As patient access to laboratory testing outside the clinic grows, healthcare providers can expect to confront increasing questions about the utility and interpretation of consumer-initiated laboratory tests, including germline genetic testing. The aim of this study was to characterize the current marketplace diversity of what has traditionally been labeled “direct-to-consumer” genetic testing options.
A horizon scan was carried out with lab tests meeting the following criteria: (1) available for purchase in U.S. between October 1, 2019, and September 30, 2021, (2) capable of using germline genetic testing to assess risk of at least one diagnosable health condition, and (3) ability to purchase without visiting a provider. We will refer to these tests as “consumer-initiated tests”. Searches were completed of the National Center for Biotechnology Information’s Genetic Test Registry, the U.S. Food and Drug Administration’s list of nucleic acid-based tests, and the International Society of Genetic Genealogy Wiki webpages. In addition, searches were performed on the three largest U.S. search engines and the three largest online retailers. In the initial search, 300 labs were identified. The websites of these laboratories were then reviewed for test offerings that matched the criteria for this study; labs without tests meeting these criteria were eliminated. Information regarding the ordering process, test characteristics, and return of results was abstracted from and validated by the webpages, sample test reports, and lab contacts through email and/or phone.
In the final review of 21 laboratories that offered these tests, two primary models of testing were identified. In Model 1, a participant could pay for testing without any provider involvement. In Model 2, a participant could order a test after electing review by a company-affiliated healthcare provider. Methodologies varied from array-based genotyping to whole genome sequencing, and companies reported individual variants, complex traits, or both. Several labs also offered report customization, reporting of variants of uncertain significance, raw data downloads, and added health reports.
The market for participant-initiated genetic testing for health risks continues to grow as patients seek information about their disease predisposition outside of traditional healthcare settings. Moreover, these patients can obtain raw data for reinterpretation through these testing modalities. Understanding these many test offerings can better equip primary care providers in fielding patient questions on resources such as this.
| Identifer | oai:union.ndltd.org:bu.edu/oai:open.bu.edu:2144/48293 |
| Date | 29 February 2024 |
| Creators | Kirby, Hannah |
| Contributors | Spencer, Jean L., Hull, Leland |
| Source Sets | Boston University |
| Language | en_US |
| Detected Language | English |
| Type | Thesis/Dissertation |
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