Attitude towards and factors affecting uptake of population‐basedBRCAtesting in the Ashkenazi Jewish population: a cohort study

Abstract

Objective To evaluate factors affecting unselected population‐based BRCA testing in Ashkenazi Jews (AJ). Design Cohort‐study set within recruitment to the GCaPPS trial (ISRCTN73338115). Setting North London AJ population. Population or sample Ashkenazi Jews women/men >18 years, recruited through self‐referral. Methods Ashkenazi Jews women/men underwent pre‐test counselling for BRCA testing through recruitment clinics (clusters). Consenting individuals provided blood samples for BRCA testing. Data were collected on socio‐demographic/family history/knowledge/psychological well‐being along with benefits/risks/cultural influences (18‐item questionnaire measuring ‘attitude’). Four‐item Likert‐scales analysed initial ‘interest’ and ‘intention‐to‐test’ pre‐counselling. Uni‐ and multivariable logistic regression models evaluated factors affecting uptake/interest/intention to undergo BRCA testing. Statistical inference was based on cluster robust standard errors and joint Wald tests for significance. Item‐Response Theory and graded‐response models modelled responses to 18‐item questionnaire. Main outcome measures Interest, intention, uptake, attitude towards BRCA testing. Results A total of 935 individuals (women = 67%/men = 33%; mean age = 53.8 (SD = 15.02) years) underwent pre‐test genetic‐counselling. During the pre‐counselling, 96% expressed interest in and 60% indicated a clear intention to undergo BRCA testing. Subsequently, 88% opted for BRCA testing. BRCA‐related knowledge (P = 0.013) and degree‐level education (P = 0.01) were positively and negatively (respectively) associated with intention‐to‐test. Being married/cohabiting had four‐fold higher odds for BRCA testing uptake (P = 0.009). Perceived benefits were associated with higher pre‐counselling odds for interest in and intention to undergo BRCA testing. Reduced uncertainty/reassurance were the most important factors contributing to decision‐making. Increased importance/concern towards risks/limitations (confidentiality/insurance/emotional impact/inability to prevent cancer/marriage ability/ethnic focus/stigmatisation) were significantly associated with lower odds of uptake of BRCA testing, and discriminated between acceptors and decliners. Male gender/degree‐level education (P = 0.001) had weaker correlations, whereas having children showed stronger (P = 0.005) associations with attitudes towards BRCA testing. Conclusions BRCA testing in the AJ population has high acceptability. Pre‐test counselling increases awareness of disadvantages/limitations of BRCA testing, influencing final cost‐benefit perception and decision‐making on undergoing testing. Tweetable abstract BRCA testing in Ashkenazi Jews has high acceptability and uptake. Pre‐test counselling facilitates informed decision‐making.

Randomised trial of population‐based BRCA testing in Ashkenazi Jews: long‐term outcomes

“…Pre‐test genetic counselling undertaken in our study offered the opportunity to explore complexities and limitations around risk estimation incorporating an individual's family‐history and demographic variables as well as address any specific issues related to BRCA testing before undergoing genetic testing . This affected decision‐making and remains part of current standard clinical guidelines before genetic testing . The Israeli and Canadian studies successfully implemented a model of large‐scale BRCA testing without pre‐test counselling.…”

“…Nevertheless, high satisfaction levels (91–93%) have been reported with population‐based BRCA testing in the Canadian and Israeli studies on quantitative and qualitative analysis. Pre‐test genetic counselling undertaken in our study offered the opportunity to explore complexities and limitations around risk estimation incorporating an individual's family‐history and demographic variables as well as address any specific issues related to BRCA testing before undergoing genetic testing . This affected decision‐making and remains part of current standard clinical guidelines before genetic testing .…”

“…Patient and Public Involvement: During the development of the GCaPPS study a wide‐ranging process of engagement was undertaken with all sections of the Jewish community . This lasted a year.…”

“…Population‐based BRCA testing has been investigated in the Ashkenazi‐Jewish (AJ) population. It was found to be feasible, acceptable, cost‐effective, with high satisfaction, and deliverable in a community setting using non‐inferior, cost‐efficient pre‐test counselling approaches . Israeli and Canadian population‐cohort studies show increased anxiety/distress in mutation carriers at 6 months/1 year .…”

Evaluating the Integration of Genomics into Cancer Screening Programmes: Challenges and Opportunities

“…Population-based screening for CSGs has been trialled in select populations already, mainly BRCA screening in the Ashkenazi-Jewish community amongst whom there is a high prevalence of founder mutations [6][7][8]. In the UK, population screening for BRCA1/BRCA2 mutations in the Ashkenazi-Jewish population detected 56% more cases than familyhistory-based testing [7], had high acceptability [9] and is highly cost-effective even when Ashkenazi-Jewish ancestry is limited to one grandparent [10]. Alongside this, there is increasing evidence supporting stratification of existing cancer screening programmes by risk (including genetic risk determined by both CSGs and PRS), to optimise patient outcomes, reduce over-diagnosis and better utilise limited resources [2,3,[11][12][13][14].…”