Privacy and utility of genetic testing among families with hereditary cancers living in three countries: The International Cascade Screening experience. Online panel.

Barnoy, S and Dagan, E and Kim, S and Caiata Zufferey, Maria and Katapodi, M (2022) Privacy and utility of genetic testing among families with hereditary cancers living in three countries: The International Cascade Screening experience. Online panel. In: ELSIcon2022: Innovating for a Just and Equitable Future, 31.5.2022 - 3.6.2022, New York.

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Background: Hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) are monogenic hereditary syndromes caused by pathogenic variants in autosomal dominant genes, such as BRCA1 or MLH2. A significant proportion (3%-25%) of common cancers, such as breast, ovarian, colorectal, and endometrial are due to these syndromes. Both syndromes are actionable, meaning that in most cases there are available cancer prevention and risk management options. Genetic testing identifies carriers of pathogenic variants (index cases) and the presence of the same pathogenic variant in their close relatives with almost 100% accuracy. Cascade genetic screening is the process of identifying cancer-free relatives of individuals diagnosed with HBOC or LS with the goal to promote primary and secondary cancer prevention. However, due to privacy laws, clinicians cannot approach directly at-risk relatives for cascade screening, rather they delegate a medical task, namely communicating hereditary cancer risk, to index cases and request that they advocate for the use of genetic services. The panel consists of members of an international consortium that conducts cascade genetic screening studies in Switzerland, Korea, and Israel, and together have recruited more than 700 families affected by HBOC or LS. The panel will compare and contrast ethical, legal and social issues encountered in the implementation of cascade screening in the three countries. Methods: The international consortium identifies HBOC and/or LS index cases and their relatives in each country, and examines on one hand index cases’ readiness to share genetic testing results with relatives, and on the other hand relatives’ decision-making process to undergo or forego cascade testing. Index cases are identified from oncology and genetic clinics in each country. Those who agree to participate are asked to provide information about their relatives and recruit as many as they want in the study. Data are collected with identical surveys in the three countries (quantitative data) and with semi-structured interview guides (qualitative data) in Switzerland and in Korea. The surveys assess factors associated with genetic testing (e.g., relationship with healthcare providers, insurance coverage and affordability of testing, readiness to share genetic information with relatives, perceived utility of genetic testing for oneself and relatives), and different psychosocial characteristics (e.g., quality of life). All study protocols have been approved by relevant Ethics Committees. The panel will present results obtained in the three countries and explore perceptions of privacy, autonomy, and utility of genetic testing, along with socio-legal and cultural barriers of accessing genetic services. Results: Using data from each country, the panel will present how different contextual factors such as legal frameworks and socio-cultural systems frame the interpretation of genetic testing results in terms of privacy and perceived usefulness of information at the individual, family, and healthcare system levels. - Privacy issues: Although genetic information is considered private in all three countries, there is variability in the implementation of legal regulations regarding protection of private genetic information, which affects transmission of genetic information within the healthcare system. - Autonomy issues: The intersection of autonomy with communication of genetic information within the family and within each healthcare system will be examined. Specific examples of communicating genetic information will be provided. - Perceived utility of genetic testing: Analysis of survey data from the three countries will be presented and will be supplemented with ongoing qualitative data from Switzerland and Korea. In-depth interviews suggest that the perceived value of genetic testing and receptiveness to testing results is largely linked to cultural notions of cancer stigma and social awareness of hereditary cancers. - Access barriers to genetic testing: Although all three countries have a national health insurance system and offer basic health insurance coverage for genetic testing, the extend of insurance coverage for relatives differs, which has implications for the scope of coverage and accessibility of services. Degree of relationship to the index case and Ashkenazi Jewish background are among the few issues that have a substantial impact on insurance coverage and likely affect disclosure of genetic testing results. Issues around organization of services will also be presented.

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