How to Read the Genetic Testing Registry

Why is this concept necessary?

When seeking genetic testing options, the initial question that typically arises is “What tests are available?” However, identifying a list of tests is distinct from determining which test is appropriate for a specific individual.

The Genetic Testing Registry (GTR) is a public resource that allows users to search for and compare genetic and genomic tests. The role of GTR is to facilitate access to information about tests and testing laboratories in one centralized location; it does not prescribe specific tests for individuals or confirm results as definitive diagnoses.

Core Concept — The Registry as an Information Layer, Not a Clinical Judgment

Test selection involves multiple layers:

Clinical Question
   ↓
Search for test subject, methodology, and laboratory information
   ↓
Verify the analytical and clinical significance of the test
   ↓
Integrate with patient history, phenotype, and family history
   ↓
Pre-test counseling and clinical decision-making

GeneTests (GTR) supports the central layer of “search and comparison.” The mere existence of search results does not automatically guarantee test quality, suitability for an individual patient, or the clinical utility of the results.

Participation in GTR is voluntary, and much of the publicly available information is submitted by test providers. Administrative verification by NCBI is not equivalent to independent performance and clinical validation conducted by the NIH.

What to Verify in GTR

When searching, do not look only at the test name; you should also verify the following information:

• What condition or phenotype does it target?
• Which gene, variant, chromosome, or molecular target is measured?
• What method is used (e.g., sequencing, array, biochemical, cytogenetic)?
• Which laboratory provides the test?
• Is it a clinical test or a research test?
• What is the intended purpose and target population of the test?
• What are the record’s accession and version numbers, and what is the reference date of the information?
• Are there any blank recommended/optional fields?

These fields help distinguish “what kind of test is being measured?” from “for what questions can its measurement results be used?”

Small Example — Even for the Same Gene, the Questions Differ

Suppose you have searched for a specific gene, GENE-X. If multiple tests appear in the search results, they may serve different purposes, as outlined below:

This table does not provide rules to replace clinical decision-making in selecting a test. Appropriate test selection should be determined by considering the clinical question, specimen type, test performance characteristics, laboratory capabilities, and genetic counseling.

Differences Between Registration Information and Independent Verification

GTR’s test information is compiled based on submissions from test providers and data provided by NCBI and its affiliated resources. Thus, the presence of information in the registry does not imply that NIH endorses the test or the testing laboratory.

This distinction is important when interpreting the database:

1. The registry serves as a starting point for discovery.
2. Test performance and clinical utility should be evaluated by reviewing specific information about the individual test and its corresponding laboratory.
3. The clinical significance of test results should be interpreted in the context of the patient’s phenotype, family history, and prior testing.
4. Clinical genetic counseling or consultation with appropriate medical specialists should be sought when necessary.

Points of Confusion

Are all registered tests clinically recommended?

No. The Global Terminology Registry (GTR) provides test information, but registration itself does not constitute independent quality certification or individualized recommendations.

Can a test be ordered immediately upon finding it in the GTR?

Searching may help clarify questions prior to ordering, but actual orders must account for local regulations, laboratory accreditation, specimen requirements, patient consent, and clinical necessity.

Does a test result confirm a diagnosis?

No. Test results derive their meaning from the context of clinical information and interpretation. In particular, one must separately evaluate the pathogenicity of variants, concordance with phenotype, assay limitations, and the implications of negative findings.

Current Evidence and Limitations

• The Genetic Testing Registry (GTR) can be described as an information resource for searching genetic and genomic tests that clinicians may order.
• Test information must include condition, gene, method, laboratory, and clinical/research purpose.
• NIH advises that it does not independently verify GTR submission data or endorse specific tests or laboratories.
• The number of tests, records, versions, and coverage are subject to change; thus, the date of access and individual record versions should be documented.
• The digits after the dot in a GTR accession represent the version number; laboratories may assign new versions and "last updated" dates when they modify records.

Connection Concept / Story

• Concept: genetic testing, clinical validity, analytical validity, variant interpretation
• Story candidate: The process by which a clinical question is narrowed down to test selection and result interpretation

References

• NIH Genetic Testing Registry
• GTR overview
• GTR FAQ
• Accessing and using GTR data
• GTR search updates
• GTR submission process