Attitude towards and factors affecting uptake of population-based BRCA testing in the Ashkenazi Jewish population: a cohort study

BJOG. 2019 May;126(6):784-794. doi: 10.1111/1471-0528.15654. Epub 2019 Mar 18.


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.

Keywords: BRCA; Ashkenazi Jews; attitude; genetic testing; intention; interest; population-based; uptake.

Publication types

  • Randomized Controlled Trial

MeSH terms

  • Adult
  • Attitude to Health / ethnology
  • Cultural Characteristics
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling / psychology
  • Genetic Predisposition to Disease* / ethnology
  • Genetic Predisposition to Disease* / psychology
  • Genetic Testing* / economics
  • Genetic Testing* / statistics & numerical data
  • Hereditary Breast and Ovarian Cancer Syndrome* / ethnology
  • Hereditary Breast and Ovarian Cancer Syndrome* / genetics
  • Hereditary Breast and Ovarian Cancer Syndrome* / psychology
  • Humans
  • Jews* / genetics
  • Jews* / psychology
  • London
  • Male
  • Mutation
  • Patient Participation / statistics & numerical data
  • Socioeconomic Factors