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Medical News & Perspectives
August 1, 2017

Pilot Programs Seek to Integrate Genomic Data Into Practice

JAMA. 2017;318(5):410-412. doi:10.1001/jama.2017.7181

Some patients with diabetes just don’t fit the mold: the thin young kickboxing enthusiast on a low-carb diet whose blood glucose is persistently elevated or the baby not yet 6 months old. Consider, too, the patient who appears to have type 1 or 2 diabetes, but he or she doesn’t respond well to the treatment plan.

Genetic testing may help determine whether these outliers are among the approximately 1% to 2% of patients with diabetes who have monogenic forms of the disease, including maturity-onset diabetes of the young (MODY), neonatal diabetes, and some types of syndromic diabetes. But most never get the necessary testing, said Toni Pollin, PhD, MS, a former genetic counselor and now associate professor of medicine at the University of Maryland School of Medicine.