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.

Developing genetic counseling for male BRCA1/2 mutation carriers based on their own experiences

“…[26,27] Our participants also mentioned that they received inadequate written material, in line with findings that most women with breast or ovarian cancer were inadequately prepared because of lack of pre-information. [28] Moreover, they strongly believed that DCGs provided insufficient facilities for psychosocial support, like counselees with hereditary cancer in a previous study, which suggested that counselees should have opportunities to receive psychosocial support through the GC process [22] regardless of their educational background. Educational background is potentially relevant in this context as there are indications that counselors may propose psychological services to highly educated counselees more often than to others.…”

“…This too is consistent with views of participants in another study, that creating a user-friendly website with informative and understandable language, and blogs for peer support, would be useful. [22] 4.1 Limitations Several limitations and strengths affect the trustworthiness of this study. The strengths include the size of the group of male BRCA1/2 mutation carriers that participated, and both the richness and saturation of the acquired data.…”

“…The participants also articulated a need for charted psychosocial support, and a male-specific support group for male carriers, in line with previous reports. [14,22] A support group has clear potential benefits as it offers participants opportunities to discuss and share experiences with others, and to receive new information from health-care professionals. [14,34] Proposals for a protocol for BRCA1/2 GC testing and GC tailored to counselees needs, based on studies of the psychological impact of BRCA1/2 testing, [35] and also consistent with our findings.…”

“…Shortening times between GC and the disclosure of genetic test results may be especially important, as this can be an emotionally stressful time for hereditary cancer counselees. [22] It is also apparently important for DCGs to take account of counselees' suggestions about GC provisions, especially possibilities to provide GC because by telephone if they have to travel long distances for physical visits. Although GC and receiving genetic test results face-to-face were important for participants, there seemed to be a desire for this option, in accordance with previous findings that female and male counselees of a BRCA predictive test wanted the ability to decide how the test result was disclosed.…”

Families’ experience of oncogenetic counselling: accounts from a heterogeneous hereditary cancer risk population

“…As background to the study, we relied on literature about the effects of chronic illness on: family functioning [39,42], familial aspects of inherited risk [4,5,43,51], and prior research findings [52].…”