proband

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