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. 2018 May;37(5):710-716.
doi: 10.1377/hlthaff.2017.1427.

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Kathryn A Phillips  1 , Patricia A Deverka  2 , Gillian W Hooker  3 , Michael P Douglas  4
Affiliations

Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?

Kathryn A Phillips et al. Health Aff (Millwood). 2018 May.

Abstract

Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome in 2003. However, it is not widely known how many tests there are, how they are used, and how they are paid for. Little evidence from large data sets about their use has emerged. We shed light on the issue of genetic testing by providing an overview of the testing landscape. We examined test availability and spending for the full spectrum of genetic tests, using unique data sources on test availability and commercial payer spending for privately insured populations, focusing particularly on tests measuring multiple genes in the period 2014-17. We found that there were approximately 75,000 genetic tests on the market, with about ten new tests entering the market daily. Prenatal tests accounted for the highest percentage of spending on genetic tests, and spending on hereditary cancer tests accounted for the second-highest. Our results provide insights for those interested in assessing genetic testing markets, test usage, and health policy implications, including current debates over the most appropriate regulatory and payer coverage mechanisms.

Keywords: Genetic Testing; Health Economics; Market.

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Figures

Exhibit 1
Exhibit 1
Cumulative number of new genetic tests on the market, by month, March 2014–August 2017 SOURCE Authors’ analysis of data from the Concert Genetics test catalog database.
Exhibit 2
Exhibit 2
Percentages of spending on genetic testing in six clinical domains, by quarter, 2014–16 SOURCE Authors’ analysis of data from the Concert Genetics genetic testing claims database. NOTES Claims were curated into domains according to Current Procedural Terminology code and billing laboratory. The exhibit shows spending in all domains that accounted for more than 1 percent of spending. Domains are described more fully in the text. HLA is human leucocyte antigen.
Exhibit 3
Exhibit 3
Percentages of spending on types of genetic testing, by quarter, 2014–16 SOURCE Authors’ analysis of data from the Concert Genetics genetic testing claims database. NOTES MAAA is multi-analyte assays with algorithmic analyses. NIPT is noninvasive prenatal test. WGA is whole genome analysis. WES is whole exome sequencing. “Codes” refers to Current Procedural Terminology codes.
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