By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Senior Director, Genetic Test Evaluation Program and Technical Editing
In an October 30, 2013, letter to Marilyn Tavenner at the Centers for Medicare & Medicaid Services (CMS), representatives of the American College of Medical Genetics and Genomics (ACMG), American Society for Clinical Laboratory Science (ASCLS), American Society for Clinical Pathology (ASCP), American Society for Histocompatibility and Immunogenetics (ASHI), Association for Molecular Pathology (AMP), and College of American Pathologists (CAP) outlined a number of concerns regarding the Palmetto Molecular Diagnostics (MolDX) Services Program and Medicare coverage of molecular pathology procedures. Among other concerns, these professional societies expressed dismay over the apparent lack of transparency of the technology assessment process that is part of the MolDX program. The full text of the letter to Ms. Tavenner can be found here.
Since 2008, the Hayes Genetic Test Evaluation (GTE) Program has performed evidence-based evaluations of more than 215 genetic and genomic tests, with at least 40 new evaluations performed each year. Hayes has developed a proprietary methodology that evaluates the strength and direction of the evidence for the elements of analytical validity, clinical validity, and clinical utility for any given use of a genetic or genomic test. Given Hayes’ expertise in this area, we offer the following responses to the concerns raised in the letter of October 30, 2013, which we outlined in a letter to Ms. Tavenner on November 22, 2013:
- Genetic and genomic tests are complex and there is no “one-size-fits-all” evidentiary requirement that can be applied to all tests. Each test must be evaluated on its individual strengths, weaknesses, and limitations in order to fairly assess the real or potential impact on patient care and outcomes.
- Similarly, many genetic and genomic tests have multiple potential clinical applications (e.g., diagnostic, carrier, presymptomatic, predisposition, prognostic, and pharmacogenetic testing). It is critical to evaluate the evidence behind each potential application in order to understand its contribution to patient care and outcomes.
- The use of specific codes is critical to understanding the exact test and application for a given patient. The Tier 1 molecular pathology current procedural terminology (CPT) codes provide specific information regarding: (1) the gene(s) being tested; (2) the genetic variants evaluated; and (3) the patient population. While the limited number of Tier 1 CPT codes necessitates the use of nonspecific codes (such as 81479 and 84999) in many instances, Tier 1 CPT codes should be used where these exist.
- Finally, independent and unbiased evidence-based evaluations, such as those performed by the Hayes GTE Program, are critical to ensuring the appropriate use of genetic and genomic tests. Key components of such evaluations include:
- Detailed and reproducible literature search strategies with clear inclusion and exclusion criteria for studies.
- Critical analysis and appraisal of the best available studies, utilizing well-validated methodology.
- Synthesis of the body of evidence for analytical validity, clinical validity, and clinical utility for each evaluated application of the test.
- An overall rating conclusion about the clinical utility of the test for each application, based on the best available evidence.
Clearly, this story is still unfolding and at Hayes, we look forward to a resolution that is acceptable to all stakeholders but that puts the best interest of the patient first.
For more information on Hayes and our GTE program, visit www.hayesinc.com. Or, contact Hayes, Inc. by telephone at 215.855.0615 or by e-mail at firstname.lastname@example.org.