Genetics is a branch of medicine concerned with the study of inheritance and changes in human genetic material. It encompasses the diagnosis of genetically determined diseases, the assessment of the risk of their occurrence, and the identification of mutations that may affect the health of the patient and their offspring. Medical genetics plays a key role in prevention, prenatal diagnosis, family planning and the treatment of many rare and oncological diseases.
The consultation enables the diagnosis of genetic mutations responsible for hereditary diseases and an assessment of the risk of these diseases occurring in family members.
Analysis of genes associated with a hereditary risk of developing cancers, including breast, ovarian and colorectal cancer. Based on the results obtained, a specialist draws up a personalised prevention plan and determines the recommended frequency of follow-up tests.
The aim of diagnostic testing is to identify abnormalities in genetic material that lead to developmental disorders, congenital defects or metabolic disorders.
It involves the interpretation of screening and diagnostic tests for chromosomal aberrations and genetic abnormalities in the foetus.
It involves assessing detected mutations or chromosomal changes in the context of clinical symptoms and determining their clinical significance.
Diagnostic testing involves analysing the karyotypes of both parents and examining material from a miscarriage, which enables the identification of any possible genetic causes of pregnancy loss. Genetic testing of embryos – This involves assessing the genetic material of embryos created through in vitro fertilisation for chromosomal abnormalities and hereditary disorders.
Cytogenetic testing
CLARA – Genetic Disease Carrier Panel
Pre-implantation genetic testing (PGT)
Invasive prenatal testing
Karyotype
NIPT
Panel – contraception and HRT
Panel – cardiovascular diseases
Panel – male infertility
Panel – female infertility
Panel – recurrent miscarriages
Comprehensive cancer predisposition panel (73 genes) – enables the detection of, amongst others, breast/ovarian, kidney, gastrointestinal, bowel, endometrial, lung, prostate, thyroid, pancreatic and stomach cancers, as well as endocrine tumours and melanoma
Detection of gene mutations
A genetic consultation begins with a detailed family and medical history. The geneticist analyses the family’s medical history, previous test results and the patient’s symptoms. On this basis, they may recommend genetic testing or discuss results that have already been obtained, explaining their significance and possible health implications.
The first consultation usually lasts up to 30 minutes – this is the time needed to review your medical records and discuss the reasons for the tests. Follow-up appointments are shorter and last around 15–20 minutes, depending on the complexity of the case.
It is worth consulting a geneticist if there is a family history of hereditary conditions, miscarriages, fertility problems or birth defects, or if you are planning to become pregnant later in life. A consultation is also recommended before starting in vitro fertilisation or following abnormal results from prenatal tests.
No. Most genetic tests are completely painless. The sample used for analysis is usually a blood or saliva sample, collected in a simple and non-invasive manner.
Yes. A geneticist also diagnoses children, particularly where congenital conditions, developmental disorders, autism, growth retardation or abnormal screening results are suspected.
Not all genetic disorders are fully curable, but thanks to modern diagnostic methods and treatments, it is possible to effectively alleviate symptoms, improve quality of life and prevent complications.
Regular consultations are not necessary for everyone, but they are recommended for people with confirmed genetic mutations, those planning to have children, or those receiving cancer care. Follow-up appointments help to monitor a patient’s health and tailor preventive care to their individual needs.
