Understand Genetic Risk Factors. Plan Individual Health Care.

Tumor diseases

Disease-causing changes in the genome of individual cells play a decisive role in cancer development. These genetic changes can be triggered by external factors, such as exposure to radiation and smoking. However, disease onset can also be caused by inborn alterations in the genotype, most of which are inherited. In the ‘tumor diseases’ module of our Disease Prevention Panel, 51 genes are analyzed that are associated with an increased susceptibility to tumor diseases. For example, we investigate genes that are particularly relevant to digestive tract tumors (various forms of colorectal cancer, stomach cancer, and pancreatic cancer), breast cancer, ovarian cancer, skin cancer, thyroid tumors, endocrine tumors, and more.

If our Disease Prevention Panel reveals an increased risk for a specific type of cancer, appropriate action will be advised. In the event of disease onset, relevant treatment can be provided in a timely manner.

Cardiovascular diseases

Cardiovascular diseases are the number one cause of death globally. The chance of developing heart disease increases with age, and in addition, certain genetic factors also increase the risk. Disease-causing changes in the genome can functionally disrupt the heart muscle structure (e.g., in cardiac myopathies). They can also impair the function of ion channels in the heart, which are important for transmitting electrical signals. This can cause cardiac arrhythmia. Pathogenic changes in further genes included on the Disease Prevention Panel can cause a disturbance in the structure of vessels. This can lead to pathological dilation, splitting of the vessel wall layers, or even rupture of vessels. Identifying these pathogenic changes will ensure that appropriate measures can be taken.

The ‘cardiovascular diseases’ module of our Disease Prevention Panel analyzes 55 genes that are involved in cardiovascular function. Pathogenic changes in these genes may give the treating physician an indication of whether closer monitoring is needed, or lifestyle adjustment, or therapy, are necessary.

Thrombosis and coagulation disorders

Genetic factors can disrupt blood clotting (coagulation). This can cause blood to clot within a vessel (thrombosis), eventually blocking the vessel entirely and possibly causing a stroke. Hereditary forms of thrombosis strongly increase the risk of leg vein thrombosis, stroke, pulmonary embolism, and miscarriage. Another manifestation of abnormal coagulation is a heamophilia (easy and prolonged bleeding). Due to a genetic defect, the function of blood clotting factors can be impaired. In haemophilic individuals, blood takes much longer to clot, or does not clot at all. Even minor injuries or interventions can cause extensive bleeding in joints and tissues, leading to severe blood loss.

The ‘thrombosis and coagulation disorders’ module of the CeGaT Disease Prevention Panel analyzes 28 genes associated with coagulation disorders. If genetic risk factors for coagulation disorders are identified, an attending physician will take appropriate precautions.

Iron and copper storage disorders

These hereditary diseases are characterized by the accumulation of iron or copper in the body. In individuals with iron and copper storage disorders, the balance between uptake and elimination of iron or copper is disturbed. As a result, excessive amounts can accumulate in organs and tissues, causing damage and discomfort. Our genetic analysis can reveal a predisposition to iron and copper storage disorders even before the onset of symptoms.

In the ‘iron and copper storage disorders’ module of our Disease Prevention Panel, 8 genes involved in copper and iron metabolism are analyzed. Disease-causing changes in these genes will be identified, and appropriate measures can be taken to prevent disease-related damage.

Hypercholesterolaemia

Familial hypercholesterolaemia is a hereditary disturbance of lipid metabolism. In 85 % -90 % of cases, this is caused by a mutation in the low-density lipoprotein (LDL) receptor (docking site for LDL on cells) gene, which increases blood lipid LDL cholesterol by 2 to 10 times the normal value. This increases the amount of LDL deposited in blood vessels (vascular calcification), which increases the risk of a heart attack.

Familial hypercholesterolaemia is thought to occur in 1:500 individuals, but only 15 % of cases are actually diagnosed. In young individuals, it is usually only diagnosed after a heart attack. Other diagnostic factors include:

• Frequent familial heart attacks
• Xanthomas (nodular fat deposits in the skin)
• Strongly elevated LDL cholesterol levels in the blood

In the ‘hypercholesterolaemia’ module of the CeGaT Disease Prevention Panel, 4 disease-relevant genes are analyzed, including genes that encode the LDL receptor and proteins that affect LDL receptor function. Early diagnosis means LDL cholesterol can be reduced by early interventions and lifestyle changes that reduce vascular deposits, thereby lowering the risk of a heart attack.

One form of therapy, in that case, could be the administration of lipid-lowering drugs (e.g., statins). In this context, the CeGaT ‚Pharmacogenetics‘ module offers the possibility to investigate genetic variants that influence the effect of e.g., statins. With this knowledge, the physician can individually adjust the drug dose.

Glaucoma

Glaucoma is one of the most typical causes of blindness worldwide. Glaucomas often develop with age and without a specific reason. Degeneration of retinal cells during the course of the disease irreversibly damages the visual field.

Risk factors for glaucoma include higher innereye pressure, ethnic origin, diabetes, chronic eye infections, or cardiovascular diseases. Around 5 % of glaucomas are caused by inherited genetic changes that can induce disease onset from 35 years of age. In the ‘glaucoma’ module of our Disease Prevention Panel, 2 genes are tested that are known to cause glaucoma.

If the test reveals an elevated risk of glaucoma, further monitoring is recommended to ensure that appropriate treatments are initiated as soon as they are necessary. The earlier glaucoma is detected, the better the prognosis and the sooner the appropriate therapy can be initiated to slow down or even stop disease progression.

Malignant hyperthermia (Anaesthesia intolerance)

Malignant hyperthermia is characterized by a life-threatening response to anaesthesia. In the presence of certain genetic risk factors, anaesthetics or muscle relaxants disrupt calcium metabolism in the muscle. This disruption causes muscles to cramp, become rigid, and increase blood pressure and body temperature. If these symptoms are not treated quickly, the patient will die from metabolic and organ failure.

This inherited disease is usually recognized for the first time when anaesthetics or muscle relaxants cause a life-threatening situation. However, a well-tolerated response to anaesthesia does not exclude a predisposition to malignant hyperthermia because patients can undergo an average of three narcoses before disease onset.

The ‘malignant hyperthermia’ module of CeGaT’s Disease Prevention Panel tests 2 genes that are responsible for more than 70 % of malignant hyperthermia cases. Diagnosing a predisposition to malignant hyperthermia before a surgical intervention means that the individual can be anaesthetized in a way that will not trigger an unfavorable reaction.

Pharmacogenetics

Pharmacogenetics illustrates how genetic changes can affect the influence of drugs. Genetic changes in the proteins responsible for absorption, distribution, metabolism, and excretion of drugs can have a huge impact on their effectiveness and compatibility.

Some drugs have different effects on different people, e.g., antidepressants, analgesics, neuroleptics, chemotherapeutics, AIDS medication, thrombosis medication, anaesthetics, beta-blockers, and statins. A specific enzyme‘s reduced or missing activity may increase the drug level and cause unwanted side effects. On the other hand, a medication that is activated by metabolism may not work if an enzyme is inactive. Enhanced enzyme activity can also affect the response to medication, e.g., by degrading the active ingredients.

The ‘pharmacogenetics’ module of our Disease Prevention Panel analyzes known variations in 22 genes that are involved in the metabolism of pharmaceuticals. If gene variants are found, the physician can customize the therapy to avoid serious side effects and treatment failure.