Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting

Abstract

The vast majority of studies assessing communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have been conducted in Western societies, and a dearth of studies have been conducted in Asia among relatives of diverse carriers of pathogenic BRCA1/2 germline variants. This study aimed to present rates of BRCA1/2 result disclosure by probands and probands' motivators and barriers of family communication and predictive testing uptake among eligible relatives. It also examined patterns of disclosure and testing uptake among different types of relatives. Eighty-seven carriers with either breast or ovarian cancer, who had previously been found to be carriers of a pathogenic variant in BRCA1/2, were interviewed over the phone using a semi-structured interview guide. Fifty-six percent of patients were Chinese, 21% were Indian, and 23% were Malay. It was found that 62.0% of eligible first-and second-degree relatives were informed by the proband about the testing result and that 11.5% of eligible first-and second-degree relatives had genetic testing. First-degree relatives were more likely to have been informed and tested compared to second-degree relatives, as were sisters compared to brothers. The low rates of family communication and testing uptake documented in this study suggest that interventions should focus on encouraging probands to inform male and seconddegree relatives and targeting such relatives to increase informed decisions and accessibility to testing. Promotion strategies should be culturally sensitive to optimize outcomes.

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

“…These qualitative deficiencies in information transfer may have contributed, among other factors, e.g. the relevant number of minor children of study participants 12 , to low uptake rates of predictive genetic testing among relatives at risk seen in this study and in previous research 10 .…”

“…In particular, the complex nature of genetics and associated uncertainties about the families’ risk may act as a barrier in the communication process 7 , 8 , whereas valid knowledge about the gene alteration may enhance family communication 9 . Moreover, family-related factors have impact on communication 10 , for instance the presence of a family history of cancer, the quality of intrafamilial relationships 11 , 12 as well as the communication style within a family. Furthermore, communication may be affected by emotional barriers, for instance the mutation carriers’ desire to protect relatives from the psychosocial distress associated with that hereditary cancer risk 8 .…”

“…In addition, there might be a discrepancy in the communication frequencies with male and female relatives, thus partially underestimating the relevance for males 13 . Culture-based factors can also influence the communication process 10 . In conclusion, the disclosure of familial cancer risk to relatives is influenced multifactorially 7 , 10 .…”

“…Culture-based factors can also influence the communication process 10 . In conclusion, the disclosure of familial cancer risk to relatives is influenced multifactorially 7 , 10 . However, the subsequent uptake of predictive BRCA1 or BRCA2 testing by relatives at risk is also dependent on sociodemographic, economic, and psychosocial variables on the family members’ side 14 .…”

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

“…Despite mounting evidence on the utility of cascade testing, uptake rates among at-risk relatives remain low overall, though vary across clinical settings ( Cernat et al, 2021 ). Most studies focusing on genes associated with HCS report cascade testing uptake rates between 30 and 60% ( Fehniger et al, 2013 ; Menko et al, 2019 ; Lee et al, 2021 ). Uptake rates have been much lower (4–12%) among families with FH in the United States ( Ahmad et al, 2016 ; Gidding et al, 2020 ; Ajufo et al, 2021 ), but much higher (30% up to 90%) among families with FH in other Western countries ( Marks et al, 2006 ; Ahmad et al, 2016 ; van den Heuvel et al, 2020 ).…”