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Eur J Hum Genet. 2015 Apr;23(4):452-8. doi: 10.1038/ejhg.2014.116. Epub 2014 Jun 11.

The role of the genetic counsellor: a systematic review of research evidence.

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  • 1Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
  • 2Department of Oncology and Haematology, Hospital of Strasbourg, Strasbourg, France.
  • 3Department of Public Health and Caring Science, Uppsala University, Uppsala, Sweden.
  • 4School of Health, University of Central Lancashire (UCLan), Preston, UK.


In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

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