Genetic counseling and diagnostic genetic testing for familial amyotrophic lateral sclerosis and/or frontotemporal dementia: A qualitative study of client experiences

Abstract

Genetic counseling and diagnostic genetic testing is part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS, commonly called motor neurone disease, MND) and frontotemporal dementia (FTD). We explored client experiences of genetic counseling and diagnostic testing to inform the care of future families. Semi-structured interviews with individuals with ALS/MND/FTD or their relatives were conducted. The study was designed to include a wide variety of participants with varying disease status and abilities. Genetic counseling and diagnostic testing experiences were explored using interpretive description methodology. Bioecological theory was used as the framework for the reflexive thematic analysis. Eighteen individuals with ALS/MND/FTD or their relatives from 13 Australian families participated. Three themes were identified: sharing knowledge, (un)supportive care, and 'circumstance is everything'. Consistent with bioecological theory, one's genetic counseling experience was informed by individual circumstances, time, and proximal factors. These informed the level of information and support required in the genetic counseling process. Although some client circumstances cannot be changed, efforts could be made to enhance genetic counseling experiences by improving interactions between the client and their care team. Some clients may benefit from further discussions regarding the familial implications of genetic testing, and greater support with family communication. Clients' needs were derived from the data and will contribute to genetic counseling consensus guidelines.

Keywords: amyotrophic lateral sclerosis; communication; frontotemporal dementia; genetic counseling; genetic testing; motor neurone disease.

FIGURE 1

Visual outline of findings. Three themes were formulated and mapped to Bronfenbrenner’s PPCT model of bioecological theory (Bronfenbrenner & Evans, 2000). The first two themes, sharing knowledge and (un)supportive care, encompass two key genetic counseling goals: Providing information and support. In both of these themes, interactions with others were at the forefront and could be either barriers or facilitators to a positive genetic counseling experience. These interactions occurred between the client and members of the family (e.g., carers and relatives) and those external to the family (e.g., health professionals, peers, and support associations). Underpinning these two themes was the third theme, ‘circumstance is everything’. Circumstances were unique to each individual and influenced the level of information and support required and provided. Two key aspects of genetic counseling were identified, occurring either concurrently or independently: The genetic testing process (including decision‐making and adjustment after results) and managing knowledge within the family (including family communication about testing and family history)