Disparities in Uptake of BRCA1/2 Genetic Testing in a Randomized Trial of Telephone Counseling

Butrick, Morgan; Kelly, Scott P.; Peshkin, Beth N.; Luta, George; Nusbaum, Rachel; Hooker, Gillian W.; Graves, Kristi D.; Feeley, Lisa; Isaacs, Claudine; Valdimarsdottir, Heiðdís; Jandorf, Lina; DeMarco, Tiffani A.; Wood, Marie; McKinnon, Wendy; Garber, Judy E.; McCormick, Shelley R.; Schwartz, Marc D.

doi:10.1097/01.ogx.0000472122.98775.a5

Cited by 27 publications

(45 citation statements)

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“…Given the low number of minority participants in this trial, this finding must be interpreted cautiously. However, this finding is interesting in light of our previous report of lower uptake of genetic testing among minority women in the TC arm (Butrick et al 2015). It is possible that in UC, minority patients were more likely than nonminority participants to believe that the genetic counselor may not have fully understood or addressed how genetic risk information might impact them emotionally or socially, particularly when the counselor was of a different ethnic or racial background.…”

Section: Discussionmentioning

confidence: 78%

“…Procedures for the larger randomized controlled trial are described in our prior reports (Butrick et al 2015;Schwartz et al 2014). Briefly, eligible participants provided verbal consent prior to completing a baseline telephone interview to collect information about demographic, personal and family cancer history, knowledge levels, and psychosocial characteristics.…”

Section: Methodsmentioning

confidence: 99%

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Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling

Peshkin

Kelly

Nusbaum³

et al. 2015

Journal of Genetic Counseling

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Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women’s perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N=272; UC, N=282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95% CI = 3.32, 6.89) while also perceiving lower levels of support (OR=0.56, 95% CI=0.40–0.80) and emotional recognition (OR = 0.53, 95% CI = 0.37–0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4% vs. 52.8%; OR = 3.06, 95% CI = 1.39–6.74), while minority women perceived less support in UC vs. TC (58.3% vs. 38.7%; OR = 0.80, 95% CI = 0.39–1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.

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Section: Discussionmentioning

confidence: 78%

Section: Methodsmentioning

confidence: 99%

Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling

Peshkin

Kelly

Nusbaum³

et al. 2015

Journal of Genetic Counseling

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“…In the urban population, 25.9% (95% CI [21.1, 30.9]) of participants who received TGC underwent testing compared to 36.6% (95% CI [30.8, 42.8]) of participants in the IPGC arm (Kinney et al, 2014). Butrick et al (2015) evaluated factors that influenced genetic testing uptake. Using a logistic regression model, the authors found that predictors of completing genetic testing in the full sample of participants (N = 669) included randomization to IPGC, higher knowledge about HBOC, lower perceived stress, and non-Hispanic White race.…”

Section: Psychological Outcomesmentioning

confidence: 99%

“…However, for participants who underwent TGC, race and ethnicity were significantly associated with the likelihood of getting genetic testing. In this arm, 68.4% of minority participants underwent genetic testing compared to 87% of non-Hispanic White participants (OR = 0.41, 95% CI [0.18, 0.92]) (Butrick et al, 2015).…”

Section: Psychological Outcomesmentioning

confidence: 99%

Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review

Fournier¹,

Bazzell²,

Dains³

2018

ONF

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“…Understanding of the prevalence and contribution to cancer risk of BRCA1/2 variants in non-European populations has been limited by racial and ethnic disparities in genetic research (14). In addition to reduced uptake of genetic testing in diverse populations (15)(16)(17)(18), there is a higher rate of detection of variants of uncertain significance in non-European populations (19)(20)(21). Here, we evaluated the range of BRCA1/2 variants in a diverse patient population from the BioMe Biobank in New York City, and explored clinical characteristics of individuals harboring expected pathogenic variants in BRCA1/2.…”

Section: Introductionmentioning

confidence: 99%

Exome Sequencing Reveals a High Prevalence ofBRCA1andBRCA2Founder Variants in a Diverse Population-Based Biobank

Abul‐Husn

Soper

Odgis

et al. 2019

Preprint

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Word Count: 340 Manuscript Word Count: 4214Abstract Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of breast, ovarian, and other cancers, but most variant positive individuals in the general population are unaware of their risk, and little is known about the prevalence of pathogenic BRCA1/2 variants in non-European populations.We investigated BRCA1/2 prevalence and impact using exome sequencing and electronic health record (EHR) data from 30,223 adult participants of the BioMe Biobank in New York City. There were 218 (0.7%) individuals harboring expected pathogenic variants, resulting in an overall prevalence of 1 in 139. In subpopulations defined by genetic ancestry, the highest prevalence was in individuals of Ashkenazi Jewish (AJ; 1 in 49), Filipino and Southeast Asian (1 in 81), and Non-AJ European (1 in 103) descent. Among 218 variant positive individuals, 112 (51.4%) harbored known founder variants: 80 had AJ founder variants (BRCA1 c.5266dupC and c.68_69delAG, and BRCA2 c.5946delT), 7 had a Puerto Rican founder variant (BRCA2 c.3922G>T), and 25 had one of 19 other founder variants. Non-European populations were more likely to harbor BRCA1/2 variants that were not classified in ClinVar, or that had uncertain or conflicting evidence for pathogenicity. Within mixed ancestry populations, such as Hispanic/Latinos with genetic ancestry from Africa, Europe, and the Americas, there was a strong correlation between the proportion African genetic ancestry and the likelihood of harboring a BRCA1/2 variant with uncertain or conflicting evidence for pathogenicity. Based on EHR and participant questionnaire data, ~28% of variant positive individuals had a personal history, and ~45% a personal or family history of BRCA1/2-associated cancers.Approximately 27% of variant positive individuals had evidence of prior clinical genetic testing for BRCA1/2. However, individuals with AJ founder variants were twice as likely to have had a clinical test (38%) than those with other pathogenic variants (19%). These findings deepen our knowledge about BRCA1/2 variants and associated cancer risk in diverse populations, indicate a gap in knowledge about potential cancer-related variants in non-European populations, and suggest that genomic screening in diverse patient populations may be an effective tool to identify at-risk individuals.

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Disparities in Uptake of BRCA1/2 Genetic Testing in a Randomized Trial of Telephone Counseling

Cited by 27 publications

References 0 publications

Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling

Patient Perceptions of Telephone vs. In‐Person BRCA1/BRCA2 Genetic Counseling

Comparing Outcomes of Genetic Counseling Options in Breast and Ovarian Cancer: An Integrative Review

Exome Sequencing Reveals a High Prevalence ofBRCA1andBRCA2Founder Variants in a Diverse Population-Based Biobank

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