The excitement behind precision medicine in oncology is impossible to ignore. Genomic profiling has enabled the greatest growth in precision medicine in oncology, and today there are 80-plus FDA-approved treatment options indicated for specific genetic markers. Innovations in next-generation sequencing (NGS) technology have further enabled advances in genomic profiling by increasing the speed, accuracy and affordability of sequencing. With this innovation comes a variety of options for testing:
- Internal and external platforms: Some examples within the IVD kit space, such as Thermo Fisher Scientific and Illumina, steered the growth in NGS by enabling the local pathology labs and academic hospitals to conduct NGS testing in-house, while external labs such as Foundation Medicine, NeoGenomics and Guardant have accelerated the growth through the promise of quality, convenience and speed.
- Focused and broad gene panels: Today, providers have access to various genomic profiling options ranging from single biomarker tests, to hot spot panels (two to 50 genes) such as Oncomine Dx, to comprehensive genomic profiling panels (200-plus genes), such as FoundationOne.
- Tissue and liquid sample options: Liquid biopsy options such as Guardant and bone-marrow-based options such as Adaptive Biotechnologies and FoundationOne Liquid expand the possibilities of testing for sequencing without relying on tissue sample.
Despite the innovation and growth in available options, there are still some clinical struggles with NGS adoption across all tumor types, primarily due to a lack of actionable markers, cost and reimbursement, and turnaround time. Regardless of whether profiling is provided in-house or externally, next-generation sequencing results can take anywhere from one to six weeks to turn around, from sample extraction to report delivery. These barriers must be addressed before next-generation sequencing becomes mainstream across all tumor types. Therefore, it’s no surprise that people were intrigued when Thermo Fisher announced its NGS platform, the Ion Torrent Genexus system, which can deliver results in a single day at a reduced cost, addressing some of the key barriers to widespread adoption of NGS.
The new Ion Torrent Genexus system from Thermo Fisher is touted as the first turnkey next-generation sequencing solution that automates and reduces the touch points required to generate a report, and with a single day turnaround time. The new test promises to reduce the manpower element while decreasing the incidence of quantity-not-sufficient-induced test failures with 95% accuracy and requiring a minimum sample of just 10 ng of nucleic acid input. Even with its promise of delivering robust results with fewer failures and a single day turnaround, details on how exactly Thermo Fisher plans to achieve these efficiencies in workflow are still forthcoming. Open questions include:
- Does the single day turnaround take into account tissue collection from patients and sample preparation time, or does the timer start once the tissue is in the hand of the lab technician running the sequencer?
- The rise of immunotherapies has made tumor mutational burden (TMB) an important marker in cancer treatment; however, the test may not cover TMB and BRCA. Can the platform be updated over time with other relevant biomarkers and still deliver the promise of a single day turnaround?
- With rising interest in creating genomic profile libraries, will this platform have limited utility among academic and research institutions?
- Will such an offering reduce the cost of NGS testing even further or increase it because of its ability to address a high unmet need?
These are all questions that will need answering before providers and hospitals embrace what promises to be the next evolution in NGS testing for patients. Despite these open questions, the new test will likely disrupt the marketplace and offer an exciting option for patients:
1. Increase in internalization, especially among community hospitals: At the Association for Molecular Pathology annual meeting, Thermo Fisher vice president of product management Andy Felton said that the goal of Genexus is to enable even small local hospitals to adopt NGS testing in-house and reach providers that have not previously owned a sequencer. The hands-off automation, easy operation and flexibility to support sample intake variability will likely encourage more providers to consider internalizing NGS testing. Even the labs with existing NGS infrastructure are likely to add this to complement their existing comprehensive profiling platforms for faster clinical decision-making.
2. Acceleration of NGS adoption: While tumor types such as lung cancer have reached the tipping point for NGS adoption due to several actionable mutations, the value of NGS is still unclear in other tumor types with fewer actionable mutations. This new test will likely lower the tipping point to use NGS in other tumors due to its promise of speed and simplicity, resulting in accelerated adoption of NGS across tumor types. With more patients educated about precision medicine and the buzz around the single day turnaround, they’re more likely to proactively request the single day turnaround test and prompt the providers to increase its utilization.
3. Pressure on competitors to match: NGS players such as Foundation Medicine, Guardant, Illumina, Caris, NeoGenomics, PGDx and others are already working toward reducing their turnaround time; however, they now have a benchmark against which their efforts will be assessed. The pressure is on them to limit Thermo Fisher’s competitive advantage on turnaround time and seek other aspects of differentiation in areas of unmet need.
4. Increased importance of wraparound services: There’s no doubt that diagnostic labs will continue to improve their technologies through reduction in turnaround time, increase in depth-of-gene coverage, improvements in sample requirements and more. As the market becomes more crowded and the level of unmet needs is further reduced, labs must consider how to differentiate through other services to bring value to patients and providers, such as genetic counselors and patient navigators.
This announcement is just another example of the speed of innovation that is occurring in the precision medicine space. Regardless of who you are, everyone should applaud that a major unmet need in genetic profiling is being addressed and more patients will benefit from greater and more timely access to valuable information.