In Germany, genetic testing for inborn errors of immunity (IEI) is being performed either at one of the 28 academic university centers who have a human genetics department, or at accredited private genetics laboratories. An academic center which has specialized on the interpretation of IEI genes, is for example the human genetics department at the Medizinische Hochschule Hannover (MHH; https://www.mhh.de/humangenetik/diagnostik-einsendungen/untersuchungsauftraege); a private laboratory specialized on IEI is e.g. CeGaT in Tübingen (https://www.humangenetik-tuebingen.de/seltene-erkrankungen/).
In Germany, health insurance is mandatory. Patients either have a public (about 80%) or a private (20%) health insurance. By law, public insurance companies will pay for the genetic screen of patients under the suspicion of an IEI. Paradoxically, for private insurance companies the test has to be applied for (cost is > 4.000€) and approved by the insurance company before testing can be conducted, which often delays the test. For refugees without health insurance, genetic testing is difficult and needs a sponsor. We are not aware of any research laboratories in Germany providing “free” genetic testing.
Results will classify the findings either as disease causing, disease associated, or as a variant of unknown significance. In the latter case, the responsible physician may consult the “list of functional testing” (https://ern-rita.org/working-group/molecular-testing/) of the European reference network RITA (https://ern-rita.org/) in order to identify a laboratory which may help in the interpretation of the finding. For data protection reasons, the laboratory results can only be communicated to the submitting physician. Only physicians educated in the genetics of inborn errors of immunity may communicate the genetic results to the patients or their guardians.
Author: Bodo Grimbacher, Freiburg, Germany
