Growth of molecular diagnostics and genetic testing in the USA, 2008-2011: analysis and implications

Aims: Advances in genomics and molecular diagnostic testing are expanding, but national data on which to base clinical, regulatory and reimbursement policies in the USA are lacking. The study objective is to provide current estimates of utilization/spending trends for private and public payers. Patients & methods: Healthcare utilization/expenditure claims data for 32 million individuals across the USA in 2008-2011 were analyzed. Genetic testing and molecular diagnostic usage was categorized by major testing groups: infectious disease, cancer and inherited/other acquired conditions. Results: Per-person testing cost grew by 14% per year between 2008 and 2011, primarily resulting from increased utilization. Spending per person for Medicare and Medicaid was higher than for commercially insured patients. Expenditure across the USA was estimated at US$5.5 billion in 2011, up 13% from 2010. Discussion: Greater understanding of usage and technology diffusion requires increased data transparency and granularity. Conclusion & future perspective: The use of genetic testing and molecular diagnostics will grow over the next 5 years, with uncertainty about the precise diffusion trajectory. By strengthening the capacity to capture and analyze trends in this changing area of medicine, we increase our chances of promoting positive change to the benefit of patients.