Rhythm Biosciences Unveils Genetype Lung Cancer Risk Test Leveraging Genetic Data from 500,000 UK Participants

Rhythm Biosciences Advances Lung Cancer Screening Using Genetype Platform

Founded in 2017 and headquartered in Melbourne, Rhythm Biosciences Ltd has established itself as a pioneering cancer diagnostics company focused on developing simple, affordable blood tests for early cancer detection. The latest update highlights the expansion of its Genetype testing platform into lung cancer screening, addressing a major global health challenge.

Lung cancer remains the leading cause of cancer mortality worldwide, accounting for approximately 1.8 million deaths annually. Early detection through low-dose CT (LDCT) screening can reduce mortality by up to 24% in high-risk populations, underscoring the need for enhanced risk identification tools. By integrating its proprietary Genetype technology with genetic and clinical data, Rhythm aims to fill gaps in current screening methods that primarily rely on age and smoking history.

Combining Genetic and Clinical Factors in the New Genetype Lung Cancer Test

The Genetype lung cancer risk test represents an advanced personalized risk assessment tool. Its algorithm merges established clinical risk factors—including age, smoking history, weight, and family lung cancer history—with a polygenic risk score (PRS). The PRS aggregates the small effects of multiple genetic variants to estimate inherited disease risk. This combination offers a more comprehensive assessment of lung cancer risk than clinical factors alone.

This test was developed and validated using data from the UK Biobank, one of the largest health studies globally, encompassing detailed health, lifestyle, and genetic data from around 500,000 participants. The genetic component addresses a critical limitation in current screening: many at-risk individuals fall outside existing age and smoking-based criteria, resulting in missed lung cancer diagnoses.

Enhanced Predictive Performance Versus Australian Screening Guidelines

Compared to current Australian screening eligibility rules, the Genetype lung cancer test demonstrated significantly improved predictive performance. The Area Under the Curve (AUC) metric increased from 0.70 to 0.86, indicating superior discrimination between high- and low-risk individuals. Practically, this translated to identifying 42% more lung cancer cases as eligible for screening than existing criteria.

This improvement addresses a notable public health gap, as current US and Australian guidelines based on age and smoking history exclude many who could benefit from screening. The Genetype test’s ability to identify additional at-risk groups—including light smokers outside current cut-offs—may enable earlier diagnosis. Unpublished data referenced by the company supports incorporating genetic risk into national lung cancer screening programs in both countries.

Reducing Screening Stigma and Boosting Participation Through Genetic Insights

Beyond technical advancements, Rhythm highlights the psychological barrier of stigma associated with lung cancer screening, often linked to smoking history. Some current or former smokers may avoid screening due to shame or self-blame, despite potential life-saving benefits. By demonstrating a significant genetic contribution to lung cancer risk, the Genetype test could help reduce stigma and encourage higher screening uptake.

This approach acknowledges that effective screening depends not only on accuracy but also on patient willingness. Presenting lung cancer risk as influenced by inherited factors, not solely behavior, may improve participation rates and early detection outcomes. Expanding screening eligibility through genetics-informed methods could facilitate earlier identification and better patient prognoses.

Applicability Across US and Australian Healthcare Systems

The Genetype lung cancer test is designed for use in both US and Australian healthcare environments, offering potential market opportunities in these major jurisdictions. Both countries have established LDCT screening programs, providing infrastructure for potential test integration. The company notes that further validation and regulatory approval will be necessary before clinical implementation.

This phased market entry approach aligns with typical diagnostic test development, requiring evidence generation and regulatory navigation. The test’s cross-border functionality enhances commercial prospects and supports Rhythm’s pursuit of approvals across multiple healthcare systems.

Integration With ColoSTAT and Rhythm’s Comprehensive Cancer Diagnostic Suite

Dr Erika Spaeth, Director of Clinical Affairs at Rhythm, contextualizes the lung cancer test within the company’s broader strategy. She states the Genetype lung cancer test "complements the work we are doing on blood-based biomarkers designed to ultimately be a screen for lung cancer," aiming for a longitudinal disease screening approach similar to that for bowel cancer using Genetype alongside ColoSTAT®.

ColoSTAT is Rhythm’s existing blood-based colorectal cancer detection test measuring five protein biomarkers. The company envisions coordinated multi-cancer screening combining genetic risk assessments (Genetype) with biomarker tests (ColoSTAT and future lung cancer biomarkers). This integrated model reflects successful longitudinal screening strategies and positions Rhythm as a provider of comprehensive cancer prevention solutions.

Production Transfer and Commercialisation Plans

Rhythm plans to move the lung cancer risk test into production within the next quarter, advancing toward commercial availability as part of its Genetype portfolio. This progression signals a shift from research to clinical service readiness, leveraging existing distribution, healthcare provider partnerships, and genetic counseling infrastructure established for other Genetype tests.

The Genetype platform currently delivers risk assessments for breast cancer, cardiovascular disease, diabetes, colorectal cancer, prostate cancer, and melanoma. Adding lung cancer risk assessment broadens Rhythm’s preventative health offerings and taps into growing demand in precision medicine and early detection markets.

Commitment to Research Validation and Peer Review

The company confirms plans to submit the lung cancer test research for independent peer review, ensuring rigorous scientific validation prior to commercialisation. Peer-reviewed publication will enhance credibility, facilitate clinical adoption, and support regulatory submissions and guideline integration.

This transparent approach underscores Rhythm’s dedication to establishing a robust evidence base, aligning with industry standards and aiding dialogue with regulators, healthcare systems, and clinical committees.

Rhythm Biosciences’ Positioning in Precision Medicine and Preventative Healthcare

The Genetype lung cancer test development places Rhythm Biosciences at the forefront of the expanding precision medicine and preventative healthcare sectors. These fields emphasize personalized risk prediction and early detection to improve outcomes and reduce costs. Rhythm’s integration of genetic and clinical data aligns with global trends toward genomics-driven medicine.

By expanding its multi-disease Genetype platform, Rhythm achieves operational efficiencies and scalability across conditions. The test’s applicability in US and Australian settings and the company’s intent to collaborate with global partners highlight its international growth ambitions. As healthcare systems increasingly prioritize early cancer detection and personalized care, Rhythm’s diagnostic innovations are well positioned to meet evolving clinical and market demands.