Communicating new knowledge on previously reported genetic variants View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-08

AUTHORS

Samuel J. Aronson, Eugene H. Clark, Matthew Varugheese, Samantha Baxter, Lawrence J. Babb, Heidi L. Rehm

ABSTRACT

Genetic tests often identify variants whose significance cannot be determined at the time they are reported. In many situations, it is critical that clinicians be informed when new information emerges on these variants. It is already extremely challenging for laboratories to provide these updates. These challenges will grow rapidly as an increasing number of clinical genetic tests are ordered and as the amount of patient DNA assayed per test expands; the challenges will need to be addressed before whole-genome sequencing is used on a widespread basis.Information technology infrastructure can be useful in this context. We have deployed an infrastructure enabling clinicians to receive knowledge updates when a laboratory changes the classification of a variant. We have gathered statistics from this deployment regarding the frequency of both variant classification changes and the effects of these classification changes on patients. We report on the system's functionality as well as the statistics derived from its use.Genet Med advance online publication 5 April 2012. More... »

PAGES

713

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/gim.2012.19

DOI

http://dx.doi.org/10.1038/gim.2012.19

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041636360

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22481129


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