Predictors of Population Awareness of Cancer Genetic Tests: Implications for Enhancing Equity in Engaging in Cancer Prevention and Precision Medicine

Giri, Veda N.; Shimada, Ayako; Leader, Amy

doi:10.1200/po.21.00231

Cited by 19 publications

(16 citation statements)

References 19 publications

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“…Given that the majority of the female respondents had breast cancer (62.5%), the latter two findings may be related to greater public awareness of the availability and benefits of genetic testing for breast cancer, however, as we did not ask about this specifically, there may be other underlying reasons for this result. 38 We also found that having a more distant cancer diagnosis was associated with increased insurance concerns and greater emotional concerns. This may be explained by the fact that participants who are receiving or have recently completed treatment are less concerned with factors such as future insurance coverage and emotional concerns as they are more preoccupied with more immediate heath concerns such as access to care and treatment costs.…”

Section: Discussionmentioning

confidence: 52%

“…For example, being female was also associated with increased insurance concerns, a stronger interest in health benefits, and increased positive outlook on the FACToR scale. Given that the majority of the female respondents had breast cancer (62.5%), the latter two findings may be related to greater public awareness of the availability and benefits of genetic testing for breast cancer, however, as we did not ask about this specifically, there may be other underlying reasons for this result 38 . We also found that having a more distant cancer diagnosis was associated with increased insurance concerns and greater emotional concerns.…”

Section: Discussionmentioning

confidence: 72%

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Psychosocial factors impacting barriers and motivators to cancer genetic testing

et al. 2023

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Background Only a small proportion of patients who qualify for clinical genetic testing for cancer susceptibility get testing. Many patient‐level barriers contribute to low uptake. In this study, we examined self‐reported patient barriers and motivators for cancer genetic testing. Methods A survey comprised of both new and existing measures related to barriers and motivators to genetic testing was emailed to patients with a diagnosis of cancer at a large academic medical center. Patients who self‐reported receiving a genetic test were included in these analyses ( n = 376). Responses about emotions following testing as well as barriers and motivators prior to getting testing were examined. Group differences in barriers and motivators by patient demographic characteristics were examined. Results Being assigned female at birth was associated with increased emotional, insurance, and family concerns as well as increased health benefits compared to patients assigned male at birth. Younger respondents had significantly higher emotional and family concerns compared to older respondents. Recently diagnosed respondents expressed fewer concerns about insurance implications and emotional concerns. Those with a BRCA‐related cancer had higher scores on social and interpersonal concerns scale than those with other cancers. Participants with higher depression scores indicated increased emotional, social and interpersonal, and family concerns. Conclusions Self‐reported depression emerged as the most consistent factor influencing report of barriers to genetic testing. By incorporating mental health resources into clinical practice, oncologists may better identify those patients who might need more assistance following through with a referral for genetic testing and the response afterwards.

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Section: Discussionmentioning

confidence: 52%

Section: Discussionmentioning

confidence: 72%

Psychosocial factors impacting barriers and motivators to cancer genetic testing

et al. 2023

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“…31 Creating educational aids that incorporate literacy, numeracy, and cultural barriers is important to consider when adapting counseling models. 32,33…”

Section: Discussionmentioning

confidence: 99%

Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing

Giri

Hartman

Pritzlaff

et al. 2022

JCO Precision Oncology

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PURPOSE Guidelines for prostate cancer (PCA) germline testing (GT) have expanded, with impact on clinical management and hereditary cancer assessment. African American (AA) men have lower engagement in GT, with concern for widening disparities in genetically informed care. We evaluated the germline spectrum in a cohort of men with PCA enriched for AA men who underwent GT to inform tailored genetic evaluation strategies. METHODS Participants included AA and White men with PCA tested with a 14-gene PCA panel: ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, RAD51D, and TP53. Germline analysis was performed per standard clinical testing and variant classification protocols. Data were compared with Fisher's exact, chi-squared, or two sample t-tests, as appropriate. Multivariable analysis was conducted using Akaike's Information Criterion. The significance level was set a priori at .05. RESULTS The data set included 427 men all tested using the 14-gene PCA panel: AA (n = 237, 56%) and White (n = 190, 44%). Overall, the pathogenic/likely pathogenic (P/LP) variant rate was 8.2%, with AA men having lower rates of P/LP variants then White men (5.91% v 11.05%, respectively; P = .05). Borderline associations with P/LP variant status were observed by race (AA v White; odds ratio = 0.51; P = .07) and age (> 50 v ≤ 50 years; odds ratio = 0.48; P = .06). The P/LP spectrum was narrower in AA men ( BRCA2, PALB2, ATM, and BRCA1) than White men ( BRCA2, ATM, HOXB13, CHEK2, TP53, and NBN). A significant difference was noted in rates of variants of uncertain significance (VUSs) between AA men and White men overall (25.32% v 16.32%; P = .02) and for carrying multiple VUSs (5.1% v 0.53%, P = .008). CONCLUSION Germline evaluation in a cohort enriched for AA men highlights the narrower spectrum of germline contribution to PCA with significantly higher rates of multiple VUSs in DNA repair genes. These results underscore the imperative to engage AA men in GT, the need for larger panel testing in AA men, and the necessity to incorporate novel genomic technologies to clarify VUS to discern the germline contribution to PCA. Furthermore, tailored genetic counseling for AA men is important to ensure understanding of VUS and promote equitable genetics care delivery.

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“…The majority of individuals in these cohorts indicated a self-reported White ancestry, which may have biased the results. The socioeconomic factors demonstrated to impact the utilization of genetic testing were not controlled for in this study ( Gómez-Trillos et al, 2020 ; McKinney et al, 2020 ; Giri et al, 2021 ). While not a focus in this study, Invitae has sponsored testing programs that eliminate potential financial barriers to diagnostic genetic testing for a number of clinical indications, in addition to research initiatives to help facilitate population screening and cascade testing across more diverse groups ( staff reporter, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

et al. 2022

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Although multiple factors can influence the uptake of cascade genetic testing, the impact of proband indication has not been studied. We performed a retrospective, cross-sectional study comparing cascade genetic testing rates among relatives of probands who received either diagnostic germline testing or non-indication-based proactive screening via next-generation sequencing (NGS)-based multigene panels for hereditary cancer syndromes (HCS) and/or familial hypercholesterolemia (FH). The proportion of probands with a medically actionable (positive) finding were calculated based on genes associated with Centers for Disease Control and Prevention (CDC) Tier 1 conditions, HCS genes, and FH genes. Among probands with a positive finding, cascade testing rates and influencing factors were assessed. A total of 270,715 probands were eligible for inclusion in the study (diagnostic n = 254,281,93.9%; proactive n = 16,434, 6.1%). A positive result in a gene associated with a CDC Tier 1 condition was identified in 10,520 diagnostic probands (4.1%) and 337 proactive probands (2.1%), leading to cascade testing among families of 3,305 diagnostic probands (31.4%) and 36 proactive probands (10.7%) (p < 0.0001). A positive result in an HCS gene was returned to 23,272 diagnostic probands (9.4%) and 970 proactive probands (6.1%), leading to cascade testing among families of 6,611 diagnostic probands (28.4%) and 89 proactive probands (9.2%) (p < 0.0001). Cascade testing due to a positive result in an HCS gene was more commonly pursued when the diagnostic proband was White, had a finding in a gene associated with a CDC Tier 1 condition, or had a personal history of cancer, or when the proactive proband was female. A positive result in an FH gene was returned to 1,647 diagnostic probands (25.3%) and 67 proactive probands (0.62%), leading to cascade testing among families of 360 diagnostic probands (21.9%) and 4 proactive probands (6.0%) (p < 0.01). Consistently higher rates of cascade testing among families of diagnostic probands may be due to a perceived urgency because of personal or family history of disease. Due to the proven clinical benefit of cascade testing, further research on obstacles to systematic implementation and uptake of testing for relatives of any proband with a medically actionable variant is warranted.

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Predictors of Population Awareness of Cancer Genetic Tests: Implications for Enhancing Equity in Engaging in Cancer Prevention and Precision Medicine

Cited by 19 publications

References 19 publications

Psychosocial factors impacting barriers and motivators to cancer genetic testing

Psychosocial factors impacting barriers and motivators to cancer genetic testing

Germline Variant Spectrum Among African American Men Undergoing Prostate Cancer Germline Testing: Need for Equity in Genetic Testing

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

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