Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

Savatt, Juliann M.; Wagner, Jennifer K.; Joffe, Steven; Rahm, Alanna Kulchak; Williams, Marc S.; Bradbury, Angela R.; Davis, F. Daniel; Hergenrather, Julie; Hu, Yirui; Kelly, Melissa A.; Kirchner, H. Lester; Meyer, Michelle N.; Mozersky, Jessica; O’Dell, Sean M.; Pervola, Josie; Seeley, Andrea; Sturm, Amy C.; Buchanan, Adam H.

doi:10.1186/s12887-020-02070-4

Table 1 Outcomes, covariates, time points and validated measures in quantitative surveys

From: Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents

Data Collection Method	Domain	Validated Measure	Time Points	Completed By
	Aim 1 – Psychosocial Outcomes among Study Groups
	Outcomes – All Groups
Quantitative survey	General anxiety and depression^a	Assessment of symptoms of DSM-IV anxiety and depression in children [56] Hospital Anxiety & Depression Scale [57]	T1, T2, T3, T4	P/A
	Family functioning and cohesion^a	General Functioning subscale (short form) of McMaster Family Assessment Device [58]	T1, T2, T3, T4	P/A
	Health-related quality of life^a	CDC HRQOL– 4 [59]	T1, T2, T3, T4	P/A
	Body image	Body Image Scale [60]	T1, T2, T3, T4	A
	Self-esteem	Rosenberg Self-Esteem Scale [61]	T1, T2, T3, T4	A
	Decision regret	Decision Regret Scale [62]	T2, T4	P
	Patient satisfaction	Genetic Counseling Satisfaction [63]	T2	P
	Covariates – All Groups
	Psychological flexibility	Acceptance and Action Questionnaire – II [64] Avoidance and Fusion Questionnaire for Youth [65]	T1, T2, T3, T4	P/A
	Lifestyle behaviors	Physical activity, diet, smoking and vaping [66] Alcohol consumption [67]	T1, T3, T4	A
	Information seeking	Health Information Orientation Scale [68]	T1	P
	Personal utility	Perceived utility of whole genome sequencing [69]	T1, T2, T3, T4	P
	Perceived risk	Perceived cancer/heart disease risk [43, 70]	T1, T2, T3, T4	P/A
	Health literacy	Brief health literacy scale [71]	T1	P
	Genomic literacy	Knowledge of genome sequencing [72]	T1	P
	Outcomes – Participants with Genomic Result – Groups 1 and 2
	Condition specific distress	Children’s Revised Impact of Events Scale [73]	T2, T3, T4	P/A
	Adjustment to genetic information	Psychological adaptation to genetic information scale [74]	T2, T3, T4	P
	Patient education and empowerment	Health Education Impact Questionnaire [75]	T2, T3, T4	P
	Family communication	Family communication of genetic test results [76]	T3	P
Qualitative interview	Constructs for which validated measures do not exist (e.g. vulnerable child syndrome, right to an open future)	n/a	T2, T4	P/A
Psychosocial assessment			Disclosure Visit	P/A
Observation of reactions to disclosure			Disclosure Visit	P/A
Observation of reactions to disclosure	Aim 2 – Cascade Testing and Risk reduction Initiation among Group 1 and 2 Parents
Quantitative Survey	Cascade testing uptake^a	Adapted from family communication of genetic test results [76]	T4	P
Quantitative Survey	Initiation of risk management behaviors^a	Adapted from risk management in unaffected women with pathogenic BRCA1/2 variants [54]	T4	P
EHR review	Cascade testing uptake^a	n/a	T4	n/a
EHR review	Initiation of risk management behaviors^a	n/a	T4	n/a

^aPrimary outcomes, T1 = baseline; T2 = 1-month post-disclosure; T3 = 6-months post-disclosure; T4 = 12-months post-disclosure, P=Parent of minor (ages 0–17), A = Adolescent (ages 11–17), EHR = Electronic Health Record

Back to article page

ISSN: 1471-2431

Contact us

Submission enquiries: bmcpediatrics@biomedcentral.com
General enquiries: ORSupport@springernature.com

BMC Pediatrics

Contact us