10 New Genetic Tests Reach the Market Each Day

Ricki Lewis, PhD

May 08, 2018

Approximately 75,000 genetic tests are currently on the market and on average 10 more are added each day, according to an analysis published May 7 in Health Affairs.

The number of clinical genetic tests has increased rapidly as DNA sequencing costs have plummeted. Such tests have become the standard of care for pregnant women and for many people with cancer. However, little empirical evidence has tracked the availability of types of genetic tests and commercial payer spending. The data that do exist are either dated and/or focus on one specific test, such as breast cancer risk.

To get an "overview of the testing landscape," Kathryn Phillips, PhD, 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. Specifically, they analyzed 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 databases classified tests as prenatal, hereditary cancer, oncology diagnostics and treatment, biochemical, pharmacogenetic, noncancer hematology, human leukocyte antigen typing, neurologic, gastroenterologic, identity and forensics, disease risk, cardiologic, and pediatric and rare diseases.

The investigation focused on multigene products, which range in coverage from mutation panels for specific diseases to multianalyte assays, to noninvasive prenatal tests (NIPTs) and whole-exome and whole-genome sequencing. The whole-genome tests include karyotypes, sequencing, and microarray tests that detect insertions and deletions.

The genetic testing claims database includes 1.7 million payer claims over the testing period. The study covered 257 laboratories.

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 gene. On average, each month sees 2 new exome sequencing tests and 2 new NIPT products.

According to the genetic testing claims database, prenatal tests (NIPTs and carrier screening) accounted for 33% to 43% of spending on genetic tests, and hereditary cancer tests for about 30%.

Despite the onslaught 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%.

Most claims were for multigene tests, either marketed as a panel or grouped as single-gene tests for a shared indication. Meanwhile, spending on standalone single-gene tests decreased. The sharp increase in NIPT isn't surprising, given its improved safety over more invasive prenatal tests, such as amniocentesis and chorionic villus sampling.

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?

Another complication is the fragmented nature of the genetic testing market, which is bifurcating into those that provide high-volume tests, such as NIPT, and those with more specialized products, the researchers suggest.

Regulation is also a concern. "The rapid influx of tests and the fact that many genetic tests are lab-developed tests that do not require FDA [US Food and Drug Administration] approval create regulatory and coverage policy challenges," the researchers write. They note that it is concerning that some tests are regulated and some not, which might affect access.

The researchers call for "better evidence on the number, types, and quality of tests," citing several examples of existing restrictions on available information: the voluntary nature of the National Institutes of Health's Genetic Testing Registry; restricted populations behind some databases, such as Medicare; dated information; and intellectual property concerns. Electronic health records and medical coding will have to catch up with the outpouring of new genetic tests, they argue.

"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.

Limitations of the study were not including indications for taking tests, in-house genetic tests, and tests not covered by insurance or denied claims, all of which add up to an underestimate of genetic test use.

Phillips is a consultant to Illumina and has consulted with Counsyl. One coauthor is an employee of Concert Genetics, and another is a consultant to Illumina.

Health Aff. 2017;37:710-716. Abstract

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