Frequently asked questions

Genetic cancer testing is a type of medical testing that analyzes certain human genes to identify abnormalities/pathogenic genetic variants. These disorders are often the root cause of tumor development and/or are associated with the therapeutic effect (sensitivity/resistance) to anticancer drugs. Also, changes in certain genes can increase the risk of developing cancer.

Genetic variant is a modern term instead of the more familiar but outdated term "mutation". Genetic variants are all sections of DNA and RNA that distinguish the genome of a given person from the reference genome — the average standardized human genome. Genetic variants range from pathogenic, likely pathogenic, of unknown significance (VUS), likely benign, and benign. Pathogenic, clinically significant variants lead to the disease.

Next-generation sequencing (NGS) is a method of genetic analysis that allows you to "read" the sequences of multiple DNA fragments in parallel, which provides high information content at a relatively high speed. Using the NGS method, you can simultaneously evaluate a wide range of disorders in DNA and RNA molecules and read both the entire genome or exome sequence and several specific genes.

Currently, NGS is considered the most effective method for searching for genetic disorders occurring in tumors. Read more about the NGS method here.

• obtaining material, determining the number of tumor cells/genetic material, and evaluating its quality
• preparation of DNA/RNA libraries
• next-generation sequencing/NGS
• analysis and interpretation of the obtained data

It depends on the research focus. If the goal is to select therapy for a patient and determine the tumor molecular profile, histological specimens and corresponding FFPE blocks (biopsy or surgical material, with preference for surgical material) are suitable, as well as cytological material/slides.

If the goal is to determine genetic predisposition to cancer, venous blood is required.

More details about material requirements can be found here.

Metastatic material (and/or the most recently collected material) is preferred for cancer genetic testing.

It is possible. For certain cancer types and in cases where traditional biopsy is impossible, Liquid Biopsy can be used — when the testing is conducted on the genetic material of the tumor cells obtained from the patient’s blood plasma.

More information about First Genetics’ Liquid Biopsy research can be found here.

Depending on the type of study/service, the time frame varies from 10 to 35 business days.

Our studies include analysis of 15 to 161 genes (DNA and RNA analysis). Such studies involve higher material requirements and larger amounts of data that take time to evaluate and interpret.

No, it is impossible to estimate this probability. However, the First Genetics Lab’s gene panels/services include the most "useful" genes for this type of tumor. Genes were selected based on assessing the population frequencies of pathogenic changes/variants for a particular type of cancer and their therapeutic effect.

Also, we can’t exclude a "mass effect" — the more genes are analyzed, the more likely it is to detect genetic alterations. BUT! These can be pathogenic variants and/or benign variants, and/or variants of unknown significance (VUS).

The NGS results interpretation report is not a diagnosis/indication for prescribing therapy. To interpret the results specified in the report, it is necessary to:

• consultation with an oncologist/chemotherapist — in case of questions about prescribing drug therapy;
• consultation with a clinical geneticist — in case of diagnosis issues and hereditary predisposition to cancer.

No, genetic testing cannot predict whether a person will have a cancer/tumor. Genetic testing provides information about the hereditary risk of developing certain types of cancer in an individual but does not guarantee the occurrence or absence of cancer. Combining genetic testing results with regular check-ups and constant dynamic observation of the attending physician is extremely important.

Yes, First Genetics has experienced geneticists on staff who can help interpret results, provide personalized advice on a person’s genetic/family history, and answer questions during and after genetic testing if needed.

The "Hereditary predisposition to cancer" service already includes a consultation with a geneticist based on the test results. Other services of a geneticist are paid separately.

Although genetic testing is generally considered safe, there are a number of risks and limitations that you should be aware of. These include the possibility of obtaining inconclusive/uninformative results, the psychological impact of information about an increased risk of developing cancer.

First Genetics Laboratory places the highest priority on the privacy and security of our clients’ genetic information. We use strict protocols and comply with all applicable laws to ensure the privacy and security of all genetic data.

These questions should definitely be discussed with your doctor, and previous treatment, stage of the disease, concomitant diseases, availability of drugs and many other factors may be important, however, you can see drugs that can be used for cancer of a specific location here.