Experiencing genetic counselling for hereditary cancers: the client's perspective

Abstract

As genetic health care expands and genetic testing becomes more widely available, it becomes relevant to understand how individuals involved in genetic counselling are integrating this new information in health management and into their lives. This article examines the client's experiences of genetic counselling for hereditary cancers, which definitely play a major role in the assessment of their needs and also lead to improvement of the psychosocial focus in genetic counselling protocols. Methods include a semi-structured interview, administered in two focus groups, comprising 10 (5 + 5) participants after attending genetic counselling for hereditary cancers at a Portuguese public hospital. Findings suggest an experience embedded in two dimensions: (1) instrumental (goals, needs and decision making); and (2) emotional (uncertainty regarding genetic risk screening and an emotional complex). Ambiguity plays a crucial role, especially in two moments: (1) the hiatus between genetic testing and the screening results; and (2) after being confirmed as carrying a cancer susceptibility gene mutation. The spectrum of genetic illness comprises an intensely complex emotional experience that challenges individuals and their families in terms of health management, and personal and family planning. Recommendations are included in order to enhance the services available by expanding psychosocial support.