A novel clinician interface to improve clinician access to up-to-date genetic results.

作者: Allison R Wilcox , Pamela M Neri , Lynn A Volk , Lisa P Newmark , Eugene H Clark

DOI: 10.1136/AMIAJNL-2013-001965

关键词: Test (assessment)NursingUsage dataGenetic testingMedical emergencyHealth information technologyPrimary outcomeThe InternetElectronic mailInterface (computing)Medicine

摘要: Objectives To understand the impact of GeneInsight Clinic (GIC), a web-based tool designed to manage genetic information and facilitate communication test results variant updates from laboratory clinics, we measured use GIC time it took for new knowledge be available clinicians. Methods Usage data were collected across four study sites launch post-GIC implementation periods. The primary outcome measures (average number days) between change approval notification clinic staff, viewing patient record. Results Post-GIC, provider was shorter than at days 503.8, compared 4.1 post-GIC). After e-mail alerts sent launch, providers clicked into record associated with 91% these alerts. In post period, 95% alerts, on average 12 after sent. Discussion We found that greatly increased likelihood would receive updated as well reduced distributing information, thus providing more efficient process incorporating clinical care. Conclusions Our demonstrate health technology systems have potential effectively assist in utilizing care.

参考文章(14)
Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V Ball, Matthew Mort, Andrew D Phillips, Katy Shaw, Peter D Stenson, David N Cooper, Chris Tyler-Smith, None, Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing American Journal of Human Genetics. ,vol. 91, pp. 1022- 1032 ,(2012) , 10.1016/J.AJHG.2012.10.015
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South, A Working Group of the American, None, American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants Genetics in Medicine. ,vol. 13, pp. 680- 685 ,(2011) , 10.1097/GIM.0B013E3182217A3A
C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon, Brian E Ward, None, ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007 Genetics in Medicine. ,vol. 10, pp. 294- 300 ,(2008) , 10.1097/GIM.0B013E31816B5CAE
Samuel J. Aronson, Eugene H. Clark, Lawrence J. Babb, Samantha Baxter, Lisa M. Farwell, Birgit H. Funke, Amy Lovelette Hernandez, Victoria A. Joshi, Elaine Lyon, Andrew R. Parthum, Franklin J. Russell, Matthew Varugheese, Thomas C. Venman, Heidi L. Rehm, The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing. Human Mutation. ,vol. 32, pp. 532- 536 ,(2011) , 10.1002/HUMU.21470
C. J. Bell, D. L. Dinwiddie, N. A. Miller, S. L. Hateley, E. E. Ganusova, J. Mudge, R. J. Langley, L. Zhang, C. C. Lee, F. D. Schilkey, V. Sheth, J. E. Woodward, H. E. Peckham, G. P. Schroth, R. W. Kim, S. F. Kingsmore, Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing Science Translational Medicine. ,vol. 3, ,(2011) , 10.1126/SCITRANSLMED.3001756
Sharon E. Plon, Diana M. Eccles, Douglas Easton, William D. Foulkes, Maurizio Genuardi, Marc S. Greenblatt, Frans B.L. Hogervorst, Nicoline Hoogerbrugge, Amanda B. Spurdle, Sean V. Tavtigian, , Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results Human Mutation. ,vol. 29, pp. 1282- 1291 ,(2008) , 10.1002/HUMU.20880
William D. Foulkes, Inherited susceptibility to common cancers. The New England Journal of Medicine. ,vol. 359, pp. 2143- 2153 ,(2008) , 10.1056/NEJMRA0802968
Pamela M. Neri, Stephanie E. Pollard, Lynn A. Volk, Lisa P. Newmark, Matthew Varugheese, Samantha Baxter, Samuel J. Aronson, Heidi L. Rehm, David W. Bates, Usability of a novel clinician interface for genetic results Journal of Biomedical Informatics. ,vol. 45, pp. 950- 957 ,(2012) , 10.1016/J.JBI.2012.03.007
Lora J.H. Bean, Stuart W. Tinker, Cristina da Silva, Madhuri R. Hegde, Free the Data: One Laboratory's Approach to Knowledge‐Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data Human Mutation. ,vol. 34, pp. 1183- 1188 ,(2013) , 10.1002/HUMU.22364
Li Weng, Nihan Kavaslar, Anna Ustaszewska, Heather Doelle, Wendy Schackwitz, Sybil Hébert, Jonathan C. Cohen, Ruth McPherson, Len A. Pennacchio, Lack of MEF2A mutations in coronary artery disease Journal of Clinical Investigation. ,vol. 115, pp. 1016- 1020 ,(2005) , 10.1172/JCI24186