Mobile-Based and Self-Service Tool (iPed) to Collect, Manage, and Visualize Pedigree Data: Development Study

Chen Sun; Jing Xu; Junxian Tao; Yu Dong; Haiyan Chen; Zhe Jia; Yingnan Ma; Mingming Zhang; Siyu Wei; Guoping Tang; Hongchao Lyu; Yongshuai Jiang

doi:10.2196/36914

Mobile-Based and Self-Service Tool (iPed) to Collect, Manage, and Visualize Pedigree Data: Development Study

JMIR Form Res. 2022 Jun 23;6(6):e36914. doi: 10.2196/36914.

Authors

Chen Sun^#¹, Jing Xu^#¹, Junxian Tao^#¹, Yu Dong¹, Haiyan Chen¹, Zhe Jia¹, Yingnan Ma¹, Mingming Zhang¹, Siyu Wei¹, Guoping Tang², Hongchao Lyu¹, Yongshuai Jiang¹

Affiliations

¹ College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, China.
² The Fourth Affiliated Hospital, Zhejiang University School of Medicine, Zhejiang, China.

^# Contributed equally.

PMID: 35737451
PMCID: PMC9264120
DOI: 10.2196/36914

Abstract

Background: Pedigree data (family history) are indispensable for genetics studies and the assessment of individuals' disease susceptibility. With the popularity of genetics testing, the collection of pedigree data is becoming more common. However, it can be time-consuming, laborious, and tedious for clinicians to investigate all pedigree data for each patient. A self-service robot could inquire about patients' family history in place of professional clinicians or genetic counselors.

Objective: The aim of this study was to develop a mobile-based and self-service tool to collect and visualize pedigree data, not only for professionals but also for those who know little about genetics.

Methods: There are 4 main aspects in the iPed construction, including interface building, data processing, data storage, and data visualization. The user interface was built using HTML, JavaScript libraries, and Cascading Style Sheets (version 3; Daniel Eden). Processing of the submitted data is carried out by PHP programming language. MySQL is used to document and manage the pedigree data. PHP calls the R script to accomplish the visualization.

Results: iPed is freely available to all users through the iPed website. No software is required to be installed, no pedigree files need to be prepared, and no knowledge of genetics or programs is required. The users can easily complete their pedigree data collection and visualization on their own and through a dialogue with iPed. Meanwhile, iPed provides a database that stores all users' information. Therefore, when the users need to construct new pedigree trees for other genetic traits or modify the pedigree trees that have already been created, unnecessary duplication of operations can be avoided.

Conclusions: iPed is a mobile-based and self-service tool that could be used by both professionals and nonprofessionals at any time and from any place. It reduces the amount of time required to collect, manage, and visualize pedigree data.

Keywords: mobile-based; pedigree; pedigree data; self-service; visualization.

©Chen Sun, Jing Xu, Junxian Tao, Yu Dong, Haiyan Chen, Zhe Jia, Yingnan Ma, Mingming Zhang, Siyu Wei, Guoping Tang, Hongchao Lyu, Yongshuai Jiang. Originally published in JMIR Formative Research (https://formative.jmir.org), 23.06.2022.