Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

Abstract

BackgroundInherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear. InNerMeD-I-Network is the first European network on iNMDs that was created with the aim of sharing and increasing validated information about diagnosis and management of neurometabolic disorders. One of the goals of the project was to determine the number and the methodological quality of existing guidelines and recommendations for iNMDs.MethodsWe performed a systematic search on PubMed, the National Guideline Clearinghouse (NGC), the Guidelines International Network (G-I-N), the Scottish Intercollegiate Guideline Network (SIGN) and the National Institute for Health and Care Excellence (NICE) to identify all the published guidelines and recommendations for iNMDs from January 2000 to June 2015. The methodological quality of the selected documents was determined using the AGREE II instrument, an appraisal tool composed of 6 domains covering 23 key items.ResultsA total of 55 records met the inclusion criteria, 11 % were about groups of disorders, whereas the majority encompassed only one disorder. Lysosomal disorders, and in particular Fabry, Gaucher disease and mucopolysaccharidoses where the most studied. The overall methodological quality of the recommendation was acceptable and increased over time, with 25 % of the identified guidelines strongly recommended by the appraisers, 64 % recommended, and 11 % not recommended. However, heterogeneity in the obtained scores for each domain was observed among documents covering different groups of disorders and some domains like 'stakeholder involvement' and 'applicability' were generally scarcely addressed.ConclusionsGreater efforts should be devoted to improve the methodological quality of guidelines and recommendations for iNMDs and AGREE II instrument seems advisable for new guideline development. The elaboration of new guidelines encompassing still uncovered disorders is badly needed.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-015-0376-9) contains supplementary material, which is available to authorized users.

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

“…Based on the AGREE II criteria, some insufficiencies were frequently noticed, especially regarding rigour of development and editorial independence. This observation has been described by others for some RDs [31] but is not specific to this field, as also reported for more common diseases [2, 32, 33]. Variable quality was also noticed depending on the publication medium.…”

Analyzing the clinical actionability of germline pharmacogenomic findings in oncology

“…Furthermore, many past studies have classified guidelines as "recommended" for implementation if the overall quality score exceeded 50%. 50,51 All of our proposed guidelines exceeded this threshold. Finally, both the domain and overall quality Original Article scores of our CDS recommendations were very similar to, and in many cases higher than, AGREE II scores for guidelines currently implemented in clinical practice.…”

“…Finally, both the domain and overall quality Original Article scores of our CDS recommendations were very similar to, and in many cases higher than, AGREE II scores for guidelines currently implemented in clinical practice. [51][52][53][54] Our study had limitations. Because we used the criterion of only evaluating studies published in journals with an IF 5, it is possible that we missed other potentially actionable germline associations, although this would seem unlikely.…”

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

“…Unfortunately, the original version of this article [1] contained an error. The author list displayed the following author names incorrectly.…”