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Clinical genetics specialists; genetic disease counsellor


Information on hereditary genetic diseases is increasing thanks to the ever-widening knowledge about genetics. As a result, it necessary to have a genetic counsellor who advises doctors specialising in oncology or rare or orphan diseases and other specialities on the latest updates in molecular genetics and expression of diseases. Moreover, it should be noted that most genetic abnormalities occur with a very low frequency, about one case out of every 300,000 individuals. Knowledge of the possible genetic cause of a disease is very important for developing new therapies, for choosing a treatment and in family planning (to help parents with the decision to have offspring). Genetic counsellors are responsible for advising doctors on aspects relating to genetic diseases. They can work at hospital or in a technical department (as specialised consultants) providing advice to different doctors.


  • Obtain samples of genetic material; process and analyse them to obtain information on genetic diseases.
  • Review medical records.
  • Analyse known genetic studies.
  • Recommend genetic tests.
  • Advise on family planning issues if there are indicators (risk) of possible transimission of hereditary diseases.
  • Interpret the genetic information of the analysed individual.
  • May inform affected patients about results and risks, together with the rest of the medical team.
  • Advise and train doctors and scholars on the expression of potential genetic diseases.

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Centre per al desenvolupament professional Porta22

Barcelona Treball (Porta22)
Llacuna, 156-162, 08018 Barcelona

Monday to Friday from 9 to 18 h

Generalitat de Catalunya
Unió Europea FEDER
Unió Europea FSE