Regulation of Laboratories’ Molecular Diagnostic Tests

Personalized medicine is hailed as the future of health care; driven by an understanding of the individual patient’s biochemistry and other factors which are used to design and monitor an optimal treatment regimen.  The underpinning for understanding individual biochemistry is use of molecular diagnostic tests which ascertain a patient’s genetic information, and potentially that of specific tissues, such as tumors, or of infectious agents, and link that information to clinically-relevant recommendations.  There has been concern about the quality and utility of these tests and the Agency for Healthcare Research and Quality has recently issued a report on that subject.   (AHRQ Report)

CMS actually requested this report and asked that it focus on laboratory developed tests (also known as “home brews”) because they are very lightly regulated by the FDA and CMS was uncertain about the propriety of covering the tests.  Many of these tests have recently also been the focus of publicity in regard to direct-to-consumer sales.  AHRQ looked at the literature and reviewed company websites to examine the issues.  Because CMS requested the report, AHRQ looked largely at tests relevant to the Medicare population.  The report is a fantastic primer on molecular diagnostic tests and gives a lot of company and test specific information.

The primary focus was analytic validity–does the test work as described; clinical validity–does it accurately measure what it is supposed to measure; and clinical utility–does it provide information that is useful in regular medical practice.  The report generally found that it is difficult to find this information for most of the laboratory developed tests and it was difficult to assess whether the methods of assuring analytic and clinical validity and clinical utility were appropriate and good.  Overall, it appears more regulation would be useful both to ensure that these tests provide value and to create more transparency for patients, providers and payers.