The rapid rise in the number of commercially available genetic tests, along with the growth of a genomic approach to healthcare, can make you feel as though you are standing at the entrance to a complicated maze. Not only are there currently more than 65,000 tests available, but many of these tests have their twists and turns in the form of classifications and subdivisions, with little to no quality research to prove their reliability, safety, and efficacy. This raises doubts not only about the ethics of performing some of these tests, but about which tests to cover.
No longer do genetic tests look only at chromosome abnormalities, single genes, or targeted variants. The increased speed and lower costs of next-generation sequencing (NGS) for genetic testing allows for a rapid expansion of gene panels to include virtually any variant of interest. Today’s gene panels vary from just 2 genes, to larger panels examining 50 genes or more, and may also include informative information about RNA. In addition, 2013 saw the U.S. Supreme Court decision to invalidate human gene patents. This, in part, contributed to the swift increase in the number of laboratories developing and offering multigene panel tests.
“While the Centers for Medicare & Medicaid Services (CMS) regulates clinical labs in which LDTs are performed, they do NOT evaluate whether or not the tests are accurate, reliable, and clinically significant.”
The U.S. Food and Drug Administration (FDA) has only regulated tests that are sold as kits and practiced enforcement discretion for laboratory developed tests (LDTs). This means that those LDTs did NOT go through the FDA’s medical device regulatory process before entering the market. While the Centers for Medicare & Medicaid Services (CMS) regulates clinical labs in which LDTs are performed, they do NOT evaluate whether or not the tests are accurate, reliable, and clinically significant.
What does that mean for payers trying to make their coverage policy determinations surrounding genetic tests or for clinicians deciding on which tests to order?
There are 5 questions that must be considered:
- Is this test appropriate for this patient?
- Does the peer-reviewed, published evidence demonstrate analytical validity, clinical validity, and clinical utility?
- Who should order/has the tests?
- Has the genetic test been cleared or approved by the FDA or will it be performed in a Clinical Laboratory Improvement Amendments (CLIA)–certified laboratory?
- What are the limitations of the test?
We provide clarification about these questions and more in our FREE eBook, 5 Questions to Ask Before Entering the Maze of Genetic Testing. Download it today!