Polygenic Risk Scores: A game-changer for disease prevention and personalised healthcare.

Media Release

Genomics is revolutionising healthcare, and Polygenic Risk Scores (PRS) are at the forefront of this transformation.  By analysing thousands of genetic variants associated with common diseases, PRS provides powerful insights into an individual’s risk of developing conditions such as cardiovascular disease, cancer, and diabetes. This advancement is shaping the way for more effective prevention and personalised management strategies.

Integrating PRS with existing genomic services enhances its accessibility and impact.  AGRF is now offering PRS powered by the Allelica PREDICT module, a cutting-edge platform that translates genomic data into actionable risk assessments.  By combining PRS with genotyping technologies, healthcare providers can better stratify risk, identifying high-risk individuals earlier, and implement targeted interventions before potential disease onset.[1]

The benefits extend beyond individual patient care.  Public health initiatives can leverage PRS to refine population screening programs, ensuring resources are directed where they are needed most.  From informing precision screening strategies to strengthening primary care, PRS supports a shift from reactive to proactive healthcare.  With more accurate risk assessments, clinicians can offer tailored lifestyle and medical interventions, ultimately reducing disease burden and healthcare costs.

Human disease research also stands to gain significantly from PRS integration.  By analysing large-scale genomic data, researchers can uncover new genetic associations, refine disease models, and improve understanding of disease mechanisms.  This knowledge can accelerate the development of targeted therapies and inform drug discovery efforts, ultimately leading to more effective treatments and improved patient outcomes.

Dr Sibel Saya, a Research Fellow and an Academic Genetic Counsellor at the University of Melbourne, leads the CASSOWARY (Cancer genomic riSk ScOres in primary Care) trial, which evaluates the clinical utility and cost-effectiveness of multi-cancer PRS in general practice. “We chose to work with AGRF because of their proven expertise in genomics and their ability to deliver high-quality services.  We’re excited to bring the Allelica PREDICT analysis service into our research project and see how it helps us explore the real-world impact of polygenic risk scores in healthcare,” says Sibel.

As the integration of PRS into healthcare continues, its potential to strengthen primary care and public health efforts cannot be overstated. By leveraging the power of genomics with tools like Allelica PREDICT, we can move towards a future where prevention is personalised, disease risk is managed with precision, and medical research is propelled forward.

*Available as Research Use Only.

References
The University of Melbourne.  Melbourne Medical School.  The CASSOWARY trial: A Randomised Controlled Trial Of The Clinical Utility And Cost-Effectiveness Of A Multi-Cancer Polygenic Risk Score In General Practice.  Available at https://medicine.unimelb.edu.au/research-groups/general-practice-and-primary-care-research/cancer-in-primary-care/the-cassowary-trial-a-randomised-controlled-trial-of-the-clinical-utility-and-cost-effectiveness-of-a-multi-cancer-polygenic-risk-score-in-general-practice, Accessed 5 March 2025

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Tremblay, J., Haloui, M., Attaoua, R. et al. Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control. Diabetologia 64, 2012–2025 (2021). https://doi.org/10.1007/s00125-021-05491-7

Zhai, S., Zhang, H., Mehrotra, D.V. et al. Pharmacogenomics polygenic risk score for drug response prediction using PRS-PGx methods. Nat Communications 13, 5278 (2022). https://doi.org/10.1038/s41467-022-32407-