Skirton Heather, Cordier Christophe, Ingvoldstad Charlotta, Taris Nicolas, Benjamin Caroline
Faculty of Health and Human Sciences, Plymouth University, Plymouth, UK.
Department of Oncology and Haematology, Hospital of Strasbourg, Strasbourg, France.
Eur J Hum Genet. 2015 Apr;23(4):452-8. doi: 10.1038/ejhg.2014.116. Epub 2014 Jun 11.
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.
在欧洲，遗传咨询师受雇于专业遗传中心或其他专业单位。根据欧洲医学遗传学委员会的说法，遗传咨询师必须履行一系列职责，包括提供信息以及帮助客户在心理社会层面适应其遗传状况和处境。为了评估遗传咨询师履行其规定职责的程度，我们对已发表的相关科学证据进行了系统综述。我们使用相关检索词在五个相关电子数据库（医学期刊数据库、护理学与健康领域数据库、社会科学索引数据库、联合与补充医学数据库和心理学文摘数据库）中进行检索，并手工检索了四种特定主题期刊，以查找2000年1月1日至2013年6月30日期间发表的英文研究论文。在最初确定的419篇潜在论文中，有七篇符合该综述的纳入标准。对数据进行主题分析得出的主题为：（i）遗传咨询师提供护理的基本原理，（ii）适当的角色和职责，以及（iii）遗传咨询师工作量中所包含的病症类型。该系统综述的结果表明，在专业遗传环境中使用遗传咨询师时，并承担与直接患者护理相关的大量工作，而这似乎为患者所接受。鉴于遗传服务的负担，在遗传咨询师利用不足的国家，有理由增加对他们的使用。此外，遗传咨询师在专业遗传环境中所承担的角色可以进行调整，以便将遗传咨询师纳入其他专业的多学科团队。
