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Background: Biological reference intervals (RIs) are fundamental tools in clinical diagnostics, traditionally derived from geographically and ethnically homogeneous populations, predominantly of Western origin. Such generalized RIs often fail to account for variations arising from genetic, environmental, and lifestyle factors, which can impact clinical decision-making and contribute to health inequities, particularly in countries across Africa, India, and many other Southeast Asian nations. This scoping review investigates ethnicity-based variations in RIs for a range of biomarkers to highlight the importance of population-specific RIs.
Methods: Adhering to the Joanna Briggs Institute (JBI) guidelines, this scoping review examined the literature on ethnicity-based RI variations across multiple biomarkers, including Von Willebrand factor, C-reactive protein, thyroid-stimulating hormone, albumin, creatinine, and more. Studies were identified via searches in MEDLINE (via PubMed), Embase, Scopus, and Web of Science up to December 30, 2024. Eligibility was determined using the Population-Concept-Context (PCC) framework, focusing on observational studies analysing ethnicity-specific differences. Data extraction and charting were performed using CADIMA software, with independent review by two authors to ensure consistency.
Results: Out of 4,514 articles, a total of 15 studies met the inclusion criteria, encompassing multi-ethnic populations. Significant variations in biomarker levels were observed across ethnic groups, highlighting the inadequacy of generalized RIs. Notable differences included variations in lipid profiles, vitamin B12, and anti-Mullerian hormone levels. Regional distribution analysis highlighted gaps in research from underrepresented ethnic populations.
Conclusion: This review emphasizes the critical need for ethnicity-specific RIs to improve diagnostic accuracy and promote equitable healthcare outcomes. Further research should focus on developing robust methodologies for establishing inclusive and representative RIs.
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http://dx.doi.org/10.1016/j.cca.2025.120539 | DOI Listing |
Clin Chim Acta
August 2025
Discovery Research Division, Indian Council of Medical Research, ICMR Headquarters, Ansari Nagar, New Delhi 110029, India. Electronic address:
Background: Biological reference intervals (RIs) are fundamental tools in clinical diagnostics, traditionally derived from geographically and ethnically homogeneous populations, predominantly of Western origin. Such generalized RIs often fail to account for variations arising from genetic, environmental, and lifestyle factors, which can impact clinical decision-making and contribute to health inequities, particularly in countries across Africa, India, and many other Southeast Asian nations. This scoping review investigates ethnicity-based variations in RIs for a range of biomarkers to highlight the importance of population-specific RIs.
View Article and Find Full Text PDFBreast Cancer Res Treat
August 2025
Institute of Human Genetics, University of Jammu, Jammu, Jammu & Kashmir, India.
Background: Breast cancer is one of the most common malignancies worldwide with notable geographic variation in incidence and mortality. Its risk is shaped by both environmental and genetic factors. Among the genetic contributors, ESR1 intronic polymorphisms such as XbaI and PvuII have been associated with breast cancer susceptibility, though results across populations remain inconsistent.
View Article and Find Full Text PDFBMJ Health Care Inform
July 2025
Digital Environment Research Institute, Queen Mary University of London, London, UK
Objectives: To investigate whether machine learning (ML) algorithms can learn racial or ethnic information from the vital signs alone.
Methods: A retrospective cohort study of critically ill patients between 2014 and 2015 from the multicentre eICU-CRD critical care database involving 335 intensive care units in 208 US hospitals, containing 200 859 admissions. We extracted 10 763 critical care admissions of patients aged 18 and over, alive during the first 24 hours after admission, with recorded race or ethnicity as well as at least two measurements of heart rate, oxygen saturation, respiratory rate and blood pressure.
Hepatol Commun
November 2024
Section of Epidemiology and Population Sciences, Department of Medicine, Baylor College of Medicine, Houston, Texas, USA.
Background: Texas has the highest HCC rates in the United States, and the greatest burden is among Hispanics. Racial and ethnic disparities in HCC incidence have multiple underpinning factors. We conducted a mediation analysis to examine the role of neighborhood disadvantage (Area Deprivation Index) as a potential mediator of the association between neighborhood race and ethnicity distribution and neighborhood HCC case counts in Texas.
View Article and Find Full Text PDFJ Intern Med
January 2025
Department of Medicine, Geriatrics Section, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.
Background: After age 85, the U.S. non-Hispanic Black population mortality rate becomes less than that of the White population (called the Black-White mortality crossover).
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