Sex and Gender Differences in Diagnostics: Implications for Laboratory Reference Ranges
This Lancet review examines how genetic, epigenetic, and hormonal differences between sexes influence disease epidemiology, pathophysiology, and treatment response across all major organ systems. For clinical laboratories, the review highlights the critical importance of sex-specific reference ranges, the differential performance of diagnostic tests in men versus women, and the risk of diagnostic error when sex-based biological variation is not accounted for in assay interpretation and clinical decision thresholds.
The original study
Sex and gender: modifiers of health, disease, and medicine.
- Authors
- Mauvais-Jarvis F, Bairey Merz N, Barnes PJ, Brinton RD, Carrero JJ, DeMeo DL, et al.
- Journal
- Lancet (London, England)
- Type
- Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S., Review
- PMID
- 32828189
Original abstract
Clinicians can encounter sex and gender disparities in diagnostic and therapeutic responses. These disparities are noted in epidemiology, pathophysiology, clinical manifestations, disease progression, and response to treatment. This Review discusses the fundamental influences of sex and gender as modifiers of the major causes of death and morbidity. We articulate how the genetic, epigenetic, and hormonal influences of biological sex influence physiology and disease, and how the social constructs of gender affect the behaviour of the community, clinicians, and patients in the health-care system and interact with pathobiology. We aim to guide clinicians and researchers to consider sex and gender in their approach to diagnosis, prevention, and treatment of diseases as a necessary and fundamental step towards precision medicine, which will benefit men's and women's health.