Table 2.

Strategy for analyzing the impact of population newborn genomic sequencing (nGS) on downstream health care costs.

Step	BabySeq Project Implementation
1. Define relevant conditions
Primary conditions	Conditions identified prior to disclosure for which care may be influenced by nGS • Existing diagnoses • Family histories suggestive of possible genetic disease
Secondary conditions	Conditions identified during disclosure for which care may be influenced by nGS • Unexpected monogenic disease risks • Manifesting carrier status
2. Identify relevant services	For each primary and secondary condition, develop patient-specific lists of services that may be used for • Diagnosis • Screening • Treatment Services of interest are identified based on review of • GeneReviews [28], • Online Mendelian Inheritance in Man [29] • National Comprehensive Cancer Network guidelines [30] • UpToDate [31]
3. Quantify health care utilization	Record how often the relevant services were received by each patient based on • Medical records reviews • Family self-report  ○ Surveys  ○ Periodic calls with families  ○ 10-month check-in • Provider surveys