Orthogenomics: an update

Abstract

The study of genomics in orthopaedics has considerably lagged behind such study in other medical disciplines. Seminal work from other lines of medical research demonstrates the importance of genomic information in the evolution of personalized medicine. Common techniques for studying genome-phenotype associations include single nucleotide polymorphism, haplotype, and quantitative trait loci analysis. The few genome-based studies in major orthopaedic and related conditions have focused on osteoporosis, osteoarthritis, neuropathy and nerve compression, spinal deformity, trauma and inflammatory response, and pain and analgesia. The nascent field of orthogenomics, newly defined here as the application of genomic study to orthopaedic practice, has produced findings that could affect the practice of orthopaedics. However, more work is required, and the findings must be distilled and harnessed into applicable and achievable steps to improve clinical orthopaedic practice.