Public health genomics · 2026
Optimizing Reporting and Outreach for Surveillance and Risk-Reducing Surgeries for Cancer Genetic Predisposition: Findings of a Workshop Organized by the International Cascade Consortium.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Citaku-Qerimi Bardha, Yttring Hanna, Andersson Sofia E, Ausems Margreet G E M, Barnoy Sivia, Caiata-Zufferey Maria, Cragun Deborah, Dagan Efrat, Dean Marleah, Ellis Katrina R, Godino Lea, Hajdarevic Senada, Heyman Ylva, Kim Sue, Menko Fred H, Pedrazzani Carla, Petersen Helle V, Phillips Amicia, Pusa Susanna, Ricker Charité N, Rosén Anna, Underhill Meghan, Ganschow Pamela, Stoffel Elena M, Evans D Gareth, Ngeow Joanne, Pal Tuya, Hampel Heather, Katapodi Maria C
Аннотация
INTRODUCTION: Improving access to genetic testing has increased the number of individuals identified with cancer genetic predisposition. Hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are key examples of high-risk hereditary cancer syndromes. Ensuring that carriers of germline pathogenic/likely pathogenic variants (GPVs) receive evidence-based risk counseling, surveillance and risk-reducing interventions remains a global challenge. Variations in implementation and reporting of international guidelines across healthcare systems contribute to this problem.
METHODS: An international workshop on cancer genetic care, held from March 12 to March 15, 2025, in Switzerland, brought together 40 experts on this topic from 10 countries. The workshop combined evidence-based presentations with expert-led discussions and considered novel strategies, which were synthesized in key discussion points.
RESULTS: Participants highlighted major inconsistencies in reporting age of initiation and uptake of surveillance, follow-up intervals, and uptake of risk-reducing interventions for carriers of GPVs associated with genetic predisposition to cancer between and within countries. These differences are due to variations in available technology, insurance coverage, and sociocultural attitudes that shape national clinical guidelines. Participants emphasized the need for a standardized approach for reporting surveillance practices, including clear definitions of gene-specific recommendations, timing of follow-up, and alternatives when ideal resources are limited. In addition to these reporting issues, participants also noted the need for sustained outreach for lifelong follow-up surveillance of GPV carriers through digital as well as low-tech approaches.
CONCLUSION: Standardized reporting of surveillance and risk-reducing practices across countries may improve the quality and comparability of data in cancer genetic predisposition, reveal gaps in genetic care, and inform outreach strategies for engaging GPV carriers in lifelong cancer risk management.
METHODS: An international workshop on cancer genetic care, held from March 12 to March 15, 2025, in Switzerland, brought together 40 experts on this topic from 10 countries. The workshop combined evidence-based presentations with expert-led discussions and considered novel strategies, which were synthesized in key discussion points.
RESULTS: Participants highlighted major inconsistencies in reporting age of initiation and uptake of surveillance, follow-up intervals, and uptake of risk-reducing interventions for carriers of GPVs associated with genetic predisposition to cancer between and within countries. These differences are due to variations in available technology, insurance coverage, and sociocultural attitudes that shape national clinical guidelines. Participants emphasized the need for a standardized approach for reporting surveillance practices, including clear definitions of gene-specific recommendations, timing of follow-up, and alternatives when ideal resources are limited. In addition to these reporting issues, participants also noted the need for sustained outreach for lifelong follow-up surveillance of GPV carriers through digital as well as low-tech approaches.
CONCLUSION: Standardized reporting of surveillance and risk-reducing practices across countries may improve the quality and comparability of data in cancer genetic predisposition, reveal gaps in genetic care, and inform outreach strategies for engaging GPV carriers in lifelong cancer risk management.