New data describes the economic impact of genomic sequencing procedures. [NIH]

In a new study from the Association for Molecular Pathology (AMP), a global, non-profit organization serving molecular diagnostic professionals, researchers described the results from a 2015 analysis of the costs and health economic impact of several Current Procedural Terminology (CPT) genomic sequencing procedures (GSPs).

The findings from this study were published recently in the Journal of Molecular Diagnostics through an article entitled “Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis.”

Researchers at AMP, with assistance from Boston Healthcare Associates, gathered more than a dozen protocols to analyze cost information about laboratory validation, pre-analytics, sequencing, bioinformatics, and interpretation. A primary objective of the project was to provide laboratories with tools to accurately estimate the cost of performing GSP services—for which the CPT codes went into effect on January 1, 2015.

To help establish favorable reimbursement for these GSP services, the release of these tools deliberately coincided with the Centers for Medicare and Medicaid Services' (CMS) timeline. Laboratories can use them to effectively communicate the cost and value of various GSP services to their Medicare Administrative Contractors (MACs).

The new study report includes aggregated cost and personnel time data from nine laboratories performing 13 GSPs. Additionally, payer cost-impact models for three clinical scenarios were generated with assistance from key opinion leaders: impact of using a targeted gene panel in optimizing care for patients with advanced non-small-cell lung cancer, use of a targeted multi-gene panel in the diagnosis and management of patients with sensorineural hearing loss, and exome sequencing in the diagnosis and management of children with neurodevelopmental disorders of unknown genetic etiology.

“Each model demonstrated value by either reducing health care costs or identifying appropriate care pathways,” the authors wrote “The templates generated will aid laboratories in assessing their individual costs, considering the value structure in their own patient populations, and contributing their data to the ongoing dialogue regarding the impact of GSPs.”

“Genomic sequencing procedures are changing the way clinicians are diagnosing and managing hereditary diseases and the delivery of oncology care,” stated lead study author Linda Sabatini, Ph.D., director of molecular diagnostics at North Shore University Health System. “We hope that laboratories will use these tools to assess their individual costs, to consider the value structure in their own patient populations, and to contribute their data to the ongoing dialogue regarding the impact of GSPs on improving patient care.”

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