Table 1.

Examples of outcomes in assessments of utility of genomic medicine

Field	Example stakeholders who share orientation	Utility operationalization	Measurement approach	Example CSER measurement
Philosophy	institutional review boards, patients, health technology assessment agencies	balance of benefit and harm	qualitative methods (interviews, focus groups), surveys, psychometric outcome instruments	interviews on patient/parent perceived utility
Medicine	patients, clinicians, clinical administrators, payers	usefulness (clinical utility, personal utility)	changes in medical management, psychometric outcome instruments	clinician-reported recommended clinical actions, provider perceived utility, PrU, FACToR
Decision psychology/ health economics	clinical administrators, payers, therapeutic developers	health-related quality of life, health state utility	preference-based instruments or direct elicitation	PedsQL, SF-12

CSER, Clinical Sequencing Evidence-Generating Research consortium; PrU, patient-reported utility; FACToR, feelings about genomic testing results; PedsQL, pediatric quality of life inventory; SF-12, 12-item short form health survey.