Proband - Pedigrees Made Simple

Name: Proband - Pedigrees Made Simple
Author: Children's Hospital of Philadelphia

Children's Hospital of Philadelphia

EVALUATED

Assessed for usability and quality

For:Researchers & AcademicsClinicians & Healthcare Professionals

Free

Download on the App Store

App Summary

Proband is a mobile application for genetic counselors, geneticists, and researchers to efficiently create and annotate complex family pedigrees directly on an iPad during patient interviews. An evaluation study found Proband performed comparably to traditional paper methods in terms of accuracy, speed, and patient rapport (N=50), while a usability assessment with genetic counselors (N=10) yielded a high usability score of 90/100. The authors conclude that these positive results encourage the integration of such digital tools into clinical workflows and electronic health records.

App Screenshots

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Detailed Description

Functionality & Mechanism

Developed by The Children's Hospital of Philadelphia, Proband is a clinical tool for constructing family pedigrees on an iPad. The system leverages a gesture-based interface for direct data capture during patient interviews. It incorporates standard nomenclature and clinical vocabularies, including ICD-10-CM and the Human Phenotype Ontology. The interface supports dynamic editing and generates structured data exportable as PDF or PNG files, facilitating integration into electronic health records and clinical decision support algorithms.

Evidence & Research Context

An evaluation study involving 10 genetic counselors reported a high System Usability Score of 90/100 for the application.
In the same study, a majority of counselors (7/10) indicated they would utilize the application in their clinical practice.
A comparative assessment (N=50 participants) found no statistical difference between the digital and paper methods for accuracy, speed, or patient-provider rapport.

Intended Use & Scope

Proband is intended for genetic counselors, geneticists, and researchers for point-of-interview pedigree construction. Its primary utility is the digital documentation of complex family histories. The application does not perform automated risk assessment or provide diagnostic guidance; all clinical interpretation requires independent professional judgment and expertise.

Studies & Publications

1 publication

Peer-reviewed research associated with this app.

Usability Study

Utilization of the Tablet Application Proband in Pedigree Construction and Assessment

McCarty et al. (2018) · Journal of Genetic Counseling

Genetic counselors rated the app highly usable (90/100) and would use it in clinical practice.

Many medical institutions have converted to a digital model for record keeping due to the Health Information Technology for Economic and Clinical Health Act. This Act provides incentives to health care systems to accelerate and encourage the adoption of electronic health record (EHR) systems. The pedigree as a tool in medicine provides an efficient method to assess and represent an individual's health and family health risks that may otherwise not be apparent in the medical record in a clearly identifiable way (Schuette, J. L., & Bennett 2009). Many clinicians continue to construct pedigrees using pen and paper method despite findings of improved identification of at risk patients with similar electronic intake tools (Arar et al. in Personalized Medicine 2011 8:523–32). The goal of this study was to explore the patient and practitioner experience with electronic pedigree programs using Proband, an application developed at The Children's Hospital of Philadelphia for genetic counselors to construct pedigrees during genetic counseling sessions directly on iPads. The first part of this study looked at the patient experience and assessed time to take the pedigree and the impact of using an electronic pedigree tool on the relationship between participant and genetic counselor. This involved 50 participants and was compared with the traditional paper method of taking a pedigree. There was no statistical significance found between the two different mediums in accuracy, speed, and rapport with provider. The second part of the study assessed the usability of Proband by ten genetic counselors. Overall, the application received a system usability score of 90/100 with a majority (7/10) of counselors agreeing that they would use this application in their clinic. The positive outcome of this study encourages future work to assess the impact and usability of programs on a larger scale as they continue to integrate into current electronic health records.