title: Expanding metabolic screening of newborns: can the health care industry do better than public health?
abstract: In Oklahoma since the early 1990s, all newborns have been screened for four metabolic conditions: phenylketonuria, hypothyroidism, galactosemia and hemoglobinopathies. In 2002, 38 affected babies were diagnosed and one expects they are saved from the complications of late diagnosis such as mental retardation or death from sepsis. With advances in genetics and improved biochemical assays, 86% of states now screen for more disorders than Oklahoma, up to 37 in Mississippi. Six recent patient vignettes illustrate the mortality and morbidity of conditions that are screened for elsewhere but not in Oklahoma. In 2001, the Oklahoma Genetics Advisory Council recommended adding three disorders and the State Health Department forecasts that implementation may be complete in 2007. For now, when a patient asks, "Will my baby be screened for as many metabolic conditions as possible?", two answers represent either the public health or the private health care view. The public health answer is, "The state requires screening for four conditions." The health care system answer is, "We can work with you to get 44 conditions tested for, but it will cost money, may not be reimbursed, and has not been proven effective when done on an individual basis." This dilemma, not unique to newborn screening, might be resolved if professional and public opinion strongly supported early expansion.
authors: Human Genetics Program, University of Oklahoma Health Sciences Center, USA. John-Mulvihill@ouhsc.edu
authors: John J
authors: JJ
authors: Mulvihill
authors: Piers R
authors: PR
authors: Blackett
authors: Susan E
authors: SE
authors: Palmer
mesh_terms: D003695:Delivery of Health Care / Q000592:standards; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000191:economics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000191:economics / Q000592:standards*; D009825:Oklahoma; D011331:Private Practice