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By Kathryn A. Phillips1 , Patricia A. Deverka2 , Gillian W. Hooker3 , and Michael P. Douglas4
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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.
This work was supported by National Human Genome Research Institute (Grant Nos. R01HG007063, to Kathryn Phillips, and U01HG009599, to Pui-Yan Kwok). Phillips is a consultant to Illumina and has consulted with Counsyl. Gillian Hooker is a paid employee of Concert Genetics. Michael Douglas is a consultant to Illumina. The authors gratefully acknowledge the assistance of Steve Beuchaw (of Morgan Stanley), who provided input into conception and analyses, and Laura Poff and Taylor Murphy (of Concert Genetics) in conducting analyses.