Publication

“Getting the right diagnosis is a key aspect of health care: It provides an explanation of a patient’s health problem and informs subsequent health care decisions … improving the diagnostic process is not only possible, but also represents a moral, professional, and public health imperative.”

Note: The following concept note was finalized at the end of 2015 based on inputs from the SPOT/Dx Working Group (details below). Tapestry is pleased to share the concept note publicly as a historical document reflecting the initial design of a diagnostic quality assurance pilot that was subsequently launched by a subset of SPOT/Dx stakeholders in March 2016. The final design of the pilot has evolved since this original concept note. Further details on the pilot’s scope, execution, and progress is available here.

The development of new molecular techniques and the identification of new biomarkers are dramatically increasing the scope and value of molecular diagnostics. With this acceleration comes a need for greater system-wide assurance that the correct patients are selected for targeted cancer therapies regardless of the particular lab or diagnostic test employed in their care. This need has become more acute with the interest and expansion of personalized medicine as demonstrated by the President’s Precision Medicine Initiative. In service to this, the U.S. Food and Drug Administration (FDA) has noted the need to consider novel ways to optimize regulations of Next Generation Sequencing (NGS) tests for human genomes with the end goal of developing a “flexible, adaptive regulatory approach that ensures that patients receive accurate and meaningful results, while accommodating innovation in test development.” There is cross-stakeholder agreement that identifying and implementing consensus reference standards and quality assurance measures to address this issue in a sustainable manner would offer significant benefit to the field of molecular pathology and the healthcare system as a whole.

The Sustainable Predictive Oncology Therapeutics and Diagnostics (SPOT/Dx) Working Group recently announced the development of a Quality Assurance Pilot for Companion Diagnostics. The multistakeholder-initiated effort will test a process to improve molecular companion diagnostic quality and consistency. To do this, the SPOT/Dx Working Group has designed an approach focusing on the creation and adoption of platform-agnostic (commutable) consensus performance standards set by the specifications of a companion diagnostic (CDx) and targeted drug in phase 3 of development (pre-market process). The goal is to equip labs with traceable quality standards materials and specifications (including preanalytic and analytic components) in the pre-market phase that will subsequently enable them to demonstrate equivalent levels of molecular diagnostic performance. Labs will be able to demonstrate their ability to accurately discriminate at the clinical decision point for a given product regardless of whether they are using an FDA-approved in vitro companion diagnostic (IVD) or a laboratory-developed test (LDT). Simply put, the intention is to ensure that regardless of the CDx used, that diagnostic would identify the appropriate patient population for the associated targeted therapy.