Hereditary disorders
Testing for hereditary disorders, specifically germline mutations, is a pivotal component of genetic diagnostics.
Germline mutations are alterations in the DNA of reproductive cells, potentially passed on to future generations. Genetic testing focuses on identifying these mutations to assess an individual’s susceptibility to inherited disorders.
Germline mutation testing involves analyzing specific genes associated with hereditary conditions. This comprehensive examination aids in early detection and risk assessment, enabling individuals and healthcare professionals to make informed decisions about prevention, intervention, and family planning.
Identifying family members at risk
Identifying family members at risk is one of the benefits of genetic testing. The potential result can be:
- variant of uncertain significance (VUS),
- pathogenic gene variant and,
- benign gene variant.
In case of a positive test result (when you have been diagnosed with a pathogenic gene variant or a variant of uncertain significance (VUS)), your family members have up to a 50% chance of having the same gene variant. Family testing can identify other family members who are at risk for the same medical condition.
Gene Panels
Testing for germline mutations allows obtaining a report based on the analysis of various gene panels, such as panels for hereditary tumor syndromes, cardiovascular and metabolic diseases, pharmacogenetic and nutrigenetic panels, as well as mitochondrial DNA analysis.
Cancer is a group of diseases that results from changes in the genome of cells in the body, such as DNA mutations in the genome, and leads to uncontrollable growth of these cells. Cancer genomics is the study of the difference in the DNA and the gene expression of normal host cells, and cancerous cells.
About 5 to 10 percent of cancers are thought to be hereditary. In these cases, an individual inherits a copy of a growth control gene with a mutation from one parent, and a working copy of the same gene from the other parent. The gene with the mutation is also called a “cancer susceptibility gene.” Since this cancer susceptibility gene is inherited, it is found in every cell of the body, but the working copy of the gene keeps each cell working properly. However, if the working copy of the gene in a cell becomes damaged by a mutation, that cell can lose its growth control and become cancerous. Thus, individuals who inherit a cancer susceptibility gene have a much greater chance for developing certain cancers in their lifetime. However, not everyone with an inherited cancer susceptibility gene will develop cancer.
In hereditary cancer syndrome, certain patterns of cancer may be seen within families. These patterns include having several close family members (such as a mother, daughter, and sister) with the same type of cancer, developing cancer at an early age, or having two or more types of cancer develop in the same person.
ICABS uses comprehensive model for the prevention of sudden cardiac death and other cardiovascular disorders by analyzing 563 genes and mutations associated with conditions that can lead to sudden cardiac death and other cardiometabolic disorders.
Given that a large number of cardiovascular diseases that can lead to sudden cardiac death have a genetic basis within risk groups of the population in addition to standard clinical treatment by the guidelines of the European Society of Cardiology, it is necessary to perform a timely genetic screening which will lead to optimization of treatment but also a determination of recommendations related to further patient activities.
Identifying family members at risk is one of the most important benefits of genetic testing. The results of genetic tests can affect not only the individual who underwent the test but also the entire family. If your test result is positive and you have a pathogenic gene variant or a variant of uncertain significance (VUS) your family members have up to a 50% chance of also having the same mutation. Family monitoring can identify other family members who are at risk for the same medical condition. Family members who are also positive can work with their doctors on a prevention or early detection plan.
Identifies variations in an individual’s genetic makeup to determine whether a drug is suitable for that patient, and if so, what would be the safest and most effective dose. Currently, genes covering 38 drug classes across 13 specialties are covered as per Clinical GENOMIST Implementation Consortium (CPIC) recommendations and other guidelines RNPGx, DPWG, and CPNDS
What does the report cover?
The report covers 13 specialties, 32 genes, 38 drug classes, 119 gene-drug interactions, and 103 drugs.
The use of pharmacogenomics technologies will ultimately enable healthcare providers to: maximize the intended use of a medication or treatment, reduce adverse drug reactions, speed time to achieving the therapeutic benefit of a drug and decrease the chance of side effects or dependency.
It will also be possible to reduce healthcare cost by: using genomics to identify the most appropriate and affordable drug the first time, reducing adverse drug reactions early in treatment, thus, reducing hospital length of stays, reducing hospital readmissions, reducing ER visits
Analysis and Reporting:
Pathogenic and Likely Pathogenic variants reported in the MITOMAP database.
Heteroplasmy levels are an approximate estimate.
Nutrigenetics is the branch of genetics that studies the relationship between genes and diet with the aim of achieving optimal health through diet. We all know that an incorrect diet can be the cause behind numerous health problems such as: overweight, autoimmune diseases, inflammatory diseases, cardiovascular diseases, cancer…
Nutrigenetic test (43 genes) analyse certain DNA variants related to important aspects of metabolism such as fat accumulation and increased BMI (Body Mass Index), appetite regulation, the metabolism of certain vitamins and other variants important for the development of a personalised diet.
According to the test results, everyone will get information on the metabolism of specific nutrients from food or supplement, in terms of normal or deficit metabolism respectively. Specific testing results enable us to choose the optimal nutrient supply, identify the poor detoxification of harmful substances in the liver, and indicate which foods you should avoid due to poor metabolism.
The nutrigenetic profile is determined by DNA analyses from the blood samples of everyone. The results of the analysis provide information for the optimization of individual diet plans, based on the needs of each person.
Nutrigenetic test is considered for all age groups (from 18 months of age) who have family members suffering from various metabolic disorders (diabetes, high cholesterol…) and healthy people who want to get a personalized healthy diet plan to prevent the development of diseases in the future. Testing is enough to be done once in a lifetime.
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Mitochondrial disorders are clinically heterogeneous affecting isolated or multiple organ systems, may present at any age and are associated with significant morbidity and mortality. Mitochondrial disease prevalence is estimated to be approximately 12.5 per 100,000 in adults and approximately 4.7 per 100,000 in children. However, the frequency of pathogenic mtDNA variants in the general population is estimated to be higher, with approximately 1 in 250 healthy individuals carrying a pathogenic mtDNA variant at low levels.
Mitochondrial disorders originate from variants in nuclear DNA or mitochondrial DNA (mtDNA) and result in a spectrum of pathological conditions.
Mitochondrial genome testing involves testing of point mutations within mitochondrial genome only.
Indications: Suspected Mitochondrial Disorders