Human pedigrees are diagrams similar to a family tree that make it easier to visualize genetic relationships within families and to record how diseases may recur across generations. Genetic counselors use pedigree analysis to study the inheritance of genes and apply this knowledge to patient-care decision making.
Families who have children with developmental delay or mental retardation, birth defects, multisystem medical problems, unusual facial features, or failure to thrive may benefit from genetic counseling to get clues to inheritance patterns.
Traditionally, genetic counselors interview parents and hand-draw pedigrees, but they now have a new app to create those diagrams digitally on an iPad® screen with a few finger taps. The Center for Biomedical Informatics (CBMi) at The Children’s Hospital of Philadelphia created the Proband app as an efficient data collection tool that enables genetic counselors, geneticists, and researchers to construct even the most complex family pedigrees simply and flexibly. It is based on standard pedigree nomenclature and symbols, and users can make edits seamlessly as they gather new information.
“We designed this app for ease of use with options appearing as you need them,” said Jeff Miller, lead analyst at the CBMi. “Our goal is to make those features contextually relevant, and not to overwhelm the user.”
The CBMi development team solicited critiques and feedback from clinical genetics specialists at CHOP. Mindy Li, MD, a clinical genetics and metabolism fellow, tested the app and compared it to reviewing traditional hand-drawn pedigrees. One advantage to the app is that she did not have to decipher someone else’s handwriting or idiosyncratic abbreviations. She also enjoyed the convenience of being able to set the iPad on her lap while conducting an interview.
“It’s a better interaction than if I had to turn toward a computer screen and input the information,” Dr. Li said.
The app can capture any level of detail, without the space limitations of paper. And instead of opening up a file cabinet, users can store the pedigrees in a standardized format and export the diagrams to other applications such as electronic medical records.
“As health technology in general is moving toward electronic data, it’s important to have pedigrees easy to read and easy to integrate,” Dr. Li said.
This application is one example of the many ways in which CBMi helps transform clinical care and research at CHOP and across the industry. Miller and other team members presented Proband at the annual meeting of the American College of Medical Genetics and Genomics, March 28 in Nashville. The National Human Genome Research Institute’s Clinical Sequencing Exploratory Research (CSER) Program grant 5U01HG006546-03 funded this work.
Genetic counselors, clinical genetics specialists, and others can download the app from the iTunes App Store. iPad is a trademark of Apple Inc. App Store is a service mark of Apple Inc. For more information, read the press release.