Clinical epidemiological quality in molecular genetic research - The need for methodological standards

Context A genetic basis has been identified for many medical conditions and some molecular tests have been commercialized. However, little attention h as been given to the quality of clinical epidemiology in molecular studies. Objective To examine the clinical epidemiological quality of recent publica tions on molecular genetic analysis. Design Cross-sectional study of original research articles published in 199 5, identified by manually searching 4 general clinical journals. Of 83 arti cles identified, 40 were selected for analysis; these 40 discussed molecula r genetic techniques, studied 10 or more patients, and had inferential conc lusions, Main Outcome Measure Compliance of the selected articles with 7 methodologi cal standards for clinical epidemiological science (reproducibility, object ivity, delineation of case group, adequacy of spectrum in case group, delin eation of comparison group, adequacy of comparison group, and quantitative summary of results). Results Among the 40 inferential articles that studied 10 or more patients, only 5 (12.5%) complied with all 7 applicable standards, and 10 (25.0%) co mplied with all but 1 standard, whereas 25 articles (62.5%) failed to compl y with 2 or more standards and 9 (22.5%) failed 4 or 5 standards. Most arti cles did not comply with standards for reproducibility (n = 25, 62.5%) or o bjectivity (n = 27, 67.5%); however, the majority of articles did comply wi th standards for adequacy of case group (n = 35, 87.5%), adequacy of compar ison group (n = 35, 87.5%), and quantitative summary of results (n = 36, 90 %). Conclusions Despite major laboratory advances in molecular genetic analysis , our data suggest that reported applications in clinical journals often ha ve troubling omissions, deficiencies, and lack of attention to the differen t, but necessary, principles of clinical epidemiological science. Without s uitable attention to fundamental methodological standards, the expected ben efits of molecular genetic testing may not be achieved.