Next-generation Sequencing: Making the Leap from Concept to Clinic

DX Panel

Next-generation sequencing (NGS) now provides many clinicians with a much broader picture of the mutations present in a patient’s tumor. In fact, NGS is among those technologies that has rapidly made the leap from “concept to clinic,” a likely reason it was one of the topics discussed during the 13th Annual Personalized Medicine Conference in Boston last week. 

Among those attending and presenting at the Conference was Joydeep Goswami, president, clinical next-generation sequencing, oncology, Thermo Fisher Scientific. He participated in a panel entitled “Models for the Development of Personalized Medicine Diagnostics,” which featured representatives from the pharmaceutical and diagnostics industries discussing the role of partnerships in overcoming the obstacles that have traditionally slowed the development of new diagnostic tools.

For his part, Goswami addressed how NGS has rapidly evolved to support patient treatment at the point of care. He pointed to the fact that NGS now enables us to look for multiple biomarkers at once, giving clinicians much more clinically actionable diagnostic information in a concise report. Moreover, NGS allows clinicians to not just understand the tumor itself, but also the immune system’s response to it. Goswami also pointed to emerging approaches to cell-free DNA (cfDNA) analysis using “liquid biopsy,” which allows for ongoing monitoring of patients’ responses to therapeutics. This will transform how clinicians develop and manage treatment plans for their patients. 

Regarding the broader use of biomarkers in the development of treatment plans, fellow panelist Jacob Van Naarden, chief business office at Loxo Oncology, pointed out that increasing prevalence of therapies based on biomarkers is starting to make NGS-based approaches more indispensable. NGS-based approaches can save valuable time, by no longer requiring multiple tests to screen for different sets of mutations; eliminate the need for multiple invasive biopsies; and help improve a patient’s quality of life significantly, perhaps even extending it, by identifying appropriate treatments earlier.

The panelists also addressed what is still preventing more widespread adoption of NGS-based testing. Goswami identified three areas: awareness, a lab’s technical capabilities and reimbursement. “Greater awareness across healthcare will certainly spark greater demand, and that’s important, but labs must prepare for changes too,” said Goswami. He pointed out that among those changes must be newly automated workflows and increased reliance on analytical instruments that deliver sufficient throughput without sacrificing accuracy, turnaround time and test-to-test consistency. 

“And we can’t discount how important reimbursement is to adoption,” added Goswami, a point echoed by Van Naarden. Van Nardeen stressed how important adequate compensation will be to assay manufacturers and labs, otherwise it’s likely we’ll see limited access to tests. This could create an economic barrier that stifles growth and access to the right care for patients. Van Naarden also pointed to the importance of advanced clinician training and support – explaining results to patients will require new skills and additional doctor-patient time, something that has become a luxury in modern medicine.

Finally, the panelists discussed how partnerships are evolving to support precision medicine. According to Goswami, one obvious but often overlooked partner is the U.S. Food & Drug Administration (FDA). “The FDA invested considerable time and resources to understand NGS, and this should provide assurance to the public that NGS-based IVD tests have been thoroughly vetted,” said Goswami. “FDA rigor also signals to the pharmaceutical industry and clinicians that the technology is robust and clinic-ready, an important consideration as more investment goes into developing new therapies and commercializing them.” Van Nardeen agreed, adding that, ultimately, we want clinicians to be able to use NGS-based tests to consider as many drugs as possible for a patient. He suggested that stronger partnerships between diagnostic companies and pharmaceutical manufacturers will continue to be key to making that possible.