Gut. Brain. Science.

Background (extract)

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.

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.

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. 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. For example, genomic-based targeted treatments

for cancer; tailored medication prescribing guided by

pharmacogenomics; polygenic scores supporting stratification of the

population by disease risk for common conditions such as heart disease

and cancer; and population-based genetic screening, reducing

unnecessary interventions and improving healthcare at scale.

Precision medicine is listed as a future-focused healthcare priority by the

Commonwealth in ‘Australia’s Primary Health Care 10 Year Plan 2022–

2032’. 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.