Next-generation sequencing & SBX: 5 exciting things to know

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Next-generation sequencing

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Hold onto your lab coats! Whether you're a science enthusiast or just curious about the future of healthcare, next-generation sequencing (NGS) is where the magic happens.

Although genetic testing and sequencing technologies have been around for a long time, Roche is accelerating science with an entirely new class of next-generation sequencingby developing sequencing by expansion (SBX) technology. Here are five exciting things you should know about NGS and how we’re tackling today’s most urgent and complex challenges.

1. NGS can help decode your genetic blueprint

Picture this, a super-powered decoder that reads every letter - your DNA - in the book of life - your genome. That's what NGS does! This cutting-edge technology helps scientists decode your genetic blueprint quickly and accurately. It's like reading a massive instruction manual at lightning speed, helping doctors and researchers uncover vital information about your health. With NGS, scientists can understand why some people develop certain diseases, how to prevent them, and the best ways to treat them.

2. NGS can reveal how genes contribute to illness

NGS enables scientists to explore the intricate details of a DNA, revealing how thousands of genes interact and contribute to complex conditions such as cancer, diabetes and neurodegenerative diseases. For example, in cancer research, it offers detailed views of tumour DNA for more accurate diagnoses and personalised treatments. For neurodegenerative disorders, NGS can detect genetic mutations before symptoms appear, fostering breakthroughs in diagnosis, treatment and prevention.

3. With NGS, disease diagnosis can be faster and more accurate, leading to more efficient and effective care

NGS provides a comprehensive view of one’s genetic makeup, enabling quicker and more precise disease diagnosis. This supports timely clinical decisions and helps identify conditions like cancer and genetic disorders early. Accurate diagnosis reduces trial-and-error in treatment, minimising ineffective treatments and hospital stays. With more cost-effective and scalable options on the rise, genetic testing can become a reality for more people, making early detection and intervention of complex health conditions more accessible. More than that, use of upfront NGS testing in patients with complex health conditions can have a far-reaching positive economic impact. For every dollar invested in healthcare, there is an expected economic return of 2 to 4 dollars, boosting health and efficiency.

A male scientist wearing safety glasses and a white Roche lab coat observes samples inside a lab instrument, reflecting his focus and the lab environment around him

4. Roche’s sequencing by expansion (SBX) technology makes NGS fast and flexible

The demand for faster and more flexible NGS solutions is rising. At Roche, we take the time to understand the critical needs and pain points from health professionals inside and outside of laboratories to develop solutions that create value across the patient journey. Our unique position, with both diagnostics and pharma expertise, sets us apart in addressing complex healthcare challenges, particularly in oncology, neurology, cardiometabolic and infectious diseases. With SBX, we combine accuracy, speed and flexibility, allowing investigators to dive deeper, accelerate results and explore new experiments.

5. SBX enables to sequence a human genome at higher speed

Roche’s SBX technology converts DNA information into an expanded molecule called an Xpandomer, allowing for single-molecule sequencing without compromising accuracy. According to Sean Hofherr, Chief Clinical Strategy and Product Development at Broad Clinical Labs, the sequencing by expansion technology allowed them to sequence three human genome samples - representing a mom, a dad and the individual who is the focus of the research genetic study - in just 7 hours and 8 minutes. Why is this relevant? A faster and accurate genetic test result can significantly impact how doctors manage life-threatening situations and intervene with lifesaving treatments, particularly in settings like neonatal intensive care units (NICU). Even when they don’t lead to a diagnosis, NGS tests can give crucial information to support clinical decisions and options of care for better health outcomes. This is also a reality for cancer care, rare diseases disorders and neurodegenerative conditions. In addition to benefitting the patient, unlocking the potential for timely care has also a larger economic benefit, reducing time spent in the hospital, making beds available sooner and avoiding unnecessary procedures.

NGS technology will undoubtedly be at the forefront of many scientific and medical discoveries over the next decade. What excites us the most is that embracing this technology potentially leads to better treatments, healthier lives and stronger societies. Innovation is in our DNA, and we’re passionate about making the next breakthrough that transforms healthcare for all. Expanding the possibilities in the NGS space with our SBX technology is just the beginning of harnessing the power of sequencing to support future clinical decisions that make a lasting impact on patients and health systems we serve.

Disclaimer: The SBX technology is in development and not commercially available. The content of this page reflects current study results or design goals.