Approximately 75,000 genetic tests are currently on the market and on average 10 more are added each day. 

According to an analysis published by Health Affairs, the number of clinical genetic tests has increased rapidly as DNA sequencing costs have plummeted. The tests have now become the standard of care for pregnant women and for many people with cancer. However, small empirical evidence has tracked the availability of types of genetic tests and commercial payer spending. The data that does exist is either dated and/or focus on one specific test, such as breast cancer risk.

In order to get an “overview of the testing landscape,” Kathryn Phillips, a professor of health economics and health services research in the Department of Clinical Pharmacy at the University of California San Francisco, and colleagues studied data from Concert Genetics, a health information technology company. In particular, they analysed the test catalog database, which includes data from public websites, and the genetic testing claims database, looking for genetic tests covered by private insurance between 2014 and 2017. 

The investigation found approximately 75,000 genetic tests on the market, with 10,000 unique test types among them. Fourteen percent of the tests were multigene panels. These included 9311 multianalyte assays, 85 NIPTs, 122 whole-exome sequencing tests, and 873 whole-genome sequencing tests. 

Since March 2014, nearly 14,000 tests have been added, which works out to an average rate of about 10 per day, 2 or 3 of which assess more than one genre. On average, each month sees 2 new exome sequencing tests and 2 new NIPT products. According to the genetic testing claims database, prenatal tests accounted for 33% to 43% of spending on genetic tests, and hereditary cancer tests for about 30%. 

Despite an increase of TV ads for new mutation-targeted cancer drugs and media coverage of matching patient to drug under the precision-medicine umbrella, spending on oncology diagnostics and treatment accounted for just 10% of spending, and pharmacogenetic testing accounted for less than 5%. In addition, the researchers conclude that commercial insurance coverage for genetic test panels is “variable and limited,” raising concerns that many patients may be paying or asked to pay out-of-pocket. Part of the problem may be that of “too much information.” Is an exome sequence necessary if a neurologic gene panel would cover a patient’s symptoms?

That being said, regulation continues to be a concern. “The rapid influx of tests and the fact that many genetic tests are lab-developed tests that do not require FDA (U.S. Food and Drug Administration) approval create regulatory and coverage policy challenges,” explained the researchers. They continued to explain that the most concerning aspect is that some tests are regulated and some are not, which may have an effect on access. 

There was a call for “better evidence on the number, types, and quality of tests,” citing several examples of existing restrictions on available information. “Our results fill a critical gap in the existing literature and can serve as a baseline assessment for investigators and policy makers who are interested in examining the growth of the industry over time,” the researchers conclude.