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Deriving consumer-facing disease concepts for family health histories using multi-source sampling
Nathan C Hulse1, Grant M Wood, Peter J Haug
1Intermountain Healthcare, Salt Lake City, UT, USA. nathan.hulse@gmail.com
Developing better electronic tools for family health history is crucial for understanding disease susceptibility. This study compiled over 500 familial disease concepts and 2500 synonyms to improve patient data entry and resources.
Area of Science:
- Health Informatics
- Genetics
- Public Health
Background:
- Family health history is vital for assessing disease susceptibility.
- Current electronic tools for capturing family health history data are inadequate.
- Patient-facing tools are needed for detailed family health history collection.
Purpose of the Study:
- To compile a comprehensive set of disease concepts for familial diseases.
- To support the development of patient-facing electronic tools for family health history.
- To enhance the accuracy and usability of recorded family health data.
Main Methods:
- Multi-source sampling of familial disease concepts.
- Analysis of enterprise data warehouse family health history patterns.
- Review of consumer personal health records and state health department data.
- Extraction of concepts from healthcare data dictionaries and genetic education materials.
Main Results:
- Compiled over 500 unique disease concepts related to familial diseases.
- Identified more than 2500 synonyms for these disease concepts.
- Developed a robust set of concepts to aid patient data entry.
Conclusions:
- The compiled disease concepts can significantly improve family health history capture.
- Enhanced data quality will benefit both patients and healthcare providers.
- This resource supports better understanding of familial disease susceptibility and provides educational value.
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