None of this is lost on the healthcare industry. Healthcare professionals want tools and techniques to better scrutinize genetic tests, results, and efficacy. Although genetic tests cost from $100 to $7,000 (or more), insurance companies will cover them—if they have hard evidence that proves their clinical validity and utility.
To gain acceptance of increased clinical usage, the industry must change how it develops and uses genetic tests. Firstly, there needs to be increased oversight of genetic testing. It’s important that CLIA develop a genetics specialty that establishes, regulates, and enforces genetic testing procedures, protocols, etc. This would refine and clarify laboratory testing requirements and increase testing consistency across labs. Validation and accuracy standards would be documented, well known, and uniform.
For example, one standard that CLIA should implement is to require laboratories that conduct molecular genetic testing to participate in external proficiency testing programs for every test they perform to ensure the quality of testing. In addition, staff should be required to have specific genetic training and education credentials before being certified to create, conduct, or read tests.
In addition, there needs to be greater FDA oversight of genetic testing kits and reagents than currently exists. Likewise, the FDA must regulate home-brew tests by increasing developer accountability. Developers should be required to provide the FDA with empirical data about a test’s validity, accuracy, and clinical utility.
Tests must meet certain prerequisites before developers can market the tests, including achieving acceptable levels of sensitivity and specificity, which would be test-dependent. Further, direct-to-consumer marketing itself must be regulated.
Fortunately, progress is being made. The Laboratory Test Improvement Act (S. 736), spearheaded by Sens. Edward Kennedy (D-Mass.) and Gordon Smith (R-Ore.), would amend the Food, Drug, and Cosmetic Act to require prescriptions for all laboratory-developed direct-to-consumer genetic tests. It also classifies tests as medical devices, which would put them under FDA regulation.
The Genomics and Personalized Medicine Act (S. 3822), introduced by Sens. Barack Obama (D-Ill.) and Richard Burr (R-NC), would require manufacturers of laboratory-developed genetic tests to submit analytical and clinical validity data to the Secretary of Health and Human Services. The Secretary would make the data publicly available.
Some industry leaders aren’t waiting for legislation. Medical analysts at Hayes are now evaluating genetic tests on points of analytical validity, clinical validity and utility, and ethical, legal, and social implications. Our firm’s goal is provide a clear, objective report of the science behind the tests, clinical evidence supporting them, and use of the tests in clinical practice.
These reports will give the industry the data required to determine whether usage and results benefit patients and whether tests are cost-effective for health plans and hospitals. The CDC’s National Office of Public Health Genomics has made similar assessment efforts. However, the organization has produced only one report since it was created in 2004.
Industry reforms are needed to improve genetic testing and unlock its diagnostic and treatment potential. Increased regulation, unbiased assessment, and evidentiary proof of the clinical validity and utility of these tests are the path to this new era.