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Genetic clues could help prevent osteoporotic fracture

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Genetic profiling can help predict whether a person will break a bone through osteoporosis, according to a new Australian study.

The findings are expected to contribute to clinical decision-making in the future, bringing us one step closer to personalised treatment for bone disease.

Osteoporosis affects over three million people in the UK. Every year, more than 500,000 people receive hospital treatment for fragility fractures as a result of osteoporosis — but it is very difficult to predict who will suffer a fracture.

That´s why a key goal of osteoporosis research is to identify those who have a high risk of breaking a bone, with the ultimate aim of preventing avoidable fractures.

The new research was based on the Dubbo Osteoporosis Epidemiology Study, the world´s largest and longest running population-based study of osteoporosis in men and women.

Previously, the Dubbo Study has enabled the development of the Garvan Fracture Risk Calculator (GFRC), one of two major algorithms worldwide that is used clinically to determine an individual´s risk of osteoporotic fracture. The GFRC uses clinical risk factors (age, sex, history of falls and fractures, and bone density) to assess an individual´s fracture risk.

The latest findings show that genetic profiling further improves the accuracy of the GFRC.

Professor Tuan Nguyen, from the Garvan Institute of Medical Research and University of Technology Sydney, led the new research. He explained: “Our study shows, for the first time, that we can classify an individual´s risk of breaking a bone much more reliably when we take genetic factors into account alongside clinical factors.

“This is a major step towards personalised medicine for osteoporosis.”

According to Prof Nguyen, the findings overturn long-held scepticism in the bone health field about the role of genetics in the clinical management of osteoporosis.

“We have known for many years that a number of genetic variants are linked to low bone density and to fracture — but until now, we have struggled to transform that knowledge into clinical benefit to patients,” Prof Nguyen said.

“It has previously been difficult to see how genetic variation might become clinically important, because the effect of each individual genetic variant on fracture risk is very subtle.

“To overcome this issue, we looked at 62 different genetic variants in tandem across over 1,400 individuals in the Dubbo study — and we found that, together, those variants become a powerful predictive tool.

“Once we have validated our findings in other populations, we will be looking to develop a cost-effective gene profiling test that will be available for clinicians to use. The test will determine a ‘genetic risk score´ on the basis of a blood sample, which contains ample DNA for profiling.”