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Review
. 2023 Oct;98(10):1529-1543.
doi: 10.1016/j.mayocp.2023.04.008. Epub 2023 Aug 24.

An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks

Hannah G Kirby  1 , Heidi L Rehm  2 , Leland E Hull  3
Affiliations
Review

An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks

Hannah G Kirby et al. Mayo Clin Proc. 2023 Oct.

Abstract

As patient access to laboratory testing outside the clinic grows, health care providers can expect to confront increasing questions about the utility and interpretation of consumer-initiated genetic testing for health risks. We sought to characterize the marketplace diversity of consumer-initiated germline genetic testing options. An environmental scan was conducted to identify germline genetic testing companies that offer testing for at least one diagnosable health condition and are available for purchase by consumers in the US market without a visit to one's health care provider. We limited our scope to tests available between October 1, 2019, and September 30, 2021. We characterized variability in the content and processes used by 21 companies offering 74 distinct test products that met our inclusion and exclusion criteria. A minority (8 of 21 companies) offered tests that assessed the presence of at least 1 US Centers for Disease Control and Prevention Tier 1 condition for which detection can impact an individual's clinical care and for which evidence-based guidelines for detection and management exist.

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Conflict of interest statement

Conflict of Interest Disclosure: HGK and LEH have no conflicts of interest to disclose. HLR serves as the clinical laboratory director at the Broad Institute which offers genetic and genomic testing.

Figures

Figure.
Figure.
Flow Diagram for Identification of Companies a We were able to contact 114/21 companies to corroborate the data abstracted from public sources about their test offerings, as noted in subsequent tables.
See this image and copyright information in PMC

References

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