title: Development of a web-based query tool for quality assurance of clinical molecular genetic test results.
abstract: The College of American Pathologists molecular pathology checklist item (MOL.20550) calls for periodic review of molecular genetic statistics, including percentages of normal and abnormal findings and allele frequencies. A web-based query tool application for clinical molecular genetic test results was developed to plot dynamically and display genotype and/or allele frequencies for any time period. This tool is used to produce plots of all high-volume molecular genetic assays (>50 samples per month). A single web page contains pull-down menus, enabling the user to select the type of chart to be generated (genotype or allele frequency), the molecular genetic assays to chart (from one to all), the ending date for data in the chart (month and year), and the duration of the time period to plot (1 to 12 months). The rendered graphical and textual frequency data can then be viewed or printed. This tool can be used by any laboratory and interfaced with a standard laboratory information system. Monthly quality control charts and tables are now generated in minutes compared with the hours it took using manual charting applications. This simplified process enables timely compliance with a College of American Pathologists checklist item.
authors.affiliation: Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690-6130, USA. matthew.j.mcginniss@questdiagnostics.com
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: McGinniss
authors.forename: Rebecca
authors.initials: R
authors.lastname: Chen
authors.forename: Victoria M
authors.initials: VM
authors.lastname: Pratt
authors.forename: Arlene
authors.initials: A
authors.lastname: Buller
authors.forename: Franklin
authors.initials: F
authors.lastname: Quan
authors.forename: Charles M
authors.initials: CM
authors.lastname: Strom
authors.forename: Weimin
authors.initials: W
authors.lastname: Sun
authors.forename: Beryl
authors.initials: B
authors.lastname: Crossley
mesh_terms: D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020407:Internet; D008490:Medical Informatics / Q000379:methods*; D008967:Molecular Biology / Q000706:statistics & numerical data*; D012984:Software; D014584:User-Computer Interface