Understanding
 BRCA
 Mutation Carriers’ Preferences for Communication of Genetic Modifiers of Breast Cancer Risk

Hovick, Shelly R.; Tan, Naomi; Morr, Lindsey; Senter, Leigha; Kinnamon, Daniel D.; Pyatt, Robert E.; Toland, Amanda E.

doi:10.1080/10810730.2019.1604912

Cited by 9 publications

(11 citation statements)

References 37 publications

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“…We observed substantial interest in the prospect of undergoing GRMT, with three-quarters of participants expressing interest in testing. This level is consistent with a recent study wherein 85% of interviewed BRCA1/2 carriers were interested in receiving refined cancer risk estimates [61]. Similarly, a study of breast cancer polygenic risk information among women from breast cancer families with uninformative genetic testing results found high interest (86.5%) and moderate actual uptake (42.1 to 61.8%) of a polygenic risk score [62].…”

Section: Discussionsupporting

confidence: 88%

“…These findings can be used by our team and other investigators to inform ongoing efforts to translate GRMT into cancer care in a manner consistent with patient preferences and information needs [39,61,74]. Genomics research offers promise that GRMT and calculation of polygenic risk scores can be leveraged to refine estimates of BRCA1/2 carriers' cancer risks [16-19, 21, 22]; this possibility was a primary driver of participants' interest in GRMT, with test results being deemed as valuable insomuch as they could help patients to contextualize and clarify uncertainty about their cancer susceptibility.…”

Section: Discussionmentioning

confidence: 97%

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Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test

Hamilton¹,

Garzon²,

Shah³

et al. 2020

Public Health Genomics

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Introduction: Genetic risk modifier testing (GRMT), an emerging form of genetic testing based on common single nucleotide polymorphisms and polygenic risk scores, has the potential to refine estimates of BRCA1/2 mutation carriers' breast cancer risks. However, for women to benefit from GRMT, effective approaches for communicating this novel risk information are needed. Objective: To evaluate patient preferences regarding risk communication materials for GRMT. Methods: We developed four separate presentations (panel of genes, icon array, verbal risk estimate, graphical risk estimate) of hypothetical GRMT results, each using varying risk communication strategies to convey different information elements including number of risk modifier variants present, variant prevalence among BRCA1/2 carriers, and implications and uncertainties of test results for cancer risk. Thirty BRCA1/2 carriers evaluated these materials (randomized to low, moderate, or high breast cancer risk versions). Qualitative and quantitative data were obtained through inperson interviews. Results: Across risk versions, participants preferred the presentation of the graphical risk estimate, often in combination with the verbal risk estimate. Interest in GRMT was high; 76.7% of participants wanted their own GRMT. Participants valued the potential for GRMT to clarify their cancer susceptibility and provide actionable information. Many (65.5%) anticipated that GRMT would make risk management decisions easier. Conclusions: Women with BRCA1/2 mutations could be highly receptive to GRMT, and the minimal amount of necessary information to be included in result risk communication materials includes graphical and verbal estimates of future cancer risk. Findings will inform clinical translation of GRMT in a manner consistent with patients' preferences.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 97%

Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test

Hamilton¹,

Garzon²,

Shah³

et al. 2020

Public Health Genomics

View full text Add to dashboard Cite

show abstract

“…For others, the impact of surgical menopause and the safety of HRT were emotive topics which were felt to be inadequately discussed. The need to strike a balance between information content and support for individuals’ processing and comprehension of that information is reported repeatedly in the literature [ 4 – 7 , 9 , 18 – 20 ].…”

Section: Discussionmentioning

confidence: 99%

Using patient perspectives to inform communication training materials for health care professionals discussing BRCA mutation testing

Shilling

Catt

Jenkins

et al. 2020

Breast Cancer Res Treat

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Purpose As demand for genetic testing grows and a wide range of health care professionals (HCPs) are potentially involved in discussions about testing and delivering results, we developed an educational package to help HCPs with these conversations. Methods To inform the content of training materials, we conducted interviews with 11 women four of whom had BRCA1 and seven with BRCA2 mutations. Five women had or were currently receiving breast cancer treatment. Ages ranged from 38 to 77 years. Interviews were audio-recorded, transcribed verbatim and analysed using the Framework approach to thematic analysis. Results We identified 18 themes and 12 subthemes across the interviews, encompassed by six overarching themes: risk, decision-making, information and understanding, communication and improvement, accessing the system: process and frustration, emotional and social drivers. Conclusions The findings informed the didactic components of an educational communication workshop and a summary document for attendees. Qualitative interviews provide an important way of incorporating the patient perspective into communication training materials for HCPs by highlighting key issues that matter most to the patient.

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“…Many women at high BC risk show an interest in moderate risk BC gene testing [ 14 ] and in receiving refined BC risk estimations based on common genetic variants (PRS) [ 15 , 16 ]. However, the adequacy of counselees’ understanding of multiple gene testing, their subsequent interpretation of results and adequate communication to family members has been questioned [ 14 ].…”

Section: Introductionmentioning

confidence: 99%

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

Brédart

Pauw²,

Anota³

et al. 2021

The Breast

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Objectives Comprehensive breast cancer (BC) risk models integrating effects of genetic (GRF) and non-genetic risk factors (NGRF) may refine BC prevention recommendations. We explored the perceived information received on BC risk factors, and related characteristics, in female relatives of women with a BRCA1/2 or PALB2 pathogenic variant, undergoing BC risk assessment using the CanRisk© prediction tool. Methods Of 200 consecutive cancer-free women approached after the initial genetic consultation, 161 (80.5%) filled in questionnaires on their perception of information received and wished further information on BC risk factors (e.g., being a carrier of a moderate risk altered gene, personal genetic profile, lifestyles). Multilevel multivariate linear models were performed accounting for the clinician who met the counselee and exploring the effect of counselees’ socio-demographic, familial and psychological characteristics on the perceived extent of information received. Results Perceived no/little information received and wish for further information were more frequent for NGRF (>50%) than for GRF, especially high-risk genes (<20%). Perceived amount of information received and desire for further information were inversely correlated (p=<0.0001). Higher education level related to lower perceived levels of information received on GRF. Younger counselees' age (β = 0.13, p = 0.02) and less frequent engagement coping (e.g., inclination to solicit information) (β = 0.24, p = 0.02) related to lower perceived information received about NGRF. Other assessed counselees’ features were not found to be associated to GRF and NGRF information perception. Conclusions Awareness of counselees’ perceived lack of information on BC risk factors indicates a need to enhance evidence-based information on BC NGRF especially.

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Understanding BRCA Mutation Carriers’ Preferences for Communication of Genetic Modifiers of Breast Cancer Risk

Cited by 9 publications

References 37 publications

Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel <b><i>BRCA1/2</i></b> Genetic Risk Modifier Test

Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel <b><i>BRCA1/2</i></b> Genetic Risk Modifier Test

Using patient perspectives to inform communication training materials for health care professionals discussing BRCA mutation testing

Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant

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