Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

Katapodi, Maria C.; Viassolo, Valeria; Zufferey, Maria Caiata; Nikolaidis, Christos; Bührer-Landolt, Rosmarie; Bürki, Nicole; Graffeo, Rossella; Horváth, Hajnalka; Kurzeder, Christian; Rabaglio, Manuela; Scharfe, Michael; Urech, Corinne; Erlanger, Tobias E.; Probst‐Hensch, Nicole; Heinimann, Karl; Heinzelmann‐Schwarz, Viola; Pagani, Olivia; Chappuis, Pierre O.

doi:10.2196/resprot.8138

Cited by 30 publications

(38 citation statements)

References 88 publications

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“…Streamlining the process to also test at-risk family members for P/LP variants (i.e. cascade testing) can further amplify identification of individuals with HBC [65]. Implementation of navigation programs is another strategy that has shown promise in the identification of HBC, including providing guidance about coverage and need-based financial opportunities available, which can be a complicated process [66,67,68].…”

Section: Strategies To Increase Uptake Of Genetic Counseling and Testmentioning

confidence: 99%

Strategies to enhance identification of hereditary breast cancer gene carriers

Reid

Spalluto

Pal

2020

Expert Review of Molecular Diagnostics

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Section: Strategies To Increase Uptake Of Genetic Counseling and Testmentioning

confidence: 99%

Strategies to enhance identification of hereditary breast cancer gene carriers

Reid

Spalluto

Pal

2020

Expert Review of Molecular Diagnostics

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“…The CASCADE study has created a strong and supportive network involving genetic clinics for HBOC and LS in three linguistic regions of Switzerland, enabling relatives to use local genetic services. The publication of the study protocol addressed important barriers to cascade screening, such as identification of mutation-positive individuals and contact of relatives, and harmonization of recruitment procedures across clinics [16]. Evaluation of the cost-effectiveness of cascade screening for HBOC and LS is a priority goal that may facilitate discussions with health insurance agencies to increase coverage for testing, surveillance, and prevention procedures.…”

Section: Conclusion and Relevance For The Cascade Studymentioning

confidence: 99%

“…Relatives who have inherited a pathogenic variant can benefit from high-risk management starting at age 25–30 or 10 years before the earliest age of cancer in the family [14, 15]. Based on epidemiological estimates, if cascade screening was applied only to first- and second-degree relatives in Switzerland, about 750–1,370 new breast, colorectal, ovarian, and endometrial cancer cases could be prevented annually through intensive screening and/or prophylactic surgery [16]. …”

Section: Introduction and Workhop Objectivesmentioning

confidence: 99%

“…In 2016, the CASCADE study received funding from the University of Basel, Office of the Vice Provost for Research, to support its activities and pilot test the feasibility and acceptability of identifying mutation-positive individuals from clinic-based records and requesting that they recruit their relatives in the study. The goal of the CASCADE study is to develop a cohort enriched for hereditary cancer risk, including mutation-positive individuals, untested biological relatives, and true negative relatives, in order to study the outcomes of cancer screening and risk reduction methods, behavioral and psychosocial outcomes, gene-environment interactions, and to facilitate translation of research findings into clinical practice [16]. Preliminary data indicated a response rate of 53% among mutation-positive individuals, 100% willingness among responding probands and relatives to participate in the cohort, and 44% willingness of mutation-positive individuals to invite relatives in the study.…”

Section: Introduction and Workhop Objectivesmentioning

confidence: 99%

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Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop

Nikolaidis

Ming

Pedrazzani

et al. 2018

Public Health Genomics

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Background: An international workshop on cancer predisposition cascade genetic screening for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) took place in Switzerland, with leading researchers and clinicians in cascade screening and hereditary cancer from different disciplines. The purpose of the workshop was to enhance the implementation of cascade genetic screening in Switzerland. Participants discussed the challenges and opportunities associated with cascade screening for HBOC and LS in Switzerland (CASCADE study); family implications and the need for family-based interventions; the need to evaluate the cost-effectiveness of cascade genetic screening; and interprofessional collaboration needed to lead this initiative. Methods: The workshop aims were achieved through exchange of data and experiences from successful cascade screening programs in the Netherlands, Australia, and the state of Ohio, USA; Swiss-based studies and scientific experience that support cancer cascade screening in Switzerland; programs of research in psychosocial oncology and family-based studies; data from previous cost-effectiveness analyses of cascade genetic screening in the Netherlands and in Australia; and organizational experience from a large interprofessional collaborative. Scientific presentations were recorded and discussions were synthesized to present the workshop findings. Results: The key elements of successful implementation of cascade genetic screening are a supportive network of stakeholders and connection to complementary initiatives; sample size and recruitment of relatives; centralized organization of services; data-based cost-effectiveness analyses; transparent organization of the initiative; and continuous funding. Conclusions: This paper describes the processes and key findings of an international workshop on cancer predisposition cascade screening, which will guide the CASCADE study in Switzerland.

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“…Efforts to identify individuals with inherited cancer susceptibility have generally focused on first testing patients who have had cancer with subsequent testing of their unaffected at-risk relatives once a PV is found [ 30 – 32 ]. However, this strategy misses families in which there is no living, affected relative to test, and may be an important barrier to accessing genetic services.…”

Section: Introductionmentioning

confidence: 99%

Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

Kaphingst

Kohlmann

Chambers

et al. 2021

BMC Health Serv Res

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Background Advances in genetics and sequencing technologies are enabling the identification of more individuals with inherited cancer susceptibility who could benefit from tailored screening and prevention recommendations. While cancer family history information is used in primary care settings to identify unaffected patients who could benefit from a cancer genetics evaluation, this information is underutilized. System-level population health management strategies are needed to assist health care systems in identifying patients who may benefit from genetic services. In addition, because of the limited number of trained genetics specialists and increasing patient volume, the development of innovative and sustainable approaches to delivering cancer genetic services is essential. Methods We are conducting a randomized controlled trial, entitled Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE), to address these needs. The trial is comparing uptake of genetic counseling, uptake of genetic testing, and patient adherence to management recommendations for automated, patient-directed versus enhanced standard of care cancer genetics services delivery models. An algorithm-based system that utilizes structured cancer family history data available in the electronic health record (EHR) is used to identify unaffected patients who receive primary care at the study sites and meet current guidelines for cancer genetic testing. We are enrolling eligible patients at two healthcare systems (University of Utah Health and New York University Langone Health) through outreach to a randomly selected sample of 2780 eligible patients in the two sites, with 1:1 randomization to the genetic services delivery arms within sites. Study outcomes are assessed through genetics clinic records, EHR, and two follow-up questionnaires at 4 weeks and 12 months after last genetic counseling contactpre-test genetic counseling. Discussion BRIDGE is being conducted in two healthcare systems with different clinical structures and patient populations. Innovative aspects of the trial include a randomized comparison of a chatbot-based genetic services delivery model to standard of care, as well as identification of at-risk individuals through a sustainable EHR-based system. The findings from the BRIDGE trial will advance the state of the science in identification of unaffected patients with inherited cancer susceptibility and delivery of genetic services to those patients. Trial registration BRIDGE is registered as NCT03985852. The trial was registered on June 6, 2019 at clinicaltrials.gov.

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Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

Cited by 30 publications

References 88 publications

Strategies to enhance identification of hereditary breast cancer gene carriers

Strategies to enhance identification of hereditary breast cancer gene carriers

Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop

Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial

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