AbstractDatabases that collect clinical information on patients with particular genetic diseases can be used to investigate the clinical history of a disorder, its genetics, and genotype‐phenotype correlations. A database can also serve as a valuable source of patients for studies of disease pathogenesis, variability, or treatment. We review the strengths and limitations of genetic disease databases in the context of our experience with the National Neurofibromatosis Foundation International Database (NNFFID). Genetic disease databases have been developed by individual investigators, scientific consortia, patient support organizations, and commercial enterprises. Databases vary from simple lists of affected individuals to comprehensive collections of detailed clinical and genetic information. Data may be obtained from people who volunteer to be included, systematic assessments of patients seen at participating medical centers, or population‐based registries. Access to information may be highly restricted or widely available. These variables all affect the possible uses and usefulness of the data for research. Technical aspects of data entry, organization, storage, and retrieval, as
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