GeneFacts is a point-of-care, decision-support system for non-geneticists. The goal of the project is to provide information at the point of care, where time is at a premium. Fact sheets will be concise, accurate, and targeted to non-geneticists.
GeneFacts is not an encyclopedic reference in human genetics and genetic medicine. Those resources already exist, but are less effective for clinicians who are not geneticists. For deeper content, GeneFacts will link to commonly used online resources, such as OMIM and GeneReviews.
We expect a broad range of primary-care providers (PCPs), specialists, and allied health professionals to use GeneFacts because it will be unique in providing free, accurate, concise, and clinically relevant genetics content electronically at the point-of-care.
Fact Sheet Topics
Topics will include single gene and cytogenetic disorders, common/complex disease and pharmacogenetics. Clinically relevant abstracts of EGAPP reports and other complex genetic information will also be produced.
The first release of fact sheets will include Mendelian disorders, common diseases, and pharmacogenomic associations, including:
- Achondroplasia,
- Colorectal cancer
- Down syndrome,
- Hemochromatosis,
- Plavix (clopidogrel),
- Thrombophilia, and
- Spina bifida.
Process
Each fact sheet is co-authored by a non-geneticist clinician and a clinical geneticist. The geneticist is responsible for ensuring accuracy of the information, and the non-geneticist ensures that the material included is relevant to the intended audience.
An experienced and knowledgeable group of co-editors supervise GeneFacts, and a diverse, 10-person editorial board representing both geneticist and non-geneticist clinicians review each fact sheet.
Funding
GeneFacts is supported by funding from HRSA and the Office of Rare Diseases of the National Institutes of Health.