Table 1.

Interview Semi-Structured Questions

1 What is the level of interest in pediatric and prenatal ES in your organization, relative to other medical technologies or services? What are the reasons for this level of interest?

2 Do you currently cover ES (or recommend coverage for ES, if you are not a payer) in pediatric setting? In prenatal setting? Why / why not?

3 What is your opinion on the aspects of clinical utility of pediatric ES (Figure 1) and prenatal ES (Figure 2)? Do you agree / disagree with the aspects of clinical utility depicted? Why agree / disagree? In each diagram, which aspect(s) alone would be sufficient for coverage, in the absence of other aspects?

4What do you perceive the risks and challenges of ES in pediatric and prenatal settings to be?

5 What is your reaction to the these suggestions by clinical experts on how to provide insurance coverage for pediatric and prenatal ES: Consider pediatric and prenatal ES research as clinical practice, because in reality, patients receive ES in the research as clinical care. Base reimbursement for ES on a limited number of qualified institutions with demonstrated high quality of relevant care.

Notes:

ES – exome sequencing

This table presents an excerpt from the interview guide. The guide also included background and context (description of standard of care testing for congenital anomalies and neurodevelopmental disorders and the role of ES in management of these conditions), as well as Figures 1 and 2 conceptualizing clinical utility.