Improved Display and Search of Tests in the NIH Genetic Testing Registry (GTR)
Laboratory Genetics and Genomics
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Primary Categories:
- Clinical Genetics
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Secondary Categories:
- Clinical Genetics
Introduction:
Methods:
Results:
Conclusion:
NIH Genetic Testing Registry (GTR) is a free online repository of clinical and research genetic tests, including tests for Mendelian disorders, cancer, and pharmacogenetics, as well as microbial tests for infectious disease and health. Test information is voluntarily submitted by US and international laboratories. As of November 13, 2024, GTR includes over 68K tests (67435 molecular , 605 cytogenetic, and 633 biochemical genetic tests) submitted by 429 laboratories from 48 countries, covering ~18K genes and ~26K conditions. Each test in GTR has a unique accession identifier and the original submission as well as each update is versioned and publicly available. GTR aims to provide access to currently available tests which requires submitters to review their data annually.
Standardized submission via web form, spreadsheet, or API offers many advantages provided by structured data: key field information is uniformly displayed and indexed. GTR’s search feature enables clinicians to find the most appropriate test for their patients, while the viewer allows easy access to all available information submitted for the test. Here we describe a new test viewer and improvements to the search feature, using an end-user needs-driven approach.
Methods:
GTR conducted online interviews with clinicians, genetic counselors, and other users to receive feedback on improvement plans and understand user behavior and needs: Spring 2023 (5), Summer 2023 (5), and Spring 2024 (4). We developed user-interface (UI) designs and created technical plans to address issues that were identified. Feedback received in person at conferences or via web contact forms also informed the design. We used agile, iterative methods during implementation. The new test viewer was restricted to genetic tests only.
Results:
In the new viewer, all test information is displayed on a single page to improve visibility, instead of in tabs as in the ‘classic’ view. The information is organized by sections: At a Glance, Ordering Information, Conditions, Test Targets, Methodologies, Clinical Information, Technical Information, Regulatory Approval, and Additional Information. An in-page navigation tool allows the user to move to any section from any location on the test page. The test name, laboratory and key metadata are displayed at the top, including links to the laboratory in GTR and laboratory website, and test version history. A new feature is the inclusion of clinical categories, calculated from submitter-provided data for conditions for which the test is indicated. The section ‘At a glance’ allows for a quick look at key information.
The primary goal of the search improvements was to make it easy to find tests and laboratories offering tests of interest. The improved search feature offers a single search box with autosuggest dictionaries for genes, conditions, and laboratories, and allows users to enter multiple types of search terms. A search query directly returns test results and the associated laboratories related to the query. Summary information panels for genes, conditions, and laboratories, allow discovery of information related to the test. Dynamic filters and improved Boolean logic allow the user to further refine the search results. Test data can be downloaded in spreadsheet format. The GeneReviews search is now a standalone search feature on the GTR homepage.. The Advanced search UI has been updated so that users can quickly identify tests of interest and allows searching by CPT code or clinical categories.
Conclusion:
Clinicians and GTR users have access to a new mobile-compatible test viewer with easier in-page navigation and improved display of test information. Users should expect a more intuitive search UI, and greater efficiency in finding a test or laboratory related to their queries. This work was supported by the National Center for Biotechnology Information of the National Library of Medicine (NLM), National Institutes of Health.