How Will the "$1,000 Dollar Genome" Meet Reality (and Centers for Medicare & Medicaid Services)?

Abstract

Much has been written recently about the remarkable transformation new DNA sequencing technologies are bringing to medicine, delivering vast amounts of genetic information speedily and with ever-decreasing cost. Glib references to ‘‘the $1,000 dollar genome’’ have emphasized the point that ‘‘soon’’ complete genomic analysis will be possible for less than the charge for a computed tomography scan of the chest, abdomen, and pelvis (current procedural terminology code 74178). Recent estimates indicate more than 68 million computed tomography scans are done in the United States each year. Cost estimates for genome analysis virtually never take into account the realities of the development and reimbursement strategies for novel clinical laboratory assays. Genomic-based clinical laboratory tests are increasingly common, and the processes that typically determine appropriate reimbursement for these tests are being challenged by their unique nature. In 2013, several expert working groups were commissioned by the American Medical Association Current Procedural Terminology (AMA CPT) Editorial Panel to develop CPT codes that describe genomic sequencing procedure (GSP) services, which will be provided by laboratory tests using genomic sequencing technologies. These codes were debated and accepted by the panel earlier this year and, although not perfect, represent an earnest attempt by knowledgeable stakeholders, including payers, to create useful and meaningful codes. On Monday, July 14, 2014, the Centers for Medicare & Medicaid Services (CMS) held the Annual Clinical Laboratory Fee Schedule Public Meeting in Baltimore, Maryland. During the first half of this meeting, several groups presented public commentary regarding the most ‘‘appropriate’’ pricing methodology (eg, gapfilling versus crosswalk; see Table) for new CPT codes. Discussion surrounded those codes accepted by the AMA CPT Editorial Panel for genomic sequencing-based assays (eg, 814XX, targeted genomic sequencing; see Figure), which are to be implemented by CMS on January 1, 2015. At this meeting, Roswell Park Cancer Institute) and multiple other groups (eg, Sequenom Laboratories, the American Society for Clinical Pathology, the American Clinical Laboratory Association, the Coalition for 21st Century Medicine, Foundation Medicine, and the American Society for Clinical Laboratory Science) recommended gapfill. Organizations including the Association for Molecular Pathology and the College of American Pathologists recommended crosswalk, in large part, motivated by the less-than-optimal implementation by CMS of the gapfill process for pricing the tier 1 and tier 2 molecular pathology procedure CPT codes in 2013. There remain many tests used clinically with accurate codes, which have not been priced by CMS or its contactors. Hence, various personalized medicine innovations are not available to many people. Although it is unknown whether crosswalking or gapfilling methodology will be adopted by CMS to determine reimbursement for next-generation sequencing–based tests, the outcome of this could be critically important to patient care for many years. Regardless of which methodology is used, individual groups concerned with cancer care, such as Roswell Park Cancer Institute, sense the urgency for this void to be filled. Remarkably, this debate is occurring in the shadow of the recent US House bill HR 4302 Protecting Access to Medicare Act of 2014 (PAMA; 113th Leg, Pub L No. 113-93), where there is language requiring the Secretary of Health, not later than July 1, 2015, to establish a permanent clinical laboratory advisory panel to assist CMS on coverage and payment matters related to clinical diagnostic laboratory tests. This panel, to be composed of individuals with expertise in clinicaland research-based molecular pathology and with appropriate expertise in laboratory science and health economics, will assist the Secretary of Health and CMS in the establishment of payment rates for new clinical