Advances in Adolescent Idiopathic Scoliosis

Advances in Adolescent Idiopathic Scoliosis

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...

Clinical Genomics: Moving From Bench to Bedside

More than a decade after the successful mapping of the human genome, clinical genomics is starting to permeate important parts of patient care. Studies show that about 60% of primary care physicians (PCPs) have ordered a genetic test for breast cancer, colon cancer, sickle cell disease, or Huntington disease. Another 75% of PCPs have referred patients for genetic testing. So-called “personalized medicine” routinely guides therapy in HIV disease, and use of targeted anti-cancer drugs is rising. While 98% of physicians in a recent national poll agreed that genetic testing is useful, just 10% reported that they felt adequately informed about using it. Doctors need clarity on integrating genomics into routine practice. A Growing Challenge for Genetic Testing As of 2011, 76 drugs had documented biomarker information that is available to guide prescribing practices. Those biomarkers affected 18 therapeutic areas, from heart disease to depression. Meanwhile, a major update of Current Procedural Terminology billing codes in 2012 is expected to include more than 100 genetic procedures, making these tests easy to order. Unfortunately, less than 3% of published research articles on genomics that were released between 2002 and 2006 included information on translating research into practice. Just 1.8% of cancer genetics grants in 2007 that were issued by the National Cancer Institute went to translational research. Furthermore, just 0.6% of publications on the topic dealt with translational issues. Testing for BRCA1/2 genetic mutations illustrates the dilemma practicing clinicians face. Ashkenazi Jews, for example, are at much higher risk for BRCA1/2 genetic mutations than the general population, with 2.5% of Ashkenazi Jews carrying these genes compared with about 0.02% of the...