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.
Introduction
Since the inception of the Human Genome Project in 1990, genetic testing has become an increasingly integral component in the diagnosis, treatment, management, and prevention of numerous diseases and conditions. Today, the number of genetic tests available is rising dramatically, with new tests entering the healthcare market every day. Information gained from genetic test results has a significant impact on medical decision-making. Incorrect genetic test results can lead to misdiagnosis, inappropriate and/or delayed treatment, anxiety, and, in rare cases, even death. While there are many diligent laboratories that comply with voluntary measures to ensure quality, the absence of oversight creates an environment in which poor performers can continue in the marketplace and bad actors can go undetected and uncensored. From the doctor and patient’s perspective, moreover, the minimalist level of regulation makes it difficult to distinguish high quality from low quality laboratories. As the role of genetic testing in medicine continues to grow, so too does the urgent need to ensure that the genetic tests offered to the public are accurate and reliable and provide information relevant to a patient’s current or future health status.
Laboratories that perform genetic testing for health-related purposes must be certified by CMS pursuant to the Clinical Laboratories Improvements Amendments of 1988 (CLIA). Congress enacted CLIA to ensure that clinical laboratories consistently perform tests in a valid and reliable manner. The stringency of CMS oversight under CLIA depends on the complexity of the test. “High complexity” tests are generally grouped according to “specialty areas” and are subject to additional requirements to ensure safety. In particular, they are subject to specified “proficiency testing” standards, which require them to demonstrate their ability to accurately perform their tests. Under CLIA, clinical genetic tests are considered to be high complexity, but CLIA regulations do not contain a specialty area for molecular and biochemical genetic tests, and do not specify proficiency tests for them.
Beginning in the mid-1990s, key federal agencies began to take note of the growing use of genetic tests in clinical practice, and to raise concerns about the adequacy of oversight for both genetic tests and the laboratories that develop and perform them. In 1997, a joint task force of the National Institutes of Health (NIH) and the Department of Energy (DOE) issued several recommendations to improve the quality of genetic testing, including a recommendation for enhanced regulation of genetic testing laboratories.1 Subsequently, an advisory committee to the Centers for Disease Control (CDC) recommended that the regulation of clinical laboratories be amended to include a genetic testing specialty area.
In May 2000, these recommendations were published in the Federal Register for public comment as a Notice of Intent (NOI), with the statement that the Centers for Medicare and Medicaid Services (CMS), an agency within the Department of Health and Human Service (HHS) would issue a proposed rule based on comments received.2 The NOI noted that, along with the “tremendous potential for improving health and preventing disease, genetic testing can also do great harm” if errors occur in test selection, performance, or interpretation.3 The NOI cited literature pointing to errors or substandard practice in each of these categories.
The CDC received 57 comments in response to the NOI. The CDC reviewed these comments and, apparently finding them largely negative with respect to the recommendations, asked the advisory committee to further analyze the issues raised by the NOI and to suggest modifications. In February 2001 the advisory committee completed its report and recommended that the Department of Health and Human Services proceed with the development of a proposed rule to create a genetic testing specialty under CLIA.
Five years after the publication of the NOI, CMS has not proposed the creation of a genetic testing specialty. Neither the advisory committee’s revised recommendations nor the proposed rule has been published. The record has gone virtually silent.
From the public’s perspective, the process begun with much enthusiasm and sense of mission a decade ago has come to a grinding halt. Those who submitted comments five years ago have seen no further action by CDC or CMS regarding the creation of a genetic testing specialty, nor have they heard any rationale for the government’s failure to proceed notwithstanding the recommendations of its own advisory committee.
The failure of CMS to proceed with the creation of a genetic testing specialty has meant federal oversight of genetic testing laboratories continues to be inadequate to ensure quality. Meanwhile, the number of new gene discoveries, commercially available genetic tests, and emerging genetic testing technologies continue to increase dramatically. The need to assure the American public that genetic testing is safe and reliable has never been more urgent. Thus, continued inaction by the government agencies responsible for public health and clinical laboratory quality is unacceptable. Is this inaction caused by the perception that comments to the NOI raised irresolvable concerns, or has the agency simply dropped the ball? In an effort to discern the reason for the delay, we reviewed the comments submitted to the agency to see whether there was an overall favorable or unfavorable reaction to the recommendations. As this White Paper describes, we found substantial support for the creation of a genetic testing specialty, with concerns regarding only a few of the recommendations.
