An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia

Chin Leong Sia,Mallika Venkatramani,Veronique Kiak-Mien Tan,Benita Kiat-Tee Tan,Joanne Ngeow,Si Ming Fung,Jianbang Chiang,Jeanette Yuen,Eliza Courtney,Tarryn Shaw,Shao-Tzu Li

doi:10.1186/s13053-020-00154-x

Abstract

IntroductionIdentification of one’s status as a BRCA1/2 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 BRCA1/2 pathogenic variant carriers in Asia to inform for the design of educational materials to support risk management decision-making.MethodsSemi-structured in-depth interviews were conducted with two male and 22 female English-speaking BRCA1/2 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.ResultsFour 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.DiscussionParticipants 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.

Highlights

Identification of one’s status as a BRCA1/2 pathogenic variant carrier often marks the start of navigating challenging decisions related to cancer risk management and result disclosure
Participants Male and female BRCA1/2 Pathogenic variant/ likely pathogenic variant (PV/LPV) carriers who met the following criteria were included in the study [1]: English-speaking [2]; aged 25 and above; and [3] received genetic counselling through the Cancer Genetics Service (CGS) of the National Cancer Centre Singapore (NCCS)
Participants One hundred and thirty-nine eligible BRCA1/2 PV/LPV carriers were invited to participate in the interview

Summary

Introduction

Identification of one’s status as a BRCA1/2 pathogenic variant carrier often marks the start of navigating challenging decisions related to cancer risk management and result disclosure. Monoallelic PV/LPV carriers need to consider their options for screening, chemoprevention, and RR surgery [8, 9] proven to reduce cancer risk and overall cancer mortality [10, 11]. They are faced with the task of communicating their genetic test (GT) result to at-risk relatives, with challenges that differ by age, gender, and life stage [12,13,14]

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