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The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe

European Journal of Human Genetics volume 30, pages 1432–1438 (2022)Cite this article

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A Correction to this article was published on 09 February 2023

This article has been updated

Abstract

Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of genetic disorders. In this context, the team dealing with such patients has evolved with the emergence of the Genetic Counsellor figure. The profession of Genetic Counsellor appeared in Europe in 1980, but it is still a much-debated profession and not yet recognized in all European countries. The aim of this research is to investigate both how a team should be composed in the care of patients affected by or at risk of genetic disorders and what the role of the Genetic Counsellor should be—the field of action and the competences. The research has been carried out at the European level, submitting an online questionnaire to geneticists who, having the ultimate responsibility for the diagnosis and being in the field for the longest time, expressing their opinion, can identify strengths and potential areas for improvement in genetic care. 200 responses were collected from all over Europe. This led to awareness of the importance of the role of the counsellor within the medical genetics multidisciplinary team, and, above all, what the counsellor’s skills and qualifications should be—for geneticists. Although this new profession has difficulties in being recognized in some countries, it seems clear that these highly competent professionals are essential for in-patient care and in the multidisciplinary team.

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Fig. 1: Distribution of the work country of our sample.
Fig. 2: Educational background required to access training for Genetic Counsellors.

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Data availability

The datasets generated and/or analysed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

Two of several authors of this publication are members of the European Reference Network for rare malformation syndromes and rare intellectual and neurodevelopmental disorders, ERN-ITHACA.

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No funding was needed.

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Authors and Affiliations

  1. Medical Genetics, University of Siena, Siena, Italy

    Francesca Catapano, Mohamed El Hachmi, Alessandra Renieri, Francesca Mari & Christophe Cordier

  2. Department of Genetics, SYNLAB Suisse SA, Lausanne, Switzerland

    Francesca Catapano, Mohamed El Hachmi, Natacha Ketterer-Heng, Michael Morris & Christophe Cordier

  3. Medical Genetics, Azienda Ospedaliera Universitaria Senese, Siena, Italy

    Alessandra Renieri & Francesca Mari

Authors
  1. Francesca Catapano
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  2. Mohamed El Hachmi
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Contributions

FC: developed the research project and wrote the manuscript. MEH: oversaw data collection. NK-H: took care of the online questionnaire and the link to be distributed. AR: was in charge of sponsoring this project and, above all, analysing the data collected. FM: identified the best statistical tests and analyses for data processing. MM: supervised the entire structure of the research project. Thanks to his experience, he reviewed the entire structure of the manuscript, from the contents to the English language. CC: coordinated the work of all by offering his experience in reading reality and proposing possible solutions for the problems that emerged from the research.

Corresponding author

Correspondence to Francesca Catapano.

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The authors declare no competing interests.

Ethical approval

For all participants involved in the present study, written informed consent was obtained from the subjects themselves. All methods were performed in accordance with the Ethical Principles for Medical Research involving Human Subject of the Helsinki Declaration.

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Catapano, F., El Hachmi, M., Ketterer-Heng, N. et al. The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe. Eur J Hum Genet 30, 1432–1438 (2022). https://doi.org/10.1038/s41431-022-01189-5

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