Harnessing the power of next-gen sequencing in Asia Pacific

What if new advanced chemistry technologies could improve scalability and increase efficiency to better understand Asia-Pacific’s leading causes of disease?

As the Asia-Pacific (APAC) region’s populations grow and age, the disease burden on already overstretched systems is intensifying. In South East Asia alone, the WHO expects the prevalence of cancer to rise by 86% by 20501. Over the same period, the number of people living with dementia in the Asia Pacific region will triple2. Cardiovascular mortality is projected to double3.

These diseases are complex. Their progression isn’t fully understood. So how can we improve our knowledge of oncology, neurology, cardiovascular disease (CVD) and other chronic diseases — so we can make the scientific breakthroughs that save lives? 

We need to screen for them sooner, and more often. We need to be able to sample genomes in more lab settings, in less time. If we can reduce the time it takes to sample a genome from days to hours with a novel approach, we can significantly accelerate genomic research and its clinical applications in the years to come.

A new class of sequencing chemistry

This is the goal of next-generation sequencing (NGS): by reimagining how we read genetic information, new technologies can give us the diagnostic insights clinicians need to detect complex, chronic diseases earlier. We can better understand how they affect our bodies. 

It works by using a biochemical process to convert DNA information into an expanded synthetic surrogate — a molecule 50 times longer than the original target. As this surrogate molecule passes through a nanopore, it produces clear, distinct signals with minimal background noise. The result is an unrivalled combination of accuracy, speed, and flexibility that empowers researchers to dive deeper into genomic data than ever before.

Enhancing access in APAC

For the region’s diverse demographics and healthcare infrastructures, this leap in technology creates new, practical solutions to long-standing barriers to diagnostic access and accuracy.

  • Flexibility and scalability for population health

Historically, labs needed separate platforms for different DNA read lengths, like short reads for counting applications or long reads for structural variant detection.

Sequencing by Expansion (SBX) technology redefines flexibility by offering adjustable throughput on a single system. It’s capable of handling a versatile range of read lengths spanning 50bp to 1500bp. Whether tackling small, urgent batches for targeted clinical diagnostics or large-scale population studies requiring longer read capabilities, this all-in-one capability significantly lowers the barrier to entry for labs across the region–enabling them to seamlessly pivot across various NGS applications.

  • Efficiency in standard laboratories

Speed is critical when life-changing clinical decisions hang in the balance. By accurately detecting hundreds of millions of bases every second, SBX reduces the sample-to-genome time from days to hours.

And unlike the fixed run times in the current generation of systems, a novel NGS solution enables sensor modules to operate for just a few minutes or several hours depending on the application. This efficiency enables standard laboratories to generate real-time, actionable data without the need for complex, restrictive infrastructure.

Real-world applications

The versatility of expanded sequencing capabilities open new doors across critical therapeutic areas, offering a level of depth that goes beyond standard screening.

  • 1. Oncology and early cancer detection

The Asia-Pacific region bears a unique cancer burden, accounting for 60% of lung cancers worldwide. Lung cancer is the leading cause of death in our region4. Lung cancer is not only one of the deadliest non-communicable diseases (NCDs) but one of the highest-cost too: estimates suggest that the disease could account for $3.9 trillion in global healthcare spending between 2020 and 20505.

But early detection is often hindered by the technical limitations of current liquid biopsy methods. The “noise” inherent in standard sequencing can obscure the faint signals of circulating tumour DNA (ctDNA)6

NGS chemistry reduces the background noise, giving clinicians the sensitivity they need to detect rare, low-frequency variants associated with early-stage disease. With a much more detailed view of the genome, researchers can move beyond generic screening to develop population-specific biomarkers — and accelerate the discovery of more effective, targeted therapies.

  • 2. Neurodegenerative disorders

Research into conditions like Parkinson’s, Alzheimer’s, and inherited ataxias has largely relied on data that fails to capture the full spectrum of genetic risk in Asian populations7

Many of these disorders are driven by complex structural variants and “repeat expansions” — long, repetitive stretches of DNA that act as stuttering genetic code, which standard short-read sequencing struggles to analyse intact.

NGS’ ability to generate long, continuous reads from an expanded surrogate molecule, however, allows researchers to capture these complex sequences entirely, revealing pathogenic mechanisms that were previously invisible in fragmented data.

  • 3. Cardiovascular and cardiometabolic disease

Cardiovascular disease (CVD) and Type 2 diabetes are often influenced by a complex interplay of hundreds of genetic markers. This has made them difficult to predict with simple single-gene tests.

And because global genomic research has historically underrepresented Asian populations, predictive tools like Polygenic Risk Scores (PRS) — often face ‘accuracy gaps’ in external datasets — lacking the precision that diverse communities across our region require. Current Polygenic Risk Scores (PRS) are several times less accurate for people with non-European ancestry8. While NGS has long been the engine of discovery, its high cost and complexity meant that data collection was previously concentrated in Western centres.

But by introducing versatile, high-throughput NGS into regional labs, researchers can finally generate high-quality, population-specific data at scale to close this divide, moving beyond biased external datasets to build precision medicine tools that are accurate and relevant for the patients they’re meant to serve.

And for the patients themselves, NGS empowers clinicians to shift from reactive treatment to proactive prevention. We could now identify at-risk individuals years before a cardiac event or metabolic dysregulation occurs, paving the way for earlier lifestyle interventions and more precise pharmacogenomic strategies.

  • 4. Newborn care and rare diseases

In neonatal intensive care, undiagnosed genetic conditions are a leading cause of mortality9. The speed and breadth of genomic insight often make the difference between uncertainty and a life-saving intervention.

But for some families — especially those with infants who develop a rare disease — the wait for answers can last seven years or more. They may still be left without certainty due to the fragmented nature of testing10.

NGS’s analytical breadth empowers researchers to replace a piecemeal approach to diagnosis with rapid Whole Genome Sequencing (WGS). By delivering comprehensive genomic insights — capturing everything from single nucleotide changes to large structural anomalies — in a matter of hours rather than weeks, researchers can drastically improve diagnostic yield.

This efficiency is vital for diverse healthcare settings in the Asia-Pacific region, ensuring that a child’s access to a life-saving diagnosis is determined by the speed of the technology, not the limitations of local infrastructure.

The wide-open opportunity for impact

NGS’s immense potential to save lives can’t be understated. The technology can help us better understand many of the leading causes of mortality in the Asia-Pacific region and across the world. It can give clinicians the certainty they need to make the right intervention, at the right time. It can finally give patients the answers they deserve. 

Our task now is to ensure more families can access these insights. If we can scale NGS advancements across Asia-Pacific health systems, we can create enormous, positive change — and we mustn’t delay. 

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Disclaimer: The Sequencing by Expansion (SBX) technology is in development and not commercially available. The content of this material reflects current study results or design goals.

References

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