GENOMICS
now assumed a prominent role as the rapidly emerging method for molecular profiling in routine clinical diagnostics. While the demand for medical genetics testing remains robust, the predominant catalyst behind this inexorable trend is in the realm of oncology, given the wealth of actionable gene targets paired with an array of newly available targeted therapies. This confluence has rendered the concurrent assessment of multiple biomarkers a necessity for numerous clinical applications. Previously, the preferred approach was sequential single-gene testing. However, the profusion of actionable gene targets and the availability of numerous targeted therapies made the parallel evaluation of multiple biomarkers a necessity for a number of clinical indications. The advent of NGS, leveraging various technological innovations, especially through the application of targeted gene panel sequencing, enables clinicians and pathologists to assess multiple biomarkers at once within a streamlined, efficient and increasingly automated process. This not only expedites the diagnostic process but also saves precious tissue resources by obviating the need for multiple patient samples, which substantially reduces the risk of requiring re-biopsies. In addition to the technological advancements in genomic testing, it is worth noting a growing trend toward the integration of in-house NGS testing within healthcare organisations and systems. Conducting NGS testing in-house enables hospitals to significantly reduce the turnaround time for delivering test results to patients. This expedited process can have a profound impact on the treatment options available to oncology patients, as NGS results offer a clear path toward the most suitable treatment plan based on the genetic insights derived from the unique tumour profile. It’s essential to recognise that NGS testing extends beyond the realm of cancer, offering benefits to patients grappling with infectious diseases or reproductive health concerns as well.
What are the immediate barriers to further cancer patients benefitting from NGS?
Despite the consistent approval of new targeted therapies, recent reports highlight that only a fraction of eligible patients are benefitting from these advancements. The promise of personalised medicine, albeit significant, is not yet fully realised. 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
Conducting NGS testing in-house enables hospitals to significantly reduce the turnaround time for delivering test results to patients. This expedited process can have a profound impact on the treatment options available to oncology patients.
potential realisation of these invaluable insights.
One critical obstacle revolves around ensuring a clear and viable pathway for the reimbursement of NGS testing. The absence of adequate reimbursement precludes patients from undergoing the necessary testing, thereby rendering these potentially transformative treatments as inaccessible. It is imperative that efforts are concerted to address this coverage gap, ensuring more equitable access to precision medicine.
Insurance coverage, while a substantial
factor, is not the sole impediment to the wider utilisation of NGS testing. Gaps in clinical practices present a significant hurdle, encompassing issues as fundamental as failing to order the appropriate genomic tests, encountering inconclusive testing outcomes, and enduring prolonged turnaround times to obtain results. Consequently, physicians
are compelled to resort to one-size-fits-all treatment approaches for patients who cannot afford further delays. In the current landscape, marked by the emergence of groundbreaking therapies, accessible and rapid molecular testing has become even more pivotal. With highly automated NGS solutions that provide user-friendly genomic testing requiring minimal training and hands-on time, and that greatly limits the barrier of technical education required to run these systems, hospitals have the ability to bring this testing in-house.
What is the next advance that could make a substantial difference to the outcomes of cancer patients? An expanding body of research underscores the pivotal role of NGS technology in determining optimal treatment plans, particularly for patients with advanced-stage cancer. For
The advent of NGS, leveraging various technological innovations, especially through the application of targeted gene panel sequencing, enables clinicians and pathologists to assess multiple biomarkers at once within a streamlined, efficient and increasingly automated process. This not only expedites the diagnostic process but also saves precious tissue resources
WWW.PATHOLOGYINPRACTICE.COM FEBRUARY 2024 37
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