From drawings to databases: An examination of family health history

Several initiatives are underway to utilize information technology in the healthcare system because of potential opportunities for improved disease prevention and care delivery. If healthcare providers are to have ready access to family health history information to aid in disease prevention, diagnosis, and care, then capturing this information in electronic medical records (EMRs) is essential. Standard pedigree symbols have been established, but standards for recording family health history information vary. We hosted three full-day meetings to assess information recorded on clinical pedigrees and the purpose of documenting this information. Participants included public health professionals, genetic counselors, information technology specialists, consumers, primary care providers, software vendors, and HIPAA compliance and legal experts. We offer recommendations on collection and display of family health history information for clinical use, including a set of core elements that are necessary for interpretation, orientation, risk assessment, validation, accountability, and education. Additionally, recommendations address preferred system capabilities. For example, an electronic system should capture information on enough biological relatives to detect disease patterns and should be able to handle complex family structures. The system should allow for visual display of information with the capability for reorientation and filtered viewing of conditions. Health information technology that builds these components into data management systems and tailors data entry and display to the needs of the user may be of benefit to both genetic providers and non-geneticists.