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. 2018 Mar 14:2:PO.17.00104.
doi: 10.1200/PO.17.00104. eCollection 2018.

Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations

Jennifer A Oberg  1 , Jenny Ruiz  1 , Trisha Ali-Shaw  1 , Kathryn A Schlechtweg  1 , Angela Ricci  1 , Andrew L Kung  1 , Wendy K Chung  1 , Paul S Appelbaum  1 , Julia L Glade Bender  1 , Jennifer M Levine  1
Affiliations

Whole-Genome and Whole-Exome Sequencing in Pediatric Oncology: An Assessment of Parent and Young Adult Patient Knowledge, Attitudes, and Expectations

Jennifer A Oberg et al. JCO Precis Oncol. .

Abstract

Purpose: The complexity of results generated from whole-genome sequencing (WGS) and whole-exome sequencing (WES) adds challenges to obtaining informed consent in pediatric oncology. Little is known about knowledge of WGS and WES in this population, and no validated tools exist in pediatric oncology.

Methods: We developed and psychometrically evaluated a novel WGS and WES knowledge questionnaire, the Precision in Pediatric Sequencing Knowledge Questionnaire (PIPseqKQ), to identify levels of understanding among parents and young adult cancer survivors (≥ 18 years old), off therapy for at least 1 year from a single-institution pediatric oncology outpatient clinic. Participants also completed health literacy and numeracy questionnaires. All participants provided written informed consent.

Results: One hundred eleven participants were enrolled: 76 were parents, and 35 were young adults. Of the total cohort, 77 (69%) were female, 63 (57%) self-identified as white, and 74 (67%) self-identified as non-Hispanic. Sixty-six (59%) had less than a college degree. Adequate health literacy (n = 87; 80%) and numeracy (n = 89; 80%) were demonstrated. Internal consistency was high (Cronbach's α = .88), and test-retest reliability was greater than the 0.7 minimum requirement. Scores were highest for genetic concepts related to health and cancer and lowest for WGS and WES concepts. Health literacy and educational attainment were significantly associated with PIPseqKQ scores. Overall, participants felt the benefits of WGS and WES outweighed the potential risks.

Conclusion: Parents and young adult cancer survivors have some genetics knowledge, but they lack knowledge about WGS and WES. The PIPseqKQ is a reliable tool that can identify deficits in knowledge, identify perceptions of risks and benefits of WGS and WES, and help clinicians tailor their consent discussions to best fit families. The PIPseqKQ also may inform the development of educational tools to better facilitate the informed consent process in pediatric oncology.

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Conflict of interest statement

The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated. Relationships are self-held unless noted. I = Immediate Family Member, Inst = My Institution. Relationships may not relate to the subject matter of this manuscript. For more information about ASCO's conflict of interest policy, please refer to www.asco.org/rwc or ascopubs.org/po/author-center. Jennifer A. ObergNo relationship to discloseJenny RuizNo relationship to discloseTrisha Ali-ShawNo relationship to discloseKathryn A. SchlechtwegNo relationship to discloseAngela RicciNo relationship to discloseAndrew L. KungConsulting or Advisory Role: Darwin Health, MI Bioresearch, Imago Bioscience Patents, Royalties, Other Intellectual Property: Royalty from licensing agreements with MI BioresearchWendy K. ChungConsulting or Advisory Role: Regeneron Genetics Center Research Funding: BiogenPaul S. AppelbaumNo relationship to discloseJulia L. Glade BenderResearch Funding: Bristol-Myers Squibb (Inst), Pfizer (Inst), Novartis (Inst), Ignyta (Inst), Amgen (Inst), Celgene (Inst), Eisai (Inst), Lilly (Inst), Merck (Inst) Travel, Accommodations, Expenses: Novartis, Amgen, MerckJennifer M. LevineNo relationship to disclose

Figures

Fig 1.
Fig 1.
Precision in Pediatric Sequencing Knowledge Questionnaire (PIPseqKQ) item response distributions. GGC, general genetic concepts; GGHC, general genetic concepts related to health and cancer; SC, sequencing concepts.
Fig 2.
Fig 2.
Proportion of correct responses for the Precision in Pediatric Sequencing Knowledge Questionnaire and individual domains. GGC, general genetic concepts; GGHC, general genetic concepts related to health and cancer; SC, sequencing concepts.
Fig 3.
Fig 3.
Proportion of items correct for select demographic characteristics: (A) literacy level, (B) race/ethnicity, and (C) educational attainment. GGC, general genetic concepts; GGHC, general genetic concepts related to health and cancer; SC, sequencing concepts.
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