Patients' views on incidental findings from clinical exome sequencing

Clift, Kristin; Halverson, Colin; Fiksdal, Alexander; Kumbamu, Ashok; Sharp, Richard R.; McCormick, Jennifer B.

doi:10.1016/j.atg.2015.02.005

Cited by 82 publications

(106 citation statements)

References 41 publications

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“…41,48,50 WES/WGS providers, specifically, raised the following additional concerns: justice issues related to limited resources, 45,48,49,57 complex logistics 57,58 strains on time and funding, 45,48,57,58,59 lack of participant understanding, 48,60 qualification of HCPs to manage SF, 48 and the fact that knowledge around WES/WGS is currently limited and still developing. 47,48,57 Providers were concerned that disclosure of actionable SF would warrant treatment or surveillance that may be harmful in itself or expensive.…”

Section: Resultsmentioning

confidence: 99%

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: 99%

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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“…19 Other considerations for foregoing UFs, which have also been touched on in previous research included negative emotional impact; insurance ineligibility; lack of immediate (medical) action; and doubts/denial of non-medical utility claims. 16,[20][21][22][23][24][25] In contrast, other parents did not view the child's autonomy as supporting decline of certain UFs at present, even if they thought their child would become autonomous. Instead, they favored disclosure of UFs due to considerations of non-medical utility (or for (possible) future medically actionability).…”

Section: Discussionmentioning

confidence: 98%

“…Previous studies have also identified this type of reasoning. 16,[19][20][21][22][23][24][25] Our findings provide important information about what parents regard as ethically justified reasons for disclosing/withholding UFs. Below we discuss how various key findings from our study are essential for morally responsible policy development and counseling.…”

Section: Discussionmentioning

confidence: 99%

“…To date, few empirical qualitative studies have investigated the preferences and considerations of parents actually confronted with the choice about (non)disclosure of UFs from clinical WES for their child. [15][16][17] Our study, which was conducted in the Netherlands where WES is part of standard clinical genetics care 18 and health insurers reimburse the costs for its use in diagnostics, is one of the first studies to research non-hypothetical parental considerations for favoring acceptance or decline of UFs in a clinical setting.…”

Section: Introductionmentioning

confidence: 99%

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Whole-exome sequencing in pediatrics: parents’ considerations toward return of unsolicited findings for their child

et al. 2016

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Parents' preferences for unsolicited findings (UFs) from diagnostic whole-exome sequencing (WES) for their children remain largely unexplored. Our aim was to gain insight into parental considerations favoring acceptance/decline of UFs pertaining to their child. We conducted 20 qualitative, semistructured interviews with parents (n = 34) of children with a developmental delay, aged o1 to 17 years, after consenting to WES, but before feedback of results. Key findings from our study were that all parents favored acceptance of UFs for medically actionable conditions in childhood, but that preferences and considerations diverged for UFs with no medical actionability, or only in adulthood, and regarding carrier-status. Sometimes non-medical utility considerations (considerations of usefulness of knowing UFs, not rooted in (preventive) medical treatment or controls) were given in favor of disclosure of UFs. Sometimes the child's future autonomy formed a reason to withhold UFs at present, despite an unfavorable prognosis concerning the child's cognitive capabilities. Some parents only preferred receiving UFs if these findings were directly related to their reasons for seeking a diagnosis. These findings are essential for developing morally responsible policy and for counseling. Further research should focus on whether considerations of non-medical utility alone can justify disclosure of UFs and whether reasons for seeking a diagnosis place further constraints on what UFs may be returned/withheld. How parents can be aided in contemplating different scenarios regarding their child's future development also deserves further inquiry.

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“…Qualitative research on this subject has suggested many individuals find 9 this information actionable in other (non-medical) ways and express that they would live their 10 lives differently if they knew they were at increased risk of developing such a condition or 11 would prepare for developing the disease (Clift et al 2015;Yushak et al 2016). Our study 12 identified 21 participants with one or two copies of the APOE e4 allele, which significantly 13 increases lifetime risk for developing Alzheimer's disease (Corder et al 1993;Bertram et al 14 2010).…”

mentioning

confidence: 88%