Next-generation sequencing is transforming healthcare


Share this blog

Advances in next-generation sequencing have powered a genomic revolution. From early beginnings and painstaking processes, methods have advanced significantly, opening endless research avenues. In 2021, it is now possible to sequence a human genome within a single day, and we are fast approaching the much-anticipated $100 genome. As speed and throughput have increased, the applications for these powerful genomic techniques have expanded beyond research into a more diverse range of clinical settings.

The first high-level trend shaping the sector is the increased demand for next-generation sequencing across personalized medicine, genetic testing, and other applications.

The second fundamental factor is the scale of advances in sequencing techniques and associated technologies that have enabled greater adoption and increased the breadth of possibilities for genomic research.

You may find our latest industry report 'Shaping a new era of genomics liquid handling' interesting. The report sets out a vision for the future of genomics liquid handling. It highlights opportunities and considerations and shares snapshots from our qualitative research with NGS customers about their library preparation experiences.

This blog reviews the current landscape for next-generation sequencing and considers what the future may hold.

Research demand

Several key areas are shaping the ongoing boom in global research demand, all underpinned by far greater accessibility in terms of costs and technology. Approaches that were once the preserve of a limited pool of researchers in specific academic centers and regions are now geographically widespread and adopted into a range of clinical and research settings.

Genetic sequencing for infectious disease surveillance

Even as the worst of the SARS-COV-2 pandemic passes, at least in the developed world, genetic sequencing will continue to play an essential role in managing the global SARS-COV-2 disease burden and monitoring transmission and variants. Sequencing is now firmly embedded in worldwide healthcare systems as a critical tool for identifying and surveying infectious diseases.

Genomic profiling for personalized therapeutics

Once an aspirational goal, personalized therapeutics have now become a reality, especially within oncology indications. With these new medicines comes a need for genomic profiling supported by next-generation sequencing.

In a recent presentation, Illumina highlighted 55 approved drugs that require genomic testing to identify whether they are suitable for the specific patient. More similar medicines are on the horizon as biomarker-driven clinical development becomes increasingly mainstream.

Sequencing for other clinical applications 

Next-generation sequencing is used across many clinical applications, and essential tests are now available in most regions for risk assessment, disease screening, and reproductive health. Sequencing also plays a vital role in the diagnosis of rare and suspected genetic conditions, and ‘long-read’ sequencing technologies now provide a more comprehensive view of variation in a genome to improve detection.

A team of scientists from Stanford used a novel sequencing method from PacBio to successfully identify a novel structural variant in a gene associated with Carney syndrome, for a patient who had suffered repeated tumors. This breakthrough came after eight years of genetic analyses that had produced no concrete results. 

As technologies become less costly and easier to access, the increased uptake of genetic testing is set to continue. Innovative developments such as Oxford Nanopore's real-time portable sequencing have the potential to transform point-of-care treatment. For example, Oslo University Hospital used the technology to classify brain tumors in just over 90 minutes- fast enough to inform in-process surgical strategy and drastically improve patient outcomes. See how our own mosquito HV genomics is utilized for library preparation.

Technology advances

Technology advances encompass faster, more cost-effective and more informative sequencing techniques, alongside a step-change in analytical power through artificial intelligence and deep learning approaches.

Check out our blog on 4 ways automation helps deliver better value in genomics research.

Multi-omics growth

One of the most promising developments is the ability to capture multi-omics data, allowing researchers to gain a deeper level of biological knowledge beyond the genome and explore the transcriptome, proteome, and metabolome.

These dynamic datasets yield transformative insights about the drivers of disease to enable breakthroughs in drug discovery. Growth in this field is driving further demand for sequencing technologies and supportive solutions.

AI advances to unlock the power of large datasets

Reduced sequencing costs and new techniques have facilitated more ambitious projects and generated an explosion in available data. For instance, low-pass Whole Genome Sequencing (WGS) involves high-throughput sequencing of the entire human genome at low coverage. It delivers a much more cost-effective approach to measuring genetic variation at high throughput for large genomics projects.

Artificial intelligence and data science are helping to transform this increasingly vast volume of data into an asset that can inform a better understanding of diseases, support more efficient drug discovery, and improve clinical decision-making. For example, Illumina's SpliceAI, a state-of-the-art deep neural network, helps research scientists to identify mutations in patients with autism. At the same time, its TruSight Software Suite uses advanced analytical techniques to translate sequencing data into meaningful results for rare diseases. The availability of these superior computational methods to extract insight efficiently will further drive appetite for sequencing in research, drug discovery and clinical applications. 

Where next?

Against the backdrop of this transformational progress in sequencing techniques, there are still challenges to overcome.

All too often, sample and library preparation methods cause workflow bottlenecks and inhibit researchers from maximizing the value of their research. As lower costs have enabled access to next-generation sequencing techniques for a broader range of research settings, we must also democratize access to transformative automated liquid handling solutions for genomics that can support throughput without compromising accuracy.

Genuinely accessible solutions need to consider efficient use of available space, multi-functionality, simplicity for all researchers, and cost-effectiveness. By making automation a reality for laboratories of all sizes, we can empower the next phase of genomic innovation.

An all-in-one solution 

fireflyOur firefly® liquid handling platform for NGS library prep offers a groundbreaking and innovative example of an automated system that empowers researchers with all-in-one capabilities.

firefly simplifies liquid handling workflows for genomics by combining pipetting, dispensing, incubating, and shaking technologies. The streamlined benchtop platform allows researchers to do more with less valuable laboratory space. 

With powerful and intuitive software that sets a new standard for the industry, plus the option to share custom protocols via a first-in-class, peer-to-peer, cloud-based network, firefly is at the forefront of shaping a new era of genomics research. Find out more about the revolutionary firefly platform here: 

Explore firefly


What are the trends shaping NGS liquid handling?

Our latest industry report Shaping a new era of genomics liquid handling sets out a vision for the future of genomics liquid handling. It highlights opportunities and considerations and shares snapshots from our qualitative research with NGS customers about their library preparation experiences.


Illumina presentation at JP Morgan 39th Annual Healthcare conference - January 2021