Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience

Frontiers in Genetics

Genetics

Sue Kim¹  Maria Caiata-Zufferey²  Maria C. Katapodi³  Sivia Barnoy⁴  Efrat Dagan⁵ 

[1] College of Nursing, Yonsei University, Seoul, South Korea;Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of Southern Switzerland, Manno, Switzerland;Department of Clinical Research, University of Basel, Basel, Switzerland;Department of Nursing, Tel-Aviv University, Tel-Aviv, Israel;The Cheryl Spencer Department of Nursing, University of Haifa, Haifa, Israel;

关键词: cascade genetic testing;    genetic health disparities;    HBOC;    Lynch syndrome;    national healthcare system;    patient-mediated dissemination;    provider-mediated dissemination;    public health genetic screening;   

DOI  :  10.3389/fgene.2023.1109431

 received in 2022-11-27, accepted in 2023-04-17,  发布年份 2023

来源: Frontiers

【 摘 要 】

Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel.Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort.Results: Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing.Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage.

【 授权许可】

Unknown   
Copyright © 2023 Barnoy, Dagan, Kim, Caiata-Zufferey, Katapodi, the CASCADE and the K-CASCADE Consortia.