Researchers find an explosion of economic activity in the genetic testing market over the past decade, with not only thousands of new tests developed but also a sharp increase in spending on genetic tests.
Since the mapping of the human genome 15 years ago, the number of genetic tests has accelerated rapidly, with 75,000 tests on the market and about 10 new tests marketed every day, researchers say.
"Nearly 14,000 tests have come on the market since March 2014," the researchers wrote this month in a study published in Health Affairs.
The researchers focused on data from 2014 to 2017, including a test catalog database and a commercial payer database with 1.7 million claims for genetic tests.
The researchers say the rapid growth in development of genetic tests and spending on genetic tests is the result of multiple forces converging:
- Clinical demand for better tools to predict, diagnose, treat, and monitor disease
- Better knowledge of the molecular basis of disease
- Patient demand
- Industry investment
- A regulatory environment that allows marketing of genetic tests without Food and Drug Administration approval
The rate and scale of growth in the genetic testing market is remarkable, the researchers wrote. "The clinical sequencing market is growing at compound annual growth rate of 28% and is forecasted to be $7.7 billion worldwide by 2020."
The researchers identified several constraints that could slow growth in the genetic testing market:
- While it has fallen markedly over the past decade, the cost of sequencing is still relatively highly at about $1,000 for a whole genome sequencing test
- Some payers are providing coverage for multigene tests, but some are not
- Out-of-pocket costs for patients
- Balancing the clinical utility of genetic tests with introducing them practically in a clinical setting
- Fragmentation in the clinical lab industry
Uncertainty about how the clinical lab industry is evolving appears to be decreasing, the researchers wrote. "There is some evidence that the market is becoming bifurcated, with the less numerous specialized tests performed by labs within organizations, while high-volume centralized labs perform the large-scale tests."
The researchers found not only an increase in genetic test volume but also spending. The highest levels of spending were on prenatal tests, hereditary cancer tests, and a relatively new class of tests that measure multiple genes.
From 2014 to 2016, the researchers found that spending was highest on prenatal tests, ranging from 33% to 43%. Hereditary cancer tests were the second-highest spending category at about 30%. All other categories accounted for much smaller fractions of total spending.
Safety is one of the driving factors for growth of genetic prenatal tests, the researchers wrote. "These tests meet a clinical need by being an alternative to prenatal screening methods that incur a risk of miscarriage (such as amniocentesis)."
The researchers examined 13 categories of genetic tests:
- Biochemical
- Cardiological
- Disease risk
- Noncancer hematology
- Forensics such as identity
- Gastroenterological
- Hereditary
- Human leucocyte antigen typing
- Neurological
- Oncology diagnostics and treatment
- Pharmacogenetic
- Prenatal
- Tests for pediatric and rare diseases
Christopher Cheney is the CMO editor at HealthLeaders.