Research participants’ experiences with return of genetic research results and preferences for web‐based alternatives

Gaieski, Jill B.; Patrick‐Miller, Linda; Egleston, Brian L.; Maxwell, Kara N.; Walser, Sarah A.; DiGiovanni, Laura; Brower, Jamie; Fetzer, Dominique; Ganzak, Amanda; McKenna, Danielle; Long, Jessica M.; Powers, Jacquelyn; Domchek, Susan M.; Bradbury, Angela R.

doi:10.1002/mgg3.898

Cited by 26 publications

(30 citation statements)

References 39 publications

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“…Research participants expect feedback on the progress of the study and any available results (Gaieski et al, 2019;McGowan et al, 2018;Tindana et al, 2020). They have a right to their results; however, they too have preferences in regard to return of results that should be sought and respected during the consenting process (Gornick et al, 2017;Kullo et al, 2018;Ryan et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Researchers’ perspectives on return of individual genetics results to research participants: a qualitative study

et al. 2021

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Genetic results are usually not returned to research participants in Uganda despite their increased demand. We report on researchers' perceptions and experiences of return of individual genetic research results. The study involved 15 in-depth interviews of investigators involved in genetics and/or genomic research. A thematic approach was used to interpret the results. The four themes that emerged from the data were the need for return of individual results including incidental findings, community engagement and the consenting process, implications and challenges to return of individual results. While researchers are willing to return clinically significant genetic results to research participants, they remain unsure of how this should be implemented. Suggestions to aid implementation of return of results included reconsenting of participants before receiving individual genetic results and increasing access to genetic counseling services. Community engagement to determine community perceptions and individual preferences for the return of results, and also prepare participants to safely receive results emerged as another way to support return of results. Researchers have a positive attitude toward the return of clinically significant genetic results to research participants. There is need to develop national guidance on genetic research and also build capacity for clinical genetics and genetic counseling.

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Section: Discussionmentioning

confidence: 99%

Researchers’ perspectives on return of individual genetics results to research participants: a qualitative study

et al. 2021

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“…Interventions that support mutation carriers during the disclosure of genetic test results can reduce their psychological distress and provide relatives with accurate and credible information about cascade genetic testing. Technology-enabled education is not inferior to face-to-face genetic consultations [ 23 , 24 , 25 ], while it increases access to services and cost-effectiveness [ 26 , 27 , 28 ].…”

Section: Introductionmentioning

confidence: 99%

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Baroutsou

Underhill-Blazey

Appenzeller-Herzog

et al. 2021

Cancers

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Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC (n = 5); both HBOC and LS (n = 4); LS (n = 3); or ovarian cancer (n = 2). All protocols (n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids (n = 4), building communication skills (n = 4), or motivational interviewing (n = 1). The overall effect size for family communication was small (g = 0.085) and not significant (p = 0.344), while for cascade testing, it was small (g = 0.169) but significant (p = 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.

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“…Education of health professionals will be crucial to ensure an informed health professional workforce. Emerging research studies are examining additional strategies to overcome feasibility and access issues, such as telephone genetic counselling [41,42]. A research study is examining various delivery models for the provision of predictive genetic testing to the public in Europe and the US, Canada, Australia and New Zealand [43].…”

Section: Discussionmentioning

confidence: 99%

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

et al. 2020

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Background: Genomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies. We aimed to engage with members of the public, who are important stakeholders in this process, to further inform program development and other implementation outcomes such as acceptability and appropriateness. Methods: Semi-structured interviews were undertaken with 30 participants (aged 24-69 years, 50% female) recruited from a pilot trial in which they received personalised genomic risk information for melanoma. We explored participants' views and attitudes towards offering general personal genomic risk information to the broader population. The data were analysed thematically. Results: Two overarching themes relevant to implementation considerations were identified. Firstly, participants' preferences for accepting an offer of genomic risk information were based on family history, disease incidence and the possibility of prevention. Secondly, participants felt that the processes for offering risk information should be based on individual preferences, triaged according to risk and be supported by a health professional trained in genomics. Conclusions: Participants felt that offering personal genomic risk information to the general population to inform prevention and early detection recommendations is acceptable, particularly for common, complex conditions such as cancer. Understanding participants' preferences for receiving genomic risk information will assist with communication strategies and health workforce planning. We anticipate that these findings will contribute to the development of implementation strategies for incorporating genomic risk information into routine clinical practice.

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Research participants’ experiences with return of genetic research results and preferences for web‐based alternatives

Cited by 26 publications

References 39 publications

Researchers’ perspectives on return of individual genetics results to research participants: a qualitative study

Researchers’ perspectives on return of individual genetics results to research participants: a qualitative study

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Implementation considerations for offering personal genomic risk information to the public: a qualitative study

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