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. 2016 Jan;137 Suppl 1(Suppl 1):S8-15.
doi: 10.1542/peds.2015-3731D.

Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs

Jaime S King  1 , Monica E Smith  2
Affiliations

Whole-Genome Screening of Newborns? The Constitutional Boundaries of State Newborn Screening Programs

Jaime S King et al. Pediatrics. 2016 Jan.

Abstract

State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ∼30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expand, the question of whether WGS has a role to play in state NBS programs becomes increasingly relevant and complex. As geneticists and state public health officials begin to contemplate the technical and procedural details of whether WGS could benefit existing NBS programs, this is an opportune time to revisit the legal framework of state NBS programs. In this article, we examine the constitutional underpinnings of state-mandated NBS and explore the range of current state statutes and regulations that govern the programs. We consider the legal refinements that will be needed to keep state NBS programs within constitutional bounds, focusing on 2 areas of concern: consent procedures and the criteria used to select new conditions for NBS panels. We conclude by providing options for states to consider when contemplating the use of WGS for NBS.

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Conflict of interest statement

POTENTIAL CONFLICT OF INTEREST: The authors have indicated they have no potential conflicts of interest to disclose.

FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.

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