Washington, DC - July 06, 2009 - A new paper in the journal Public Health Genomics argues that a mandatory registry of genetic tests is a crucial first step toward increasing the quality and transparency of genetic testing. The paper, written by Center staff members Gail Javitt, Sara Katsanis, Joan Scott, and Kathy Hudson, also lays out a proposal for implementing such a registry.
Genetic tests now are available for more than 1700 conditions, and can form the basis for decisions about disease treatment and prevention, and even whether or not to have children. Yet oversight of genetic tests has not kept pace with the increasing availability and complexity of such tests, as the Center has argued. Though a registry on its own would not close that gap, it represents “a critical first step in the development of a more transparent, quality-centered system of oversight that will better inform and protect the public,” and would provide an important tool for consumers and health care providers, the authors write. The registry idea is not a new one, they note: the Secretary’s Advisory Committee on Genetics, Health, and Society in April 2008 recommended implementing a mandatory registry, a recommendation that the Department of Health and Human Services (HHS) has yet to act upon.
The authors propose several key features needed to make a new registry effective:
1. It should be mandatory, with penalties imposed for noncompliance.
2. Both clinical laboratories, and test distributors that “either advertise testing services beyond the laboratory’s stated indications or provide interpretation that is different from or additional to that which is provided by the laboratory,” should be required to register.
3. For practical reasons, the registry initially should be limited to genetic tests that are health related. Providers of tests for ultra-rare disorders would be exempt from some reporting requirements that could be unduly burdensome.
4. The registry would “contain information adequate to assess how reliable a test is (analytic validity), how the results relate to current and future disease risk or health status (clinical validity), and how useful the results are in informing patient diagnosis or treatment or in disease prediction, management, or prevention (clinical utility).”
The authors also address legal aspects to launching a registry. Both the Federal Food, Drug, and Cosmetics Act and the Clinical Laboratory Improvement Amendments confer on HHS the authority to establish a registry, they explain. Two potential homes for the registry within HHS are the National Institutes of Health (NIH), which has extensive expertise in registry development and implementation, and the Food and Drug Administration (FDA), which has significant enforcement capability. In either case FDA should be charged with enforcement, the authors argue, as it has the ability to impose civil and criminal penalties for non-compliance.
“The establishment of a test registry is critical for informed decision making by health care providers, payers, and patients in both the United States and other countries, all of whom need ready access to truthful information about genetic tests,” the authors conclude. “It is a critical first step in the development of a more transparent, quality-centered system of oversight that will better inform and protect the public.” – Shawna Williams
Javitt, G., S. Katsanis, J. Scott, and K. Hudson. 2009. Developing the Blueprint for a Genetic Testing Registry. Public Health Genomics[end pdflink] (published online ahead of print).
Issue brief – Who regulates genetic tests?
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