Linnea Baudhuin, Ph.D., Associate Professor of Laboratory Medicine and Pathology and Co-Director of the Personalized Genomics Laboratory, the Clinical Genomics Sequencing Laboratory, and the Cardiovascular Laboratory at Mayo Clinic in Rochester, Minnesota, recently authored an article in The Pathologist on the cost of next-generation sequencing (NGS).
According to the article, as laboratories get into the NGS game, they quickly realize that the technology is expensive, there are multiple new complexities encountered, and there may be issues surrounding reimbursement and regulations. Before setting up an NGS testing program, laboratories should consider which types of tests would provide value to their internal and external clients and balance this with an awareness of the resource-heavy nature of NGS.
According to Dr. Baudhuin, it is important to realize that more is not necessarily better in the case of NGS testing. "Labs need to be shrewd about their gene-panel design, evaluating the clinical utility of each gene and including only those genes with a strong evidence base. Why is this important? Because the more genes that are included, the more variants are detected (including variants of uncertain significance [VUSs]), and, consequently, more variant interpretation and categorization will need to be carried out," says Dr. Baudhuin. "All of this translates to resources spent by the laboratory, time spent by the clinician trying to understand and explain the results, a higher potential for incorrect interpretation of the report by clinician/patient, and potentially unnecessary follow-up testing on VUSs. So, careful upfront gene-panel design with multiple iterations among genetic counselors, clinicians, and laboratory directors is time well spent."
Dr. Baudhuin's tips for minimizing resource constraints include:
"Careful upfront thought and planning, though, will really help to prevent downstream unnecessary expenses as laboratories embark on their journey of NGS clinical testing," states Dr. Baudhuin.