Comparative Effectiveness Research and Demonstrating Clinical Utility for Molecular Diagnostic Tests

Molecular diagnostic tests continue to expand outside of the esoteric genetic laboratory into primary care, oncology, neurology, and for any provider of prescribed medications. Some of the newer molecular tests represent an advance in technology enabling more refined and comprehensive analysis, such as the evolution from standard G-banded karyotyping to chromosomal microarrays to gene panels based on massively parallel (“next gen”) sequencing. These technical innovations promise to deliver more accurate and complete information at progressively lower costs to laboratories and ultimately the health care system. Yet patients will not have access to these tests without adequate coverage and reimbursement by payers, since most patients cannot afford to pay for the tests out of pocket. Recently, there have been significant changes to the coding for molecular diagnostics in an effort to increase transparency and specificity in billing (1), with the net effect that reimbursed prices for many molecular diagnostic tests have actually decreased. Nevertheless, due to increased utilization of tests by clinicians and continued introduction of new tests, payers remain concerned that in the aggregate, molecular diagnostic tests represent a technology category with considerable potential for cost growth that merits additional scrutiny.For example, in a recent report focused on the topic of personalized medicine, UnitedHealthcare found that their expenditures on molecular diagnostic tests increased 14% annually between 2008 and 2010, a rate significantly higher than that of clinical laboratory services overall (2). Approximately 70% of this increase was due to increased test use; the remainder was due to higher prices and test complexity and intensity. Projections of the rate of growth of the molecular diagnostics market over the next 5–10 years are dependent on assumptions about test adoption rates, pricing trends, and technical innovations, but most analysts predict continued rapid expansion.This same study surveyed a statistically representative sample of …