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

Abstract

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. 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. Methods Semi-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. 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.

Medical knowledge and information needs among women with pathogenic variants in moderate‐risk genes for hereditary breast cancer attending genetic counseling at an academic hospital in Germany—A qualitative approach

“…However, the findings may indicate that, in particular, young previvors who are struggling to find the right timing to get pregnant might also consider having an RRM, and do not feel sufficiently informed on the process. A need for information on risk‐reducing surgeries was also identified by studies of women with BRCA1/2 pathogenic variants (Dean et al., 2017; Lobb et al., 2004; Metcalfe et al., 2000; Yuen et al., 2020). Werner‐Lin conducted qualitative studies with young previvors carrying BRCA1/2 pathogenic variants (Werner‐Lin, 2008; Werner‐Lin et al, 2012).…”

“…Women at increased risk of hereditary breast cancer (BC) who have not yet been tested for pathogenic variants report information needs concerning associated cancer risks, risk-reducing surgeries, and supportive interventions, as well as the need to improve access to information (Grant et al, 2006;Iredale et al, 2003;Thewes et al, 2003), while the post-test information needs of women with BRCA1/2 pathogenic variants mostly concern the decision-making process regarding BC surveillance or risk-reducing surgery (Dean et al, 2017;Metcalfe et al, 2000;Yuen et al, 2020).…”

“…Only few studies on information needs focus on the post-test counseling situation for BRCA1/2 pathogenic variant carriers, and all of them identified an information need concerning risk-reducing surgeries. Yuen et al (2020) conducted in-depth interviews with BRCA1 and BRCA2 pathogenic variant carriers both affected and unaffected by a BRCA1/2-related cancer (OC, BC or prostate cancer) in Asia, and identified post-test information and support needs related to the decision-making process for choosing between breast surveillance and risk-reducing surgery. They observed proactive online information-seeking behavior among many participants due to a lack of sufficient information.…”

Male breast cancer: a Singapore perspective

“…Within our local cohort, only 5 of 57 patients (8.8%) underwent genetic testing and none tested positive. The low uptake of genetic testing may be attributed to social reasons, lack of genetic awareness 31 and high out‐of‐pocket costs of genetic testing 32 . Multi‐gene panel testing within our institution's cancer genetics service (CGS) routinely offers breast cancer genetic testing to male and female patients who meet clinical testing criteria, of which demand and uptake of testing in females far exceeds males.…”

Understanding cancer predisposition in Singapore: what’s next

“…Pretest and posttest genetic counselling ensure that accurate information is relayed and both time and space are provided for patients and their families to make an informed decision on germline testing. [ 27 ] In a multilingual country such as Singapore, English may be the working language, but not necessarily the native language of the patient. Healthcare providers should seek to explain genetics concepts at a level appropriate to patients’ understanding and in a language that the patient is comfortable in, supplementing with visual aids such as charts and diagrams to improve information retention.…”