How to inform at‐risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population

Heuvel, Lieke M van den; Stemkens, Daphne; Zelst-Stams, Wendy A. G. van; Willeboordse, Floor; Christiaans, Imke

doi:10.1002/jgc4.1206

Cited by 19 publications

(21 citation statements)

References 31 publications

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“…In this question, we purposefully chose to exclude a pre-defined response option with "a personal meeting" since in clinical practice, personal counselling would still require a first contact (by letter or phone) in which the reason for the consultation must be given. Previous studies show that "a personal meeting" is reported as the most attractive option if such a response alternative is offered [37].…”

Section: Preferred Mode Of Communicationmentioning

confidence: 99%

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Andersson

Hawranek

Öfverholm

et al. 2020

Hered Cancer Clin Pract

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Background Targeted surveillance of at-risk individuals in families with increased risk of hereditary cancer is an effective prevention strategy if relatives are identified, informed and enrolled in screening programs. Despite the potential benefits, many eligible at-risk relatives remain uninformed of their cancer risk. This study describes the general public’s opinion on disclosure of hereditary colorectal cancer (CRC) risk information, as well as preferences on the source and the mode of information. Methods A random sample of the general public was assessed through a Swedish citizen web-panel. Respondents were presented with scenarios of being an at-risk relative in a family that had an estimated increased hereditary risk of CRC; either 10% (moderate) or 70% (high) lifetime risk. A colonoscopy was presented as a preventive measure. Results were analysed to identify significant differences between groups using the Pearson’s chi-square (χ2) test. Results Of 1800 invited participants, 977 completed the survey (54%). In the moderate and high-risk scenarios, 89.2 and 90.6% respectively, would like to receive information about a potential hereditary risk of CRC (χ2, p = .755). The desire to be informed was higher among women (91.5%) than men (87.0%, χ2, p = .044). No significant differences were found when comparing different age groups, educational levels, place of residence and having children or not. The preferred source of risk information was a healthcare professional in both moderate and high-risk scenarios (80.1 and 75.5%). However, 18.1 and 20.1% respectively would prefer to be informed by a family member. Assuming that healthcare professionals disclosed the information, the favoured mode of information was letter and phone (38.4 and 33.2%). Conclusions In this study a majority of respondents wanted to be informed about a potential hereditary risk of CRC and preferred healthcare professionals to communicate this information. The two presented levels of CRC lifetime risk did not significantly affect the interest in being informed. Our data offer insights into the needs and preferences of the Swedish population, providing a rationale for developing complementary healthcare-assisted communication pathways to realise the full potential of targeted prevention of hereditary CRC.

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Section: Preferred Mode Of Communicationmentioning

confidence: 99%

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Andersson

Hawranek

Öfverholm

et al. 2020

Hered Cancer Clin Pract

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“…Privacy laws worldwide prohibit healthcare providers from revealing genetic information to anyone except the tested individual. The responsibility to share genetic test results lies almost exclusively with the mutation carrier, who has the right not to disclose this information [ 17 , 18 ]. This communication strategy has significant limitations in both ensuring contact with the appropriate people and the transmission of accurate information [ 19 , 20 ].…”

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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“…The potential benefits of genetic testing are not being effectively communicated through family networks, leading to more than 50% of at-risk individuals not using genetic services and not receiving important information from a credible source [21][22][23]. Second-degree and male relatives, those living further away, and those with an estranged relationship with the mutation carrier are most likely not to be informed about genetic testing [24,25]. Despite these difficulties, a family-based approach in communicating hereditary cancer risk is advantageous because it may reach relatives through the social bonds and functions already existing within the family network, and it is not limited to those in contact with the health care system [26].…”

Section: Introductionmentioning

confidence: 99%

Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study

Kim¹,

Aceti²,

Baroutsou³

et al. 2021

JMIR Res Protoc

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Background In hereditary breast and ovarian cancer (HBOC), family communication of genetic test results is essential for cascade genetic screening, that is, identifying and testing blood relatives of known mutation carriers to determine whether they also carry the pathogenic variant, and to propose preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology can facilitate communication and genetic education within HBOC families. Objective The aims of this study are to develop the K-CASCADE (Korean–Cancer Predisposition Cascade Genetic Testing) cohort in Korea by expanding an infrastructure developed by the CASCADE (Cancer Predisposition Cascade Genetic Testing) Consortium in Switzerland; develop a digital health intervention to support the communication of cancer predisposition for Swiss and Korean HBOC families, based on linguistic and cultural adaptation of the Family Gene Toolkit; evaluate its efficacy on primary (family communication of genetic results and cascade testing) and secondary (psychological distress, genetic literacy, active coping, and decision making) outcomes; and explore its translatability using the reach, effectiveness, adoption, implementation, and maintenance framework. Methods The digital health intervention will be available in French, German, Italian, Korean, and English and can be accessed via the web, mobile phone, or tablet (ie, device-agnostic). K-CASCADE cohort of Korean HBOC mutation carriers and relatives will be based on the CASCADE infrastructure. Narrative data collected through individual interviews or mini focus groups from 20 to 24 HBOC family members per linguistic region and 6-10 health care providers involved in genetic services will identify the local cultures and context, and inform the content of the tailored messages. The efficacy of the digital health intervention against a comparison website will be assessed in a randomized trial with 104 HBOC mutation carriers (52 in each study arm). The translatability of the digital health intervention will be assessed using survey data collected from HBOC families and health care providers. Results Funding was received in October 2019. It is projected that data collection will be completed by January 2023 and results will be published in fall 2023. Conclusions This study addresses the continuum of translational research, from developing an international research infrastructure and adapting an existing digital health intervention to testing its efficacy in a randomized controlled trial and exploring its translatability using an established framework. Adapting existing interventions, rather than developing new ones, takes advantage of previous valid experiences without duplicating efforts. Culturally sensitive web-based interventions that enhance family communication and understanding of genetic cancer risk are timely. This collaboration creates a research infrastructure between Switzerland and Korea that can be scaled up to cover other hereditary cancer syndromes. Trial Registration ClinicalTrials.gov NCT04214210; https://clinicaltrials.gov/ct2/show/NCT04214210 and CRiS KCT0005643; https://cris.nih.go.kr/cris/ International Registered Report Identifier (IRRID) PRR1-10.2196/26264

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How to inform at‐risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 19 publications

References 31 publications

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

Public support for healthcare-mediated disclosure of hereditary cancer risk information: Results from a population-based survey in Sweden

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

Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study

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