Mandatory newborn screening in the United States: History, current status, and existential challenges

Abstract

Beginning in the 1960s, mandatory newborn screening (NBS) of essentially all infants has been a major public health success story. NBS is not just a blood test, rather, it is a complex, integrated system that begins with timely testing, scrupulous follow up of patients, tracking of outcomes, quality improvement of all aspects of the process, and education of providers, staff, and parents. In the past, expansion of NBS programs has been driven by new testing technology, but now is increasingly driven by the development of novel therapeutics and political advocacy. Each state determines how the NBS system will be structured in that state, but there is increasing oversight and support for harmonization at a federal level. Several recent initiatives, together with the increased number of conditions screened and the concomitant increase in burdensome false‐positive tests, are creating new scrutiny of NBS systems, and potentially pose an existential risk to the public acceptance of mandatory NBS. The history, current state and challenges for NBS are explored in this issue, with some suggestions as to how to address them.

Pain points in parents’ interactions with newborn screening systems: a qualitative study

“…This shock is partly attributable to the fact that parents may not have been informed of or considered the possibility that their child may receive a positive NBS result [ 2 ]. This problem is particularly acute in the United States given that – unlike many other developed countries where NBS screening is strictly “opt-in” and requires informed consent [ 9 ] – NBS testing in the United States is, at least currently [ 10 ], typically mandatory and does not necessarily demand the extensive educational effort required to meet the standard of informed consent. Further, the emotional distress experienced by parents receiving a positive NBS result can be exacerbated by the challenges experienced by clinicians and other health professionals in skillfully communicating bad news [ 11 , 12 ].…”

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

“…Early detection of the disease allows prompt treatment and surveillance of affected newborns, which significantly reduces mortality and disease burden. For these reasons, cblC has been included in the Recommended Universal Screening Panel (RUSP) of the USA since 2006 [ 16 ]. In Italy, NBS for metabolic disorders has been recently regulated and made mandatory in all Italian regions ( Law n. 267/2016 ).…”

The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

“…In 2008, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), established by the Department of Health and Human Services (DHHS) in 2003, was given the responsibility to complete regular evidence-based systematic review of and recommendations for conditions to be included on the Recommended Universal Newborn Screening Panel (RUSP), which is based on the 2006 ACMG expert report outlining principles and processes for uniform NBS as well as the original Wilson and Jungner criteria ( 8 , 9 , 29 , 31 ). Newborn screening in all states is mandatory, with limited ability for parents to opt out of testing ( 32 ). The current core and secondary targets can be found on the ACHDNC website at Recommended Uniform Screening Panel | Official web site of the U.S. Health Resources & Services Administration ( hrsa.gov ) ( 33 ).…”