1. Proband Incorporating Structured Pedigree Data into Genomic Medicine Through a Pedigree and Family History iPad App Jeffrey M. Miller 1, Michael J. Italia 1, Elizabeth T. Dechene 2, Alisha Wilkens 2, Mindy H. Li 2, Colleen E. Gaynor 1, Nancy B. Spinner 3,4, Ian D. Krantz 5, Jeffrey W. Pennington 1, Peter S. White 1,2,5 1 Center 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; 5 Department 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 some proceeds from sales.

3. Phenotype Capture One constant requirement across 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 Alignment/Clarify Security Structured data

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. Integrated Structured Data

12. Usability Testing 10 Genetic Counselors watched an instructional video Each counselor recreated the same pedigree using Proband 11 22

13. System Usability Survey 33 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 ability to recover from mistakes (from 1- hardest, to 5- easiest): 4.4 Average SUS scores range from 68 1 to 70.14 2 1 Bangor 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. 2 System Usability Scale (SUS). Fetched from http://www.usability.gov/how-to-and-tools/methods/system-usability-scale.htmlhttp://www.usability.gov/how-to-and-tools/methods/system-usability-scale.html

15. Each Counselor … Completed pedigreeAll counselors completed reconstruction of pedigree- 2 with very minor discrepancies, 1 person asked a question about annotations Would use Proband in the clinic 7 counselors stated yes, 1 would use it in certain situations, 1 no due to lack of iPads and 1 no related to clinic workflow Noted features as performing better than paper Auto-align and tidiness, adding siblings and half- siblings, diagnosis key, readability and moving symbols around the pedigree Noted frustration 7 noted no frustration, 2 noted minor points, 1 noted frustration with auto-align 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