Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

Shickh, Salma; Clausen, Marc; Mighton, Chloe; Joshi, Esha; Glogowski, Emily; Schrader, Kasmintan A.; Scheer, Adena; Elser, Christine; Panchal, Seema; Eisen, Andrea; Graham, Tracy; Aronson, Melyssa; Semotiuk, Kara; Winter-Paquette, Laura; Evans, Matt; Lerner‐Ellis, Jordan; Carroll, June C.; Hamilton, Jada G.; Offit, Kenneth; Thorpe, Kevin E.; Laupacis, Andreas; Bombard, Yvonne

doi:10.1136/bmjopen-2018-021876

Cited by 21 publications

(22 citation statements)

References 38 publications

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“…It is also unclear at this point whether the Genomics ADvI-SER would save clinicians' time, While we did measure the time it took participants to compete the Genomics ADvI-SER (average 20 min) our study design did not have a comparison group, therefore time saved remains to be evaluated. We are evaluating the Genomics ADvISER compared to genetic counseling alone as part of a randomized controlled trial to address these questions and validate the tool [49].…”

Section: Discussionmentioning

confidence: 99%

“…3 The steps of the final decision aid (DA), The Genomics ADvISER. Adapted with permission from Shickh et al [49] Medically actionable, Category 2: Common disease risks, Category 3: Rare genetic diseases, Category 4: Brain diseases and Category 5: Carrier status. Following the video, users review the risks and benefits of the categories of IR.…”

Section: Final Version Of Da: Genomics Advisermentioning

confidence: 99%

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The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

et al. 2018

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Guidelines recommend patients be informed of their incidental results (IR) when undergoing genomic sequencing (GS), yet there are limited tools to support patients' decisions about learning IR. The aim of this study is to develop and test the usability of a decision aid (DA) to guide patients' selection of IR, and to describe patients' preferences for learning IR following use of the DA. We developed and evaluated a DA using an iterative, mixed-methods process consisting of (1) prototype development, (2) feasibility testing, (3) cognitive interviews, (4) design and programming, and (5) usability testing. We created an interactive online DA called the Genomics ADvISER, a genomics decision AiD about Incidental SEquencing Results. The Genomics ADvISER begins with an educational whiteboard video, and then engages users in a values clarification exercise, knowledge quiz and final choice step, based on a 'binning' framework. Participants found the DA acceptable and intuitive to use. They were enthusiastic towards GS and IR; all selected multiple categories of IR. The Genomics ADvISER is a new patient-centered tool to support the clinical delivery of incidental GS results. The Genomics ADvISER fills critical care gaps, given the health care system's limited genomics expertise and capacity to convey the large volume of IR and their myriad of implications.

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Section: Discussionmentioning

confidence: 99%

Section: Final Version Of Da: Genomics Advisermentioning

confidence: 99%

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

et al. 2018

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“…Provision of information about secondary findings and elicitation of preferences are topics currently under investigation. For example, researchers from Canada have developed an interactive, online decision aid to help individuals undergoing sequencing to make choices about receiving secondary findings [19].…”

Section: Discussionmentioning

confidence: 99%

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

et al. 2018

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To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: 'sequencing benefits' knowledge (d = 0.12, 95%CI: -0.03,0.27), 'sequencing limitations' knowledge (d = 0.04, 95%CI: -0.13,0.21), expected personal benefits (d = -0.01, 95%CI: -0.26,0.23), and decisional conflict (d = 0.04, 95%CI: -0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.

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“…A number of web-based decision aids have been developed to support patients making genomic testing decisions, reduce decisional conflict and enhance the patient-provider communication in recent years [30,31]. The Genomics ADvISER was specifically developed to support patients' decisions about learning secondary findings [30] and is current being evaluated through a mixed methods randomised controlled trial [32].…”

Section: Issues Around Secondary Findingsmentioning

confidence: 99%

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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Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

Cited by 21 publications

References 38 publications

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

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

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