ASHA journals
4 files

Barriers/enablers to genetics in speech-language pathology (Lauretta et al., 2023)

online resource
posted on 2023-09-15, 18:36 authored by Mariana L. Lauretta, Anna Jarmolowicz, David J. Amor, Stephanie Best, S Best, Angela T. Morgan

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists’ (SLPs’) consideration of incorporation of genetics in clinical practice using a theory-informed qualitative approach.

Method: Semistructured interviews were conducted with 12 pediatric SLPs using a behavior change theory (Theoretical Domains Framework [TDF]) within a case study describing a child with complex co-occurring features, including childhood apraxia of speech. Interviews focused on three stages of the patient journey (prereferral, referral, and postreferral). Interviews were analyzed to identify barriers and enablers to considering incorporation of genetics in current clinical practice. Barriers and enablers were grouped and mapped onto a contextually relevant TDF-coded analysis framework.

Results: Barriers were identified across several TDF domains, through all stages of the patient journey. Lack of confidence, relevance, and level of experience were most common prereferral, and connection to and awareness of genetics services and contextual factors were barriers in the referral stage. Perception of professional role, knowledge, and beliefs about effects on families were barriers postreferral. Associated enablers were also identified, including seeing value in genetic diagnosis, support from other health care professionals, supervision, and relationships with genetics services.

Conclusions: Results of this qualitative study highlight barriers and enablers to incorporating genetics into speech-language pathology clinical practice. These findings will assist in the development of theory-informed implementation strategies to support SLPs into the future.

Supplemental Material S1. Clinical vignette.

Supplemental Material S2. Interview guide.

Supplemental Material S3. TDF domains in context.

Supplemental Material S4. Complete list of barriers and associated enablers.

Lauretta, M. L., Jarmolowicz, A., Amor, D. J., Best, S., & Morgan, A. T. (2023). An investigation of barriers and enablers for genetics in speech-language pathology explored through a case study of childhood apraxia of speech. Journal of Speech, Language, and Hearing Research. Advance online publication.

Publisher Note: This article is part of the Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium.


This work was supported by National Health and Medical Research Council (NHMRC) Centre of Research Excellence in Speech and Language Neurobiology Grant 1116976 and NHMRC Project Grant APP1127144, awarded to Angela T. Morgan. NHMRC Practitioner Fellowship Grant 1105008 and Investigator Grant 1195955 were awarded to Angela T. Morgan. Stephanie Best was supported through the Australian Genomics National Health and Medical Research Council (Grant GNT2000001) and the Australian Government’s Medical Research Future Fund. This study was completed in partial fulfillment of the requirements for the Master of Genetic Counselling, The University of Melbourne, Victoria, Australia. This work was also supported by the Victorian Government’s Operational Infrastructure Support Program.