Steve Halasey, CLP.
When it comes to the practice of medicine, there is no surer sign of the acceptance of advanced technologies and procedures than the publication of guidelines for implementing those innovations in routine patient care. That principle also holds true in the practice of laboratory medicine, where the issuance of guidelines is often a door-opener for the adoption of new platforms and testing strategies by clinical laboratories, as well as a signal to payors about the acceptability of those novel approaches. Peer-reviewed publications typically support and follow the issuance of such guidelines.
Consequently, it was with some pleasure that I read at the end of March about a new guideline jointly compiled by the Association for Molecular Pathology (AMP) and the College of American Pathologists (CAP), on the topic of next-generation sequencing assays for clinical applications.1 The publication begins with the premise that “next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories”—more about that later—and takes readers stepwise through a series of “consensus recommendations to help clinical laboratory professionals achieve high-quality sequencing results and deliver better care for cancer patients.”
According to AMP, the association is in the process of providing a series of guidelines designed to improve the entire NGS workflow. The joint consensus recommendations are based on evidence from a review of published literature, empirical data, current laboratory practice surveys, feedback from multiple public meetings, and expert professional experiences.
“In this era of precision medicine, NGS has quickly become the method of choice for detecting multiple somatic variants, diagnosing disease, and predicting response to targeted therapies. However, the required analytical validation process remains challenging,” said Lawrence Jennings, MD, PhD, attending pathologist at Lurie Children’s Hospital of Chicago, working group chair, and AMP member. “AMP convened and led a multidisciplinary subject matter expert working group with liaison representation from CAP to summarize current knowledge, expose challenges, and provide guidance on how to best validate these tests to ultimately improve patient care.”
The latest guidance does not disappoint, addressing NGS test development, optimization and familiarization, and best practices for establishing test performance characteristics. The recommendations emphasize the critical role of the molecular laboratory director in establishing and utilizing an error-based approach for patient risk management.
Since these recommendations represent current best practice in a rapidly developing field, AMP anticipates a need for ongoing updates. The new report follows the previously published guidelines on interpreting oncology sequence variants. AMP plans on publishing the next companion paper in this series, focusing on downstream NGS bioinformatics analysis, later this year.
The working group may have jumped the gun a bit in its claims about how rapidly NGS assays are being adopted in everyday clinical settings. A survey recently conducted by CLP, in partnership with the market research firm of Frost & Sullivan, finds that penetration of NGS systems has been rapid in research settings and tertiary medical centers, but much slower among community healthcare organizations. A feature about the CLP/Frost & Sullivan report will appear in the May issue. So stay tuned!
Steve Halasey
Chief Editor, CLP
[email protected]
(626) 219-0199
Reference
- Jennings LJ, Arcila ME, Corless C, et al. Special article: guidelines for validation of next-generation sequencing–based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists. J Mol Diagn. 2017;19(3):1–25; doi: 10.1016/j.jmoldx.2017.01.011.
