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Genomics and precision medicine: The expanding role of general practitioners

Resource type
Authors/contributors
Title
Genomics and precision medicine: The expanding role of general practitioners
Abstract
Background Precision medicine tailors an individual’s healthcare to their genetics, environment and behaviour. This has been driven by rapid advances in genomics, where an individual’s entire genetic code can now be sequenced. General practitioners (GPs) are increasingly involved in genomics throughout the lifespan, including performing prenatal screening during pregnancy, requesting reproductive genetic carrier screening and arranging genetic referrals for cancer and other conditions. Patients are relying on their GPs to appropriately counsel, test, refer and manage genetic conditions, and provide genomic healthcare. Objective This article provides an overview of the GP’s expanding role in genomic medicine, some tools to assist GPs to navigate this landscape, and barriers to genomic uptake. Discussion GPs are integral to supporting patients and families in the genomics and precision medicine era. Resources specifically aimed at, and codesigned with, GPs are required to enable broader and equitable access for the benefit of all Australians. Now more than ever, general practitioners (GPs) have a key role in genomic medicine. With their existing expertise in risk screening and family- and patient-centered care, GPs are already arranging genetic testing of chromosomes and single genes and arranging referrals for genomic testing (incorporating an individual’s entire genetic makeup). Genomic medicine is increasingly relevant for GPs caring for their patients across their lifespans, covering pregnancy-related screening, cancer, cardiology, neurology and many other areas of medicine.1–4 Recent rapid advances have led to cheaper, more accurate and faster genomic testing and screening options and the emergence of advanced therapies for conditions such as cancer, neuromuscular disease and genetic blindness.5 This has paved the way for precision medicine – defined as a tailored healthcare approach incorporating relevant genetic, environmental and behavioural information into a person’s care. This offers a major new frontier in medicine and much promise for disease prevention and cure.6 For example, genomic-based targeted treatments for cancer; tailored medication prescribing guided by pharmacogenomics;7 polygenic scores supporting stratification of the population by disease risk for common conditions such as heart disease and cancer;8 and population-based genetic screening,9 reducing unnecessary interventions and improving healthcare at scale.5,10 Precision medicine is listed as a future-focused healthcare priority by the Commonwealth in ‘Australia’s Primary Health Care 10 Year Plan 2022–2032’.11 The PRECISE (Practitioner Readiness, Education, Capabilities with Implementation Science Evaluation) genomics project is currently embarking on improving genomic resources for Australian GPs to support their provision of genetic healthcare. This paper will provide an overview of: - GPs’ expanding role in clinical genomics - tools and resources that can support GPs to navigate genomics - barriers to GP uptake of genomics.
Publication
Australian Journal of General Practice
Date
2026-02-01
Volume
55
Issue
1-2
Pages
72-78
Journal Abbr
Aust J Gen Pract
Accessed
2/19/26, 7:10 PM
ISSN
2208794X, 22087958
Short Title
Genomics and precision medicine
Library Catalog
DOI.org (Crossref)
Notes

Study Topic

This study provides an overview of the expanding role of general practitioners in genomics and precision medicine, including key responsibilities, available tools, and barriers to wider genomic uptake.

Study Type

A narrative, descriptive overview article that synthesises current evidence and expert perspectives on the expanding role of general practitioners in genomics and precision medicine.

Key Findings

  • Rapid advances in genomics have enabled whole genome sequencing and faster, cheaper, more accurate genetic testing options, expanding their use in general practice
  • General practitioners are increasingly involved in genomics across the lifespan, including prenatal screening, reproductive carrier screening, and arranging genetic referrals for a wide range of conditions
  • Precision medicine, defined as healthcare tailored to an individual’s genetics, environment, and behaviour, represents a major emerging frontier in disease prevention and treatment
  • Significant barriers to broader genomic uptake persist, requiring resources that are specifically designed for and co developed with general practitioners to ensure equitable access
  • Use of local HealthPathways helped facilitate a rapid pathway to genetic diagnosis, enabling earlier coordination with clinical genetics and paediatric
  • Nepean Blue Mountains (NBM) HealthPathways is developing pathways on reproductive carrier screening and genomic testing that other Australian HealthPathways teams can adapt locally. NBM HealthPathways is described as an ‘integration enabler’ backed by a Primary Health Network–Local Health District partnership, indicating its function in aligning primary and secondary care for genomics

Citation
Bonakdar Tehrani, M., Hayward, J., Gusen, T., Makeham, M., Steinberg, J., Barnett, S., Wilkinson, D., Forwood, C., Lam, F., Williams, A., Baker-Marges, K., & Ma, A. (2026). Genomics and precision medicine: The expanding role of general practitioners. Australian Journal of General Practice, 55(1–2), 72–78. https://doi.org/10.31128/AJGP-02-25-7574