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Letters |

Genomic Sequencing in Newborn Screening Programs

Siri Atma W. Greeley, MD, PhD; Michael E. Msall, MD; Kruti Acharya, MD
JAMA. 2012;307(20):1911-1912. doi:10.1001/jama.2012.3635.
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To the Editor: Drs Goldenberg and Sharp1 detail the serious and difficult ethical concerns surrounding potential use of genomic technologies in NBS. We agree that these issues must be addressed carefully before proceeding; however, the authors fail to consider conditions for which easy mechanisms for biochemical screening do not currently exist but that could be predicted reliably by gene sequencing.

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


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May 23, 2012
Wybo J. Dondorp, PhD; Guido M. W. R. de Wert, PhD; Martinus F. Niermeijer, MD, PhD
JAMA. 2012;307(20):2146. doi:10.1001/jama.2012.3621.
May 23, 2012
Aaron J. Goldenberg, PhD, MPH; Richard R. Sharp, PhD
JAMA. 2012;307(20):1911-1912. doi:10.1001/jama.2012.3643.
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