ble conditions, such as PKU or hypothyroidism.
32 However, there has been
a notable shift in recent years, turning away from screening only if testing
may bring immediate benefit to the child, to an approach of testing for nonactionable conditions. This shift is demonstrated by the inclusion of Cystic
33 a non-treatable condition that the Cystic Fibrosis Foundation explicitly recommended against including in NBS panels in 1983.34 Though
only six states mandated testing for Cystic Fibrosis just five years ago, all
fifty states now do so.
35 While uniformity of newborn screening programs
has increased overall with federal efforts, state laws surrounding newborn
screening implementation still differ significantly.
All fifty states conduct screening of newborns shortly after birth.
2013, state NBS panels ranged from testing for thirty-one to fifty-five conditions, with every U.S. state testing for at least all twenty-nine of the
ACMG’s core panel disorders.
38 Minnesota and New Jersey mandate the
largest NBS panel, requiring fifty-five conditions to be tested.
39 These large
panels are a huge and rapid leap from the small six-condition panel used by
forty-six states as recently as ten years ago.
40 The adoption of new technologies, such as tandem mass spectrometry (MS/MS), which allows multiple
conditions to be tested rapidly from the same sample, have been instrumental in the rapid growth of NBS programs.
Other than panel size, one key variance among states is the cost to par-
http://www.babysfirsttest.org/newborn-screening/states (last visited May 22, 2014).
32. See Ctrs. for Disease Control & Prevention, Newborn Screening (updated May 13,
2013), http://www.cdc.gov/ncbddd/pediatricgenetics/newborn_screening.html. While PKU
is mitigated with a special diet, the effects of slowed growth and brain damage that accompany hypothyroidism can be avoided by early use of hormone treatment through medication.
Id. Other conditions that are not as easily treated early, but are included in panels, have secondary benefits from early identification, such as increased protections to compensate for
vulnerability to infection that occurs with sickle cell anemia. Id.
33. See Cystic Fibrosis Found., Why are Newborns Screened for CF? (updated Jan. 31,
34. Lynn M. Taussig et al., Committee Report: Neonatal Screening for Cystic Fibrosis,
72 PEDIATRICS 741, 744 (1983).
35. Why are Newborns Screened for CF?, supra note 33.
36. About Newborn Screening: Conditions Screened by State, supra note 31.
37. Suzanne T. Kotkin-Jaszi & John E. Sherwin, Newborn Screening: The Tandem
Mass Spectrometry Revolution, CLINICAL LABORATORY NEWS (2011),
38. Malone, supra note 11; see National Newborn Screening Status Report, supra note
10; About Newborn Screening: Conditions Screened by State, supra note 31.
39. See National Newborn Screening Status Report, supra note 10.
40. Jeffrey R. Botkin, Whole Genome Sequencing in Newborn Screening: What are we
testing for?, NAT’L HUMAN GENOME RESEARCH INST. (Apr. 25, 2013),
41. Kotkin-Jaszi & Sherwin, supra note 37. As early as 2011, all forty-nine states that
used MS/MS technology required testing for no fewer than 30 medical conditions. Id. at Fig.