An in-depth exploration of the post-test informational needs of and pathogenic variant carriers in Asia.

Introduction: Identification of one's status as a pathogenic variant carrier often marks the start of navigating challenging decisions related to cancer risk management and result disclosure. Carriers report unmet informational needs, but studies have yet to explore the specific aspects of and how best to fulfill these needs. This study aims to explore the informational needs of pathogenic variant carriers in Asia to inform for the design of educational materials to support risk management decision-making.

Methods: Semi-structured in-depth interviews were conducted with two male and 22 female English-speaking pathogenic variant carriers, aged 29-66 years, identified through the Cancer Genetics Service at the National Cancer Centre Singapore. A grounded theory approach with thematic analysis was undertaken to extract dominant themes.

Results: Four themes were identified: (i) proactive online information seeking behaviors (ii) personalized informational needs; (iii) challenges in sharing the results; and (iv) lack of genetic awareness.

Discussion: Participants highlight challenges with sharing their result arising from significant post-result informational needs, which have manifested into proactive online information-seeking behaviors. They desire for an online source of information, where content is personalized, reliable and local. Participants foresee the potential of an online resource to raise genetic awareness. This suggests the use of a culturally tailored online-based genetics resource, to promote result disclosure, empower risk-management decisions and raise genetic literacy rates.

Supplementary Information: accompanies this paper at 10.1186/s13053-020-00154-x.