May 1, 2010 (Vol. 30, No. 9)
Sharon F. Terry
Comprehensive Information Will Enable All Players to Make Informed Decisions
After several years of calls for a mandatory genetic tests registry from Genetic Alliance, the Genetics and Public Policy Center, the Coalition for 21st Century Medicine, and others, the National Institutes of Health (NIH) has finally taken the first step toward creating a single public resource that provides detailed information about genetic testing providers and the more than 1,600 genetic tests they offer.
The new Genetic Testing Registry (GTR), to be housed at NIH, will be distinguished by its comprehensive nature, requiring evidence of test done, protocols, reagents, and enough parameters to discriminate between the same tests done in different labs. According to the NIH, the GTR will:
- encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests;
- provide an information resource for the public, including researchers, healthcare providers, and patients, to locate laboratories that offer particular tests; and
- facilitate genomic data-sharing for research and new scientific discoveries.
Until now, there has been no comprehensive information available about tests for providers, payers, patients, and consumers to make comparisons and evaluations. The GTR will build on a foundation of openness to create such a resource.
NIH will complete a broad consultation with potential users and submitters while the GTR is being established, which will be integral to its usability and success. All prospective stakeholders, including genetic-test developers, test kit manufacturers, healthcare providers, patients, and researchers, as well as other agencies, such as the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will provide input.
In addition to the valuable feedback each stakeholder group will provide, this demonstration of transparency and collaboration in and of itself is an important indicator of future success for the GTR. Novel partnerships among all stakeholders are crucial for the development of innovative, forward-thinking solutions. Initiatives are only truly collaborative while an environment of openness is maintained.
With comprehensive healthcare reform signed into law on March 23, and the Genetic Information Nondiscrimination Act signed into law almost two years earlier, people in the U.S. now have little to fear in terms of discrimination based on genetic information. Genetic tests, and the innovation and technology that produce and surround them, give us the tools to transform health through genetics. But we must be able to locate, understand, and utilize those tools.
The GTR represents a significant step forward for genetic testing and the integration of genetics into medicine. Over the past decade, the number, types, and indications for genetic tests have evolved and expanded, and it is a demonstration of how far the field has come that such a resource is even needed. Given technology’s inevitable rapid advancement, the numbers and types of tests will continue to grow in the future, leaving information gaps the GTR hopes to fill.
The ultimate goal of genetic testing, and thus the registry, is better health for all individuals, families, and communities. The benefits they will reap from a registry are both informative and life-saving. Currently, the accuracy and validity of tests are often unknown to patients, providers, and payers alike.
A comprehensive, Web-based public database of genetic tests and genetic test providers will get this information out to those who need it all over the world. Individuals and families will then have access to the resources they need to make informed decisions, in order to become partners in the management of their healthcare and stewards of their own health.
Furthermore, it is anticipated that making this information available will increase confidence in and improve the proper utilization of genetic tests, including those ordered by providers and those available directly to consumers. The latter case is particularly noteworthy; the registry will give consumers the resources to analyze and evaluate tests and test providers, as a healthcare provider or genetic counselor is not required in order to access direct-to-consumer tests and results.
Making Participation Mandatory
The testing landscape currently includes a wide range of institutions and companies offering testing services, with a broad range of interests. This diversity results in a spectrum of quality and intentions that include standard-setting good actors, as well as bad actors who ultimately harm the system.
For this reason, the GTR is only a first step; next, the registry should be made mandatory. A system that includes a mandatory registry and enables informed decision-making has the potential to create incentives to increase quality and access for genetic testing through mechanisms such as adverse event reporting to track the harms of testing, and to help ensure high-quality tests.
The National Center for Biotechnology Information (NCBI), part of the National Library of Medicine at NIH, will be responsible for developing the registry. Therefore, GTR genetic-test data will be integrated with other NIH/NCBI databases to facilitate connections for researchers. The registry should also include education regarding basic genetics and the testing process; professional society recommendations and guidelines; information for patients and providers on risk or diagnosis; and referral networks for specialists, researchers, and disease-specific organizations.
Such a layered, linked, and integrated registry would be able to maximize its own potential benefits and facilitate its integration into the genetic testing and healthcare systems. It would provide a gateway for access to services and information, as well as facilitate important connections for those who receive a diagnosis through the testing process.
Ultimately, a mandatory genetic testing registry will improve public health by enabling a forward-looking oversight system that is flexible and nuanced. It would undergird a transformed system that is open, transparent, and coordinated with all stakeholders and agencies, and one that balances safety, innovation, ethical and social issues, viability, and the risks and benefits of improved health.
A registry that includes all tests across the risk continuum and comprehensive standardized information in a format appropriate for the public would enable truly informed decision making by all players.
On occasion, Genetic Alliance is challenged by laboratory directors and organizations that advocate for their interests. The challenge usually comes in the form of this question: “Won’t GTR be onerous for laboratories, creating undue burden for reporting, and therefore, increasing the costs of tests and decreasing access?” We reply that in any system, it is important to strive for metrics that reveal the quality of the system, and burden should not keep the system from striving for the best solutions, particularly when it comes to the health of individuals.
We are certain that there will be increasingly innovative ways to automate the critical data aggregation. A high-quality system for genetic tests will take coordination and cooperation from industry, heathcare providers, government, payers, and patients. We look forward to moving ahead.