Mission of the Genetic Medicine Division
Our activities fulfil the triple mission of the HUG : care - training - research. Genetics studies the mechanism of diseases, their transmission across generations and their variations. Our general or specialized (clinical) genetic consultations are designed for people who have or may have a genetic disease and/or whose family member has a genetic disease. To support this our laboratories (FR) provide our patients with genetic analyses performed using the latest technological advances (high throughput DNA sequencing, CGH array, etc.).
Our main missions are the following :
- To make/confirm a medical diagnosis where there are suspected symptoms of a genetic disease. Our services are also provided for patients with an undiagnosed disease or who have sought several additional medical opinions.
- To help prevent complications, in order to preserve health.
- To refer patients to specialists offering the most appropriate care in order to ensure the patient receives the best possible medical follow-up.
- To enable life planning for the patient and family.
- To inform patients and their families about the genetic disease that affects them or their family members, its consequences and the care options.
The need to consult a medical genetics specialist may occur at any time of life- from pre-conception, during pregnancy, post-birth, childhood, during puberty and in adulthood. Genetic medicine is involved in many medical activities, including :
- In the prenatal period : reproductive (FR) and fetal medicine (FR).
- In the postnatal period : developmental abnormalities (FR), such as developmental delays and autism, deafness (FR), rare diseases (FR) and consultations for Down's syndrome (FR).
- During adult life : genetic kidney disease (FR) consultations, cardiogenetics (FR) and oncogenetic (FR) consultations (predispositions to cancer). In addition, we also offer integrated genetic-psychiatry (FR) consultations and pre-symptomatic consultations (FR).
Approximately 5% of the population has a genetic disease. A genetic disease is often hereditary and can therefore involve other family members. The multidisciplinary expertise of the HUG enables us to collaborate with many other medical specialties, as well as laboratory analysis specialists.
As with any medical practice at the HUG, our genetic consultations and genetic analyses strictly comply with the Swiss legal framework, specifically the guidelines of the Swiss Federal Law on Human Genetic Analysis (LAGH).
Our genetic analysis laboratories (FR), all accredited by the Swiss Accreditation Service SAS, routinely perform all types of genetic analyses, in particular targeted molecular genetic analyses, exome (the part of the genome that codes for proteins) and cytogenetic analyses (chromosome analysis) using state-of-the-art techniques and instruments. Notably, the clinical application of high-throughput exome sequencing means that the services of our Genomic Consultation (FR) are also available to you.