iGene and Shire allow the user to query the database to quickly find abnormalities and reference these abnormalities in previous patients in order to create a thorough and complete diagnosis for genetic patients. The karyotype result search allows the user to quickly find a rearrangement of interest or a list of anomalies.
These specific abnormalities or observations can be grouped into types and referenced for auditing and reporting or noted for follow up. iGene allows the user to query the database from the main enquiry screen, so that all patients with a specific anomaly can be quickly accessed and their reports viewed, if the user has access to do so. This also allows clinicians and genetic counsellors to have access to more diagnosis and lab results. For example the user can perform a karyotype result search by entering t(1; or p11.2 or (9;22) or ring, etc. and the search will return all karyotype results for this abnormality or rearrangement. FISH nomenclature can also be searched and accessed in the same way.
Shire can also be queried from the inquiry screen in order to list patients with a particular disease. Karyotype results can be accessed from the user section of Shire, allowing the user to find all patients with a particular abnormality or rearrangement or to create a customised karyotype result search of their own. These lists can aid lab directors and consultants in assembling data for research on certain diseases and rare syndromes. They also help to provide clinicians and genetic counsellors with the most information possible to produce a comprehensive and meaningful report.