Proband is a free iPad application designed to enable counselors and clinicians to quickly and efficiently capture a patient’s genetic family history during the clinical encounter. Users create the pedigree using a series of gestures similar to drawing. All data is stored in a structured format, with diagnoses annotations available from ICD-10 and the Human Phenotype Ontology.  Completed pedigrees can be exported to PDF, PNG, or structured XML file.  The Department of Biomedical and Health Informatics at The Children’s Hospital of Philadelphia developed and tested the app with genetic counselors in actual clinical settings.


The iPad’s multi-touch interface enables rapid drawing using simple gestures. Counselor interacts directly with the patient to quickly capture family history.

  • Depicts all family relationships: parents, siblings, twins, half-siblings, donors, and surrogates
  • Encodes phenotypes and diagnoses using standard healthcare vocabularies (ICD-9/10, HPO),
  • Allows free text
  • Intelligent use of gestures and context-aware interface elements make editing efficient and easy, even for complex tasks
  • Supports all standard pedigree symbols
  • Exports to PDF for sharing annotated diagrams and for inclusion in the electronic health record
  • Tracks disease history through families with standard quadrant
  • Fully editable functionality
  • Capture any level of detail, without page size limitations
  • Stores information in a structured format for use by other software, computing systems, and clinical decision support algorithms
  • Crisp, clear resolution of printed pedigree pdf
  • Pedigree search by name
  • Pedigree pdf is now vector based, text can be copied from the pdf
  • Export to png format available
  • Improved alignment functionality
  • Significantly smaller file size of exported pdf
  • Numbering symbols by generation
  • Ability to disable symbol numbering, quadrant key, and footnote sections