Developing Genetic Counselling Standards of Practice Regarding Genetic Testing for Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia: A Mixed-Methods Approach

University of Technology Sydney. Graduate School of Health. Genetic testing has become part of the multidisciplinary care of people with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Although uptake of testing for ALS/FTD-associated genes is expected to increase with the emergence of genotype-driven therapy trials, not all people with ALS/FTD or their relatives will wish to proceed. Genetic counselling, which accompanies genetic testing, enables individuals to make informed decisions about diagnostic, predictive or reproductive testing and minimises adverse outcomes. There is limited research in this area, and there are no consistent, evidence-based genetic counselling approaches for ALS/FTD. Four inter-related studies were conducted to address the research gaps, guided by a pragmatic philosophical worldview and using systematic literature review methods and a mixed-methods exploratory sequential design. A systematic review sought to understand current genetic counselling and testing practices for late-onset neurodegenerative diseases and to assess whether current practices address genetic counselling goals. A scoping review mapped the available literature on genetic testing and counselling experiences and decision-making to understand the perspectives of people with ALS/FTD and their families. Based on the review findings, the third study examined qualitatively clients’ experiences of diagnostic genetic testing and counselling for ALS/FTD. The final study was informed by the previous three studies and involved an online, modified Delphi survey aimed at developing genetic counselling practice standards for diagnostic testing amongst health provider and consumer experts. The findings confirm that a client- and family-centred approach to care that considers the unique context in which clients and their families engage in genetic counselling is essential. The client–counsellor relationship is also integral to a positive genetic counselling experience. Given the varied health systems, resource availability and client needs, standards of practice require both rigidity and flexibility. The findings align with genetic counselling theory and practice in other areas, which can inform care in ALS/FTD. The genetic counselling standards of practice proposed in this project can be flexible to clients’ needs, individualised to local contexts and implemented in various service delivery models. Information/support resources and screening tools could complement practice by allowing more clients to access and benefit from genetic counselling. Genetic counsellors could be positioned to support other genetic counselling providers through mainstreaming in multidisciplinary ALS/FTD clinics. This unique contribution to the ALS/FTD genetic counselling literature informs the care of families at risk of ALS/FTD and other diseases. The findings are critical as demand for genetic testing increases with the advent of precision medicine.