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Proband

Proband. Incorporating Structured Pedigree Data into Genomic Medicine Through a Pedigree and Family History iPad App.

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Proband

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  1. Proband Incorporating Structured Pedigree Data into Genomic Medicine Through a Pedigree and Family History iPad App • Jeffrey M. Miller1, Michael J. Italia1, Elizabeth T. Dechene2, Alisha Wilkens2, Mindy H. Li2, Colleen E. Gaynor1, Nancy B. Spinner3,4, Ian D. Krantz5, Jeffrey W. Pennington1, Peter S. White1,2,5 • 1Center for Biomedical Informatics, The Children's Hospital Of Philadelphia, Philadelphia, PA; 2 Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA; 3 Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA; 4 Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA; 5Department of Pediatrics, University of Pennsylvania, Philadelphia, PA

  2. Disclosures • The Children’s Hospital of Philadelphia is selling Proband in the Apple App store. • I am listed as an inventor on the invention disclosure filed to the The Children’s Hospital of Philadelphia and may receive someproceeds from sales.

  3. Phenotype Capture • One constant requirementacross different disease areas: • A detailed family history

  4. Hand Drawn Pedigrees

  5. Just more modern isn’t good enough • Paper is: • Fast • Unconstrained • Collaborative

  6. But there is room for improvement... • Fixing mistakes • Security • Alignment/Clarify • Structureddata

  7. If only there was a tablet app for Pedigrees…

  8. Proband • Apple, the Apple logo, iPad, and iPhone are trademarks of Apple Inc., registered in the U.S. and other countries. App Store is a service mark of Apple Inc.

  9. Gestures for optimized input

  10. Context aware interface

  11. IntegratedStructured Data

  12. Usability Testing • 1 • 10 Genetic Counselors watched an instructional video • 2 • Each counselor • recreated the same • pedigree • using Proband

  13. System Usability Survey • 3 • Study data were collected and managed using REDCap electronic data capture tools hosted at The Children’s Hospital of Philadelphia.1 REDCap (Research Electronic Data Capture) is a secure, web-based application designed to support data capture for research studies, providing 1) an intuitive interface for validated data entry; 2) audit trails for tracking data manipulation and export procedures; 3) automated export procedures for seamless data downloads to common statistical packages; and 4) procedures for importing data from external sources. • 1Paul A. Harris, Robert Taylor, Robert Thielke, Jonathon Payne, Nathaniel Gonzalez, Jose G. Conde, Research electronic data capture (REDCap) - A metadata-driven methodology and workflow process for providing translational research informatics support, J Biomed Inform. 2009 Apr;42(2):377-81.

  14. SUS Results • SUS Score: 90.00 out of 100 • Average SUS scores range from 681 to 70.142 • Average ability to recover from mistakes • (from 1- hardest, to 5- easiest): 4.4 • 1Bangor A, Kortum P, Miller J. An Empirical Evaluation of the System Usability Scale. International Journal Of Human-Computer Interaction [serial online]. August 2008;24(6):574-594. Available from: Academic Search Premier, Ipswich, MA. Accessed March 17, 2014. • 2System Usability Scale (SUS). Fetched from http://www.usability.gov/how-to-and-tools/methods/system-usability-scale.html

  15. Qualitative Results

  16. Acknowledgements • This work was funded by the NHGRI Clinical Sequencing Exploratory Research (CSER) Program Grant 5U01HG006546-02 • Special thanks to the Genetic Counselors that participated in user testing: • Surabhi Mulchandani • Sara L. Chadwick • Sarah E. Noon • Margaret H. Harr • Holly A. Dubbs • Jennifer Garbarini • Stephanie L. Byers • Livija Medne • Emma C. Bedoukian • Stacy Woyciechowski

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