In medicine, genetic testing serves to diagnose genetically determined illnesses or identify risk factors associated with them. Affected patients, (future) parents and even relatives can all be informed in detail about possible risks as well as possible treatment options.
By law, genetic testing can only be conducted in Switzerland by appropriately qualified medical specialists (e.g. specialists in medical genetics for all genetic diseases; specialist endocrinologists for metabolic disorders; or for gynaecology and obstetrics in prenatal diagnosis). In specific cases, it can also be undertaken by non-specialised doctors, dentists, pharmacists or chiropractors. The results of genetic testing are conveyed to the affected people by qualified medical specialists.
The costs of laboratory genetic testing are generally assumed by the obligatory basic insurance provider, on condition that the analyses are featured on the list of analyses and commissioned by authorised doctors and specialists.
Some medicines don’t have the same effect on all people or are not tolerated equally by everyone. In these cases, genetic investigation helps with the selection and dosage of the relevant medication. The following pharmacogenetic analyses can currently be prescribed by all doctors, irrespective of their specialisation (see 2023 list of analyses and SSCPT): HLA-B*5701 (Abacavir), HLA-A*3101 and HLA-B*1502 (carbamazepine), TPMT (6-mercaptopurine, azathioprine), DPYD (5-fluoruracil, capecitabine) and UGT1A1 (irinotecan). Further pharmacogenetic analyses that are not on the SSCPT list may be prescribed only by doctors with federal specialisations in clinical pharmacology or toxicology.
Materials for genetic testing
In general, genetic testing involves the use of a blood sample. Samples need not be taken on an empty stomach. If a cheek swab is envisaged, the relevant person may neither eat nor drink for one hour beforehand.
Examples of analyses performed
(further analyses can be performed on request)
|Disease area||Investigations (single gene/gene panel)|
|Blood clotting disorder||Factor V Leiden, factor II prothrombin, MTHFR, PAI-1|
|Fertility / reproductive medicine||Azoospermia factor, cystic fibrosis, fragile X syndrome, karyotype, spinale muscular atrophy|
|Cognitive disabilities||Fragile X syndrome|
|Metabolic and endocrine disorders||Cystic fibrosis, fructose intolerance, haemochromatosis, lactose intolerance, coeliac disease|
|Neuromuscular diseases||Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1, spinal muscular atrophy|
|Pharmacogenetics||ABCB1, cytochrome, DPYD, HLA-A*31, HLA-B*57, UGT1A1 (Gilbert-Meulengracht’s syndrome)|
|Prenatal examination||Non-invasive prenatal testing (NIPT), foetal rhesus factor (RhD)|
|Rheumatic disease||HLA-B*27, HLA-B*51|
|Tumour disease||Hereditary breast and ovarian cancer (HBOC), lung cancer, stomach cancer, pancreatic cancer, prostate cancer|
|Trinucleotide repeat analyses||Fragile X syndrome, type 1 myotonic dystrophy, Huntington’s chorea (HD)|
How is genetic testing conducted at medica?
Patients register for genetic testing via their general practitioner or a specialist.
The medical geneticists at medica offer affected people and their families genetic consultations, during which possible causes, prevention, treatment options and the probabilities of re-occurrence can be discussed. To register for genetic advice from our specialists, kindly first book an appointment by phone: +41 044 269 99 54 Genetic advice is voluntary and provided in confidence.
Under the Swiss Federal Act on Human Genetic Testing (HGTA, SR 810.12), referring doctors and specialists are obliged to provide patients with information before and after genetic testing. Such information meetings must be documented by the consulting specialist.
We give our patients sufficient time between the genetic advice/information meeting and the laboratory-based genetic testing to enable them to weigh up the pros and cons of testing and come to a decision.
Laboratory genetic testing may never be conducted without the knowledge of the person concerned or against their will. In the case of people deemed incapable of judgement, prior consent is required from their legal representative.
If patients would like laboratory genetic testing, an application for assumption of the costs may be submitted to the person’s health insurer before the start of analysis.
If a patient has consented to genetic testing, a sample (e.g. of their blood) is taken. This can be undertaken either by the referring GP/specialist or by medica staff trained therein. Depending on the situation, samples may also need to be taken from relatives.
Our molecular genetics lab offers Sanger sequencing, qPCR, MLPA, next-generation sequencing (NGS) and whole exome sequencing (WES) as required.
The laboratory analyses are conducted on our various analytical devices. The measured (qualitative and/or quantitative) values are subsequently assessed by our highly-qualified laboratory personnel in line with current technical criteria and quality guidelines. After this, our specialists review the results from a medical perspective and approve the lab findings for forwarding to the referring physician.
The processing of applications for cost assumption by the health insurer and the genetic testing itself can take a number of weeks.
After laboratory testing, patients are notified in person about the test results within the framework of another genetic consultation meeting, and any further action is discussed.
More information about genetic testing
SGMG | Schweizerische Gesellschaft für Medizinische Genetik
ESHG | European Society of Human Genetics
GFH | German Society of Human Genetics
EMQN | The European Molecular Genetics Quality Network
BVDH | Berufsverband Deutscher Humangenetiker