Examination of genetic material

Nowadays, your personal genetic predispositions can be examined very efficiently. Genetic tests provide information about various predispositions that affect your health. Do you have an increased risk of heart attack or impaired blood clotting, Parkinson's disease or diabetes, breast cancer or other cancers?

Possibilities for investigation

unexplained hereditary burdens in your family
known hereditary disorders (such as heart, metabolic and neurological diseases)
disease complexes that are difficult for your doctor to classify diagnostically, which can be examined using so-called panel examinations (compilations/combinations of several individual gene tests, multi-gene analyses) - and in the near future also through examinations of the entire genetic material (exome, genome analyses)
more than 5000 rare hereditary diseases
as well as abnormalities of the hereditary carriers (chromosomes)

Genetic testing - Human genetic testing

Molecular genetic testing

Genetically caused diseases are often based on a change (mutation) in one of the approximately 23,000 hereditary dispositions ("genes") that humans have. In some diseases, all similarly affected individuals carry a mutation in one and the same of these 23,000 genes. In such cases, we examine only that one gene. In other diseases, changes in different genes cause the same symptoms: affected individuals may then carry changes in different genes. For such cases, we offer an examination of a "gene panel", which can consist of hundreds of genes. During such an examination - similar to imaging procedures in the clinic (X-ray, MRI) - incidental findings may occasionally be detected, which should be discussed. In this case, we again offer genetic counseling after the examination.

Genetic tests with diagnostic or predictive questioning

The person being tested has the disease himself/herself, and the test is performed to provide genetic confirmation of a suspected clinical diagnosis. We then speak of a "diagnostic genetic examination". Genetic counseling may be useful to explain a diagnostic genetic examination.
The person examined is healthy, but has a genetic relative, e.g. parents or siblings, or even a more distantly related family member with a genetic disease. In this case it can sometimes be life-savingly important to perform a genetic examination in order to initiate preventive measures. We then speak of a "predictive genetic examination", i.e. the prediction or ruling out the suspicion of a disease that may only occur later in the life of the person examined. In such a situation, genetic counseling is particularly helpful and is expressly recommended (GenDG).

Cytogenetic testing (chromosome analysis)

Whereas in a molecular genetic examination ("genetic test") the genetic material is analyzed directly using biochemical methods, in a cytogenetic examination the carriers of the genetic material, the chromosomes, are observed under the microscope ("chromosome analysis"). It is examined whether a normal set of chromosomes is present or whether there is a chromosomal alteration. This may be a change in the number of chromosomes or a change in chromosome structure. In "molecular cytogenetic investigations", molecular genetic and cytogenetic methods are combined.

Legal regulations

The Genetic Diagnostics Act (Gendiagnostikgesetz, GenDG) plays a major role in ensuring that people receive genetic tests that are sensible for them and are spared genetic tests that they do not need or do not want. The most important decision-making aid is genetic counseling. Here, the pros and cons of genetic testing are weighed up so that the patient can assert his "right to know" as well as his "right not to know."

Legislation stipulates that genetic counseling must be offered in connection with the initiation of predictive and prenatal genetic testing. However, no one is obliged to take advantage of such an offer.

Irrespective of genetic counseling, every patient has the right to information.

The text of the law is available on the homepage of the Federal Ministry of Justice. The guidelines and statements on the GenDG written by the Genetic Diagnostics Commission on many aspects of genetic testing can be found HERE.

Consultations

COSTS

Provided that the responsible medical person (according to GenDG) gives an indication for an examination, human genetic services can be billed to the associations of statutory health insurance physicians.

For private patients, the laboratory services provided are clearly summarized in an invoice. This invoice is submitted to the private health insurance company for reimbursement. We recommend obtaining prior reimbursement approval from the health insurance company.

Human genetic testing can also be offered as a self-pay service. In this case, the costs must be borne by the patient without the possibility of reimbursement.