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Clinical Laboratories and Pathology Groups

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Clinical Laboratories and Pathology Groups

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Comprehensive genetic test database intended for use by pathologists, physicians, researchers and consumers

Pathologists and clinical laboratory managers will soon have a comprehensive registry of genetic tests that they can consult as needed. The National Institutes of Health (NIH) is creating a single public registry with detailed information about both genetic test providers and the 1,600+ genetic tests these providers offer.

The NIH believes the genetic test registry will bring greater transparency to the field. It hopes that the registry creates increased information-sharing about the different genetic tests which are available. Participation in the registry will be voluntary, though groups such as the Genetic Alliance have called for making it mandatory to help weed out what they call “the bad actors” in the industry.

Genetic Testing Registry

The new genetic testing registry will collect comprehensive information from providers, including evidence of accuracy and clinical usefulness.

The genetic test registry will also help consumers better understand the genetic tests available. It will be designed to allow consumers to compare the accuracy, the validity, and the usefulness of genetic tests. Included in the registry will be those direct-to-consumer tests that may or may not have clinical utility.

Previously, there has been no central database of genetic tests, making it nearly impossible to compare tests from provider to provider. According to NIH, the goal of the Genetics Testing Registry (GTR) is to “advance public health and research into the genetic basis of health and disease.” The registry will have three major functions:

  • Encourage providers of genetic tests to publicly share information about the availability and utility of their tests.
  • Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests.
  • Facilitate genomic data-sharing for research and new scientific discoveries.

NIH is working with the Food and Drug Administration and the Centers for Medicare & Medicaid Services (which enforces CLIA regulations) to streamline data submission, since many genetic test providers are currently required to provide similar information to these agencies.

Providers of genetic tests may include clinical laboratories, anatomic pathology laboratories, in vitro diagnostics (IVD) test manufacturers, entities that report and interpret tests performed elsewhere, and laboratories outside the United States. For the purposes of the GTR, a genetic test will be defined as “a test that involves an analysis of human chromosomes, DNA, RNA, genes and/or gene products (e.g., enzymes and other types of proteins), which is predominantly used to detect heritable or somatic mutations, genotypes, or phenotypes related to disease and health.”

The new registry will collect comprehensive information from providers, including evidence of accuracy and clinical usefulness. Providers will be encouraged to submit explicit molecular information about the tests they perform and to cite published support for their assertions.

The database will also include contact information for providers and details on how to order the tests listed.

“The need for this database reflects how far we have come in the last 10 years,” said NIH Director Francis S. Collins, M.D., Ph.D. “The registry will help consumers and healthcare providers determine the best options for genetic testing, which is becoming more and more common and accessible. Our combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry.”

NIH statements about the GTR suggest that it plans to link data in the GTR to other databases under its control, so that information about listed tests can be updated as new data becomes available. Each test will be assigned a unique reference number that can be used across all NIH databases and publications.

The National Center for Biotechnology Information within NIH will design, create and maintain the GTR, with oversight by an NIH Steering Group and Scientific Group. The center is currently gathering input from stakeholders.

The clinical laboratory industry has an interest in the design of the database, both as providers of tests and as entities that order genetic tests at the request of referring physicians. The usefulness of the database to both providers and information seekers will depend on how the submission process works and the quality of the information contained in the Genetic Test Registry. Pathologists and clinical laboratory managers who want to give the designers of the GTR their input can do so by email, at

—K. Branz

Related Information

NIH Announces Genetic Testing Registry-
Database to Fill Information Gaps and Serve as Research Resource

Genetic Testing Registry Benefits-
Comprehensive Information Will Enable All Players to Make Informed Decisions, Genetic

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