Clinical genetics and genetic counselling

EuroGentest: Information for Patients and Families

Congenital dysplasia as well as some chronic diseases often have a genetic cause. The aim of clinical genetics and genetic counselling is to help families affected by a genetic disease and inform them about: the cause of the disease, the risk of passing it on to their progeny, the estimated risk of recurrence, preventive medical examination for the person at risk and the possibilities of prenatal diagnostics. This should be done in close collaboration with the diagnostic laboratories for cytogenetics and molecular genetics.

Definition of genetic counselling

Process of communication to inform the patient or person at risk about a possibly hereditary disease:

  • Type and cause of disease
  • Risk of developing or passing on the disease
  • The genetic risk of the consulter and his/her family
  • The possibility, significance and limitation of a genetic examination
  • Possible measures for prevention and early detection
  • Patient-, parent- and self-help groups

Who can access a genetic counselling (referral via attending doctor or independent)?

  • A person or couple who is worried about a possible risk for their progeny to suffer from a disease, which is known in the family and might be of genetic origin
  • A person from a family with a known hereditary disease who wishes to know the risk of being affected
  • Parents of a child or a person with a congenital malformation and/or a physical/mental handicap
  • A pregnant couple who’s fetus shows a malformation in the ultrasound or an abnormal result of a prenatal examination (First- or second trimester screen, biopsy of chorionic villi or amniotic fluid, puncture of the umbilical cord)
  • Couples with continuing infertility or repeated abortions
  • Consanguineous couples (e.g. cousins)

Procedure of a genetic counselling

  • Reception
  • Drawing of a pedigree
  • medical history taking
  • Interrogation about medical documents
  • Depending on the question: clinical investigation
  • Depending on the question: Blood draw for diagnostic analysis (chromosomal or molecular examination)
  • Critical evaluation of all clinical facts and laboratory results
  • Establishing a diagnosis or possible differential diagnoses
  • Calculation of the genetic risk for the consulter and his/her progeny
  • Discussion of the diagnosis, the cause, the risk and the possible preventive actions in an appropriate setting
  • Establish contact with patient-, parent- and self-help groups on demand