opens the way to prevention and personalized therapy.
Highly qualified cytomorphologist with over 45 years of experience. For 33 years, she headed the cytology laboratory of the regional oncology clinic. Expert in early diagnosis of malignant neoplasms at Medi Lab Plus LLC. More details…