From phenotype to genotype: issues in navigating the available information resources.
OBJECTIVE
As part of an investigation of connecting health professionals and the lay public to both disease and genomic information, we assessed the availability and nature of the data from the Human Genome Project relating to human genetic diseases.


METHODS
We focused on a set of single gene diseases selected from main topics in MEDLINEplus, the NLM's principal resource focused on consumers. We used publicly available websites to investigate specific questions about the genes and gene products associated with the diseases. We also investigated questions of knowledge and data representation for the information resources and navigational issues.


RESULTS
Many online resources are available but they are complex and technical. The major challenges encountered when navigating from phenotype to genotype were (1) complexity of the data, (2) dynamic nature of the data, (3) diversity of foci and number of information resources, and (4) lack of use of standard data and knowledge representation methods.


CONCLUSIONS
Three major informatics issues arise from the navigational challenges. First, the official gene names are insufficient for navigation of these web resources. Second, navigational inconsistencies arise from difficulties in determining the number and function of alternate forms of the gene or gene product and maintaining currency with this information. Third, synonymy and polysemy cause much confusion. These are severe obstacles to computational navigation from phenotype to genotype, especially for individuals who are novices in the underlying science. Tools and standards to facilitate this navigation are sorely needed.
Mitchell
J A
JA
Lister Hill National Center for Biomedical Communications, National Library of Medicine, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA. mitchelljo@health.missouri.edu
McCray
A T
AT
Bodenreider
O
O
D030541:Databases, Genetic; D005817:Genetic Counseling; D005838:Genotype; D006297:Health Services Accessibility; D006801:Humans; D016247:Information Storage and Retrieval; D020407:Internet; D010353:Patient Education as Topic; D010641:Phenotype