Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research

Oberg, Jennifer A.; Bender, Julia Glade; Cohn, Elizabeth; Morris, Marilyn C.; Ruiz, Jenny; Chung, Wendy K.; Appelbaum, Paul S.; Kung, Andrew L.; Levine, Jennifer

doi:10.1002/pbc.25520

Cited by 30 publications

(60 citation statements)

References 26 publications

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“…61 Providers felt that recipients' apparent enthusiasm for a wide range of SF—often wider than most programs currently offer—may result from incomplete understanding of the implications of SF. 47 Studies did report highly variable knowledge of WES/WGS among WES/WGS recipients, both potential and actual, 26,27,33,35,43,44,56 and providers' own understanding of SF was highly variable and sometimes insecure, 13,50,55,58,62,63 with implications for informed consent provision.…”

Section: Resultsmentioning

confidence: 98%

“…An overwhelming majority of stakeholders believe that some form of SF should be returned if identified. 23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44 When measured quantitatively, studies report a high desire (95–100%) to receive or return clinically actionable SF 27–29,31–33,38,43,44 ; notably, this includes surveys of genetics HCPs. 31,33 The most commonly cited reason for wanting SF was to have the opportunity to act on findings, although the definition of “actionability” varied.…”

Section: Resultsmentioning

confidence: 99%

“…31,33 The most commonly cited reason for wanting SF was to have the opportunity to act on findings, although the definition of “actionability” varied. It included the availability of treatment 13,24,33,36,42,45,46,47,48 and prevention, 24,25,26,42 but others endorsed or raised issues such as the ability to plan or alter lifestyle 24,26,27,32,35,41,42,45,49 or influence reproductive decision making. 25,29,30,32,33,37,45,48,50,51 More than half of stakeholders, to whom the question was asked, desired to receive or return “all” secondary findings, regardless of actionability (52–100%).…”

Section: Resultsmentioning

confidence: 99%

“…The most commonly cited reason against disclosure was the potential to cause anxiety or psychological harm. 24,29,34,35,36,41,43,45,46,49,50,53 This theme was widely raised in qualitative studies ( Table 1 ): semi-structured interview and focus group designs elicited interactive and qualified opinions, thus providing greater insights into how SF might be construed. 30,32,39,40,41,42,46,49,50 In some of these studies, participants acknowledged becoming less inclined to desire all SF during the course of the interview or focus group.…”

Section: Resultsmentioning

confidence: 99%

“…Recipients discussed the burden of knowing, particularly about disease risk that may not affect them for some years, the potential for SF to adversely change the way they lived their lives, and incompatibility with religious beliefs. 30,35,40,41,46 One study found that nearly three-quarters of participants factored potential distress arising from SF into their decision 26 ; however, for most, potential anxiety did not override their desire to receive SF. 24,34 …”

Section: Resultsmentioning

confidence: 99%

See 4 more Smart Citations

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Mackley

Fletcher

Parker

et al. 2017

Genetics in Medicine

132

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Purpose:As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move into routine clinical practice, it is timely to review data that might inform the debate regarding secondary findings (SF) and the development of policies that maximize participant benefit.Methods:We systematically searched for qualitative and quantitative studies that explored stakeholder views on SF in WES/WGS. Framework analysis was undertaken to identify major themes.Results:Forty-four articles reporting the views of 11,566 stakeholders were included. Stakeholders were broadly supportive of returning “actionable” findings, but definitions of actionability varied. Stakeholder views on SF disclosure exist along a spectrum: potential WES/WGS recipients' views were largely influenced by a sense of rights, whereas views of genomics professionals were informed by a sense of professional responsibility. Experience with genetic illness and testing resulted in greater caution about SF, suggesting that truly informed decisions require an understanding of the implications and limitations of WES/WGS and possible findings.Conclusion:This review suggests that bidirectional interaction during consent might best facilitate informed decision making about SF and that dynamic forms of consent, allowing for changing preferences, should be considered. Research exploring views from wider perspectives and from recipients who have received SF is critical if evidence-based policies are to be achieved.Genet Med 19 3, 283–293.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 3 more Smart Citations

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Mackley

Fletcher

Parker

et al. 2017

Genetics in Medicine

132

View full text Add to dashboard Cite

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Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2‐visit consent model

Johnson

Sykes

et al. 2019

Cancer

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Background Patients with cancer are increasingly offered genomic sequencing, including germline testing for cancer predisposition or other disorders. Such testing is unfamiliar to patients and families, and clear communication is needed to introduce genomic concepts and convey risk and benefit information. Methods Parents of children with cancer were offered the opportunity to have their children’s tumor and germline examined with clinical genomic sequencing. Families were introduced to the study with a 2‐visit informed consent model. Baseline genetic knowledge and self‐reported literacy/numeracy were collected before a study introduction visit, during which basic concepts related to genomic sequencing were discussed. Information was reinforced during a second visit, during which informed consent was obtained and a posttest was administered. Results As reflected by the percentage of correct answers on the pretest and posttest assessments, this model increased genetic knowledge by 11.1% (from 77.8% to 88.9%; P < .0001) in 121 parents participating in both the study introduction and consent visits. The percentage of parents correctly identifying the meaning of somatic and germline mutations increased significantly (from 18% to 59% [somatic] and from 31% to 64% [germline]; P < .0001). Nevertheless, these concepts remained unfamiliar to one‐third of the parents. No relation was identified between the change in the overall percentage of correct answers and self‐reported literacy, numeracy, or demographics. Conclusions The use of a 2‐visit communication model improved knowledge of concepts relevant to genomic sequencing, particularly differences between somatic and germline testing; however, these areas remained confusing to many participants, and reinforcement may be necessary to achieve complete understanding.

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Parents’ expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial

McGill

Wakefield

Tucker

et al. 2023

Cancer

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BackgroundGermline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child’s and family’s future cancer risk. Understanding parents’ perspectives of germline genome sequencing is critical to successful clinical implementation.MethodsA total of 182 parents of 144 children (<18 years of age) with poor‐prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child’s results, including clinically relevant germline findings (received by 13% of parents). Parents’ expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty‐five parents (of 43 children) were interviewed in depth.ResultsAt trial enrollment, most parents (63%) believed it was at least “somewhat likely” that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child’s genome sequencing results by their child’s clinician.ConclusionsMany parents of children with poor‐prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results.

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Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research

Abstract: Parents/guardians of children with cancer have limited knowledge about WGS. A two-step consent process may improve their ability to provide meaningful informed consent.

Cited by 30 publications

References 26 publications

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2‐visit consent model

Parents’ expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial

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