Article type
Abstract
"BACKGROUND
One of the most important barriers to the clinical management of rare diseases is the low availability of scientific evidence and the lack of quality. There are gaps in diagnostic, treatment and follow-up strategies, which make the decision-making process difficult for health professionals. The European Reference Networks (ERN) Guidelines programme (DG SANTE/2018/B3/030) aims to address these gaps by the development of Clinical Practice Guidelines (CPGs) and Clinical Decision Support Tools (CDSTs) in the field of rare diseases through health cooperation among European Member States.
OBJECTIVES
The Andalusian Health Technology Assessment Area as part of an European Consortium, performed a methodological approach adapted to the review of scientific evidence on rare diseases to detect gaps and develop high-quality CPGs to improve healthcare for this community.
METHODS
The methodological process for conducting systematic reviews was adapted from a series of handbooks for the prioritization, appraisal, adaptation, development and implementation of CPGs focused on rare diseases. It includes a series of structured steps, counting precise and well-defined PICO questions, comprehensive literature searches, and rigorous screening criteria to ensure the selection of relevant evidence. The screening, data extraction, and quality assessment processes were peer reviewed to reduce risk of bias.
RESULTS
The majority of the retrieved studies were case series or reports with low-quality-evidence. The lack of reported data, small sample size, heterogeneity in patients´ backgrounds, deficiency in clinical procedures, and short or lack of follow-up periods, compromised the quality and reliability of these studies. Finally, the impossibility of performing quantitative analysis results in a narrative synthesis of biases, inconsistency, indirectness, and impressions, that make the recommendation process more complex.
CONCLUSIONS
This study shows the gaps found in the systematic reviews of rare diseases, representing a barrier to the development of CGPs for these conditions. The low methodological quality of the studies causes biases in the decision-making process and in the development of clinical guidelines. It is essential to achieve complete knowledge to equate clinical practice for all patients and contribute to establishing a methodological approach that ensures transparency, reproducibility, and validity of the studies for these rare conditions.
"
One of the most important barriers to the clinical management of rare diseases is the low availability of scientific evidence and the lack of quality. There are gaps in diagnostic, treatment and follow-up strategies, which make the decision-making process difficult for health professionals. The European Reference Networks (ERN) Guidelines programme (DG SANTE/2018/B3/030) aims to address these gaps by the development of Clinical Practice Guidelines (CPGs) and Clinical Decision Support Tools (CDSTs) in the field of rare diseases through health cooperation among European Member States.
OBJECTIVES
The Andalusian Health Technology Assessment Area as part of an European Consortium, performed a methodological approach adapted to the review of scientific evidence on rare diseases to detect gaps and develop high-quality CPGs to improve healthcare for this community.
METHODS
The methodological process for conducting systematic reviews was adapted from a series of handbooks for the prioritization, appraisal, adaptation, development and implementation of CPGs focused on rare diseases. It includes a series of structured steps, counting precise and well-defined PICO questions, comprehensive literature searches, and rigorous screening criteria to ensure the selection of relevant evidence. The screening, data extraction, and quality assessment processes were peer reviewed to reduce risk of bias.
RESULTS
The majority of the retrieved studies were case series or reports with low-quality-evidence. The lack of reported data, small sample size, heterogeneity in patients´ backgrounds, deficiency in clinical procedures, and short or lack of follow-up periods, compromised the quality and reliability of these studies. Finally, the impossibility of performing quantitative analysis results in a narrative synthesis of biases, inconsistency, indirectness, and impressions, that make the recommendation process more complex.
CONCLUSIONS
This study shows the gaps found in the systematic reviews of rare diseases, representing a barrier to the development of CGPs for these conditions. The low methodological quality of the studies causes biases in the decision-making process and in the development of clinical guidelines. It is essential to achieve complete knowledge to equate clinical practice for all patients and contribute to establishing a methodological approach that ensures transparency, reproducibility, and validity of the studies for these rare conditions.
"