Can the genetic perspective on osteoporosis change the methods of diagnosing and treating it?

Evaluating osteoporosis and its risks makes use of a number of strategies, including dual x-ray absorptiometry (DEXA). However, this strategy faces many challenges, leading to a call for new methods and strategies to diagnose and evaluate osteoporosis. There is a real scientific revolution to find appropriate solutions to this issue, which include radiological studies, genetic studies, and bioinformatics applications. In February 2023, Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and the World Health Organization (WHO) became interested in developing new strategies to improve the management of osteoporosis around the globe. Genetic studies are making good progress in terms of treatment and diagnosis of osteoporosis. Since osteoporosis is a multi-gene disease, the issue is very complicated. Several genetic factors may combine with environmental factors or other genetic factors to be a cause of osteoporosis. What we are confident of is that genetic factors is a strong risk factor that should not be neglected at any point in the process from diagnosis, to treatment and prevention.

Finding answers

When looking for answers to the commonly asked questions around the challenges facing the radiological diagnosis  for osteoporosis, genetic studies may help identify why this method is at times ineffective or at times subject to conflicting views of current diagnostic methods. The current radiological diagnosis is called dual x-ray absorptiometry (DEXA), and sometimes has issues around poor therapeutic response. The ethnic effect of gene expression and mutations calls for studies that include all population groups.

We carried out a study to explore options for solutions to the challenges facing the diagnosis and treatment of osteoporosis. The bone mineral density (BMD) of all participants – both pre- and post-menopausal women – was measured using DEXA. Each participant in the study also had a genetic study. The study resulted in a set of important conclusions and recommendations, including[3]:

  • Investigating a promising EMS strategy (Eiman Mohammad Shahrour strategy) for the diagnosis and treatment of osteoporosis. The EMS strategy is consistent with the goals of the new roadmap signed between  Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) and World Health Organization (WHO) in February 2023.
  • It is possible to add the genetic factor to the Fracture Risk Assessment Tool (the application used to diagnose osteoporosis) as an important risk factor for evaluating osteoporosis cases.
  • There may be a genetic background for postmenopausal osteoporosis. The study showed that there could be a genetic link between a genetic bone disease symptoms and post-menopausal osteoporosis. Therefore post-menopausal osteoporosis may be classified as secondary osteoporosis, and the WHO must be contacted in this regard to evaluate this finding.
  • It has been shown that there are specific morphological characteristics such Body Mass Index (BMI) for carriers of post-menopausal osteoporosis and those with clinical signs of a genetic bone disease, as well as specific morphological features for carriers of some mutations related to osteoporosis. This reinforces the idea of morphological genetic science assisting in the final clinical diagnosis.
  • We found an explanation that may explain cases in which decreased BMD appears in the femoral bone region before the lumbar bone. This could be due to the relationship of mutations of some genes to the formation of cortical bone (the bone which makes up the majority of the femoral bone) and the resulting early decrease in mineral density in the femoral bone.
  • There is a clear effect of the genetic factor on the BMD in the lumbar region, which may be competing with the hormonal effect on the BMD in the lumbar region itself.
  • The necessity of genetic study of osteoporosis in all races due to differences in the expression of mutations depending on race and with the aim of accurately identifying the genes proven to cause osteoporosis.

EMS strategy

The EMS strategy supports the bioinformatics in diagnosing and treating osteoporosis through three separate bioinformatics applications. The first is that it organises the results of the various diagnostic tests currently available and the other tests that must be carried out to give a complete picture of the bone. It gives an integrated picture of bone mineral density, precise composition of bone, environmental risk factors, genetic risk factors, clinical history, and organic and inorganic bone formation. The other bioinformatics application focuses on the exact site of effect of the currently available medications and the medications that must be developed in the future according their effect on molecular pathways, the type of bone or components of the bone, and so on. By correlating the results of the previous two applications to a single bioinformatics application is the third application that fits with the global trends to follow personalised medicine and treatment. Perhaps this strategy will be useful for diagnosing, treating, and preventing most diseases of the skeletal system[1].


This study also supported the diagnostic strategy (genetic diagnosis of osteoporosis, clinical diagnosis of osteoporosis, and using the Fracture Risk Assessment Tool) more than the strategy (genetic diagnosis, clinical diagnosis, radiological diagnosis (DEXA, dual x-ray absorptiometry)), but it will need more studies to confirm this conclusion[3].

This study seems to direct attention to the actual interest in the genetic diagnosis of osteoporosis and the need to include it in the strategies used for diagnosis. There may have been a shift in the outlook of current diagnostic methods and this must be corrected in the future.

1. Shahrour, E (2023) A promising strategy for the diagnosis, treatment, and prevention of osteoporosis (EMS strategy). Osteoporos Int
2. Wu Q, Jung J (2023) Genome-wide polygenic risk score for major osteoporotic fractures in postmenopausal women using associated single nucleotide polymorphisms. J Transl Med doi. org/ 10. 1186/ s12967- 023- 03974-2
3. Shahrour, E (2023) Genetic targets may be a promising future for osteoporosis. Pharmacy practice – recent advances in therapeutic approaches for improved health. Publisher:

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