Medical genetics

Genetic disorders: a structured approach

In general, child and adult genetic counseling involves:

• The reconstruction of the familyfamily tree starting with the proband (subject to be presumably investigated) and going back three generations (grandparents).
• The collection of all information related to the diagnostic question. In some cases the patient is examined for signs compatible with the diagnostic suspicion.
• The explanation of the type of genetic test proposed and informed consent in line with the Swiss Society of Medical Genetics.
• The organization of the necessary collection and sending of the sample to the reference laboratory.
• The result obtained and the implications for the patient and his or her family members are discussed in a subsequent consultation.

The consultation includes a meeting with a geneticist, a medical oncologist and/or a nurse practitioner, specialized figures who are continuously updated scientifically.
The outcome of the genetic counseling will be shared with the patient and, upon agreement with the patient, with the referring caregivers.