Article type
Year
Abstract
Background: Rare diseases are those with a prevalence of 1 per 5000 individuals or, within the European Union, fewer than 5 per 10,000 persons. According to Colombian law there should be full access to diagnostic technologies for rare diseases in our country. In order to prioritize them, 11 reviews of diagnostic validity were developed, upon which this paper is based.
Objectives: To describe the findings of methodology for the development of diagnostic validity reviews for rare diseases.
Methods: Eleven assessments of diagnostic utility tests were done in Colombia in 2014 to perform this descriptive study. The most important aspects in the development of reviews for low-prevalence diseases were identified with little evidence available.
Results: 72% of assessed diseases had specific prevalence data for Colombia. The built-in assessments evidence was 9% of systematic literature reviews, 27.2% of cohort studies, 18% of diagnostic test studies and 36.3% of descriptive studies. No evidence was identified to answer the research question in 27% of the 11 assessments done. The quality of the studies was assessed with AMSTAR (A MeaSurement Tool to Assess systematic Reviews; 9%) and QUADAS 2 (Quality Assessment of Diagnostic Accuracy Studies tool; 36%). Due to the study type 45% of the evidence did not have quality assessment. In two of the 11 assessments done combined effect analysis was performed.
Conclusions: Despite the limited evidence for rare diseases, systematic and reproducible evaluations can be done in order to have an input for decision-making in the countries. The prevalence and pathophysiology regarding rare diseases do not allow the performance of studies of high methodological quality, however, the evidence from descriptive studies is quite useful in this context. Given the limitations of the sparse evidence from observational studies and descriptive designs it must be reported with high quality, which means a challenge for the production of systematic literature reviews.
Objectives: To describe the findings of methodology for the development of diagnostic validity reviews for rare diseases.
Methods: Eleven assessments of diagnostic utility tests were done in Colombia in 2014 to perform this descriptive study. The most important aspects in the development of reviews for low-prevalence diseases were identified with little evidence available.
Results: 72% of assessed diseases had specific prevalence data for Colombia. The built-in assessments evidence was 9% of systematic literature reviews, 27.2% of cohort studies, 18% of diagnostic test studies and 36.3% of descriptive studies. No evidence was identified to answer the research question in 27% of the 11 assessments done. The quality of the studies was assessed with AMSTAR (A MeaSurement Tool to Assess systematic Reviews; 9%) and QUADAS 2 (Quality Assessment of Diagnostic Accuracy Studies tool; 36%). Due to the study type 45% of the evidence did not have quality assessment. In two of the 11 assessments done combined effect analysis was performed.
Conclusions: Despite the limited evidence for rare diseases, systematic and reproducible evaluations can be done in order to have an input for decision-making in the countries. The prevalence and pathophysiology regarding rare diseases do not allow the performance of studies of high methodological quality, however, the evidence from descriptive studies is quite useful in this context. Given the limitations of the sparse evidence from observational studies and descriptive designs it must be reported with high quality, which means a challenge for the production of systematic literature reviews.