Growth of Molecular Diagnostics and Genetic Testing in the USA, 2008-2011

Analysis and Implications

Jeanne De Sa; Brantley Carlson; Nadine Caputo; Deneen Vojta; Lewis Sandy; Simon Stevens


Personalized Medicine. 2013;10(8):785-792. 

In This Article

Abstract and Introduction


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.


Advances in genomics and proteomics have contributed to new diagnostic approaches that may significantly change the practice of medicine. Genetic testing helps identify genetic and chromosomal variations that are associated with disease and/or risk states. More broadly, molecular diagnostics are complex laboratory techniques that identify and analyze genetic sequences, biomarkers, metabolites and other molecules.

The promise of these new diagnostic approaches lies in helping patients and their doctors identify individuals with a predisposition to a particular disease, detect whether that individual has a disease at earlier stages of illness, assess the effectiveness of a particular drug therapy for an individual and describe the precise nature of a disease or disease severity. Development of new tests, greater physician and patient awareness of their applicability, lower-cost tests and availability across broader settings of care, and the pairing of tests with new treatments are all expected to contribute to increasing uptake.

Currently, an estimated 1000–1300 genetic tests are available for approximately 2500 conditions, both rare and common,[101–103] and new tests are regularly emerging, perhaps at a rate of several per month.[1] Some analysts suggest that current genetic tests are used by approximately 2% of the population, but others suggest that more than 60% of the population might benefit from their use.[2] However, a lack of publicly available data on current usage patterns and associated spending trends has hindered quantitative assessments of the impact of genetic testing.

Information on US national trends in genetic testing and molecular diagnostics has typically been limited to broad data from test manufacturers and industry sales figures, rather than from detailed analysis of clinical records or administrative sources such as claims databases.[3] In part, this may be because electronic clinical records tend to cover relatively small patient populations treated at particular provider institutions, making it hard to calculate representative population-based testing rates. Additionally, payers' claims databases, which can typically provide information on population utilization trends and costs in many clinical areas face some unique challenges in doing so for genetic testing and molecular diagnostics due to limitations associated with the current procedural terminology (CPT) code set. Molecular pathology CPT codes do not generally identify the tests ordered (with the exception of certain tests for infectious diseases and some cancer tests) and instead typically represent the technical steps involved in performing a given test.

In this article we therefore offer a new perspective on the growth of these new testing technologies in the USA by applying a new claims analytics algorithm to a large US national multiyear private (employer and individual) Medicare and Medicaid claims database.