News Release 

Genetic testing could improve screening for osteoporosis

University of Sheffield

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

A full genome profile can be generated for approximately £35-40 per patient, a cost that is comparable to or lower than the cost of an X-ray to measure bone mineral density

By generating a single genomic profile, researchers can also identify multiple risk factors for diseases like cancer, cardiovascular disease and osteoporosis

Embedding genetic testing into routine clinical practice could improve the efficiency and cut costs of screening for common diseases such as osteoporosis, according to new research.

An international team of scientists, including researchers from the University of Sheffield, 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 new study published in the journal PLOS Medicine demonstrates how more extensive applications of genomic screening might be used to improve the delivery of healthcare.

Researchers tested whether a risk score gathered from information across a panel of over 20,000 genes could be used as a substitute for a measure of bone strength called heel quantitative ultrasound speed of sound (SOS).

The risk score, termed gSOS, was developed using the UK Biobank which provided SOS measurements for 341,449 individuals. The international research team then applied gSOS alongside the Sheffield-developed 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.

The study 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.

A full genome profile can be generated for approximately £35-40 per patient, a cost that is comparable to or lower than the cost of an X-ray to measure bone mineral density.

Eugene McCloskey, Professor in Adult Bone Diseases at the University of Sheffield and Director of the Medical Research Council Versus Arthritis Centre for Integrated Research in Musculoskeletal Ageing, said: "Fractures can have severe consequences, including hospitalisation, prolonged rehabilitation, loss of independence and even death.

"As the population ages, the urgency of improving preventive measures becomes all the more intense. Bone strength, a key component underlying fracture risk, is highly heritable (up to 85 per cent determined by our genes), and is therefore a strong candidate for assessment through genetic screening.

"While the impact of this research is not immediate as it requires each individual's genome to be available for calculation of their gSOS, it is of great importance for the future of medical practice."

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."

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Notes to Editors

For more information or to arrange an interview with Professor Eugene McCloskey please contact: Amy Huxtable, Media Relations Officer, University of Sheffield, 0114 222 9859, 07568116781, a.l.huxtable@sheffield.ac.uk

To view the paper in full please visit: https://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.1003152

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