title: Supporting Parental Decisions About Genomic Sequencing for Newborn Screening: The NC NEXUS Decision Aid.
abstract: Advances in genomic sequencing technology have raised fundamental challenges to the traditional ways genomic information is communicated. These challenges will become increasingly complex and will affect a much larger population in the future if genomics is incorporated into standard newborn screening practice. Clinicians, public health officials, and other stakeholders will need to agree on the types of information that they should seek and communicate to parents. Currently, few evidence-based and validated tools are available to support parental informed decision-making. These tools will be necessary as genomics is integrated into clinical practice and public health systems. In this article we describe how the North Carolina Newborn Exome Sequencing for Universal Screening study is addressing the need to support parents in making informed decisions about the use of genomic testing in newborn screening. We outline the context for newborn screening and justify the need for parental decision support. We also describe the process of decision aid development and the data sources, processes, and best practices being used in development. By the end of the study, we will have an evidenced-based process and validated tools to support parental informed decision-making about the use of genomic sequencing in newborn screening. Data from the study will help answer important questions about which genomic information ought to be sought and communicated when testing newborns.
authors.affiliation: Center for Communication Science, and melewis@rti.org.
authors.forename: Megan A
authors.initials: MA
authors.lastname: Lewis
authors.affiliation: Center for Communication Science, and.
authors.forename: Ryan S
authors.initials: RS
authors.lastname: Paquin
authors.affiliation: Department of Pediatrics, and Department of Genetics, and.
authors.forename: Myra I
authors.initials: MI
authors.lastname: Roche
authors.affiliation: Center for the Advancement of Health Information Technology.
authors.forename: Robert D
authors.initials: RD
authors.lastname: Furberg
authors.affiliation: Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
authors.forename: Christine
authors.initials: C
authors.lastname: Rini
authors.affiliation: Department of Genetics, and.
authors.forename: Jonathan S
authors.initials: JS
authors.lastname: Berg
authors.affiliation: Department of Pediatrics, and Department of Genetics, and.
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Powell
authors.affiliation: RTI International, Research Triangle Park, North Carolina; and.
authors.forename: Donald B
authors.initials: DB
authors.lastname: Bailey
mesh_terms: D003657:Decision Making; D003661:Decision Support Techniques; D059472:Exome / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D015894:Genome, Human / Q000235:genetics; D006266:Health Education / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007231:Infant, Newborn; D020407:Internet; D015997:Neonatal Screening; D009657:North Carolina; D010290:Parents; D017422:Sequence Analysis, DNA