GENOMICS
instance, a recent study published in JCO Oncology Practice1
analysed real-world
data from individuals with advanced non- small lung cancer. The findings revealed that patients who initiated treatment prior to receiving their genomic testing results experienced suboptimal outcomes, even when they were later transitioned to appropriate targeted therapies. Regrettably, the traditionally
protracted turnaround times for NGS results have posed a hindrance to the ability to await these critical insights before making treatment decisions. However, with the increasing automation of NGS, the length of these turnaround times can be shortened. This reduction translates to a shorter interval between testing and the delivery of genomic insights, thereby enabling patients to initiate the most suitable treatment regimens in a more expeditious manner. This accelerated approach significantly contributes to the enhancement of patient outcomes.
The in-house integration of NGS technology also wields the potential to impact the well-being of cancer patients. By bringing NGS testing within the confines of hospitals, rather than outsourcing them to specialised testing facilities, clinicians gain access to test results in a timelier manner. This shift in the location of NGS testing and its proximity to the patient represents a vital advancement, fostering the broader adoption of precision therapies in the evolving landscape of cancer treatment.
How does adoption of sequencing for cancer patients in the US compare in the rest of the world? As of 2022, North America emerged as the dominant player in the NGS market and is ahead of any other region in terms of NGS adoptions for clinical testing. This predominance can be largely attributed to heightened investments in research and development activities happening in large academic centres combined with the extensive presence of large laboratory service providers. However, the rates for advanced non–small cell lung cancer (aNSCLC), metastatic colorectal cancer (mCRC), metastatic breast cancer (mBC), and advanced melanoma have
Along with the technological advancements in genomic testing, there is a growing trend toward the integration of in-house NGS testing within healthcare organisations and systems.
increased from less than 1% in 2011 to approximately 40% in 2019.2
It is
undeniable that progress has been made to date, but also that there is still a lot of work that needs to be done to grant more access to NGS testing. A noteworthy challenge in the United States is the complexity of insurance reimbursement and coverage policy. This presents a hurdle in the broader adoption of NGS and introduces substantial racial and ethnic disparities in NGS testing that are, for instance, not perceived in Europe, hence the lower rate of overall adoption.
How important is NGS training for laboratory staff and biomedical scientists?
Not all NGS solutions are created equal, therefore major disparities exist depending on the methods (mostly either hybrid capture or amplicon-based sequencing), the provider used for NGS testing, and end application (eg targeted vs. whole exome sequencing). Overall, on today’s market there are highly automated solutions that greatly reduce the technical training that was once deemed a significant barrier to operating NGS equipment. This has led to minimal hands-on time, thereby reducing the hurdles for adoption. The advantages of this development are manifold, as it not
The increasing uptake of NGS testing in oncology has indeed opened opportunities to match patients with optimal targeted treatments. However, several barriers impede the full potential realisation of these invaluable insights
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only expedites the initiation of matched treatments for patients but also yields cost and time savings for healthcare organisations and systems facilitating the testing.
Overall, fully streamlined NGS operations require far less training for laboratory staff, optimising efficiency. In other words, NGS testing has never been easier to perform, and its technicalities are no longer a significant bottleneck for its adoption.
References 1 Scott JA, Lennerz J, Johnson ML et al.
Compromised Outcomes in Stage IV Non- Small-Cell Lung Cancer With Actionable Mutations Initially Treated Without Tyrosine Kinase Inhibitors: A Retrospective Analysis of Real-World Data. JCO Oncol Pract. 2024 Jan; 20 (1): 145-53. doi:10.1200/ OP.22.00611
2 Sheinson DM, Wong WB, Flores C, Ogale S, Gross CP. Association Between Medicare’s National Coverage Determination and Utilization of Next- Generation Sequencing. JCO Oncol Pract. 2021;17(11):e1774-e1784. doi:10.1200/ OP.20.01023
Dr Luca Quagliata PhD BCMAS COA is Vice President and Global Head of Medical Affairs at Thermo Fisher Scientific. He is trained in medical biotechnology and holds a PhD in vascular medicine. Prior to joining Thermo Fisher, he was Senior Director for the R&D Unit and Leader of the Molecular Diagnostics Division, University Hospital Basel, Switzerland. With the ultimate goal of enabling precision medicine, Dr Quagliata’s team was amongst the first in Europe to introduce NGS into routine diagnostics of solid tumours.
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