Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.

Tolusso, Leandra; Collins, Kathleen; Zhang, Xue; Holle, Jennifer; Valencia, C. Alexander; Myers, Melanie F.

doi:10.1007/s10897-016-0052-9

Cited by 19 publications

(42 citation statements)

References 54 publications

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“…Concerns about implications of secondary findings for life insurance were also raised and not easily addressed because of possible future changes to legal and other protections. The finding that people considering genetic or genomic testing are concerned about insurance is not a new observation [15,34]. However, our study adds insight on people's views regarding protections in this area.…”

Section: Issues Around Secondary Findingsmentioning

confidence: 70%

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

et al. 2020

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The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents' attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project. Parents were positive about contributing to research, although some had needed reassurance about data protections. Although most felt positive about secondary findings, some could not recall or misunderstood key aspects. Some were also concerned about potential emotional impact of results and a few raised concerns about life insurance implications, and the impact of future legal changes. Participants were generally positive about consent appointments, but several raised concerns about 'information overload' because of deciding about secondary findings at the same time as about the main diagnostic genome sequencing and data contribution. Additional information resources, particularly online tools, were highlighted as potentially useful ways of supporting the consent process. We conclude that parents offered genome sequencing as part of a national hybrid clinical and research project report many positive attitudes and experiences, but also concerns and misunderstandings. Further research is needed on how best to support informed consent, particularly about secondary findings. Additional resources such as online tools might usefully support future genome sequencing consent processes.

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Section: Issues Around Secondary Findingsmentioning

confidence: 70%

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

et al. 2020

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“…Few previous studies have directly explored communication around genome sequencing consent. Some have explored attitudes regarding next-generation sequencing consent using focus groups, 22,23 interviews, 23–25 and surveys 26 conducted with participants (mostly parents) 22,23,25,26 and health professionals. 22,27–29 These shed some light on stakeholders’ sequencing attitudes and information needs.…”

Section: Discussionmentioning

confidence: 99%

Opening the ̏black box̋ of informed consent appointments for genome sequencing: a multisite observational study

Sanderson

Lewis

Patch

et al. 2019

Genetics in Medicine

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PurposeLittle is known about how health-care professionals communicate with patients about consenting to genome sequencing. We therefore examined what topics health-care professionals covered and what questions patients asked during consent conversations.MethodsTwenty-one genome sequencing consent appointments were audio recorded and analyzed. Participants were 35 individuals being invited to participate in the 100,000 Genomes Project (14 participants with rare diseases, 21 relatives), and 10 health-care professionals (“consenters”).ResultsTwo-thirds of participants’ questions were substantive (e.g., genetics and inheritance); one-third administrative (e.g., filling in the consent form). Consenters usually (19/21) emphasized participant choice about secondary findings, but less often (13/21) emphasized the uncertainty about associated disease risks. Consenters primarily used passive statements and closed-ended, rather than open-ended, questions to invite participants’ questions and concerns. In two appointments, one parent expressed negative or uncertain views about secondary findings, but after discussion with the other parent opted to receive them.ConclusionHealth-care professionals need to be prepared to answer patients’ questions about genetics to facilitate genome sequencing consent. Health-care professionals’ education also needs to address how to effectively listen and elicit each patient’s questions and views, and how to discuss uncertainty around the disease risks associated with secondary findings.

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“…Additionally, as illustrated by Kate's and Zara's cases, the apparent comprehensive nature of genomic sequencing may serve to increase client expectations if technology limitations are not comprehended. The importance of conveying to families that genomic sequencing may not achieve a diagnosis has been established (Tolusso et al 2017); however, in the authors' experience, the abilities of genomic technologies can sometimes be overstated or overestimated by clients and healthcare professionals alike. Kate's case also illustrates uncertainties arising when genomic sequencing tests are mainstreamed into areas of medicine where minimal data exists regarding diagnosis rates.…”

Section: Balancing Hope and Expectations While Evidence Emergesmentioning

confidence: 97%

Genetic Counseling in the Era of Genomics: What's all the Fuss about?

Brett

Wilkins

Creed

et al. 2018

Journal of Genetic Counseling

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As genomic sequencing becomes more widely available in clinical settings for diagnostic purposes, a number of genetic counseling issues are gaining precedence. The ability to manage these issues will be paramount as genetic and non-genetic healthcare professionals navigate the complexities of using genomic technologies to facilitate diagnosis and inform patient management. Counseling issues arising when counseling for diagnostic genomic sequencing were identified by four genetic counselors with 10 years of collective experience providing genetic counseling in this setting. These issues were discussed and refined at a meeting of genetic counselors working in clinical genomics settings in Melbourne, Australia. Emerging counseling issues, or variations of established counseling issues, were identified from the issues raised. Illustrative cases were selected where pre- and post-test genetic counseling was provided in clinical settings to individuals who received singleton or trio WES with targeted analysis. Counseling issues discussed in this paper include a reappraisal of how genetic counselors manage hope in the genomic era, informed consent for secondary use of genomic data, clinical reanalysis of genomic data, unexpected or unsolicited secondary findings, and trio sequencing. The authors seek to contribute to the evolving understanding of genetic counseling for diagnostic genomic sequencing through considering the applicability of existing genetic counseling competencies to managing emerging counseling issues and discussing genetic counseling practice implications.

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Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.

Cited by 19 publications

References 54 publications

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

Opening the ̏black box̋ of informed consent appointments for genome sequencing: a multisite observational study

Genetic Counseling in the Era of Genomics: What's all the Fuss about?

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