The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
- 1Australian Institute of Health Innovation, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, Australia
Abstract
As genomic testing moves into mainstream healthcare, non-genetic healthcare professionals, including general practitioners (GPs), play a critical role as gatekeepers to genetic services. Laboratories are essential in supporting this transition by providing not only high-quality genetic tests but also point-of-care tools, educational materials and clinical guidance to support their use. This study aimed to explore how these tools and supports are conceptualized, developed, implemented and evaluated and how laboratories integrate them into their relationships with GPs, an essential process for paving the way toward better use of genomics in primary care. A qualitative study design was employed using semi-structured, in-depth interviews with representatives from genetic laboratories across Australia. The Consolidated Framework for Implementation Research (CFIR) guided deductive content analysis of data. Findings spanned the four CFIR domains (Intervention Characteristics, Outer Setting, Inner Setting and Implementation Process) across 34 constructs. Participants reported that laboratories viewed point-of-care tools and resources as essential responses to persistent genomic knowledge gaps among GPs. Development of evidence-based, practice-driven and adaptable resources was supported and rewarded within laboratory organisations. A strong culture of clinical responsibility and implementation readiness, combined with robust networks and communications, enabled timely support for GPs. Gaps identified included lack of implementation planning, misalignments between laboratory-developed resources and GPs’ real-world needs and inadequate mechanisms for obtaining GPs’ feedback, which made evaluation problematic. By applying an implementation science framework, these findings provide insights for future efforts to build and sustain the provision of point-of-care tools and support, ultimately improving the integration of genomics in primary care.
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BibTeX
@article{vizheh2026role,
title = {{The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective}},
author = {Maryam Vizheh and Samran Sheriff and Klay Lamprell and Romika Patel and Jeffrey Braithwaite and Janet C. Long},
journal = {European Journal of Human Genetics},
year = {2026},
month = sep,
doi = {10.1038/s41431-026-02213-8},
url = {https://doi.org/10.1038/s41431-026-02213-8},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - The role of pathology laboratories in integrating genetic testing into Australian primary care: an implementation science perspective
AU - Maryam Vizheh
AU - Samran Sheriff
AU - Klay Lamprell
AU - Romika Patel
AU - Jeffrey Braithwaite
AU - Janet C. Long
PY - 2026
DA - 2026/09/11
JO - European Journal of Human Genetics
DO - 10.1038/s41431-026-02213-8
UR - https://doi.org/10.1038/s41431-026-02213-8
AB - As genomic testing moves into mainstream healthcare, non-genetic healthcare professionals, including general practitioners (GPs), play a critical role as gatekeepers to genetic services. Laboratories are essential in supporting this transition by providing not only high-quality genetic tests but also point-of-care tools, educational materials and clinical guidance to support their use. This study aimed to explore how these tools and supports are conceptualized, developed, implemented and evaluated and how laboratories integrate them into their relationships with GPs, an essential process for paving the way toward better use of genomics in primary care. A qualitative study design was employed using semi-structured, in-depth interviews with representatives from genetic laboratories across Australia. The Consolidated Framework for Implementation Research (CFIR) guided deductive content analysis of data. Findings spanned the four CFIR domains (Intervention Characteristics, Outer Setting, Inner Setting and Implementation Process) across 34 constructs. Participants reported that laboratories viewed point-of-care tools and resources as essential responses to persistent genomic knowledge gaps among GPs. Development of evidence-based, practice-driven and adaptable resources was supported and rewarded within laboratory organisations. A strong culture of clinical responsibility and implementation readiness, combined with robust networks and communications, enabled timely support for GPs. Gaps identified included lack of implementation planning, misalignments between laboratory-developed resources and GPs’ real-world needs and inadequate mechanisms for obtaining GPs’ feedback, which made evaluation problematic. By applying an implementation science framework, these findings provide insights for future efforts to build and sustain the provision of point-of-care tools and support, ultimately improving the integration of genomics in primary care.
SN - 1018-4813
SN - 1476-5438
ER -