scholarly journals 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

10.2196/26264 ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. e26264
Author(s):  
Sue Kim ◽  
Monica Aceti ◽  
Vasiliki Baroutsou ◽  
Nicole Bürki ◽  
Maria Caiata-Zufferey ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Family Communication ◽  
Digital Health ◽  
Health Intervention ◽  
Cancer Predisposition ◽  
Care Providers ◽  
Breast And Ovarian Cancer ◽  
Mutation Carriers

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

scholarly journals 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 (Preprint)

2020 ◽  
Author(s):  
Sue Kim ◽  
Monica Aceti ◽  
Vasiliki Baroutsou ◽  
Nicole Bürki ◽  
Maria Caiata-Zufferey ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Family Communication ◽  
Digital Health ◽  
Health Intervention ◽  
Cancer Predisposition ◽  
Care Providers ◽  
Breast And Ovarian Cancer ◽  
Mutation Carriers

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. CLINICALTRIAL ClinicalTrials.gov NCT04214210; https://clinicaltrials.gov/ct2/show/NCT04214210 and CRiS KCT0005643; https://cris.nih.go.kr/cris/ INTERNATIONAL REGISTERED REPORT PRR1-10.2196/26264

scholarly journals Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program

2021 ◽  
Vol 11 (6) ◽  
pp. 543
Author(s):  
Anna DiNucci ◽  
Nora B. Henrikson ◽  
M. Cabell Jonas ◽  
Sundeep Basra ◽  
Paula Blasi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health Care Providers ◽  
Screening Program ◽  
Qualitative Interviews ◽  
Care Providers ◽  
Genetic Privacy ◽  
Program Outcomes ◽  
Cascade Testing ◽  
Program Costs

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. “Traceback” cascade testing —outreach to potential probands and relatives—is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program’s feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program’s feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.

scholarly journals Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 338 ◽  
Author(s):  
Matthew Richardson ◽  
Hae Jung Min ◽  
Quan Hong ◽  
Katie Compton ◽  
Sze Wing Mung ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Health Care ◽  
Genetic Testing ◽  
Population Based ◽  
Gene Panel ◽  
Wait Times ◽  
Genetic Counsellor ◽  
Care Providers ◽  
Cancer Genetic ◽  
Breast And Ovarian Cancer

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

scholarly journals Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline

2020 ◽  
Vol 38 (11) ◽  
pp. 1222-1245 ◽  
Author(s):  
Panagiotis A. Konstantinopoulos ◽  
Barbara Norquist ◽  
Christina Lacchetti ◽  
Deborah Armstrong ◽  
Rachel N. Grisham ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Epithelial Ovarian Cancer ◽  
Health Care Providers ◽  
Systematic Reviews ◽  
Clinical Decision Making ◽  
Cancer Susceptibility ◽  
Care Providers ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes

PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer based on available evidence and expert consensus. METHODS A literature search and prospectively defined study selection criteria sought systematic reviews, meta-analyses, randomized controlled trials (RCTs), and comparative observational studies published from 2007 through 2019. Guideline recommendations were based on the review of the evidence. RESULTS The systematic review identified 19 eligible studies. The evidence consisted of systematic reviews of observational data, consensus guidelines, and RCTs. RECOMMENDATIONS All women diagnosed with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer susceptibility genes. In women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant, somatic tumor testing for BRCA1/2 pathogenic or likely pathogenic variants should be performed. Women with identified germline or somatic pathogenic or likely pathogenic variants in BRCA1/2 genes should be offered treatments that are US Food and Drug Administration (FDA) approved in the upfront and the recurrent setting. Women diagnosed with clear cell, endometrioid, or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). Women with identified dMMR should be offered FDA-approved treatment based on these results. Genetic evaluations should be conducted in conjunction with health care providers familiar with the diagnosis and management of hereditary cancer. First- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing. Clinical decision making should not be made based on a variant of uncertain significance. Women with epithelial ovarian cancer should have testing at the time of diagnosis.

scholarly journals Clinical Considerations ofBRCA1- andBRCA2-Mutation Carriers: A Review

2011 ◽  
Vol 2011 ◽  
pp. 1-11 ◽  
Author(s):  
O. Bougie ◽  
J. I. Weberpals
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Significant Risk ◽  
Surgical Prophylaxis ◽  
Breast And Ovarian Cancer ◽  
Screening Guidelines ◽  
Mutation Carriers ◽  
Clinical Considerations

Individuals who carry an inherited mutation in the breast cancer 1 (BRCA1) andBRCA2genes have a significant risk of developing breast and ovarian cancer over the course of their lifetime. As a result, there are important considerations for the clinician in the counseling, followup and management of mutation carriers. This review outlines salient aspects in the approach to patients at high risk of developing breast and ovarian cancer, including criteria for genetic testing, screening guidelines, surgical prophylaxis, and chemoprevention.

Genetic Testing for Breast and Ovarian Cancer Predisposition: Cancer Burden and Responsibility

2002 ◽  
Vol 7 (4) ◽  
pp. 469-484 ◽  
Author(s):  
Claire Foster ◽  
Maggie Watson ◽  
Clare Moynihan ◽  
Audrey Ardern-jones ◽  
Rosalind Eeles
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Predisposition ◽  
Breast And Ovarian Cancer ◽  
Cancer Burden

scholarly journals 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

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 925
Author(s):  
Vasiliki Baroutsou ◽  
Meghan L. Underhill-Blazey ◽  
Christian Appenzeller-Herzog ◽  
Maria C. Katapodi
Keyword(s):  
Systematic Review ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Family Communication ◽  
Meta Analysis ◽  
Decision Aids ◽  
Cancer Predisposition ◽  
Cascade Screening ◽  
Screening And Prevention

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.

Engagement patterns of users and providers: a study of messaging on app usage in a smartphone app for the treatment of eating disorders (Preprint)

2020 ◽  
Author(s):  
Jane Kim ◽  
Jisung Park ◽  
Jenna Tregarthen
Keyword(s):  
Eating Disorders ◽  
Health Care Providers ◽  
Digital Health ◽  
Communication Styles ◽  
Care Providers ◽  
Digital Tool ◽  
Self Monitoring ◽  
Multiple Phenotypes ◽  
Monitoring Tools ◽  
Level Data

BACKGROUND By offering the ability to immediately communicate with health care providers, digital health apps may significantly bolster the therapeutic relationship. Increasing opportunities of engagement with a digital tool, self-monitoring tools show confer promise in allowing patients to go through periods in between in-clinic visits. Little is known however, regarding the usage of the apps and whether communication between providers and app users in fact encourages usage. OBJECTIVE The objective of this study was to investigate the users of an app for eating disorders and summarize the characteristics of usage, characteristics of communication (i.e. messages sent and received), and assess whether the degree of communication and the degree of app usage (of the main features of the app precluding provider contact) were related. METHODS Users of an app for eating disorders (Tregarthen et al) consented for their de-identified, aggregate level data to be utilized for research. Records of five hundred users were randomly sampled from May 2017 to July 2017. All users in the sampled cohort were linked to a clinician. Raw data included 97,732 observations of meal logs submitted via app across 500 individuals. RESULTS Our data demonstrated a high degree of variability across users in their engagement patterns of the app. Receiving more messages on average had a greater effect on usage than sending messages, implying that being checked in on by clinicians may encourage users to engage more with their app. Data also demonstrated that there were multiple phenotypes in terms of preferences regarding communication – while a portion of users seemed to benefit, a large minority did not demonstrate a change in usage based on the frequency of communication. CONCLUSIONS Understanding usage phenotypes can be instrumental in helping clinician and apps understand who their user is. This work demonstrates that variability among the user population in terms of usage and communication styles, as well as usage and behavior. This information can ultimately be leveraged for guiding effective treatment delivery.

Determinants of serum adiponectin levels: a cross-sectional study

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Azar Sattarinezhad ◽  
Akbar Rasekhi Kazerouni ◽  
Gholamhossein Ranjbar Omrani ◽  
Mesbah Shams
Keyword(s):  
Ovarian Cancer ◽  
Germ Line ◽  
Brca Mutation ◽  
Bilateral Mastectomy ◽  
Ovarian Cancer Risk ◽  
Breast And Ovarian Cancer ◽  
Double Blind ◽  
Cross Sectional ◽  
Mutation Carriers

Abstract Objectives To review non-surgical prevention strategies in women with hereditary breast and ovarian cancer syndromes. Content Women with a gBRCA1 or 2 mutations face a high cumulative breast and ovarian cancer risk. While bilateral mastectomy (PBM) and bilateral salpingo-oophrectomy (PBSO) profoundly reduce the respective cancer risks, they are also associated with considerable side effects. There is therefore an urgent need for alternative and non-surgical risk reduction options. Tamoxifen and aromatase inhibitors have both been evaluated in secondary prevention, but their benefit in primary prevention is currently unknown in BRCA mutation carriers. In addition, their use is compromised by their side effect profile which makes them less appealing for a use in chemoprevention. Summary and outlook Denosumab is a well-tolerated osteoprotective drug, which has been demonstrated to have a potential preventive effect particularly in BRCA1-deficient models in vitro. The prospectively randomized double-blind BRCA-P trial is currently investigating the preventative effect of denosumab in healthy BRCA1 germ line mutation carriers.

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