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First, do no harm: direct-to-consumer genetic testing
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False positive results for rare clinically-actionable variants detected by DTC SNP-chips have been described in practice guidance, several case reports and two small case series.
“False positive results for rare clinically-actionable variants detected by DTC SNP-chips have been described in practice guidance [13], several case reports [14,15] and two small case series [16,17].”
From Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing (2019) · cites this paper as [14]
The case in “First, do no harm: direct-to-consumer genetic testing” (page not supplied) describes a woman with a clinically identified pathogenic BRCA2 variant whose DTC test reported low breast-cancer risk and no detected BRCA markers—the opposite of a false-positive result. The paper discusses discrepant DTC results reported by Tandy-Connor et al., but its own case is not a false-positive case report. (LLM, conf=0.88)
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Cites
Tandy-Connor, S., Guiltinan, J., Krempely, K., LaDuca, H., Reineke, P., Gutierrez, S., Gray, P., & Tippin Davis, B. (2018) · Genetics in Medicine · doi:10.1038/gim.2018.38 · Cited by 273 · cited 2×
“In addition, some variants listed as “risk factors” that were received by DTC participants were actually common in population databases and classified as benign by one or more clinical laboratories.(3) Because of these trends, DTC genetic testing should be of concern to health care professionals in all specialties.”
BackgroundResultGollust, S. E., Gordon, E. S., Zayac, C., Griffin, G., Christman, M. F., Pyeritz, R. E., Wawak, L., & Bernhardt, B. A. (2011) · Public Health Genomics · doi:10.1159/000327296 · Cited by 174
Carere, D. A., Kraft, P. L., Kaphingst, K. A., Roberts, J. S., & Green, R. C. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.34 · Cited by 90
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MN, W., L, J., JW, H., KS, R., J, T., AT, H., & CF, W. (2021) · BMJ · doi:10.1136/bmj.n214 · Cited by 51
Nolan, J. J., & Ormondroyd, E. (2023) · Clinical Genetics · doi:10.1111/cge.14332 · Cited by 33
Genetic risk scores in life insurance underwriting
Linnér, R. K., & Koellinger, P. (2021) · Journal of Health Economics · doi:10.1016/j.jhealeco.2021.102556 · Cited by 32
Rasouly, H. M., Cuneo, N., Marasà, M., DeMaria, N., Chatterjee, D., Thompson, J. J., Fasel, D. A., Wynn, J., Chung, W. K., Appelbaum, P. S., et al. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1364 · Cited by 29
“Numeracy, health, health insurance, and eHeath literacies have been independently associated with better understanding of the benefits of testing and acting on medical instructions (Dewalt et al., 2004; Levitt, 2015; Norman & Skinner, 2006; Schillinger et al., 2002; Schwartz et al., 1997).”
BackgroundWeedon, M. N., Jackson, L., Harrison, J. W., Ruth, K. S., Tyrrell, J., Hattersley, A. T., & Wright, C. F. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/696799 · Cited by 19
Rahma, A. T., Elbarazi, I., Ali, B. R., Patrinos, G. P., Ahmed, L. A., & Al‐Maskari, F. (2021) · Public Health Genomics · doi:10.1159/000513753 · Cited by 22
A Novel Quality-Control Procedure to Improve the Accuracy of Rare Variant Calling in SNP Arrays
Sun, T.-H., Shao, Y. J., Mao, C.-L., Hung, M., Lo, Y.-Y., Ko, T., & Hsiao, T. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.736390 · Cited by 18
“Also, several companies, such as 23andme, provide direct-to-consumer genetic testing services which assess genetic risks for diseases or health conditions using SNP arrays (Tandy-Connor et al., 2018; Horton et al., 2019; Schleit et al., 2019).”
BackgroundKnoppers, T., Beauchamp, E., Dewar, K., Kimmins, S., Bourque, G., Joly, Y., & Dupras, C. (2021) · New Genetics and Society · doi:10.1080/14636778.2021.1997576 · Cited by 17
“…utility of DTC-GT, misleading marketing, and the lack of counseling through a healthcare professional (Caulfield and McGuire 2012; Goldsmith et al. 2013; Hazel and Slobogin 2018; Hennen, Sauter, and Cruyce 2010; Hogarth, Javitt, and Melzer 2008; Saukko 2013; Schleit, Naylor, and Hisama 2019).”
BackgroundPolicy Guidance for Direct-to-Consumer Genetic Testing Services: Framework Development Study
Onstwedder, S., Jansen, M., Cornel, M., & Rigter, T. (2024) · Journal of Medical Internet Research · doi:10.2196/47389 · Cited by 9
“…factors include the media via which consumers are often exposed to offers of tests, such as TikTok [34] and YouTube [54], and consumer motivations to purchase, including the motivation to improve their own health [55] or an adoptee’s health without knowledge of the family disease history [56].”
Genetics in congenital heart disease. Are we ready for it?
Backer, J. F. A. D., Callewaert, B. L., & Mosquera, L. M. (2020) · Revista Española de Cardiología (English Edition) · doi:10.1016/j.rec.2020.05.019 · Cited by 8
An investigation of the consumer’s trusting mechanism in emerging healthcare technology
Wei, X., Xie, H., Peng, X., & Prybutok, V. R. (2020) · Industrial Management & Data Systems · doi:10.1108/imds-06-2020-0321 · Cited by 9
Genética en la cardiopatía congénita: ¿estamos preparados?
Backer, J. F. A. D., Callewaert, B. L., & Mosquera, L. M. (2020) · Revista Española de Cardiología · doi:10.1016/j.recesp.2020.05.031 · Cited by 9
Cardiogenetics: a primer for the clinical cardiologist
Otto, C. M., Savla, J. J., & Hisama, F. M. (2020) · Heart · doi:10.1136/heartjnl-2019-316241 · Cited by 7
Self-citationToward a More Just System of Care in Molecular Pathology
Lilley, C. M., DELILLE, M., Mirza, K., & Parilla, M. (2022) · Milbank Quarterly · doi:10.1111/1468-0009.12587 · Cited by 7
Charnysh, E., Hendy, K., Ryan, K. A., Prince, A. E. R., Feero, W. G., Vogle, A., McCain, S., Truhlar, A., Roberts, J. S., Lee, C., et al. (2025) · Journal of Genetic Counseling · doi:10.1002/jgc4.70016 · Cited by 4
“GCs' concerns about the potential for positive test results to lead to shock and anxiety also echo the concerns and speculations about psychosocial harm raised in the DTC-GT literature (Dohany et al., 2012; Kilbride et al., 2018; Schleit et al., 2019).”
Cutica, I., Cincidda, C., Oliveri, S., Mainetti, R., Borghese, N. A., & Pravettoni, G. (2023) · Games for Health Journal · doi:10.1089/g4h.2022.0041 · Cited by 3
Lee, N. M., VanDyke, M. S., Abitbol, A., Wallace, K., & Meneses, C. (2024) · Journal of Genetic Counseling · doi:10.1002/jgc4.1967 · Cited by 3
“Likewise, in a letter to the editor of Genetics in Medicine , Schleit et al. (2019) stated that harm in the field of genetics overall could include “(1) failure to diagnose a genetic condition; (2) inappropriate diagnosis of a genetic condition, resulting in unnecessary treatment, or failure to…”
Hasser, E., Peshkin, B. N., Hamilton, J. G., Brower, J., Ovadia, H., Ross, L. F., Sacca, R. E., Tarini, B. A., Domchek, S. M., Vittone, S. B., et al. (2023) · Journal of Genetic Counseling · doi:10.1002/jgc4.1685 · Cited by 3
“For example, misunderstanding regarding the scope of the test or the results may lead to either inappropriate reassurance about cancer and other disease risks, or unnecessary alarm and worry (Schleit et al., 2019; Tandy- Connor et al., 2018).”
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Lee, A., Neidich, J., & Nguyen, H. (2022) · PubMed Central · Cited by 3
Steijvoort, E. V., Goossens, K., Demesure, K., Stanczak, A., Siermann, M., & Borry, P. (2025) · Open Research Europe · doi:10.12688/openreseurope.19751.1 · Cited by 2
“The field of genetic and genomic medicine, considered to hold substantial potential for personalized medicine, is increasingly evolving from primarily focusing on rare monogenic conditions to the prediction of risk for prevalent complex conditions 1,2 .”
Charnysh, E., McCain, S., Truhlar, A., Pal, S., Reader, J. M., Sanghavi, K., Uhlmann, W. R., Hendy, K., Leader, A. E., Blasco, D., et al. (2025) · Personalized Medicine · doi:10.1080/17410541.2025.2515003 · Cited by 2
Steijvoort, E. V., Goossens, K., Demesure, K., Stanczak, A., Siermann, M., & Borry, P. (2025) · Open Research Europe · doi:10.12688/openreseurope.19751.2 · Cited by 2
Linnér, R. K., & Koellinger, P. (2020) · medRxiv · doi:10.1101/2020.03.30.20047290 · Cited by 2
“However, at this moment, many genetic testing services hide 15 behind extensive disclaimers to void them of responsibility, which could be considered a 16 questionable practice (Schleit, Naylor, and Hisama 2019).”
BackgroundYin, Z., Song, L., Clayton, E. W., & Malin, B. (2019) · arXiv (Cornell University) · doi:10.48550/arxiv.1904.02065
Neurogeneticists Handle the Fallout from Direct-to-Consumer Genetic Tests
Shaw, G. (2019) · Neurology Today · doi:10.1097/01.nt.0000602988.43743.0b
Vera, M., & Lin, H. J. (2021) · American Academy of PediatricsItasca, IL eBooks · doi:10.1542/9781610023733-20
Neighborhood Opportunity and Genetic Literacy in a Representative Sample of US Adults
Bather, J. R., Goodman, M. S., & Kaphingst, K. A. (2026) · Prevention Science · doi:10.1007/s11121-026-01908-0
“In addition, low genetic literacy is suspected to lead to poor understanding of genetic test results, resulting in patients not following recommended care plans or failing to attend essential follow-up screenings (Schleit et al., 2019).”
Influential
Metadata
- Authors
- Schleit, J., Naylor, L. V., & Hisama, F. M.
- Affiliations
- Seattle Cancer Care Alliance (US)
- University of Washington (US)
- Corresponding author
- Schleit, Jennifer
- ORCID
- Hisama, Fuki M.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2019-02
- Volume
- 21
- Issue
- 2
- Pages
- 510-511
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2808465483
- Cited by
- 28
- References
- 3
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 2 · 2023: 3 · 2022: 2 · 2021: 7 · 2020: 6 · 2019: 3
- FWCI
- 2.45
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Nursing › Issues, ethics and legal aspects › Biomedical Ethics and Regulation
- Social Sciences › Law › Medical and Health Sciences Research
- Keywords
- direct-to-consumer genetic testing, BRCA2 mutation, 23andMe, false reassurance, genetic counseling, breast cancer risk, prophylactic surgery, patient experience, family history of cancer, cost of genetic testing, informed consent
- MeSH terms
- Direct-To-Consumer Screening and Testing, Female, Genetic Testing, Humans, Middle Aged, Risk Assessment, Genes, BRCA2
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