Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study

Hesse‐Biber, Sharlene; Seven, Memnun; Shea, Hannah; Heaney, M; Dwyer, Andrew A.

doi:10.3390/genes14071450

Cited by 8 publications

(3 citation statements)

References 43 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We did not have sufficient variance in disagreement in assessment or either race or ethnicity to be able to investigate disparities in the tool’s performance. Multiple studies have found disparities in cancer genetics care based on race 48, 49 , ethnicity, and socioeconomic status 4 . While digital tools have potential to reduce disparities, care in their design, implementation, and evaluation is needed to ensure they perform and benefit patients equitably.…”

Section: Discussionmentioning

confidence: 99%

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Russell,

Daley,

Van Arnem

et al. 2024

Preprint

View full text Add to dashboard Cite

Purpose: Efficient and scalable solutions are needed to identify patients who qualify for germline cancer genetic testing. We evaluated the clinical validity of a brief, patient-administered hereditary cancer risk assessment digital tool programmed to assess if patients meet criteria for germline genetic testing, based on personal and family history, and in line with national guidelines. Methods: We applied the tool to cases seen in a nationwide telehealth genetic counseling practice. Validity of the tool was evaluated by comparing the tool's assessment to that of the genetic counselor who saw the patient. Patients' histories were extracted from genetic counselor-collected pedigrees and input into the tool by the research team to model how a patient would complete the tool. We also validated the tool's assessment of which specific aspects of the personal and family history met criteria for genetic testing. Results: Of the 152 cases (80% ((121/152)) female, mean age 52.3), 56% (85/152) had a personal history of cancer and 66% (99/152) met genetic testing criteria. The tool and genetic counselor agreed in 96% (146/152) of cases. Most disagreements (4/6; 67%) occurred because the GC's assessment relied on details the tool was not programmed to collect since patients typically don't have access to the relevant information (pathology details, risk models). We also found complete agreement between the tool and research team on which specific aspects of the patient's history met criteria for genetic testing. Conclusion: We observed a high level of agreement with genetic counselor assessments, affirming the tool's clinical validity in identifying individuals for hereditary cancer predisposition testing and its potential for increasing access to hereditary cancer risk assessment.

show abstract

Section: Discussionmentioning

confidence: 99%

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Russell,

Daley,

Van Arnem

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Two cases are presented using a qualitative, descriptive inquiry. Cases are drawn from a larger study that employed an explanatory sequential, mixed-methods approach to examine genomic healthcare utilization and intrafamilial communication of BRCA risk among ethnically and racially diverse individuals ( Hesse-Biber et al, 2023 ). The Boston College IRB approved the study (protocol #16.109.01) and participants provided informed consent.…”

Section: Methodsmentioning

confidence: 99%

“…In-depth semi-structured interviews were conducted (SH-B) and transcribed verbatim (#011:04/27/2022, 73 min, ∼20,000 words; #003: 4/14/2022, 111 min, ∼16,000 words). Three investigators (SH-B, MS, AAD) conducted qualitative analysis on transcriptions as previously described ( Hesse-Biber et al, 2023 ). Two cases were purposefully selected from the larger sample as potential illustrations of identity theft.…”

Section: Methodsmentioning

confidence: 99%

“Identity theft” in BRCA1/2: impact of positive genetic test results and risk-reducing interventions

Adler,

Hesse-Biber,

Seven

et al. 2024

Front. Genet.

Self Cite

View full text Add to dashboard Cite

Individuals harboring breast cancer gene 1/2 (BRCA1/2) pathogenic variants are at increased lifetime risk for developing cancer. Learning one’s BRCA1/2 carrier status is a watershed moment that can result in psychological distress, anxiety, and depression, as well as feelings of vulnerability and stigma. However, emotional and coping responses to learning one’s BRCA1/2 carrier status and after risk-reducing interventions (i.e., preventative bilateral mastectomy) are variable, and existing literature reveals mixed and sometimes contradictory results. Drawing on the concept of narrative identity from the field of psychology, we sought to examine if “identity theft” (the sudden overtaking of one’s narrative agency by an external force) may help explain the heterogeneity of emotional and coping responses following the revelation of BRCA carrier status and the subsequent medical intervention one may receive. This Perspective explores BRCA related identity theft using two case studies. Narrative analysis of qualitative interviews uncover the ways that patients experience the disintegration (theft) of their identity as well as their efforts to build and reintegrate a new BRCA carrier identity. This initial qualitative exploration provides preliminary support for the relevance of narrative identity and identity theft to hereditary cancer. We posit that applying the lens of identity theft may hold promise as a unifying concept, integrating across the variable emotional and coping responses among BRCA carriers. Employing a lens of identity theft may help inform the development of tailored narrative interventions as part of precision healthcare to support active coping and psychosocial wellbeing.

show abstract

Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients

Hodan,

Picus,

Stanclift

et al. 2024

J Community Genet

View full text Add to dashboard Cite

Racial and Ethnic Disparities in Genomic Healthcare Utilization, Patient Activation, and Intrafamilial Communication of Risk among Females Tested for BRCA Variants: A Mixed Methods Study

Cited by 8 publications

References 43 publications

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing

“Identity theft” in BRCA1/2: impact of positive genetic test results and risk-reducing interventions

Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients

Contact Info

Product

Resources

About