Naming and counting disorders (conditions) included in newborn screening panels.
The rapid introduction of new technologies for newborn screening is affecting decisions about the disorders (conditions) that are required or offered as an option through public and private newborn screening. An American College of Medical Genetics report to the Health Resources and Services Administration summarized an extensive effort by a group of experts, with diverse expertise within the newborn screening system, to determine a process for selecting a uniform panel of newborn screening disorders. The expert panel did not propose a mechanism for counting or naming conditions. Differences in the nomenclature used to identify disorders have resulted in difficulties in developing a consensus listing and counting scheme for the disorders in the recommended uniform panel. We suggest a system of nomenclature that correlates the screening panel of disorders recommended in the American College of Medical Genetics report with the screening analyte and accepted standardized nomenclature. This nomenclature system is proposed to remove ambiguity and to increase national uniformity in naming and counting screening disorders.
Sweetman
Lawrence
L
Institute of Metabolic Disease, Baylor University Medical Center, Dallas, Texas, USA. larrys@baylorhealth.edu
Millington
David S
DS
Therrell
Bradford L
BL
Hannon
W Harry
WH
Popovich
Bradley
B
Watson
Michael S
MS
Mann
Marie Y
MY
Lloyd-Puryear
Michele A
MA
van Dyck
Peter C
PC
D032921:Consensus; D030342:Genetic Diseases, Inborn / Q000145:classification* / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000145:classification* / Q000175:diagnosis*; D013058:Mass Spectrometry; D015997:Neonatal Screening / Q000592:standards*; D009626:Terminology as Topic; D014481:United States