Genetico conducts research aimed at identification, early diagnosis, and prevention of genetic, oncological, and other socially significant and rare diseases, for assisted reproduction technologies, infertility treatment, and scientific research.
The company develops screening assays, personalized assays for patients, and NGS-based assays for medical laboratories.
Development of NGS-based assays for screening and genetic diagnostics in reproductive medicine and oncology.
Diagnosis of hereditary diseases
Genetico’s developments focus on socially significant diseases and reproductive medicine: DNA (genome, exome) research for the purpose of personalized diagnosis specification, risk assessment for future children, and selection of an effective therapy.
Genetico implements advanced genetic analysis technologies (Next Generation Sequencing, NGS): whole-genome and whole-exome research, as well as develops its own NGS panels for diagnosing and preventing hereditary diseases based on whole-exome sequencing, making modern technologies more accessible to patients, and the time of diagnosing hereditary diseases shorter. This means that therapy for curable diseases can be started earlier, which is critical for a number of conditions.
Targeted therapy for tumors
Tumor genomic profiling provides information about mutations associated with the response to target therapy or disease prognosis. It can help select the most effective therapy taking into account genetic properties of the patient’s tumor. This study includes only genes of confirmed clinical significance for prescribing target therapy, diagnosis specification, or prognosis.
Based on the tumor genomic profiling, the patient and their attending physician receive a report on clinically significant mutations identified in the tumor, a list of target drugs the response to which is associated with these mutations.
Screening for fetal chromosomal abnormalities
Non-invasive prenatal testing (NIPT) can determine the risk of major chromosomal pathologies of the fetus.
As the placenta grows, some of its cells are destroyed and small fragments of fetal DNA enter the mother’s bloodstream. This DNA is called cell-free fetal DNA or cfDNA. A pregnant woman’s blood contains her own cfDNA fragments and those from the fetus. Accurate fetal cell-free DNA analysis is possible as early as the 10th full obstetric week of pregnancy.
Prenetix is one of the most well-studied non-invasive prenatal tests (more than 268,000 women tested). The method’s sensitivity (correctly identified pregnancies with pathology) is up to 99.3%, the false positive rate is less than 0.04%.
Diagnosis of hereditary and oncologic diseases
Our services include bioinformatics pipelines for processing NGS data, approaches to sequencing data interpretation developed by Genetico, and software for interpreting NGS data.
Genetico has accumulated unique competencies in the analysis and clinical interpretation of NGS data by conducting a total of over 8,000 similar studies in the Russian population. Genetico has created an internal database of genetic variants, as well as software for interpreting NGS data using this database.
Improving IVF outcomes for pregnancy outcomes
Preimplantation genetic testing (PGT) is a method for analyzing the genetic status of an embryo before it is transferred into the uterine cavity as part of an IVF protocol.
A genetic status analysis may differ depending on the family’s medical goal. It can be a chromosomal analysis, testing for monogenic disorders.
PGT for chromosomal abnormalities (PGT-A) helps select embryos without chromosomal abnormalities within the resolution of the method. This can increase the effectiveness of an IVF cycle significantly, reduce the probability of having a child with chromosomal abnormalities and the risk of spontaneous abortions (pregnancy loss). Since the beginning of its work, Genetico has diagnosed more than 45,000 samples.
PGT-M allows for effective prevention of an embryo inheriting a monogenic disorder. The toolkit used by Genetico’s genetic laboratory is suitable for PGT of most known monogenic diseases, including:
At Genetico’s laboratory, PGT-M is performed for all hereditary monogenic disorders. The testing accuracy is 99.5%.
Prenatal screening of pregnant women
A reagent pack for sample preparation and sequencing of freely circulating DNA obtained from blood samples of pregnant women designed to determine the risk of aneuploidy at chromosomes 13, 18, 21, X, Y of the fetus. It also includes data processing software and an algorithm for calculating the risk from cell-free DNA sequencing data.
The assay is intended to be used in medical and research genetic laboratories to conduct tests for chromosomal abnormalities in the fetus in the early stages of pregnancy."
Preimplantation genetic testing
A reagent pack for sample preparation and sequencing of trophectoderm samples of an embryo on the fifth day of development designed to increase the probability of pregnancy in an IVF cycle. It also includes software algorithms for processing data from NGS sequencing of embryo cell DNA whole-genome amplification products, making it possible to determine the main genomic mutations of the fetus (trisomy, monosomy, tetrasomy, nullisomy, segmental copy number variations).
The assay is intended to be used in medical and research genetic laboratories to analyze chromosomal abnormalities in the fetus.
Genetic profiling of the tumor
A panel (primer set) for sequencing DNA isolated from tumor tissue to identify molecular changes in the genes associated with the development of various tumor types and the response to target therapy, as well as a developed software algorithm for processing and clinical interpretation of sequencing data.
The panel is intended to be used in medical and research laboratories for the purpose of molecular genetic profiling of tumors and personalized selection of target therapy for cancer patients."
Suspicion of hereditary disease
Whole exome sequencing is the part of the human genome responsible for protein synthesis in the body.
Whole-exome sequencing is a DNA test that is used when a patient is suspected of having an inherited disease to clarify the diagnosis, predict the course of the disease, or determine the genetic cause of the disease.
Whole-exome sequencing is also used for pre-conceptional screening, which is designed to reduce the risk of an inherited disease in future children.
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