Trends in Availability of Genetic Tests in the United States, 2012–2022

Abstract

Globally, genetic testing has become increasingly used over the last two decades. As a result of the rapid development of genetic tests, the Genetic Testing Registry was created in the United States to provide transparent information on genetic tests and the corresponding laboratories. Using publicly available data from the Genetic Testing Registry, we analyzed trends in the availability of genetic tests in the United States over the last decade. As of November 2022, a total of 129,624 and 197,779 genetic tests in the US and globally, respectively, including updated versions of previously existing tests, have been made available and submitted to the genetic testing registry. Over 90% of tests submitted to GTR are for clinical rather than research purposes. Worldwide, 1081 and 6214 new genetic tests had been made available in 2012 and in 2022, respectively. In 2012, only 607 and in 2022, 3097 new genetic tests were made available in the US, with 2016 seeing the biggest increase in availability of new tests during the study period. Over 90% of tests can be used for diagnosis. In the US, 10 of >250 laboratories account for 81% of new genetic tests in GTR. As more genetic tests become available, further international collaboration is required for a comprehensive understanding of the available genetic tests worldwide.