The DOI matches its Crossref record; 34 of the 34 references it cites were found in a registry or an index.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Open accessAbstract
Purpose:Concerns about patient safety and the potential for medical error are largely unexplored for genetic testing, despite the expansion of test use. In this preliminary qualitative study, we sought the views of genetics professionals about error and patient safety concerns in genomic medicine and factors that might mitigate them.Methods:Twelve semistructured interviews with experienced genetics professionals were conducted. Transcripts were analyzed using selective coding for issues related to error definition, mitigation, and communication. Additional thematic analysis captured themes across content categories.Results:Key informants suggested that the potential for adverse events exists in all phases of genetic testing, from ordering to analysis, interpretation, and follow-up. A perceived contributor was lack of physician knowledge about genetics, resulting in errors in test ordering and interpretation. The limitations and uncertainty inherent to rapidly evolving technology were also seen as contributing factors. Strategies to prevent errors included physician education, availability of genetic experts for consultation, and enhanced communication such as improved test reports and electronic decision support.Conclusion:Genetic testing poses concerns for patient safety due to errors and the limitations of current tests. As genomic tests are integrated into medical care, anticipating and addressing patient safety concerns identified by these key informants will be crucial.Genet Med 18 11, 1136–1142.
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Cites
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Cited by
Clark, M. M., Stark, Z., Farnaes, L., Tan, T. Y., White, S. M., Dimmock, D., & Kingsmore, S. F. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0053-8 · Cited by 619
Self-citationLionel, A. C., Costain, G., Monfared, N., Walker, S., Reuter, M. S., Hosseini, S. M., Thiruvahindrapuram, B., Merico, D., Jobling, R., Nalpathamkalam, T., et al. (2018) · Genetics in Medicine · doi:10.1038/gim.2017.119 · Cited by 557
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0049-4 · Cited by 445
Dimmock, D., Caylor, S., Waldman, B., Benson, W., Ashburner, C., Carmichael, J. L., Carroll, J., Cham, E., Chowdhury, S., Cleary, J., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.008 · Cited by 259
Petrikin, J. E., Cakici, J. A., Clark, M. M., Willig, L. K., Sweeney, N. M., Farrow, E. G., Saunders, C. J., Thiffault, I., Miller, N. A., Zellmer, L., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0045-8 · Cited by 229
Metadata
- Authors
- Stark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D., Cowie, S., Amor, D. J., Savarirayan, R., McGillivray, G., Downie, L., Ekert, P. G., Theda, C., James, P. A., Yaplito-Lee, J., Ryan, M. M., Leventer, R. J., Creed, E., Macciocca, I., Bell, K. M., Oshlack, A., Sadedin, S., Georgeson, P., Anderson, C., Thorne, N., Gaff, C., & White, S. M.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 18
- Issue
- 11
- Pages
- 1090-1096
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2291038846
- Cited by
- 396
- References
- 34
- FWCI
- 37.18
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Stark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., Yeung, A., Peters, H., Mordaunt, D., Cowie, S., Amor, D. J., Savarirayan, R., McGillivray, G., Downie, L., Ekert, P. G., Theda, C., James, P. A., Yaplito-Lee, J., Ryan, M. M., . . . White, S. M. (2016). A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine. https://doi.org/10.1038/gim.2016.1
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