Table 1 TeleKidSeq participant outcomes by survey timepoints

Understanding

 Perceived understanding of genomic testing results

NYCKidSeq (novel); CSER (novel); CSER measure adapted from Psychological Adaptation to Genetic Information Scale (PAGIS) [33]

–

X

X

 Objective understanding of genomic testing results

NYCKidSeq (novel)

–

X

X

 Understanding of medical follow-up and actionability

Adapted from CSER (novel): Recommended Medical Actions and Follow Through on Recommendations Attributable to Genomic Testing (MRA)

–

X

–

Attitudes

 Expectations of genetic testing

Adapted from Patient Reported Utility (PrU) [34]; NYCKidSeq (novel)

X

–

–

 Comfort with technology

Adapted from Computer-Email-Web (CEW) Fluency Scale [35]

X

–

–

 Satisfaction with results

CSER (novel)

–

X

–

 Satisfaction with communication mode

CSER (novel), adapted for TeleKidSeq

–

X

X

 Perceptions of Satisfaction and Usefulness of Telehealth Delivery

Adapted from Telemedicine Satisfaction and Usefulness Questionnaire (TSUQ) [30]

–

X

–

 Patient assessment of communication

CSER measure adapted from Patient Assessment of cancer Communication Experiences (PACE) [36, 37]

–

X

–

 Evaluation of telehealth communication

TeleKidSeq (novel) adapted from Lobb et al. 2006 [31] and Sanderson et al. 2016 [32]

–

X

–

 Satisfaction with interpretation and perceived cultural concordance (Spanish speakers only)

CSER (novel)

–

X

–

 Evaluation of provided patient resources

NYCKidSeq/TeleKidSeq (novel)

–

–

X

Perceived utility

 Patient reported utility

CSER measure adapted from Patient Reported Utility (PrU) [34]

–

X

X

Psychological impact

 Feelings about genomic testing results

CSER measure adapted from Feelings About Genomic Testing Results (FACToR) [38]

–

X

X

 Decisional regret

(for positive secondary findings only)

Adapted from Decision Regret Scale [39]

–

X

X

Behavioral impact

–

 Information seeking

CSER (novel)

–

X

X

 Adherence to medical follow-up recommendations; patient-initiated actions attributable to genomic testing

Adapted from CSER (novel): Recommended Medical Actions and Follow Through on Recommendations Attributable to Genomic Testing (MRA); Patient-Initiated Actions Attributable to Genomic Testing (PIA)

–

–

X

 Family communication

CSER (novel)

–

–

X

Social impact

 Access to care

CSER measure adapted from Medicare Expenditure Panel Survey, Household Component (MEPS-HC) [40]

X

–

–

 Access to technology

TeleKidSeq measure (novel) adapted from CSER’s “Access to care” measure

X

–

–

 Quality of life ascertainment (for child)

Pediatric Quality of Life Inventory (PedsQL) Parent Proxy Generic Core [41]; Adapted from EuroQol-Visual Analog Scale (VAS) [42]

X

–

X

Economic impact

 Cost utility

Adapted from Hebert et al. 2008 [43] and Valuation of Informal Care Questionnaire (iVICQ) [44]

X

–

X

Sociodemographic factors

–

 Health literacy; subjective numeracy

CSER measure adapted from BRIEF Health Literacy Survey [45]; CSER measure adapted from Subjective Numeracy Scale (SNS-3) [46]

X

–

–

 History of receiving genetic testing

NYCKidSeq (novel) adapted from Genetic testing to Understand and Address Renal Disease Disparities (GUARDD) study [47]

X

–

–

 Trust in health care system

CSER measure adapted from Health Care System Distrust Scale [48]

X

–

–

 Insurance status of child

CSER measure adapted from National Health and Nutrition Examination Survey (NHANES) [49]

X

–

X

 Child only: sex, grandparent(s) country of origin

CSER measure adapted from GenIUSS [50], CSER (novel)

X

–

–

 Child and Parent: age, race/ethnicity, country of origin, zip code

Date of birth, CSER measure adapted from US Census [51, 52], CSER (novel), Zip code

X

–

–

 Parent only: education level, language, income, household, marital status

Education and language: CSER (novel) Income and household: CSER measure adapted from NHANES [49] Marital status: NYCKidSeq (novel)

X

–

–

 Coronavirus impact

Adapted from Coronavirus Impact Scale [53]

X

–

–