Factors influencing intention to undergo whole genome screening in future healthcare: A single-blind parallel-group randomised trial

Fisher, Alana; Bonner, Carissa; Biankin, Andrew V.; Juraskova, Ilona

doi:10.1016/j.ypmed.2012.08.008

Cited by 69 publications

(16 citation statements)

References 30 publications

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“…There is little guidance relating to the process and content of informed consent for whole genome sequencing (WGS) and whole exome sequencing (WES) in the prenatal setting or the means by which results should be reported back to families . Despite uncertainties, sequencing technologies are being introduced to clinical practice, and reduction in cost is focusing the need to evaluate the balance of potential benefits and harms for patients undergoing prenatal genetic diagnosis . A significant barrier to the integration of WES/WGS into clinical care involves the management of incidental findings (results that are not related to the patient's clinical indication for testing) .…”

Section: Introductionmentioning

confidence: 99%

“…9 Despite uncertainties, sequencing technologies are being introduced to clinical practice, and reduction in cost is focusing the need to evaluate the balance of potential benefits and harms for patients undergoing prenatal genetic diagnosis. 10 A significant barrier to the integration of WES/ WGS into clinical care involves the management of incidental findings (results that are not related to the patient's clinical indication for testing). 9 The issue is compounded by the biological time frame of pregnancy, which creates a sense of time pressure.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

et al. 2016

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Prenatal consent for whole exome sequencing is not a 'perfect' process, but consent takers should be fully educated regarding the test. PRGs highlighted issues involving access to results, feeling that women want to know all information. PRGs also felt that patients want reinterpretation of results over time, whilst CPs felt that interpretation should be performed at the point of testing only. © 2016 John Wiley & Sons, Ltd.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

et al. 2016

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“…This theory has been used to identify the predictors of a range of health behaviors, including uptake of whole genome screening [33, 34]. The theory was developed to address the cognitive processes of individuals that mediate the effect of persuasive communications on behavioral change, through the identification of two independent appraisal processes: threat and coping appraisals.…”

Section: Methodsmentioning

confidence: 99%

“…Participants will be asked to rate their agreement from ‘strongly disagree’ (1) to ‘strongly agree’ (5) with statements such as ‘I am confident I can receive my genomic testing result even if’…‘my family did not want me to, I had to communicate the results to my family’ [34]. …”

Section: Methodsmentioning

confidence: 99%

“…Uncertainty avoidance – will be assessed using the eight-item Attitudes Towards Uncertainty scale [36], which has previously demonstrated high internal reliability [34]. The eight items are measured on a five-point scale ranging from ‘strongly disagree’ (1) to ‘strongly agree’ (5), with higher scores indicating a more negative attitude towards uncertainty.…”

Section: Methodsmentioning

confidence: 99%

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Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study

et al. 2017

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BackgroundThe ‘common variant, common disease’ model predicts that a significant component of hereditary breast cancer unexplained by pathogenic variants in moderate or high-penetrance genes is due to the cumulative effect of common risk variants in DNA (polygenic risk). Assessing a woman’s breast cancer risk by testing for common risk variants can provide useful information for women who would otherwise receive uninformative results by traditional monogenic testing. Despite increasing support for the utility of common risk variants in hereditary breast cancer, research findings have not yet been integrated into clinical practice. Translational research is therefore critical to ensure results are effectively communicated, and that women do not experience undue adverse psychological outcomes.MethodsIn this prospective study, 400 women with a personal and/or high risk family history of breast cancer will be recruited from six familial cancer centers (FCCs) in Australia. Eligible women will be invited to attend a FCC and receive their personal polygenic risk result for breast cancer. Genetic health professionals participating in the study will receive training on the return of polygenic risk information and a training manual and visual aids will be developed to facilitate patient communication. Participants will complete up to three self-administered questionnaires over a 12-months period to assess the short-and long-term psychological and behavioral outcomes of receiving or not receiving their personal polygenic risk result.DiscussionThis is the world’s first study to assess the psychological and behavioral impact of offering polygenic risk information to women from families at high risk of breast cancer. Findings from this research will provide the basis for the development of a new service model to provide polygenic risk information in familial cancer clinics.Trial registrationThe study was retrospectively registered on 27th April 2017 with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12617000594325; clinical trial URL: https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=372743).Electronic supplementary materialThe online version of this article (doi:10.1186/s12885-017-3485-0) contains supplementary material, which is available to authorized users.

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Psychological predictors of advanced cancer patients’ preferences for return of results from comprehensive tumor genomic profiling

Meiser

Butow

Davies

et al. 2021

American J of Med Genetics Pt A

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This study assessed the psychological predictors of preferences for return of comprehensive tumor genomic profiling (CTGP) results in patients with advanced cancers, enrolled in the Molecular Screening and Therapeutics Program. Patients completed a questionnaire prior to undergoing CTGP. Of the 1434 who completed a questionnaire, 96% would like to receive results that can guide treatment for their cancer, and preference for receiving this type of result was associated with lower tolerance of uncertainty. Sixty-four percent would like to receive results that cannot guide treatment, and lower tolerance of uncertainty, self-efficacy, and perceived importance were associated with this preference. Fifty-nine percent would like to receive variants of unknown significance, which was associated with lower tolerance of uncertainty, higher self-efficacy, and perceived importance. Eighty-six percent wanted to receive germline results that could inform family risk. This was associated with higher self-efficacy, perceived importance, and perceived susceptibility. Although most patients wanted to receive all types of results, given the differing patient preferences regarding the return of results depending on the utility of the different types of results, it appears critical to safeguard patient understanding of result utility to achieve informed patient choices. This should be accompanied by appropriate consent processes.

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Factors influencing intention to undergo whole genome screening in future healthcare: A single-blind parallel-group randomised trial

Cited by 69 publications

References 30 publications

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives

Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study

Psychological predictors of advanced cancer patients’ preferences for return of results from comprehensive tumor genomic profiling

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