Jason Myers, PhD, is the CEO of Genapsys and has more than 20 years of experience in the genomics industry. Prior to Genapsys, he was cofounder and CEO of ArcherDX, continuing his track record of successful technology development and enterprise value creation. Before that, Jason led platform and sequencing application development for Ion Torrent™, where his leadership contributed to its acquisition by Life Technologies.
Next-generation sequencing (NGS) has revolutionized many fields, delivering high-throughput, massively parallel sequencing globally. This is particularly true in the biomedical field where researchers are heavily investing in building databases that can provide population-level genomic insights that have the potential to transform health care.
Despite these advances, NGS remains ill-suited to many point-of-care (POC) diagnostic applications. For a variety of reasons, it works well in a specialized lab but hasn’t been able to transition directly into patient care settings.
Barriers to access
Like many sophisticated laboratory tools, the equipment required to do NGS is typically rigid, complex, and prohibitively expensive, often requiring a hefty upfront capital investment. In addition, the cost of each NGS “run” is considerable, leading many laboratories to pool multiple patient samples for more efficient sequencing runs, but the result is longer turnaround times and potential delays with treatment decisions. While it's a feasible purchase for well-funded labs, for nearly everyone else, NGS is simply out of reach.
Considering the complexities across the entire NGS ecosystem, the current paradigm limits broad access to on-demand, real-time test turnaround, negating NGS as a suitable approach for the point-of-care testing (POCT) and the opportunity to provide patients with genomic data-driven health insights. With simpler and more cost-effective NGS equipment, clinics could own their sequencing and process more patient samples, thereby increasing access to NGS testing.
Another barrier is the interpretation of NGS results. It’s not uncommon for labs to need outside experts to interpret genomic data that provides actionable clinical insights. This can delay turnaround times and limit access to NGS even for well-equipped sites.
Broad clinical adoption of NGS-based testing will require an ecosystem approach, greater automation, and diagnostic-grade methods. The use of rapid clinical decisions based on binary “present/not present” results has the potential to change health care, supporting the simple interpretation at POCT sites by in-house lab technicians.
The next generation
Though the adoption of NGS is invaluable in screening for hereditary disorders and detecting oncologic tumor mutations, it has yet to evolve in a manner that supports routine POCT. Companies are investing in the development of instruments that move beyond the “typical” idea of a sequencer, from a rigid, complex, and costly device to one that is simpler—or even portable—and economically feasible. Those pioneering the use of semiconductor chips are in a position to develop smaller devices, ideal for use in a POC setting while providing the ability to run cost-effective individual samples and deliver rapid results.
Increased access to NGS-based genomic testing serves the entire biomedical field and will empower researchers and clinicians, arming them with deeper health insights to better guide patient care. Applications will continue to evolve, including pharmacogenomics, noninvasive prenatal testing, liquid biopsy oncology testing, and viral surveillance of current and emerging pandemics. Countless applications are possible when NGS-based testing fully moves from bench to bedside, enabling a revolutionary, and much needed, paradigm shift in health care.