Methodology for production of best practice guidelines for rare diseases

Thomas Sejersen, Cinzia Del Giovane, Graziella Filippini, Carlo Giacomo Leo, Joerg J Meerpohl, Pierpaolo Mincarone, Silvia Minozzi, Sabina Saverio, Schünemann Holger, Juliette Senecat, Domenica Taruscio, RARE-Bestpractices consortium

Abstract

Best practice guidelines for clinical management have increasingly become useful tools for patients and health care professionals in several disease areas. This is the case not least in the area of rare diseases, where scarcity of expertise is a well known and far too common cause of late or wrong diagnosis and care. However, in order for clinical guidelines to be useful and trustworthy, they must adhere to principles of how they are developed and updated, including a basis of best available evidence. Because of the potential great importance of well made best practice guidelines for rare diseases, we here describe work within the RARE-bestpractices EU project aim to address this topic by i) delineate the current state of existing best practice guidelines, as well as processes and tools for developing, updating, and adapting guidelines in the field of rare diseases, ii) define and agree on methodological quality standards for best practice guidelines on rare diseases, iii) develop pilot best practice guidelines for a specific rare condition, implementing the agreed methodological quality standards and iv) to develop a graphical representation of the sequence of activities in best practice guidelines, which are useful for helping in understanding key steps, for allowing a faster development of information systems supporting the enactment of the modeled process, and for monitoring the effectiveness, efficiency and equity of the implemented guidelines.


Keywords

rare diseases, care standards, clinical practice guideline, methodology, evidence-based medicine, GRADE, quality-of-care, process-oriented Health Information Systems

References

Burgers J GR, Eccles M. Clinical guidelines as a tool for implementing change in patient care. In: Grol R WM, Eccles M., editor. Improving patient care: the implementation of change inclinical practice Edinburgh, Scotland: Elsevier; 2005. p. 71-92.

EURORDIS. The Voice of 12 000 Patients, Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. EURORDIS, 2009.

Shaneyfelt TM, Centor RM. Reassessment of Clinical Practice Guidelines Go Gently Into That Good Night. JAMA-Journal of the American Medical Association. 2009;301(8):868-9.

Alonso-Coello P, Irfan A, Sola I, Gich I, Delgado-Noguera M, Rigau D, et al. The quality of clinical practice guidelines over the last two decades: a systematic review of guideline appraisal studies. Quality & Safety in Health Care. 2010;19(6).

Medicine IIo. Clinical Practice Guidelines We Can Trust. Washington, DC: 2011.

Sniderman AD, Furberg CD. Why Guideline-Making Requires Reform. JAMA-Journal of the American Medical Association. 2009;301(4):429-31.

Burgers JS, Grol R, Klazinga NS, Makela M, Zaat J, Agree C. Towards evidence-based clinical practice: an international survey of 18 clinical guideline programs. International Journal for Quality in Health Care. 2003;15(1):31-45.

Schünemann H, Etxeandia, Ikobaltzeta, et al. Guidelines 2.0: Systematic development of a comprehensive checklist for a trustworthy guideline enterprise. CMAJ. 2014 ;186(3):E123-E142

Guyatt G, Oxman AD, Akl EA, Kunz R, Vist G, Brozek J, et al. GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables. Journal of Clinical Epidemiology. 2011;64(4):383-94.

Balshem H, Helfand M, Schuenemann HJ, Oxman AD, Kunz R, Brozek J, et al. GRADE guidelines: 3. Rating the quality of evidence. Journal of Clinical Epidemiology. 2011;64(4):401-6.

Guyatt GH, Oxman AD, Kunz R, Atkins D, Brozek J, Vist G, et al. GRADE guidelines: 2. Framing the question and deciding on important outcomes. Journal of Clinical Epidemiology. 2011;64(4):395-400.

Guyatt GH, Oxman AD, Santesso N, Helfand M, Vist G, Kunz R, et al. GRADE guidelines: 12. Preparing Summary of Findings tables-binary outcomes. Journal of Clinical Epidemiology. 2013;66(2):158-72.

Guyatt GH, Thorlund K, Oxman AD, Walter SD, Patrick D, Furukawa TA, et al. GRADE guidelines: 13. Preparing Summary of Findings tables and evidence profiles-continuous outcomes. Journal of Clinical Epidemiology. 2013;66(2):173-83.

Andrews JC, Schuenemann HJ, Oxman AD, Pottie K, Meerpohl JJ, Coello PA, et al. GRADE guidelines: 15. Going from evidence to recommendation-determinants of a recommendation's direction and strength. Journal of Clinical Epidemiology. 2013;66(7):726-35.

Andrews J, Guyatt G, Oxman AD, Alderson P, Dahm P, Falck-Ytter Y, et al. GRADE guidelines: 14. Going from evidence to recommendations: the significance and presentation of recommendations. Journal of Clinical Epidemiology. 2013;66(7):719-25.

Fox J, Black E, Chronakis I, Dunlop R, Patkar V, South M, et al. From guidelines to careflows: modelling and supporting complex clinical processes. Studies in health technology and informatics. 2008;139:44-62.

Schuenemann HJ, Woodhead M, Anzueto A, Buist S, MacNee W, Rabe KF, et al. A vision statement on guideline development for respiratory disease: the example of COPD. Lancet. 2009;373(9665):774-9.

Rosenfeld RM, Shiffman RN, Robertson P. Clinical Practice Guideline Development Manual, Third Edition: A Quality-Driven Approach for Translating Evidence into Action. Otolaryngology-Head and Neck Surgery. 2013;148:S1-S55.