Publish Date: 
Thursday, August 13, 2020 - 12:00

Genetic testing could improve screening for osteoporosis

An international team of scientists has developed a novel genetic measure that could dramatically improve how doctors assess the risk of sustaining a fracture due to osteoporosis or fragility

The team, including TRI-based University of Queensland Diamantina Institute NHMRC Emergency Leadership Fellow, Dr John Kemp, tested whether a risk score they generated – based on a panel of more than 20,000 genes – could be substituted for a measure of bone strength called heel quantitative ultrasound speed of sound (SOS).

The risk score generated by the research team, termed gSOS, was developed using SOS measurements for 341,449 individuals. The team then applied gSOS alongside FRAX tool, which evaluates the fracture risk of patients based on individual models that integrate clinical risk factors as well as bone mineral density, to determine its impact on the need for actual measurements of bone strength, which are usually carried out in hospital by X-ray.

They estimated that the application of gSOS could reduce the number of FRAX tests and bone mineral density-based FRAX tests by 37 per cent and 41 per cent, respectively, while maintaining a high sensitivity and specificity to identify individuals who should be recommended for intervention.

Lead researcher, Dr Brent Richards, a geneticist at the Lady Davis Institute's Centre for Clinical Epidemiology and Professor of Medicine, Human Genetics, and Epidemiology and Biostatistics at McGill University, said: "By generating a single genomic profile, we can identify multiple risk factors for diseases like cancer, cardiovascular disease and osteoporosis.

"Importantly, we could reduce the number of specific tests to which we need to subject our patients if we knew whether they have the genetic markers predisposing them to particular conditions.

"A simple investment in genotyping would give us a more refined understanding of who should be screened, allowing us to concentrate on individuals at higher risk."

Their results were published their results in the journal PLOS Medicine, where they demonstrate how more extensive applications of genomic screening might be used to improve the delivery of healthcare.