The Role of Next-Generation Sequencing in Precision Medicine: A Review of Outcomes in Oncology

Abstract

Precision medicine seeks to use genomic data to help provide the right treatment to the right patient at the right time. Next-generation sequencing technology allows for the rapid and accurate sequencing of many genes at once. This technology is becoming more common in oncology, though the clinical benefit of incorporating it into precision medicine strategies remains under significant debate. In this manuscript, we discuss the early findings of the impact of next-generation sequencing on cancer patient outcomes. We investigate why not all patients with genomic variants linked to a specific therapy receive that therapy and describe current barriers. Finally, we explore the current state of health insurance coverage for individual genome sequencing and targeted therapies for cancer. Based on our analysis, we recommend increased transparency around the determination of “actionable mutations” and a heightened focus on investigating the variations in health insurance coverage across patients receiving sequencing-matched therapies.

Variants of uncertain significance in the era of high-throughput genome sequencing: a lesson from breast and ovary cancers

“…In addition to the remarkable benefits brought by the advent of NGS in cancer investigation, this technology has created a paradoxical relative shortage of answers in the face of the massive quantity of information generated by high-throughput technologies [11,12]. The identification of known somatic or germline mutations accelerates diagnosis, development, and use of drugs that specifically target tumor-driving mutations.…”

“…The identification of known somatic or germline mutations accelerates diagnosis, development, and use of drugs that specifically target tumor-driving mutations. Indeed, the use of sequencing data ameliorates patient outcomes by improving the identification of targetable mutations and enlarging the number of patients eligible for specific therapies [11]. However, there are no available drugs for many known mutations or newly discovered variants, yet.…”

“…Furthermore, NGS has accelerated the identification of many diverse diagnostic sub-groups of patients, but studying populations sufficiently large to be statistically significant is still challenging. This makes rare variants difficult to use for clinical purposes, such as the performance of controlled clinical trials [11]. Another possible challenge in NGS use is the time it may take to receive sequencing results, which might be too long to match clinical needs [11].…”

“…This makes rare variants difficult to use for clinical purposes, such as the performance of controlled clinical trials [11]. Another possible challenge in NGS use is the time it may take to receive sequencing results, which might be too long to match clinical needs [11]. Although NGS costs have dramatically decreased in absolute term, this technology is not always financially sustainable in all research and clinical environments [12].…”

Patient‐derived organoids: New co‐clinical model to predict treatment response in cancer?

“…Since then, great efforts have been made to identify specific molecular targets to develop high precision targeted drugs. The advent of new‐generation sequencing (NGS), the “omics,” and the management of big data has been fundamental elements in this task (Morash, Mitchell, Beltran, Elemento, & Pathak, ). However, preclinical models, both in vitro and in vivo, have not been able to reproduce the physio‐pathological processes of patients, generating many expectations that have not been fulfilled.…”