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Per Med. 2012 May;9(3):265-286. doi: 10.2217/pme.12.23.

The business value and cost-effectiveness of genomic medicine.

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Hofstra North Shore-LIJ School of Medicine, 10 Nevada Drive, Lake Success, NY 11042-1114, USA.
Ventana Medical Systems, Roche Tissue Diagnostics, 1910 E Innovation Drive, Tucson, AZ 85755, USA.


Genomic medicine offers the promise of more effective diagnosis and treatment of human diseases. Genome sequencing early in the course of disease may enable more timely and informed intervention, with reduced healthcare costs and improved long-term outcomes. However, genomic medicine strains current models for demonstrating value, challenging efforts to achieve fair payment for services delivered, both for laboratory diagnostics and for use of molecular information in clinical management. Current models of healthcare reform stipulate that care must be delivered at equal or lower cost, with better patient and population outcomes. To achieve demonstrated value, genomic medicine must overcome many uncertainties: the clinical relevance of genomic variation; potential variation in technical performance and/or computational analysis; management of massive information sets; and must have available clinical interventions that can be informed by genomic analysis, so as to attain more favorable cost management of healthcare delivery and demonstrate improvements in cost-effectiveness.


CPT codes; ICD-9 codes; diagnostics; laboratory-developed tests; payment; personalized medicine; pharmacogenomics; relative value units; stacked codes; whole-genome sequencing

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