If you know your genetic risk factors, you can take action.
Each of us has an individual genetic predisposition that influences the risk of certain diseases. We now know of many genes whose pathogenic changes cause addressable diseases or increase the risk of disease. If such genetic changes are known, targeted medical prevention is possible.
Our modular prevention panel
Our prevention panel has a modular structure; the selection of genes is based on the recommendations of the American College of Medical Genetics and Genomics (ACMG), which we have specifically expanded to include additional "actionable genes" (medically addressable genes) and regularly update based on the latest scientific findings.
The key criteria for us are that
- Changes in the investigated genes are known to trigger the disease or significantly increase the risk of it (high penetrance).
- the disease may remain asymptomatic - and therefore probably undetected - for many years.
- specific measures for early detection, prevention and/or treatment can be derived from the results of the genetic test.
Individual and flexible thanks to modularity
We have structured our prevention panel in a modular way in order to be able to respond to individual needs and wishes in a targeted and flexible manner. The modules of the panel are divided into three disease groups: Tumor diseases (module 1), cardiovascular diseases (module 2) and metabolic diseases (module 3).
The earlier a tumor is detected, the better the prognosis. Today, various screening programs for early detection are part of regular healthcare. These measures are tailored to the risk in the general population. However, for people with a tumor predisposition syndrome or a family history of cancer, the risk of certain types of cancer is greatly increased compared to the general population.
With the gene selection made in Module 1, we specifically investigate whether genetic changes are present in genes that are particularly relevant for the development of hereditary breast and ovarian cancer, prostate cancer, stomach and colon cancer, skin cancer, leukemias and other tumor diseases. If we identify an increased risk of a specific cancer, it makes sense to take part in early and regular screening measures. If the disease breaks out, treatment can then be started at an early stage.
Cardiac arrhythmias, heart muscle and vascular diseases, e.g. an enlargement of the aorta (aortic aneurysm) - they can all have genetic causes. These diseases often go unrecognized and untreated. The possible health risks include heart failure, sudden cardiac death or a life-threatening aneurysm rupture.
Genetically caused heart and vascular diseases cannot usually be cured immediately, but can almost always be treated well with medication or surgery. Close monitoring can also help to reduce the risks of congenital cardiovascular disease.
Most of the diseases examined in Module 2 are inherited in an autosomal dominant manner, i.e. the risk of passing the disease on to one's own children is 50%. If a disease-causing change is discovered during the examination, the results of the genetic examination can therefore also be relevant for parents, siblings and children.
In this module, some of the diseases listed below can be excluded in order to adapt the analysis to individual needs and wishes.
Familial hypercholesterolemia (FH)
In FH, the LDL cholesterol level in the blood is sometimes massively elevated due to hereditary factors. If excess LDL cholesterol leads to lipid deposits, this promotes hardening of the blood vessels (atherosclerosis), which is a risk factor for many cardiovascular diseases.
(Treatment) option: lower LDL cholesterol levels (with medication)
Diabetes type MODY (maturity-onset diabetes of the young)
Unlike type 1 diabetes (autoimmune disease) and type 2 diabetes (insulin resistance), MODY diabetes is genetic. The disease often occurs in young adulthood (< 35 years) and is milder than other types of diabetes. In order to choose an individually tailored treatment, it is important to be able to distinguish MODY type from other forms of diabetes and to know the exact genetic cause.
(Treatment options: diet, exercise, sulphonylureas, antidiabetics, insulin, depending on the underlying genetic change and course of the disease
Malignant hyperthermia (intolerance to anesthesia)
This is a very rare but dangerous potential complication of anesthesia. If there is a genetic predisposition, contact with certain anesthetics can lead to uncontrolled calcium release in the skeletal muscles. The eponymous "malignant hyperthermia" of the body (malignant hyperthermia) is a typical symptom.
(Treatment) option: use a safe anesthetic
Hereditary haemochromatosis (iron storage disease)
In hereditary haemochromatosis, there is an abnormally increased absorption of iron and its accumulation in various organs, particularly in the liver. Excessive iron storage can cause damage to various organs and tissues (e.g. liver, pancreas, heart, joints, pituitary gland, spleen, thyroid gland and skin). Early detection and treatment can prevent/reduce potential damage.
(Treatment) option: repeated venous blood sampling ("bloodletting")
Wilson's disease (copper storage disease)
In Wilson's disease, excess copper cannot be removed from the liver. An "overload" of copper in the liver can result in liver damage and liver dysfunction. If unbound copper finally escapes and is deposited in other organs and tissues, these can also be damaged.
(Options for action: reduce copper intake, increase copper excretion
How does preventive genetic testing work?
According to the German Genetic Diagnostics Act (GenDG), preventive genetic testing of healthy individuals may only be requested by a specialist in human genetics.
Counseling interview
A detailed genetic consultation is necessary before the test. This enables those seeking advice to make an informed, independent and well-founded decision as to whether they want a preventive genetic analysis. The consultation can take place in person or as part of a video consultation. Once written consent for the genetic test has been given, the sample is taken; as a rule, 3 - 5 ml of blood is sufficient.
Evaluation and information
After analysis and evaluation, we will prepare a report which will be discussed in detail with the medical specialist providing information during a consultation. The findings themselves are clearly structured and explain the results in a comprehensible manner. If disease-causing genetic changes are detected, we provide specific recommendations for action and a risk assessment for other family members and children of the person seeking advice, both in the consultation and in the findings.
Individual health service (IGeL)
Preventive genetic tests are not part of the range of services covered by statutory health insurance. Therefore, the costs are not covered by statutory health insurance. It is an individual health service (IGeL) for which we provide a cost estimate and invoice based on the official scale of fees for doctors (GOÄ).
