Molecular genetic testing. What is it and how can its results help patients?

Ludmila Lyubchenko, MD, Head of the Department of Molecular Genetics and Cellular Technologies at the National Medical Research Radiological Centre of the Ministry of Health of the Russian Federation, tells us.

Why is genetic testing done? What do these results give doctors and patients?

Genetic tests and their results make it possible to determine hereditary predisposition to the occurrence of malignant neoplasms of various localizations, calculate the risks of developing second primary tumors, detect the disease at an early stage, perform preventive surgical operations, prescribe targeted treatment, as well as conduct prenatal and preimplantation diagnostics for family planning and childbearing.

DNA diagnostics makes it possible to identify a risk group for the development of genetically determined cancer of the breast, ovaries, uterus, pancreas, prostate, bladder, stomach, osteogenic and soft tissue sarcomas, lymphoproliferative diseases, as well as malignant tumors in children, including as part of hereditary cancer syndromes.

A separate section of diagnostic care using molecular genetic technologies includes donor selection for patients in need of bone marrow transplantation, and others.

When, in what situations should these genetic tests be done?

There are criteria for when a patient presenting to an oncologist for the first time should be consulted by a geneticist.

First, this applies to patients of young age, patients with bilateral paired breast, kidney, or primary-multiple tumors. Those who have a family history of malignant neoplasm accumulation or a combination of malignant neoplasms of different localizations.

The doctor-geneticist appoints these patients the necessary list of molecular genetic tests so-called primary screening. These are quite simple and quick tests of blood and tumor tissue. Most of them are included in the OMC program.

If a person needs preoperative treatment, the so-called neoadjuvant therapy, the results of molecular genetic diagnostics are already at the first stage necessary for the doctor-chemotherapist to choose the treatment tactics.

There are also more specific tests for the study of mutations in genes involved in the carcinogenesis of tumors of certain localizations. In this case, we examine tumor material obtained during biopsy or surgery. The so-called molecular profile is examined, the altered genes are identified and the necessary treatment regimens are selected accordingly.

Genetic diagnosis is essential for the correct start of treatment and for its continuation in order to improve the quality and duration of life. It can help us to determine the sensitivity of a tumor to chemotherapy or radiation therapy. DNA testing identifies target points for the administration of advanced targeting and immunotherapy. When a drug is targeted to a specific target in a particular tumor. Genetic diagnosis in this case is the key to the lock.

It should be reminded that molecular genetic studies are performed at the NMRRC of the Ministry of Health of the Russian Federation to determine hereditary (germinal), somatic mutations and other genomic rearrangements in patients and their family members. Consultation of specialists is carried out by appointment through the contact center 8 495 150-11-22, 8 499 110-40-67, 8 800 250-87-00.