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.

Keywords: health insurance coverage; next generation sequencing; oncology; patient outcomes; precision medicine.

Figure 1

Outline of Precision Medicine in Oncology. Cancer patients have genomic, clinical, and insurance information that is evaluated by the physician, along with patient preferences, to design a potential treatment plan via shared-decision making. The patient’s outcomes are evaluated both to update their individual treatment plan as well as to inform future healthcare policy making. Once enough evidence amasses to show the clear benefit of a certain treatment, changes in healthcare policy affect (1) the clinical guidelines physicians consult in designing care, (2) the types of treatments that health insurance policies cover, and (3) the cost of treatment to the patient.