Osteoporosis, bone & mineral

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density

Osteoporos IntPublished Diagnostic accuracy study

Authors' conclusion

Our results suggest adding a GS to a CRF model does not improve prediction.

Study context

Population
Participants with bone mineral density (BMD) measured by CT in three thoracic vertebrae; very low BMD <80 mg/cm³
Participants
1,421 participants
Comparison
Clinical risk factor (CRF) model plus genomic score vs CRF model for identifying very low BMD
Outcome
Discrimination (AUC) of participants with very low BMD (<80 mg/cm³)
Methodological detailsreclassification analyses
  • Reclassification analyses

Performance

As reported in the abstract

Discrimination of very low BMD
  • Adding the genomic score (GS) to the CRF model gave AUCs not statistically significant from the CRF model
  • No improved reclassification or risk discrimination with CRF-GS vs CRF model at probability cutoffs of 6, 12 and 24%

Further findings

AUC of the GS alone, total cohort

AUC for the GS (95% CI 0.52-0.61), corresponding to AUCs for osteoporosis risk factors
0.57

AUC of the GS alone, participants without indication for BMD testing (subgroup)

AUC for the GS (95% CI 0.52-0.69), above or equal to AUCs for osteoporosis risk factors
0.60

Original publication

A genome-wide genomic score added to standard recommended stratification tools does not improve the identification of patients with very low bone mineral density. Osteoporos Int. Published 26 July 2023. doi:10.1007/s00198-023-06857-w

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