How cutting-edge DNA sequencing is transforming disease detection

Next-generation DNA sequencing technologies can improve scientific understanding, diagnostic efficiency, and clinical decision-making to save millions of lives

Rapidly rising incidences of chronic diseases, including liver cancer and diabetes, are threatening to overwhelm Asia-Pacific health systems. Type 2 diabetes alone affects around 227 million people across the region; around half are undiagnosed and unaware of their risk of long-term complications¹. Cancer, meanwhile, is the second leading cause of death in the region, responsible for an estimated five million deaths in 2021¹.

These diseases are highly complex, influenced by hundreds or even thousands of different genes² — creating significant barriers in preventative care and scientific discovery of new therapeutics.

New diagnostics, however, are beginning to address the challenge. These next-gen tools play a vital role in improving health outcomes, from screening and prevention, to early detection of disease and diagnosis, to therapy monitoring and disease management.
Frequent screening and early detection, in particular, are key to reducing morbidity and mortality from chronic conditions.

Sequencing by expansion: a major leap towards precision medicine

One of the highest-potential breakthroughs in screening and detection is new DNA sequencing technology. After 10 years of R&D and failed experiments, a new, cutting-edge approach to evaluating DNA for the underlying causes of disease — sequencing by expansion (SBX) — is set to revolutionise the way DNA is sequenced and advance scientific research for the benefit of patients everywhere.

The challenge of conventional DNA sequencing is the molecule’s density; it’s very long and very tightly packed. That makes the genetic code difficult to read. DNA signals (the output that indicates the presence or quantity of a specific code) are weak. They’re hard to distinguish from other, unwanted signals or ‘background noise’, and it’s easy to mistake one nucleotide base (DNA building block) for another³.

SBX works by biochemically converting DNA into much longer — 50 times longer — more easily readable surrogate “Xpandomer” molecules. When threaded through millions of tiny pores on a reusable sensor, the Xpandomer boosts the signal clarity and allows for more precise measurement of the genetic code.

This approach is much faster than conventional DNA sequencing, which typically takes 1-2 days. It’s more accurate, allowing for effective diagnosis of rare and genetically complex diseases as well as cancer research. And it’s more flexible, with the versatility to adjust the read length depending on the application — from short to mid-range reads for detecting minor DNA changes that cause disease, to long reads suited to, for example, mapping the entire genetic makeup of a complex pathogen².

SBX can sequence both small and large batches of samples, too, meaning labs can quickly analyse small batches of urgent, critical samples, and can also quickly respond to surges requiring very high levels of throughput⁴.

As research demands grow or new project opportunities arise, the system can expand to meet new requirements without needing entirely new equipment or technology. Researchers can dive deeper, accelerating results and exploring experiments that may have been out of reach until now.

This scalability allows for studies of any size, from just a few patients with, for example, a rare disease or specific genetic mutation, to large-scale genomic projects involving thousands.

By improving speed, accuracy, flexibility and scalability in lab settings, we can also dramatically increase diagnostic capacity across the entire Asia-Pacific region. Healthcare systems can create new efficiencies in routine management of diseases with the highest burden — cancer, diabetes, cardiovascular disease and dementia — reducing the costs and complexity of improving population health.

And at the health system level, SBX can curb the spread of infectious diseases by identifying a virus or bacterium much more quickly², tackling one of the most common causes of death across all age groups globally⁵. In short, SBX can potentially improve outcomes across the entire healthcare ecosystem.

Time to act: accelerating precision medicine across Asia-Pacific

The healthcare landscape is changing at an unprecedented pace. With a growing population comes an increased disease burden, placing even more pressure on healthcare systems that are already overstretched. We urgently need scientific breakthroughs to meet today’s challenges — and tomorrow’s too.
Diagnostics like DNA sequencing will always play a critical role in driving these advancements. Next-gen technologies hold more promise than ever to understand the genomics of complex diseases like cancer, diabetes and neurodegenerative conditions in both research laboratories and clinical settings.

The potential for scientific discovery and prevention of disease is almost limitless — if we seize the opportunity. With pressure on health systems in the Asia-Pacific region only set to intensify, the time to innovate with faster, more personalised diagnostics is now.

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