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DNA diagnostics: personalized medicine based on genetics
DNA diagnostics is a modern method of medical genetics that allows you to detect hereditary diseases, mutations, predisposition to chronic diseases and response to drugs. This research is based on the study of individual human genetic information and is of great importance for a personalized approach in medicine.
According to Candidate of Medical Sciences Olga Sirenko:
«"A genetic test gives the doctor the key to preventing problems that have not yet had time to appear.".
What does DNA diagnostics reveal?
DNA testing can detect:
the presence of mutations responsible for hereditary diseases (cystic fibrosis, SMA, phenylketonuria);
genetic predisposition to cancer, cardiovascular, endocrine disorders;
genetic characteristics of metabolism;
individual sensitivity to drugs (pharmacogenetics);
hereditary factors of infertility;
chromosomal abnormalities of the fetus (with non-invasive prenatal diagnosis);
kinship (paternity tests, kinship, genealogy).
Indications for analysis
DNA analysis is recommended in the following cases:
the presence of hereditary diseases in the family;
suspicion of a genetic disease in a child;
pregnancy planning;
selection of therapy for chronic diseases;
oncological alertness;
establishing kinship;
unexplained symptoms that do not respond to traditional diagnosis.
As geneticist Iryna Chernenko notes:
«"In complex cases, DNA analysis doesn't just help make a diagnosis. It removes uncertainty and guides treatment.".
How is DNA analysis done?
The procedure includes several stages:
Material collection (cheek epithelium swab, saliva or venous blood).
Isolation and preparation of DNA in the laboratory.
Performing PCR, sequencing, or chipping, depending on the type of test.
Bioinformatic processing of results.
Consultation with a medical geneticist to interpret the findings.
Types of DNA diagnostics and their purpose
| Test type | Goal | Recommended | Expected result |
|---|---|---|---|
| Monogenic diagnostics | Detection of a single gene mutation | If a specific disease is suspected | Confirmation or exclusion |
| Panel testing | Gene group analysis | For complex or family illnesses | Identifying risks and combinations |
| Pharmacogenetics | Assessing response to medication | With prolonged or complex therapy | Personal selection of medications |
| NIPT | Non-invasive fetal DNA testing | During pregnancy from 10 weeks | Risks of trisomies and anomalies |
| Whole exome sequencing (WES) | Complete diagnosis of unclear conditions | In children with severe disabilities | Identification of rare mutations |
| Genealogical tests | Origin, relationship | To all who wish | Information about ethnic origin |
| PGT for IVF | Genetic analysis of the embryo | For couples undergoing IVF | Selection of healthy embryos |
What to consider
DNA analysis does not always give a definitive answer. In some cases:
the result only indicates a predisposition, not the presence of the disease;
the clinical significance of the identified mutations may be unknown;
Interpretation of results requires specialized consultation.
Geneticist Andriy Kozyr notes:
«"It's important for patients to remember that no gene acts in isolation. Context is important — lifestyle, history, environment.".
How long to wait for the result?
The duration of the test depends on the complexity of the study:
simple mutations: 5–7 days;
gene panels: up to 14 days;
whole genome sequencing: up to 4–6 weeks;
non-invasive prenatal testing: 5–8 days.
Actions after receiving the result
consult a geneticist;
if necessary, undergo additional examination;
transfer the results to a family doctor or specialist;
if necessary, examine relatives for mutation carriers;
build an action plan for risk reduction or early intervention.
