Quality of Genetic Testing
Genetic tests are relatively new to the clinical testing structure. As an emerging field, these tests strain the existing system in a new way. As such, policymakers must reexamine the aptness of current regulations. The regulatory system must encourage safe, accurate, and accessible genetic tests. At the same time, regulators must avoid placing too heavy a burden on those who create, manufacture, and provide genetic testing services to the public. In the case of the regulation of genetic tests, policymakers must consider both the positive and negative implications of regulation and strike an appropriate balance.
Perspective. “Transparency, Openness, and Genetic Testing.” Genetic Testing and Molecular Biomarkers August 2009 Access the article.
Genetic Alliance Testifies at FDA Transparency Task Force Meeting on the need for a public registry for all laboratory tests, June 24, 2009. View the testimony.
Perspective. “A Measure of Truth in Genetic Testing.” Genetic Testing and Molecular Biomarkers June 2009. Access the article.
Coalition for 21st Century Medicine and the Genetics and Public Policy Center call for regulation of advanced diagnostics. May 5, 2009. View the press release.
Call for Action from Genetic Alliance. “Registry of Genetic Tests: A Critical Stepping Stone to Improving the Genetic Testing System.” Genetic Testing and Molecular Biomarkers April 2009 Access the article.
Current regulatory environment:
Today, genetic tests are subject to regulation through three statutory mechanisms:
Clinical validity – the ability of a test to detect or predict the associated disorder (phenotype).
Clinical utility – the elements that need to be considered when evaluating the risks and benefits associated with a test’s introduction into routine practice.
Home brew test – a test developed in house by laboratories and marketed as a clinical laboratory service. One can think of a home brew test as a cake made from scratch. In this analogy, all of the ingredients for that “cake” are the laboratory’s own analyte specific reagents.
Analyte specific reagent – the “active ingredients” in a laboratory’s home brew tests.
|Test kit – unlike home brew tests, test kits are analogous to a cake mix; all of the ingredients are already together and one simply needs to follow the directions on the box.|
1) The Clinical Laboratory Improvement Amendments (CLIA) of 1988, administered by the Centers for Medicare and Medicaid Services, require that laboratories meet certain standards related to personnel qualifications, quality control procedures, and proficiency testing programs to receive CLIA certification. However, CLIA does not require evaluation of the clinical validity or utility of a particular test. Under CLIA, laboratory tests are categorized according to their level of complexity; as the level of complexity increases, the requirements for certification become more rigorous. Furthermore, CLIA has what are called specialty areas for some tests; these specialty areas indicate additional requirements for certification. For example, although clinical cytogenetics is a specialty under CLIA, there is no broader genetics specialty. Consequently, no special requirements exist for laboratories performing DNA-based and other types of genetic tests. No proficiency testing programs in genetics or cytogenetics are required under CLIA.
2) The Federal Food, Drug, and Cosmetic Act (as amended) regulates diagnostic test kits (e.g., in vitro diagnostic devices). During premarket review, the Food and Drug Administration (FDA) assesses a device’s accuracy, clinical sensitivity, and specificity. Most genetic tests are not packaged as test kits. Instead, genetic tests are typically performed by laboratories in which the individual components (reagents) of a test are put together. These tests are often referred to as home brew tests. Home brew tests themselves are not regulated by the FDA, though the components that compose them are. FDA imposes basic requirements such as quality control and labeling on reagents, but does not regulate how they are put together to make a test.
3) During the investigational phases of test development, federally-funded clinical research is subject to federal regulations regarding the protection of human subjects. These regulations can come from a variety of agencies, including the Office of Human Research Protection (OHRP) and the FDA.
Impact on Public Policy:
Over the years, the regulatory mechanisms associated with genetic testing have undergone a reasonable amount of review. Both the National Institutes of Health-Department of Energy Task Force and the Secretary’s Advisory Committee on Genetic Testing, now defunct, have attempted to tackle this issue. However, neither committee has taken significant steps toward a viable public policy solution.
Genetic testing is often the first in a series of steps introducing consumers to genetic services. Yet, the genetic testing industry’s expansion has outgrown the regulatory framework within which it operates. As such, it is difficult to ensure that consumers receive the quality genetic testing services they need. Simply put, there are two essential questions:
1) Is a test of high quality?
2) Is that test useful to an individual?
Consumers must have access to genetic tests that are safe, accurate, and informative. We must enact regulatory policies that address these vital needs. We must also ensure those policies encourage the development of genetic tests, genetic technologies, and the industry that produces these products.
To this end, some possible policy options are as follows:
- Apply FDA regulations for medical devices to home brew tests as well.
- Exempt kit diagnostics from FDA regulations (to level the playing field).
- Raise the level of CLIA regulation, making it more comparable to the FDA.
- Create a payment differential for genetic tests that are FDA-cleared and those that are not. That is, encourage health insurers to provide more coverage for genetic tests that are FDA-approved.
- Require better disclosure of the status of a genetic test that is not FDA-approved.