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.

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions

“…We conclude that there is no meaningful change in empowerment in either arm of the study or between arms. In the future, measures such as anxiety (Spielberger et al ), decisional regret (Brehaut et al ), or a multi‐dimensional measure of informed choice (Lewis et al ; Michie et al ) may provide more nuanced metrics of DECIDE's effectiveness and a better understanding of the entire decision‐making process for diagnostic GWS among parents of seriously ill children and those undergoing GWS for other reasons.…”

“…A North American shortage of genetic counselors and adequately trained clinicians with knowledge of GWS has long been predicted (Brunham and Hayden ; Roche ) and is now becoming apparent (Pain ). It is therefore important to consider alternative methods to support patients' and families' GWS decision‐making to ensure adequate and equitable access (Bowdin et al ; Lewis et al ). Many have raised the need for innovative, web‐based tools to assist in genetic counseling (Dimmock ).…”

Newborn Sequencing in Genomic Medicine and Public Health

“…Parents will use an electronic decision aid to assist in decisions about exome sequencing. 57 After providing informed consent at an in-person study visit, those who accept sequencing will receive results from a "next-generation sequencing newborn screening (NGS-NBS)" panel of genes implicated in childhood-onset medically actionable conditions. 58 Parents will also be enrolled in a randomized trial of decisionmaking regarding whether to learn about 3 types of additional genomic findings in their child by using the electronic decision aid (clinicaltrials.gov identifier NCT02826694).…”

A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information

“…One evidence-based method to facilitate collaborative decisions is the use of decision aids, 11, 12 particularly if they are delivered digitally. Typically, decision aids include values clarification exercises that help parents understand what is important to them when making a decision about sequencing information and can help prepare them for clinical encounters.…”