Next-generation sequencing (NGS) has rapidly emerged as a cornerstone for precision medicine, particularly within oncology. Recent research from Seoul National University Bundang Hospital (SNUBH) demonstrates the growing clinical application of NGS testing for patients with advanced solid tumors. This study provides valuable insights, showcasing how genomic information is not only aiding diagnosis but also guiding treatment decisions.
The study, which reviewed NGS testing conducted from June 2019 to June 2020, included data from 990 patients, with results focusing on the ability of NGS testing to identify actionable genetic variants. Researchers found significant genetic alterations: 257 patients (26%) harbored tier I variants, which denote strong clinical significance, and 859 patients (86.8%) carried tier II variants, indicating potential clinical relevance.
Among the tier I variants, the frequently identified mutations included KRAS, EGFR, and BRAF, with respective prevalence rates of 10.7%, 2.7%, and 1.7%. Notably, the study revealed the 37.5% response rate among patients who received NGS-based therapy, highlighting the impact of precision medicine on cancer treatment.
Despite the promise demonstrated by NGS, the uptake of genomically-matched therapies remains low. Only 3.7% of patients who received NGS testing were found to be eligible for targeted therapy based on their unique genetic profiles. This low figure raises several questions: What barriers remain for implementing such promising treatments widely?
This concern is compounded by the challenges associated with the interpretation of NGS results and the necessity for collaborative discussions among bioinformaticians, pathologists, and clinical oncologists. The study contributes to the larger conversation on the integration of NGS tests within routine clinical practice, shedding light on both the successes and limitations faced by the healthcare system.
With the growing recognition of NGS's potential, efforts must be made to standardize reporting and to overcome access and regulatory hurdles. The current study emphasizes the pressing need for clinical trials and framework adjustments to facilitate routine use of NGS and maximize the benefits of molecularly targeted therapies.
Moving forward, educators and practitioners must work together to enact changes needed for integrating NGS-based approaches, ensuring they're effectively utilized to define cancer treatment strategies for patients.