The "Wild West" of Genetic Testing
Most people assume that genetic testing is regulated, but most is not - at least not in the way most consumers and physicians assume it is.
Does FDA regulate genetic tests?
No, FDA does not regulate the vast majority of the genetic tests offered by laboratories in the United States. FDA states it has the authority to regulate genetic testing, which falls in a category called laboratory-developed tests, but has not enforced that authority. FDA initiated steps to regulate and was met with overwhelming opposition from laboratories.
Is there any regulation of genetic testing?
The Center for Medicare and Medicaid Services (CMS) regulates laboratories under the Clinical Laboratory Improvement Amendments (CLIA). The focus of the oversight is on laboratory operations and analytical validity, which is one aspect of quality.2 CLIA-certified labs have undergone inspections of their facilities and procedures.
Health insurance companies review genetic testing before they decide whether they will pay laboratories. These reviews can be quite thorough but they are not completely devoid of conflict. Insurance companies could save money if they delay review of new tests or decide not to cover them.
What is the right way to evaluate a test?
There is no simple way to assess a genetic test. Some labs have built their reputations based on commitment to high-quality clinical genetic testing, so many clinicians, including genetics-trained clinicians, order exclusively from those labs. That doesn’t mean another lab could not offer a comparable test, but a clinician would need to contact the lab and ask a rigorous list of questions and potentially review scientific papers, too.
So what should physicians and consumers do?
In the absence of regulatory oversight, there is a gap to be filled. It is not reasonable to expect physicians to fill a regulatory gap. That said, this blog intends to provide bite-sized insight into genetic testing and related genetic issues for those who wish to decipher the complexity.
1. U.S. Food & Drug Administration. (2018). Laboratory Developed Tests [definition and description]. Retrieved from https://www.fda.gov/medical-devices/vitro-diagnostics/laboratory-developed-tests
2. Centers for Medicare & Medicaid Services. (2019). Clinical Laboratory Improvement Amendments (CLIA): LDT and CLIA FAQs [frequently asked questions]. Retrieved from https://www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/Downloads/LDT-and-CLIA_FAQs.pdf