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Special Communication
July 2017

Guidance for Modifying the Definition of Diseases: A Checklist

Author Affiliations
  • 1Centre for Research in Evidence Based Practice, Bond University, Gold Coast, Australia
  • 2Department of Medicine, Innlandet Hospital Trust, Gjøvik, Norway
  • 3Department of Clinical Policy, American College of Physicians, Philadelphia, Pennsylvania
  • 4Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Canada
  • 5Department of Medicine, McMaster University, Hamilton, Canada
  • 6NSW Health Pathology SEALS Department of Clinical Chemistry and Endocrinology, Prince of Wales Hospital, Sydney, Australia
  • 7Duke University, Durham, North Carolina
  • 8Department of Family and Community Medicine, King Saud University, Riyadh, Saudi Arabia
  • 9Department of Clinical Epidemiology and Biostatistics, University of Amsterdam, Amsterdam, the Netherlands
  • 10Brian Wilson Chancellery, University of Queensland, St Lucia, Australia
  • 11Association of the Scientific Medical Societies´ Institute of Medical Knowledge-Management (AWMF-IMWi), Philipps-University, Marburg, Germany
  • 12Department of Strategy, Policy, and Information, World Health Organisation, Geneva, Switzerland
JAMA Intern Med. 2017;177(7):1020-1025. doi:10.1001/jamainternmed.2017.1302

Importance  No guidelines exist currently for guideline panels and others considering changes to disease definitions. Panels frequently widen disease definitions, increasing the proportion of the population labeled as unwell and potentially causing harm to patients. We set out to develop a checklist of issues, with guidance, for panels to consider prior to modifying a disease definition.

Observations  We assembled a multidisciplinary, multicontinent working group of 13 members, including members from the Guidelines International Network, Grading of Recommendations Assessment, Development and Evaluation working group, and the World Health Organisation. We used a 5-step process to develop the checklist: (1) a literature review of issues, (2) a draft outline document, (3) a Delphi process of feedback on the list of issues, (4) a 1-day face-to-face meeting, and (5) further refinement of the checklist. The literature review identified 12 potential issues. From these, the group developed an 8-item checklist that consisted of definition changes, number of people affected, trigger, prognostic ability, disease definition precision and accuracy, potential benefits, potential harms, and the balance between potential harms and benefits. The checklist is accompanied by an explanation of each item and the types of evidence to assess each one. We used a panel’s recent consideration of a proposed change in the definition of gestational diabetes mellitus (GDM) to illustrate use of the checklist.

Conclusions and Relevance  We propose that the checklist be piloted and validated by groups developing new guidelines. We anticipate that the use of the checklist will be a first step to guidance and better documentation of definition changes prior to introducing modified disease definitions.

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