JBJS Reviews Editor’s Choice–Genomics in Reconstructive Orthopaedic Surgery

In current clinical practice, most patients who undergo total joint replacement surgery receive similar preoperative, intraoperative, and postoperative management. However, despite similar care, there is wide variability in terms of outcomes and satisfaction. This variability may be due to a lack of understanding of the genetic basis of degenerative joint disease.

Genomics, the scientific study of genes and their interrelationships with each other and the environment, has gained increased attention in the most recent decade. With the completion of the Human Genome Project in 2003, genomic research has surged, ushering in new genetic technologies and opportunities in health care. Indeed, genetic tests have been developed to identify mutations for complex diseases such as breast, colon, and ovarian cancer. These examples are but a few of the ways in which genomics can impact human disease and its prevention.

The term personalized medicine has been coined by clinicians and researchers to capture the concept that a patient’s genetic profile will determine appropriate therapy. By understanding the importance of genetics and the environment in shaping clinical outcomes, the future of medicine has the potential to provide more individualized care.

In orthopaedics, the application of genomics has centered on osteoarthritis, osteoporosis, rheumatoid arthritis, and oncology. In adult patients who undergo joint replacement surgery, the use of biomarkers and genetic testing may aid in preventing postoperative complications.

As noted above, in adult reconstructive surgery, there is a high degree of variability in patient outcomes (including complications and overall satisfaction). The key to understanding the cause of such varied outcomes may well lie in our understanding of the genetic basis of degenerative joint diseases and the genetic response to treatment. A number of conditions that occur in patients undergoing adult reconstructive orthopaedic surgery may be modifiable through the use of genomics and our understanding of them. Examples include infection, thromboembolism, heterotopic ossification, arthrofibrosis, hyperalgesia, osteolysis, and osteonecrosis. In the April 2016 issue of JBJS Reviews, Elbuluk et al. discuss the future of “orthogenomic” research, the goal of which is to establish patient-specific strategies for optimizing results and expectations after adult reconstructive surgery.

Although the application of genomics in orthopaedic practice remains limited, the framework to identify practical interventions has begun to be constructed. The ability to obtain genetic information may allow joint arthroplasty surgeons to preoperatively stratify patients according to risk on the basis of their genetic profile and establish patient-specific strategies that will optimize results after surgery. Large population-based studies will need to be conducted in order to allow orthopaedic researchers to build the necessary database to identify these genes and their biomarkers. The advent of 21st-century personalized care of orthopaedic patients undergoing total joint replacement surgery is beginning to be realized, and the future looks promising.

Thomas Einhorn, Editor

JBJS Reviews

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