The study establishes a model for integrating whole-genome sequencing into primary care, showing actionable findings in over 20 % of asymptomatic individuals.

A new peer-reviewed study published in Scientific Reports (Nature Portfolio), entitled “A feasibility study of whole-genome germline testing as an adjunct screening tool in a UK general private practice,” provides clear evidence for the feasibility and clinical impact of implementing whole-genome sequencing (WGS) within a primary care setting.

Led by The London Genetics Centre and its genetic consultation team, with scientific collaboration from Veritas Genetics, the research represents the first systematic evaluation of genome-wide testing in asymptomatic individuals attending a general medical practice in the United Kingdom. The study integrates WGS data with clinical assessment, pharmacogenomic analysis, and polygenic risk scoring (PRS), creating a comprehensive model for preventive medicine.

Key Findings

The study enrolled 104 asymptomatic participants, combining genome sequencing with detailed medical evaluation. Its findings demonstrate the clinical and operational feasibility of applying genomic testing in primary care to guide preventive decision-making. 

Key findings indicate that 22% of participants harbored germline variants classified as pathogenic or likely pathogenic, necessitating immediate clinical action. These high-impact variants predominantly involved loci implicated in hereditary oncological syndromes, cardiovascular disorders, and thromboembolic risk. Furthermore, 41% of the cohort possessed pharmacogenomic variants (PGx) with documented implications for drug disposition, therapeutic efficacy, and dose optimization.

The analysis incorporating Polygenic Risk Scores (PRS) provided orthogonal predictive utility for common malignancies, specifically prostate, breast, colorectal, and ovarian cancer, thereby validating the enhanced predictive power achieved through the concurrent assessment of monogenic and polygenic risk architectures. Crucially, the diagnostic yield was augmented by up to 60%, as several clinically actionable variants identified would have been omitted under the limitations of the existing National Genomic Test Directory (UK) criteria.

Towards the integration of Genomics in Primary Care

This research demonstrates that integrating genomic data into primary care is both clinically meaningful and logistically viable, providing critical insights to physicians managing healthy individuals. The incorporation of genomic risk profiling enables earlier disease detection, proactive monitoring, and individualized prevention strategies.

According to Dr. Luis Izquierdo, MD, Chief medical officer at Veritas Genetics:

“This study provides clear evidence that genome-wide testing can be implemented effectively in real-world medical practice. Whole-genome sequencing enables clinicians to identify risk before symptoms arise, optimize pharmacotherapy, and deliver truly personalized preventive care.”

Driving the evolution of precision health

This publication represents a major scientific endorsement of the Veritas Genetics strategic vision that whole-genome sequencing should be incorporated as part of healthcare routine in asymptomatic populations as a cornerstone of preventive and precision medicine.

By combining monogenic, pharmacogenomic, and polygenic information, Veritas anticipated the clinical model now being adopted by leading healthcare systems, including those in the United Kingdom and Spain.

“These findings validate the direction Veritas has pursued for years: the future of prevention lies in the genome. The integration of comprehensive genomic data within standard care marks a paradigm shift—from reactive to predictive medicine—placing the individual at the center of health management.”- stated Bibiana Palao , Chief Product Officer at Veritas Genetics. 

The results published in Scientific Reports underscore that whole-genome sequencing in primary care is not only feasible and clinically relevant, but also an essential step toward data-driven, preventive healthcare.

For Veritas Genetics, this milestone strengthens its commitment to advancing the adoption of comprehensive, clinically validated genomic testing as part of standard preventive care, reinforcing its leadership in the field of precision and population genomics.

About  Veritas Genetics

Veritas Genetics is a leading clinical genomics company offering advanced human-genome sequencing and interpretation services to enable accurate diagnosis, personalized prevention, and improved healthcare decision-making.

Its portfolio supports healthcare professionals across preventive genomics, genetic diagnostics, oncology, cardiology, pharmacogenomics, and reproductive medicine.

Veritas Genetics combines scientific excellence with cutting-edge technology to promote the integration of genomics into daily clinical practice and to advance a more predictive, preventive, and personalized model of healthcare.

Through a continued commitment to innovation and accessibility, the company works to transform how health and wellness are understood and managed worldwide.