FAQs

In genetic testing, specialists look at a person’s genetic material, i.e. DNA. For this purpose, a blood sample is taken from the person. In a specialised laboratory, the DNA is extracted from the blood and examined. The information stored in the DNA as a sequence of letters is then compared with a “reference DNA” and any deviations, so-called variants, are recorded. Genetic specialists then check whether the genetic changes found can impact the health of the person examined. If so, and wherever possible, preventive measures or individual treatments are then initiated. Since the measures are based on the individual genetic disposition, one also speaks of “precision medicine”.

In the following cases, it may make sense to carry out genetic testing. However, decisions are always made on a case-by-case basis:

• If a patient is already ill and the disease is believed to be genetic in nature.
• To confirm a diagnosis or to create the conditions for the right therapy.
• To determine whether a person is a carrier for a hereditary disease with regard to life or family planning.
• To detect gene mutations in healthy family members with a proven hereditary mutation in order to determine the risk of the disease and recommend appropriate preventive measures based on the findings. Whether genetic testing really makes sense must be determined on a case-by-case basis, and it requires professional genetic advice in advance.

Complementary to traditional approaches to medicine, genetic medicine deals with the individual genetic preconditions of a person and tailors medical treatment accordingly.

In diagnostics, genetic medicine offers the advantage of detecting risks for diseases before they break out. Thus, early preventive measures can help to avoid a disease in the best case, or at least delay its onset. In treatment, the advantage offered by genetic medicine is that therapies and medicines that show no effect or major side effects based on personal genetic disposition can be avoided from the outset and replaced by effective therapies. This reflects a move away from the watering can principle – and towards precision medicine.

Clear questioning is essential for genetic testing. A doctor needs to know exactly what he or she is looking for and always assess the genetic findings in the context of a patient's symptoms. There are various ways of doing this. In addition, every genetic test must be accompanied by genetic counselling.

The extent to which genes influence the occurrence and course of a disease has not yet been clarified for all diseases. To date, more than 300,000 genetic changes that can have an influence on health have been identified – and new findings are added every year. In the meantime, the hereditary nature of cardiovascular diseases (including high blood pressure) and cancers (BRCA1 and BRCA2 mutations in the area of breast, ovarian and prostate cancer), but also of rarer diseases such as mucoviscidosis (cystic fibrosis), various muscular and metabolic diseases, etc., has been particularly well documented.

The more genes are examined, the greater the probability of encountering an unknown gene variant that has not yet been described. In this case, it is referred to as a variant of unclear clinical significance. We then use different software and tools to try and find out whether it is more of a benign variant or a disease-causing variant. If the finding remains unclear, we recommend re-evaluating it in one to two years, as new findings are constantly being made.

The more genes you investigate, the greater the probability that you will find a pathogenic variant that is not related to the primary clinical question. However, in this case, patients always have the right not to know.

Genetic analyses are covered by compulsory health insurance, provided they are classified as mandatory. According to Article 25, Paragraph 1 KVG, they must be used to diagnose or treat a disease and its consequences. Genetic counselling, like any other medical service, is billed via Tarmed. The tariff for the position «Genetic counselling» corresponds to the basic tariff for a general medical consultation.

The procedure of a genetic test is very easy for patients. In this context, individual advice on genetic counselling before and after a genetic test is very important. In this way, we ensure that mere laboratory analysis does not leads to false conclusions.

Yes, because the legal basis alone, which we always use as a guide, is very strict in Switzerland. The aim of the HGTA is to prevent misuse of genetic testing or data and to ensure the quality of genetic testing. The focus is always on every person's right to self-determination. The right to know and not to know is of great importance. The protection of people incapable of judgement – including children – is also extensively regulated. For example, genetic tests may only be carried out on children if the child's health is acutely affected. The situation is different, for example, in the case of hereditary diseases that can only occur in adulthood. ln this case, parents are not allowed to order a genetic test as a precautionary measure to assess the risk. This is only possible when the child becomes capable of judgement and can therefore give his or her own consent.