TY  - JOUR
T1  - GEnomic sequencing in newborn screening programs
AU  - Greeley SW, Msall ME, Acharya K
Y1  - 2012/05/23
N1  - 10.1001/jama.2012.3635
JO  - JAMA
SP  - 1911
EP  - 1912
VL  - 307
IS  - 20
N2  - 
Neonatal diabetes occurs in nearly 1:100 000 births2 but biochemical screening by glucose levels is hampered by the inaccuracy of blood spot card samples and uncertainty in timing of hyperglycemia, whereas normal ranges for insulin levels are difficult to establish.3 In contrast, progress has been made in clarifying specific highly penetrant variants in more than 20 genes. Because of the difficulty in recognizing the hallmark symptoms of polyuria and polydipsia in a neonate, many of these infants undergo a delay in diagnosis resulting in avoidable morbidity, including diabetic ketoacidosis. Although early treatment with insulin would prevent morbidity, nearly 50% of permanent forms can be treated with oral sulfonylurea therapy in lieu of insulin injections, resulting in significant cost savings.4 Furthermore, it is possible that early treatment with sulfonylureas may ameliorate the neurodevelopmental disability seen in approximately 25% of such cases.5

SN  - 0098-7484
M3  - doi: 10.1001/jama.2012.3635
UR  - http://dx.doi.org/10.1001/jama.2012.3635
ER  -