Development of a clinico-genetic model for predicting fracture and post-fracture mortality

Project Member(s): Nguyen, T.

Funding or Partner Organisation: Amgen Inc. (Amgen’s Competitive Grant Program in Bone Research 2019)
Amgen Inc. (Amgen’s Competitive Grant Program in Bone Research 2019)

Start year: 2020

Summary: Rationale: Fracture due to osteoporosis is associated with ~1 million deaths annually. Yet, patients and doctors often failed to initiate preventive measures or treatment due to the lack of a reliable, accessible and actionable tool for estimating their risk of both fracture and mortality. Aim: Our overall objective is to create a clinico-genetic model for individualised prediction of fracture risk, and for contextualising the mortality/survival outcome. Methods: The study will make use of the resources of the Dubbo Osteoporosis Epidemiology Study, in which bone mineral density (BMD), fracture and mortality have been ascertained over the past 30 years. We propose to: (1) create an "Osteogenomic Profile" from all genetic variants that are associated with bone mineral density (BMD) or fracture; (2) analyze the association between the Osteogenomic Profile and fracture and post-fracture mortality; (3) incorporate the Osteogenomic Profile into the existing Garvan Fracture Risk Calculator that uses age, BMD, a history of fracture and fall as predictors; and (4) develop and implement a web-based software for the precision prediction of fracture, refracture, survival, and treatment benefit. This project is built on our previous work (eg the Garvan model and genomics) by harnessing the power of genomic discoveries for personalised assessment of fracture risk. Our objective is to produce a predictive tool that translates genomics into clinical practice. The potential is not simply to improve our knowledge of the association between genomics and osteoporosis, but also how best to present these data to patients.

FOR Codes: Clinical sciences, Clinical health

Acknowledgement of Country

UTS acknowledges the Gadigal people of the Eora Nation, the Boorooberongal people of the Dharug Nation, the Bidiagal people and the Gamaygal people upon whose ancestral lands our university stands. We would also like to pay respect to the Elders both past and present, acknowledging them as the traditional custodians of knowledge for these lands.