Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

Lieberman, Sari; Lahad, Amnon; Tomer, Ariela; Cohen, Carmit; Levy-Lahad, Ephrat; Raz, Aviad E.

doi:10.1038/gim.2016.175

Cited by 29 publications

(35 citation statements)

References 40 publications

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“…A limitation is lack of qualitative data on factors affecting attitude/uptake on BRCA testing. Nevertheless, a number of our findings are consistent with qualitative data reported by others …”

Section: Discussionsupporting

confidence: 94%

“…Our findings of BRCA testing acceptability are consistent with reports from Israel and Canada . Our uptake was slightly higher than the 67% reported in the Israeli study .…”

Section: Discussionsupporting

confidence: 91%

“…Motivators for BRCA testing observed by us have also been reported in the Israeli population‐testing study, telephone surveys and interviews with high‐risk AJ women . Although potential discrimination concerns some people, this is not widespread in the majority of the population.…”

Section: Discussionmentioning

confidence: 52%

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

Manchanda

Burnell

Gaba

et al. 2019

BJOG

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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.

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Section: Discussionsupporting

confidence: 94%

“…Our findings of BRCA testing acceptability are consistent with reports from Israel and Canada . Our uptake was slightly higher than the 67% reported in the Israeli study .…”

Section: Discussionsupporting

confidence: 91%

See 1 more Smart Citation

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

Manchanda

Burnell

Gaba

et al. 2019

BJOG

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“…Predicting breast cancer risk through testing BRCA1 and BRCA2 high‐risk variants seen in our populations represents a genetic screening paradigm shift to a broader definition of population screening to include predisposition screening (Lieberman et al. ). Despite an increased frequency of aggressive triple‐negative breast cancer among African American and Hispanic Latino women, genetic testing for deleterious BRCA 1 and 2 high‐risk variants to guide clinical decisions remains underutilized by members of either population (Olopade et al.…”

Section: Discussionmentioning

confidence: 99%

Assessing risk for Mendelian disorders in a Bronx population

diSibio

Upadhyay

Meyer

et al. 2017

Mol Genet Genomic Med

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BackgroundTo identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations.MethodsVariants from a high‐density oligonucleotide screen of 192 members from each of the three ethnic‐national populations (African Americans, Puerto Ricans, and Dominicans) were evaluated for overlap with next generation sequencing data. Variants were curated manually for clinical validity and utility using the American College of Medical Genetics (ACMG) scoring system. Additional variants were identified through literature review.ResultsA panel of 75 variants displaying autosomal dominant, autosomal recessive, autosomal recessive/digenic recessive, X‐linked recessive, and X‐linked dominant inheritance patterns representing 39 Mendelian disorders were identified among these populations.ConclusionScreening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.

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“…These examples highlight the broad consensus that system‐based improvements, such as the issuance of evidenced‐based guidelines and improved access to genetic testing, can in the right circumstances, lead to appropriate utilization of these technologies (Lieberman et al. ).…”

Section: Genomic Medicine and The Service Membermentioning

confidence: 99%

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

Castro

Turner

2017

Molec Gen & Gen Med

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Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience

Cited by 29 publications

References 40 publications

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

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

Assessing risk for Mendelian disorders in a Bronx population

Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services

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