As indicated in an October 13, 2016 news release, Australian researchers have a “world’s first.” The scientists have found that genetic profiling can help predict whether an individual will break a bone due to osteoporosis. The findings are part of the Dubbo Osteoporosis Epidemiology Study.
Genetics Predict Osteoporotic Fractures!

Lead study author Professor Tuan Nguyen, Ph.D. is from Garvan Institute of Medical Research and University of Technology in Sydney. Dr. Nguyen told OTW, “We have known for a long time that the susceptibility to fracture is determined by genes. We have also discovered several genes that are associated with low bone mineral density, the most important risk factor for fracture. However, how to translate this knowledge into fracture risk assessment for an individual has not been done. Thus, we set out to create a genetic profiling based on the discovered genes for each individual, and then used the genetic profiling to predict the individual’s risk of fracture in the next 5 to 10 years.
“The risk of fragility fracture can be individualized, and the individualization of risk can be enhanced by a genetic profiling. Knowing an individual’s genetic profiling can help improve the prediction accuracy over and above that of traditional clinical risk factors.
“Fracture is a serious event because it is associated with an increased risk of subsequent fracture and death. At present, most patients (up to 80%) with a fracture are neither identified nor treated. I consider that orthopedic surgeons are in the best position to reduce this burden.
Orthopedic surgeons can and should take a greater role in the identification and treatment of high risk patients. And, this genetic profiling together with our Garvan Fracture Risk Calculator (www.fractureriskcalculator.com) can help surgeons to identify individuals at high risk of fracture for intervention to reduce their risks of subsequent fracture and mortality.
“Little is known that a bone fracture can substantially shorten an individual’s life span. The woman kissed by a sailor in the famous photo, ‘The Kiss’, Greta Friedman, had had a hip fracture prior to her death.
“When I was presenting my finding in the ASBMR [American Society for Bone and Mineral Research] Conference in Atlanta, the audience was very excited about the prospect of personalized risk assessment. One colleague asked me, ‘Does this mean that we can predict an individual’s risk of fracture at the time of birth, ’ and I said , ‘Theoretically, yes.’ And, that is exciting indeed.”

Discussion
This is a fascinating development. In my practice we've seen similar outcomes with the revised protocol. The key differentiator seems to be patient selection criteria. Has anyone else noticed the correlation with BMI thresholds?
Great point. I'd push back slightly on the conclusion, the sample size in the cited study is too small to draw population-level inferences. That said, the directional signal is compelling and worth a larger RCT.
We implemented a similar approach last year. Early results are promising but we're still gathering 12-month follow-up data. Happy to share our protocol if anyone is interested.
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