Abstract
The Association for Molecular Pathology (AMP) has published a new report that addresses the challenges in defining the clinical utility (CU) of molecular diagnostics for inherited diseases and cancer. The manuscript titled “The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology” was released online ahead of publication in the September 2016 issue of The Journal of Molecular Diagnostics.
While molecular diagnostics (MDx) are currently employed for a broad range of purposes, including diagnosis, prognosis, risk assessment, prediction of future disease onset, and selection and monitoring of therapies, AMP is concerned that drastic shifts in evidence demands and narrow clinical utility definitions may hinder the use of MDx for some applications. The new standards of clinical utility outlined in the publication are intended to provide a framework for clinicians to employ MDx more broadly for effective patient management.
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The publication outlines the AMP Framework for the Evidence Needed to Demonstrate (FEND) Clinical Utility Task Force, which recommends clinical utility definitions aimed at recognizing and detailing both the full contribution and value molecular diagnostic bring to the clinical setting.
“Patient access to clinically useful and appropriate molecular diagnostic testing based upon realistic evidence levels is paramount and clinical utilities beyond therapeutic selection are valuable to patients, providers, and family members,” said Elaine Lyon, Ph.D., 2014 AMP president and FEND Task Force co-chair. “Ultimately, we need to capture evidence for the clinical utility of molecular pathology procedures outside of a traditional randomized control trial setting, recognizing that any individual test result is an intermediate outcome that relies on proper clinical interpretation and utilization in context for that specific patient to achieve maximum benefit.”
Significantly, AMP takes issue with the Medical Test Methods Guide from Agency for Healthcare Research and Quality (AHRQ), which asserts that “the value of a medical test must always be linked to the context of use, including molecular diagnostics.” From AMP's point of view, the use and value—the clinical utility—of MDx to help inform patient care is not nearly as narrow as the AHRQ contends. Instead it seeks a broader context for the CU of MDx as a vital tool in a medical team's global patient assessment and management, a role of increasing importance as the U.S. health system shifts to value-based, patient-centered care.