Experiences with obtaining informed consent for genomic sequencing

Bernhardt, Barbara A.; Roche, Myra I.; Perry, Denise; Scollon, Sarah; Tomlinson, Ashley; Skinner, Debra

doi:10.1002/ajmg.a.37256

Cited by 94 publications

(112 citation statements)

References 51 publications

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“…The patient-provider discussion should be tailored to address patient concerns instead of a recitation of statements on the consent form. This movement away from the common elements disclosed in a consent form and toward focusing on patient concerns or misunderstanding has been reported for more complex genomic testing [61].…”

Section: Discussionmentioning

confidence: 92%

A Review of Consent Practices and Perspectives for Pharmacogenetic testing

Haga

Mills

2016

Pharmacogenomics

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Aim:We aimed to understand consent practices for pharmacogenetic (PGx) testing. Methods: We conducted a literature review and analysis of consent forms from clinical laboratories offering PGx testing. Results: Our review of the literature shows a lack of consensus about the need for and type of informed consent for PGx testing. We identified 35 companies offering PGx testing and were able to confirm consent practices for 22 of those. We found a range of variability in the consent practices regarding the consent approach and information disclosed. Conclusion: Variability in the consent practices among laboratories offering PGx testing mirrors the ambiguous practices and recommendations reported in the literature. Establishing a minimal set of information to be disclosed to patients may help address the disparities in consent practice.

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Section: Discussionmentioning

confidence: 92%

A Review of Consent Practices and Perspectives for Pharmacogenetic testing

Haga

Mills

2016

Pharmacogenomics

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“…Many patients and study participants undergoing genomic sequencing have unrealistically high expectations that testing will yield results that will be medically useful [9,12]. Indeed, it has been suggested that many hold a ‘therapeutic misconception’ about the likelihood that sequencing will lead to diagnostic or therapeutic benefits [39].…”

Section: Discussionmentioning

confidence: 99%

“…The provider, rather than the patient and family, takes on the responsibility of figuring out what is wrong [41,42]. However, because of high patient and public expectations of genetic testing and CGES [9,11], such promises may not resonate with families. For many parents, CGES is seen as a last resort for answers [43].…”

Section: Discussionmentioning

confidence: 99%

“…Such secondary findings may include variants in genes for medically actionable Mendelian conditions, as well as other categories of findings including those related to nonmedically actionable genetic conditions, carrier status and pharmacogenetics results. Importantly, since public expectations of gaining useful information from CGES are high [9,11], preparing families to maintain realistic expectations about the spectrum and utility of possible results, including the uncertainty associated with some results, is critical [9,12,13]. …”

Section: Introductionmentioning

confidence: 99%

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How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

et al. 2017

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Aim This study provides preliminary data on the process and content of returning results from exome sequencing offered to children through one of the Clinical Sequencing Exploratory Research (CSER) projects. Materials & methods We recorded 25 sessions where providers returned diagnostic and secondary sequencing results to families. Data interpretation utilized inductive thematic analysis. Results Typically, providers followed a results report and discussed diagnostic findings using technical genomic and sequencing concepts. We identified four provider processes for returning results: teaching genetic concepts; assessing family response; personalizing findings; and strengthening patient–provider relationships. Conclusion Sessions should reflect family interest in medical management and next steps, and minimize detailed genomic concepts. As the scope and complexity of sequencing increase, the traditional information-laden counseling model requires revision.

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“…These ‘secondary results’ pose an ethical dilemma for health care providers: how much of this information – spanning multiple types of diseases and conditions, with different levels of uncertainty, risk, severity, and actionability – should be shared with patients? (Berg, Khoury, & Evans, 2011; Bernhardt et al, 2015; Helm, Langley, Spangler, & Schrier Vergano, 2015; Roche & Berg, 2015) Further, because sequencing results can have medical, psychological, and social implications (e.g. privacy, insurance) for patients and their families, they also present a dilemma for public policy (Downing, Williams, Daack-Hirsch, Driessnack, & Simon, 2013; Helm et al, 2015; Klitzman, 2010; Lohn, Adam, Birch, Townsend, & Friedman, 2013).…”

Section: Introductionmentioning

confidence: 99%

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

Ryan

Vries

Uhlmann

et al. 2017

Journal of Genetic Counseling

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The therapeutic use of genomic sequencing creates novel and unresolved questions about cost, clinical efficacy, access, and the disclosure of sequencing results. The disclosure of the secondary results of sequencing poses a particularly challenging ethical problem. Experts disagree about which results should be shared and public input – especially important for the creation of disclosure policies – is complicated by the complex nature of genetics. Recognizing the value of deliberative democratic methods for soliciting informed public opinion on matters like these, we recruited participants from a clinical research site for an all-day deliberative democracy (DD) session. Participants were introduced to the clinical and ethical issues associated with genomic sequencing, after which they discussed the tradeoffs and offered their opinions about policies for the return of secondary results. Participants (n=66; mean age = 57 (SD = 15); 70% female; 76% white) were divided into 10 small groups (5 to 8 participants each) allowing interactive deliberation on policy options for the return of three categories of secondary results: 1) medically actionable results; 2) risks for adult-onset disorders identified in children; and 3) carrier status for autosomal recessive disorders. In our qualitative analysis of the session transcripts, we found that while participants favored choice and had a preference for making information available, they also acknowledged the risks (and benefits) of learning such information. Our research reveals the nuanced reasoning used by members of the public when weighing the pros and cons of receiving genomic information, enriching our understanding of the findings of surveys of attitudes regarding access to secondary results.

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Experiences with obtaining informed consent for genomic sequencing

Cited by 94 publications

References 51 publications

A Review of Consent Practices and Perspectives for Pharmacogenetic testing

A Review of Consent Practices and Perspectives for Pharmacogenetic testing

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

Public's Views toward Return of Secondary Results in Genomic Sequencing: It's (Almost) All about the Choice

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