A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing

DSpace/Manakin Repository

A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing

Citable link to this page


Title: A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing
Author: Han, Paul K. J.; Umstead, Kendall L.; Bernhardt, Barbara A.; Green, Robert C.; Joffe, Steven; Koenig, Barbara; Krantz, Ian; Waterston, Leo B.; Biesecker, Leslie G.; Biesecker, Barbara B.

Note: Order does not necessarily reflect citation order of authors.

Citation: Han, Paul K. J., Kendall L. Umstead, Barbara A. Bernhardt, Robert C. Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B. Waterston, Leslie G. Biesecker, and Barbara B. Biesecker. 2017. “A Taxonomy of Medical Uncertainties in Clinical Genome Sequencing.” Genetics in medicine : official journal of the American College of Medical Genetics 19 (8): 918-925. doi:10.1038/gim.2016.212. http://dx.doi.org/10.1038/gim.2016.212.
Full Text & Related Files:
Abstract: Purpose Clinical next generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. Methods: Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts, and themes were extracted in order to expand upon a previously published three-dimensional taxonomy of medical uncertainty. In parallel we developed an interactive website to disseminate the CNGS taxonomy to researchers and engage them in its continued refinement. Results: The proposed taxonomy divides uncertainty along three axes: source, issue, and locus, and further discriminates the uncertainties into five layers with multiple domains. Using a hypothetical clinical example, we illustrate how the taxonomy can be applied to findings from CNGS and used to guide stakeholders through interpretation and implementation of variant results. Conclusion: The utility of the proposed taxonomy lies in promoting consistency in describing dimensions of uncertainty in publications and presentations, to facilitate research design and management of the uncertainties inherent in the implementation of CNGS.
Published Version: doi:10.1038/gim.2016.212
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517355/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:34375077
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)


Search DASH

Advanced Search