Adolescent idiopathic scoliosis (AIS) is a lateral and rotational deformity of the spine that afflicts roughly 2.5% of the population across most cultures. Only 10% of those diagnosed with AIS will actually need treatment, and few will require surgical management of their curves. Since no cause to date has been pinpointed, the vast majority of resources for treating AIS is based on the premise of following all patients closely until skeletal maturity. This means using periodic x-rays and office visits—usually at intervals of 4 to 6 months—to ensure that aggressive curves don’t get missed. The treatment regimen to this day has been to work reactively rather than proactively. This approach subjects patients to numerous x-rays, which can be deleterious and may increase the incidence of breast cancer over the long term.
A newer, saliva-based genetic test called ScoliScore (Transgenomic, Inc.) may change the way we manage scoliosis patients. Based on the discovery of 53 genetic markers that have been linked to progressive scoliosis, this test compares the patient’s DNA against these markers. A score between 1 and 200 is generated. Those scoring 50 or below—roughly three-fourths of patients who are screened—will have less than a 1% chance of developing a curve that will require surgical management. Those who score 180 to 200—only about 1% of those who are screened—are at high risk for developing a curve that would require surgery. Patients with test scores falling between 50 and 180 are at intermediate risk of developing an aggressive curve.
Shifting Focus of Care for Adolescent Idiopathic Scoliosis
The true benefit of having an accurate and reliable saliva-based genetic test for AIS is that it enables us to focus healthcare resources on the subset of patients who really require it. This has the potential to help us make earlier decisions on treatment, eliminate repetitive office visits and exposure to radiation, and provide opportunities to apply early intervention techniques that are being investigated today. There are also socioeconomic benefits to patients and their families. Fewer office visits and x-rays can translate into fewer missed days of school and work. It can also reduce patient costs associated with appointments, radiographs, and travel expenses in addition to decreasing overall anxiety for families.
An Evolving Scoliosis Treatment
While the saliva-based genetic test is evolving and currently isn’t indicated for every patient with AIS, early clinical studies have been supportive. Although the preferred treatment of AIS is to prevent it, this recent development can at least potentially help us target our efforts on patients with high-risk curves. It may also lessen the impact of AIS on patients who will never require treatment.
For information from the Scoliosis Research Society, go to www.srs.org.
Readings & Resources (click to view)
Roye BD, Wright ML, Williams BA, et al. Does ScoliScore provide more information than traditional clinical estimates of curve progression? Spine. 2012;37:2099-2103.
Carlson B. ScoliScore AIS prognostic test personalizes treatment for children with spinal curve. Biotechnol Healthc. 2011;8:30-31.
Ward K, Ogilvie JW, Singleton MV, Chettier R, Engler G, Nelson LM. Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine. 2010;35:1455-1464.
Ogilvie J. Adolescent idiopathic scoliosis and genetic testing. Curr Opin Pediatr. 2010;22:67-70.
Doody MM, Lonstein JE, Stovall M, Hacker DG, Luckyanov N, Land CE. Breast Cancer mortality after diagnostic radiology: findings from the U.S. Scoliosis Cohort Study. Spine. 2000;25:2052-2063.