Table 2.

Summary of included studies’ measures and main findings on parents’ perceived and actual understanding of GS/ES.

First author, ref.	Study design	Summary of measures used to assess understanding
Anderson et al. [30]	Qualitative	SSI (understanding of NGS, information needs, motivations and expectations of participating
Berrios et al. [31]	Mixed methods (retrospective)	Qualitative: questions about the study purpose, enrollment process, attitudes towards pediatric NGS and research, previous genetic testing experience, whether a genetic diagnosis from NGS was received and the impact of the diagnosis Quantitative: Actual understanding—applied subscale from a validated genetic knowledge measure; combined Actual/Perceived understanding scores from awareness subscale of the Genetic Literacy and Comprehension (GLAC) Instrument
Cakici et al. [32]	Quantitative	15 question survey at two timepoints (immediately after enrollment, and within 1 week of return of genomic results); questions assessed: adequacy of consent, perceived utility of GS results, decisional regret
Chassagne et al. [18]	Mixed methods	Qualitative: SSI after return of results (understanding, expectations and reactions) Quantitative: questionnaire given prior to return of results
Dheensa et al. [19]	Qualitative	SSI with questions about experiences and motivations, hopes and concerns, perspectives on NGS research and broader use of genomic data, expectation of a diagnosis and consultation with other family members
Gal et al. [20]	Qualitative	SSI assessed previous experiences with and understanding of genetic testing, perceptions of clinical GS, thoughts about clinical genome sequencing
Jaitovich Groisman et al. [21]	Mixed methods	Mixed methods questionnaire addressing experiences with and understanding of child’s health condition, parent(s)’ decision-making regarding NGS
Johnson et al. [22]	Quantitative	Author-developed genetic/genomic knowledge questionnaire
Lewis et al. [23]	Qualitative	Semi-structured interview probing understanding of the purpose of genome sequencing, likelihood of a positive result, how genomic data will be later used, motivations and concerns, consent to secondary findings; information needs and satisfaction with the consent procedures and materials
Luksic et al. [24]	Qualitative	Semi-structured interview with questions probing the impact of testing, sharing of results, emotional reactions to and understanding of results, and specific questions about experiences with access to clinical care; authors categorized understanding of the results as: accurate, accurate plus, accurate minus, or inaccurate
Malek et al. [25]	Qualitative	Semi-structured interviews exploring the expected and perceived benefits of clinical WES
Marron et al. [9]	Quantitative	From a broader 103-item questionnaire, a 4-item questionnaire used to assess understanding of NGS (adapted from the Quality of Informed Consent measure)
Marron et al. [26]	Quantitative	From a broader 103-item questionnaire, selected data reporting on: respondent characteristics, hopes and concerns about profiling, understanding of profiling, results of participation, and preferences for return of results
McConkie-Rosell et al. [27]	Qualitative	Semi-structured interview, questions explored parental expectations and understanding of NGS and returned results, use of the NGS data, communication of findings to health/educational professionals and family members, information needs
Rini et al. [28]	Mixed methods	Longitudinal study with questionnaire; Actual understanding—questionnaire with University of North Carolina Genomic Knowledge Scale (questions about genes, genetic effects on health, familial inheritance, and diagnostic exome sequencing); Perceived understanding—six items probing perceived understanding of NGS
Tolusso et al. [29]	Quantitative	Survey modeled off Quality of Informed Consent (QuIC) questionnaire; Actual understanding—questions about NGS, secondary findings (scope, description, benefits, risks, voluntary, refusal, alternative test, confidentiality, future use, and secondary findings); Perceived understanding—questions assessing perceived understanding of WES and SFs

SSI Semi-structured interview.