TABLE 2

Cross-Consortium Working Groups

Ethical, Legal, Economic, and Social IssuesCommon Data ElementsOutcomes and Measure
Key questionsKey questionsKey questions
• Differences in perceptions of benefits and risks of sequencing between symptomatic and asymptomatic populations• Identify common data elements in the NSIGHT projects to be collected systematically across the consortium• Identify common outcome measures in the NSIGHT projects to be collected systematically across the consortium
• Parent willingness to accept sequencing and factors associated with parents’ decisions• Collaboration with NBSTRN to use LPDR for individual cohort and combined cohort analysis where applicable• Considerations of the overall cost/benefit ratio of newborn sequencing
• Extent to which parents are willing to accept uncertainties inherent in test interpretation• Define data elements to be shared more broadly, in a deidentified fashion, with other researchers in the NBSTRN
• How key stakeholders make decisions about whom to test, how to share results, under what circumstances, and with what goals
• Public policy regarding use of genome sequencing as part of mandated screening programs