Use of OMIM in the Clinic and in Research and Teaching
As a comprehensive account of the state of knowledge of the genetic basis of health and disease, OMIM is intended to have wide usefulness to researchers, clinicians, and students. OMIM’s aid to the clinician comes particularly in the area of differential diagnosis and other aspects of the large number of individually rare Mendelian disorders to which the human is literally heir. Precise diagnosis is the basis for quality care and for accurate genetics counseling and appropriate therapy. It appears that many clinicians and counselors use OMIM as a reference in patient care. Information on prognosis, potential complications, and possibilities for prenatal diagnosis and carrier detection is important to the care of patients, both by specialists in medical genetics and by other health professionals who may rarely encounter these disorders. The diagnostic usefulness of OMIM is enhanced by the Clinical Synopsis section provided with most phenotype entries. Through NCBI, OMIM is linked to other online clinical resources such as the highly useful GeneTests, a directory of >600 laboratories that perform diagnostic testing on >1,300 disorders (November 2006). GeneTests also includes a large number of frequently revised reviews of various genetic disorders, prepared by clinical experts in a standardized synchronic form, as an aid to clinical and laboratory diagnosis.
The usefulness of OMIM extends beyond the clinic. Molecular biologists find OMIM useful for background information on genes and descriptions of disorders in their particular areas of research interest. OMIM lends itself well both to research “mining” and to educational “surfing.” I have always thought that a great deal can be learned (and taught) about human genetics, clinical genetics, and human molecular genetics by means of exercises consisting of questions to which the answers can be found in OMIM. In 1993, I produced a self-instruction guide and workbook for use with OMIM.81 An interactive online workbook might be particularly useful.