Pew Funds Genetics and Public Policy Center's New Consumer Genetics Project
The Pew Charitable Trust has awarded $750,000 to the Genetics and Public Policy Center for a new project focused on consumer protections for applications of genetic testing.
Conclusion: Why a Specialty is Needed
In the 18 years since Congress enacted CLIA, genetic testing has become a critical part of clinical medicine, and among the fastestgrowing areas of laboratory testing (52). In that time frame, the number of genetic tests has increased more than tenfold. New companies offering genetic tests to healthcare providers and consumers appear with increasing frequency.
Yet, because of CMS’s inattention and delay in implementing CLIA, neither healthcare providers nor consumers can be confident in the oversight mechanisms in place to ensure genetic tests are accurate and reliable. While genetic science and genetic technologies have leapt into the 21st century, the agency entrusted with ensuring laboratory quality is stuck in the past. The mandate from Congress under CLIA was clear: Laboratories must participate in proficiency testing for each test they perform unless proficiency testing cannot be developed. Congress was equally clear that the absence of proficiency-testing programs or the difficulty in establishing such programs was not an adequate reason for failing to require participation in proficiency testing. Yet CMS has not mandated participation in proficiency testing for any genetic tests, nor has it demonstrated that creation of proficiency-testing programs is not possible.
Congress was similarly clear regarding the need for transparency regarding laboratory quality. To that end, the law required CMS to create a program to make the results of proficiency-testing programs available to the public. No such program has been created. Nor does CMS make available to the public information on whether a laboratory is certified under CLIA. CMS could easily make this information available to healthcare providers and the public. Without this information, providers and patients are kept in the dark regarding the qualifications and competence of the laboratories that provide critical healthcare information.
To be sure, many genetic testing laboratories in the United States are of very high quality, and go beyond the current minimal standards to ensure the accuracy and reliability of the genetic tests they perform. But, as the Genetics and Public Policy Center’s survey of genetic testing laboratory directors reveals, some laboratories are not routinely performing proficiency testing and are not following recommended quality control procedures. Moreover, the survey indicates a correlation between proficiency testing and laboratory quality. A genetic testing specialty under CLIA would provide a mechanism for mandating both formal and informal proficiency testing. Additionally, a genetic testing specialty under CLIA would standardize quality control methods to ensure adherence to the recommended standards.
Genetic testing will have an increasing impact on public health through improved diagnosis, treatment, and prevention of disease. However, the promise of genetics to improve health and healthcare will not be realized unless genetic tests provide accurate and reliable test results. Policy to require that genetic testing be accurate and reliable has not kept pace with the growth of genetic tests. In enacting CLIA, Congress was explicit regarding the need for improved quality standards. With respect to genetic testing quality, CMS has failed to meet the expectations of Congress and the public. The creation of a genetic testing specialty is a critical first step to ensuring that laboratories have demonstrated capability to perform accurate and reliable tests. The time is now for CMS to move expeditiously to protect the public’s health.
