Adresse

Rue Gabrielle-Perret-Gentil 4
1205 Geneva
Switzerland

Complément d'adresse
Building D, 3th floor local 857 (Secretary)
Photo du Médecin-chef Marc Abramowicz
Professor
Marc Joël Abramowicz
Head of Division

Medical Activities

Genetic consultation

The genetic consultation is aimed at different types of patients :

  • Person/couple that asks themselves the potential risk of transmitting to their offspring a potentially genetic disorder that exists in their family
  • Person wishing to know the risk for themselves to develop a hereditary disease that exists in their family 
  • Parent(s) of a child / person with a congenital malformation and/or physical / mental / sensory disability
  • Current pregnancy with the discovery of a fetal malformation on the ultrasound and/or an abnormal result from a prenatal diagnosis (screening in the 1st / 2nd trimester, choriocentesis, amniocentesis) 
  • Couple with a history of infertility or repeated miscarriages 
  • Blood related couple
  • Diagnostic advice with a person/child with a potentially genetic condition

Patients could make an appointment directly (+41 (0)22 372 18 55) or be referred by their regular physician.

Genetic Counseling

Genetic counseling is provided by a FMH medical genetics specialist or by a licensed genetic counselor. The communication process whereby patients or related parties who are at risk for a (potentially) genetic disease are informed about :

  • The nature and cause of the ailment in question
  • The risk to develop it and/or to transmit it 
  • The genetic risks for the person being treated as well as for their related family 
  • The availability, reliability and limitations of the genetic tests 
  • Prevention and screening methods 
  • The existence of associations of parents/patients and support groups 

Given that genetic / hereditary diseases exist in practically all branches of medicine, we collaborate with the majority of other divisions of HUG as well as with established physicians who send their patients to us.

Genetic consultations take place either within our Genetic Medicine Division at CMU or, in cases of hospitalization or joint consultations, they take place in the corresponding hospital division.

Genetic Consultation Proceedings

A genetic consultation usually lasts from 45 minutes to 1 hour and covers the following main steps: 

  • Establishing a family tree 
  • List medical histories and request medical documents
  • Depending on the situation a clinical examination and a blood test for one or more laboratory tests may be performed. Depending on the situation, blood samples from relatives may also be requested (if possible). 
  • Establishment of a diagnosis from all clinical and laboratory data 
  • Evaluation of the genetic risk for the person themselves/their offspring 
  • Interview in an adequate psychological environment that supports the diagnosis, cause, risk and prevention
  • If desired, steering towards associations, parent groups

 

 infos maladies rares

Last update : 03/02/2021