proband
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Proband. Incorporating Structured Pedigree Data into Genomic Medicine Through a Pedigree and Family History iPad App. - PowerPoint PPT PresentationTRANSCRIPT
ProbandIncorporating Structured Pedigree
Data into Genomic Medicine Through a Pedigree and Family
History iPad AppJeffrey 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
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.
Phenotype Capture
One constant requirement across different disease areas:
A detailed family history
Hand Drawn Pedigrees
Just more modern isn’t good enough
Paper is:
FastUnconstrained
Collaborative
But there is room for improvement...
Fixing mistakes
Alignment/ClarifySecurity
Structured data
If only there was a tablet app for Pedigrees…
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.
Gestures for optimized input
Context aware interface
Integrated Structured Data
Usability Testing
10 Genetic Counselors watched an instructional video
Each counselorrecreated the same pedigree using Proband
1
2
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.
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 681 to 70.142
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
Each Counselor …
Completed pedigree All 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
AcknowledgementsThis 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 MulchandaniSara L. ChadwickSarah E. NoonMargaret H. HarrHolly A. DubbsJennifer GarbariniStephanie L. ByersLivija MedneEmma C. BedoukianStacy Woyciechowski