{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kirby HG"],"funding":["NHGRI NIH HHS","National Institutes of Health","National Human Genome Research Institute"],"pagination":["1529-1543"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10593045"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["98(10)"],"pubmed_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."],"journal":["Mayo Clinic proceedings"],"pubmed_title":["An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks."],"pmcid":["PMC10593045"],"funding_grant_id":["K08 HG012221","K08HG012221"],"pubmed_authors":["Hull LE","Rehm HL","Kirby HG"],"additional_accession":[]},"is_claimable":false,"name":"An Environmental Scan of Consumer-Initiated Germline Genetic Testing for Health Risks.","description":"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.","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Oct","modification":"2026-06-06T21:27:14.706Z","creation":"2025-04-04T01:03:19.928Z"},"accession":"S-EPMC10593045","cross_references":{"pubmed":["37632486"],"doi":["10.1016/j.mayocp.2023.04.008"]}}