What is ideal genetic counselling? A survey of current international guidelines

Abstract

The objective of this article is to review guidelines that address counselling in the context of genetic testing in order to summarise what aspects of counselling they consider most important, and to examine how they construct the ideal of genetic counselling. Guidelines were collected by examining the websites of different international professional, political, ethical and patient organisations, either previously known or found with the help of the Google search engine, and also using references listed in other studies. The most frequently mentioned topics in the collected 56 guidelines were sought, and this was carried out with the software package Qualitative Solutions and Research for Non-numerical Unstructured Data Indexing Searching and Theorizing. Topics related to genetic counselling that were mentioned in at least 30 of 56 collected documents were considered to be the most important aspects of genetic counselling. The ideal of genetic counselling is expressed in the analysed guidelines as being composed of (1) an appropriately trained professional who understands genetics and its ethical implications well; (2) relevant and objective information; (3) assurance of the counsellee's understanding; (4) psychological support; (5) informed consent; (6) confidentiality of genetic information; (7) considering familial implications; (8) appropriate handling of potential discrimination of testing; and (9) assuring autonomous decision-making by the counsellee. The ideal of genetic counselling is rather consistent in the guidelines, but there are some contradictions between the requirements of objective information-giving and adapting counselling to counsellee's circumstances.

Online genetic counseling from the providers’ perspective: counselors’ evaluations and a time and cost analysis

“…It also raises the question of 'what is good care?' Our counselors' moderate satisfaction with online counseling does not necessarily imply that the provision of counseling was suboptimal: most of the identified key aspects of genetic counseling reported by Rantanen et al were met, 23 and thus could objectively be regarded as 'good care'. However, we acknowledge that greater counselor satisfaction, for example, by technical improvement of the system, by creating increased awareness of the potential advantages, and perhaps by increasing their experience or familiarity with it, would further increase the acceptance of this new option, as several applied theories suggest.…”

Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study

“…21,22 Previous studies on quality of genetic counselling have been mainly focused on outcomes and have been frequently related to changes in reproductive behaviour and/or client knowledge among other factors, although we believe that effectiveness in genetic counselling remains fundamentally related to its process. A review by Pilnick et al 23 highlighted the gap in our knowledge of the relationship between outcome and process, emphasising the need to identify specific components of the process that results in the consultant's satisfaction and the factors that are likely to influence it.…”

Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives

“…1 Questions about legislation, guidelines and generally applied practices of genetic counselling were formulated on the basis of the topics that came up in international guidelines for genetic counselling. 3 By legislation, we mean official laws passed by the parliament or government, or any additional documents the respondents considered to be legally binding. By guidelines, we mean professional or other best practice recommendation papers.…”

“…1 Because of the manifold situations faced in genetic counselling, it has been seen as important to consider how it is defined and what aspects need to be covered in a counselling session. 2 As the ideals of genetic counselling, set in international guidelines, are rather strong and uniform, 3 it is important to know how they are put into practice in the national regulations and practices of genetic counselling. In international guidelines, an ideal counselling session is seen as requiring an appropriately trained professional, who understands genetics and its ethical implications well, providing relevant and objective information, promoting its understanding by the patient, offering proper psychological support, respecting the confidentiality of genetic information, dealing adequately with the familial implications and potential discrimination, and ensuring informed consent and autonomous decision-making by the counsellee.…”

“…In international guidelines, an ideal counselling session is seen as requiring an appropriately trained professional, who understands genetics and its ethical implications well, providing relevant and objective information, promoting its understanding by the patient, offering proper psychological support, respecting the confidentiality of genetic information, dealing adequately with the familial implications and potential discrimination, and ensuring informed consent and autonomous decision-making by the counsellee. 3 Although these ideals are expressed rather uniformly in international guidelines, they may be read differently in different countries. According to the studies of Wertz and Fletcher 4,5 autonomy of the counsellee, a nondirective approach, confidentiality, and the privacy of genetic information were emphasized considerably more in the English-speaking nations and in Western Europe than anywhere else.…”