| Autor: |
Aronson SJ; 1] Information Systems Department, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, Massachusetts, USA [2] Information Systems Department, Partners HealthCare, Cambridge, Massachusetts, USA., Clark EH, Varugheese M, Baxter S, Babb LJ, Rehm HL |
| Jazyk: |
angličtina |
| Zdroj: |
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2012; Vol. 14 (8), pp. 713-719. Date of Electronic Publication: 2012 Apr 05. |
| DOI: |
10.1038/gim.2012.19 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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