A research team led by Jianguang JI, Professor in the Faculty of Health Sciences (FHS) at the University of Macau (UM), has made significant progress in the study of personalised osteoporosis screening. The study incorporates a polygenic risk score (PRS) into the screening decision-making system for the first time, enabling risk stratification and precision prevention based on individual genetic backgrounds. This strategy overcomes the limitations of existing guidelines, which primarily rely on fixed age thresholds and overlook genetic differences. It shifts the focus from a ‘one-size-fits-all’ approach to a ‘personalised’ model of care. It not only enhances the early identification of fracture risk in middle-aged and elderly women but also reduces unnecessary screening and wastage of resources. The research findings have been published in the renowned journal BMC Medicine.
Against the backdrop of an ageing global population, osteoporosis and related fractures have become a major public health concern. Statistics show that approximately 8.9 million osteoporotic fractures occur worldwide each year, and hip fractures carry a mortality rate of 20–24% within one year of injury. Large-scale Genome-Wide Association Studies (GWAS) indicate that genetic factors play a crucial role in the onset of osteoporosis, and hundreds of genetic loci associated with bone mineral density and fracture risk have already been identified. However, current screening protocols still predominantly follow a ‘one-size-fits-all’ approach, typically recommending screening for all women over 65. This approach may result in ‘delayed diagnoses’ for individuals with high genetic risk and ‘over-screening’ for those with low risk, leading to the inefficient allocation of medical resources. Therefore, achieving individualised and precise osteoporosis screening has become an urgent issue in public health.
A polygenic risk score (PRS) quantifies an individual’s genetic susceptibility by aggregating the small effects of numerous common genetic variants, and has shown translational potential in various disease areas. This study, based on data obtained from the UK Biobank, used PRS to quantify individual genetic risk, transforming a uniform screening age into personalised medical decisions. The results showed that, compared to women with average genetic risk, those with high genetic risk developed osteoporosis on average five years earlier. This suggests that screening should begin at the age of 60. Conversely, women with low genetic risk could postpone screening by approximately four years, to age 69. Earlier screening of high-risk individuals will help identify more patients in the pre-clinical stage, thereby reducing the risk of subsequent fractures, as well as the associated disability, mortality, and economic burden. Delaying screening appropriately for low-risk individuals will improve the overall efficiency and cost-effectiveness of screening programmes. Early screening of high-genetic-risk women could prevent 41% of total fractures, and incorporating genetic risk information into screening programmes could significantly improve their efficiency. The results demonstrated that the number needed to screen (NNS) to prevent one fracture was 22 in the high-risk group, making it more efficient than an NNS of 28 in the overall population.
This study is the first to systematically integrate genetic information into decisions about the timing of early osteoporosis screening, and transform screening thresholds based on population-average risk into personalised interventions. It provides robust evidence to support shifting osteoporosis prevention from universal screening to precise risk stratification, facilitating early intervention and proactive health management. By focusing on high-risk individuals and adjusting the screening age for low-risk populations, it is hoped to optimise the allocation of healthcare resources and alleviate the disease burden associated with an ageing society more effectively, demonstrating significant academic and practical implications.
The study’s corresponding author is Prof Ji, with his PhD student Dongxue WANG as first author, and Wen SUN, a research assistant in UM FHS, as co-first author. Xiaodan LI, Deputy Director of the Department of Nursing at Peking University People’s Hospital, and Xiao WANG, Associate Professor in the Center for Primary Health Care Research at Lund University, are co-corresponding authors. Di LIU, a Postdoctoral fellow in UM FHS, and Huan YI, Associate Professor at Affiliated Hospital of Fujian Medical University, also made important contributions to the research. The project was supported by the University of Macau (File Nos.: UMDF-TISF/2025/001/FHS and FHS-CC-046-001-2024). The full version of the research article is available at: https://doi.org/10.1186/s12916-025-04601-1.
Jianguang JI
Dongxue WANG