ENPeople ask about genetic testing in Germany for three very different reasons: a child with a condition nobody at home could name, a family in which the same cancer keeps appearing, or a treatment decision that depends on a mutation in the tumour. The tests behind those three questions are not the same.
This page explains which tests exist, why in Germany the conversation with a doctor comes before the sample, how long results really take and what a family should bring. Other examinations are covered under diagnostics in Germany.
What a genetic test actually is
A genetic test reads hereditary information or tumour changes, and tests differ by purpose. A diagnostic test looks for the cause of a condition that is already there; a predictive test looks at a healthy person’s risk; carrier testing concerns future children; pharmacogenetic testing looks at how a drug will be broken down; and tumour testing reads the changes in the cancer cells rather than in the person.
In practice, the first three, and pharmacogenetic testing too, read the inherited genome from blood or saliva, while tumour testing needs tissue from the biopsy. The two kinds are often confused when people ask for genetic testing in Germany.
What a test cannot do: it does not predict a life. And a normal result does not rule out every cause, because not every gene involved in a condition is known.
Why counselling comes before the sample
Because German law requires it: the Genetic Diagnostics Act (Gendiagnostikgesetz) demands that a predictive test be preceded and followed by qualified genetic counselling, and that the person consent in writing. This is not a formality added to the invoice but the reason the result is usable afterwards.
In that appointment the geneticist draws a family tree over three generations, asks which relatives were affected and at what age, and goes through what each possible result would change. Families are also asked whether they want to know a finding that cannot be treated; the right not to know is respected.
The second half of the counselling comes after the result, when the finding is explained together with what it means for siblings, parents and children. Why a finding matters for healthy relatives too is explained by the German Society of Human Genetics (in German).
Which tests are ordered and how long they take
Tests go from the narrowest to the broadest, and the wait ranges from a couple of weeks to months. The scale runs from a single gene to a panel of genes chosen for the suspected condition and, if the panel finds nothing, to exome sequencing, which reads all protein-coding parts of the genes. For developmental disorders there is the chromosomal microarray, which finds missing or extra chromosome pieces too small for a microscope; a classic karyotype is used where a structural change is suspected.
Time is the part patients underestimate. A targeted single-gene test can come back in a couple of weeks, a panel usually takes several weeks, and an exome can take months. So the result almost never arrives during a short trip: the sample is taken in Germany and the report is sent afterwards.
What makes a test faster and better is a clear clinical question, previous reports and images and, where possible, samples from the parents. That is why a family is often asked to come together.
Hereditary cancer in the family
Hereditary cancer is the most common reason adults come for genetic testing in Germany. The question arises when the same cancer appears in several close relatives, when a diagnosis comes at an unusually young age, or when breast and ovarian cancer occur in one family. These genes are tested as panels, and a positive result changes the screening schedule rather than only the statistics: check-ups start earlier and go further.
A tumour marker in blood is a different thing entirely and answers a different question: see tumour markers in blood. A full cancer work-up is also its own topic: cancer diagnosis in Germany. Signs of a familial risk and what counselling offers are explained by the Cancer Information Service of the German Cancer Research Center (in German).
Where this is done and by whom
Clinical genetics in Germany sits in institutes of human and clinical genetics at university hospitals, which combine the counselling clinic and the laboratory. Among AlenMed’s partners is the Institute of Clinical Genetics at the Carl Gustav Carus University Hospital Dresden, where its director Prof. Diana Le Duc and deputy medical director Dr Joseph Porrmann work.
Others are involved too: the referring specialist who formulates the question, the paediatrician or oncologist who will act on the answer, and the laboratory scientists. At the University Hospital Hamburg-Eppendorf the Institute of Human Genetics is headed by Prof. Christian Kubisch.
Frequently asked questions
Can I choose not to know the result?
Yes: the right not to know is written into the German Genetic Diagnostics Act. Before the test, the person decides which results they want to be told and can ask for a result to be destroyed. Consent can be withdrawn at any time, orally or in writing.
Do relatives need to come too?
It is not required but often helps. Samples from the parents show whether a change was inherited or is new, and relatives’ records help to draw the family tree. Each relative is tested only with their own written consent and, if the test is predictive, after their own counselling.
How much does genetic testing in Germany cost?
There is no single price: it depends on the test the counselling points to, a single gene, a panel or an exome, and on how many family members are tested. A clinical genetics department reviews the documents first and then sends a written estimate.
How AlenMed arranges genetic testing
AlenMed starts with the documents: previous reports, images and any earlier genetic findings go to a clinical genetics department, which answers whether a test is indicated at all, which test it would be, how long it takes and what it costs. Then come a written estimate, an invitation for the visa, an appointment for the counselling and an interpreter, because this conversation is about probabilities and family history and cannot be done by gesture.
What to plan for: bringing relatives’ medical records and, if possible, the relatives themselves; accepting that the report will arrive after the trip; and having it translated for the doctor at home.
This material is for information only and is not an offer. Whether a test is indicated is decided by a doctor in person.