Academic Journal
Best practices in demographic data collection for equity, diversity, and inclusion in rare disease research: A systematic review.
| Title: | Best practices in demographic data collection for equity, diversity, and inclusion in rare disease research: A systematic review. |
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| Authors: | Sinan I; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada. Electronic address: 19is14@queensu.ca., Johnston M; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada., Marwaha A; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jul; Vol. 28 (7), pp. 102592. Date of Electronic Publication: 2026 May 01. |
| Publication Type: | Journal Article; Systematic Review |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| MeSH Terms: | Data Collection*/methods , Rare Diseases*/epidemiology , Demography*, Female ; Humans ; Male ; Diversity, Equity, Inclusion ; Ethnicity ; Socioeconomic Factors ; Workforce Diversity ; Ethnic and Racial Minorities |
| Abstract: | Purpose: Rare diseases affect small, dispersed populations and are often studied through multisite designs in which equity-relevant demographic data are essential for inclusive recruitment and accurate interpretation. This study examined how sociodemographic variables are collected and reported in rare disease research and evaluated their alignment with the PROGRESS-Plus framework, which outlines Place of residence, Race/ethnicity/culture/language, Occupation, Gender/sex, Religion, Education, Socioeconomic status, social capital, and additional "Plus" factors, such as age and disability status. Methods: A systematic review of peer-reviewed articles was conducted alongside an environmental scan of demographic instruments from governmental, health-system, academic, and rare disease organizations. Screening and extraction coded variables as reported, indirectly derivable, or not reported and compared them with established standards. Results: Of 647 records identified, 37 met inclusion criteria. Reporting was dominated by age and sex, whereas most other equity-relevant variables, including gender identity, sexual orientation, race/ethnicity, distinctions-based Indigenous identity, socioeconomic position, language, migration, disability/function, religion, occupation, and social capital, were inconsistently captured. Environmental scan instruments were more comprehensive, revealing a capture-to-reporting gap. Conclusion: Demographic reporting in rare disease research is heterogeneous and insufficient for equity-focused analyses. A concise, standards-aligned sociodemographic data set is needed to improve transparency, comparability, and detection of inequities across rare disease populations. (Copyright © 2026 The Authors. Published by Elsevier Inc. All rights reserved.) |
| Competing Interests: | Conflict of Interest The authors declare no conflicts of interest. |
| Contributed Indexing: | Keywords: Demographics; EDI; PROGRESS-Plus; Rare diseases; Reporting standards |
| Entry Date(s): | Date Created: 20260503 Date Completed: 20260717 Latest Revision: 20260720 |
| Update Code: | 20260721 |
| DOI: | 10.1016/j.gim.2026.102592 |
| PMID: | 42070090 |
| Database: | MEDLINE |
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