Cancer prevention and screening practices among women at risk for hereditary breast and ovarian cancer after genetic counseling in the community setting

1575 Background: Genetic testing for at risk non-cancer patients continues to increase (Guo F, et al Cancer 2020). We identified a high risk of familial breast and ovarian cancer in rural eastern North Carolina, and created a systematic approach for genetic screening, counseling and testing. Methods: A family history questionnaire was designed to assess for the risk for hereditary breast and ovarian cancer (HBOC) using NCCN guidelines, and used at key intake points within the unaffected population to determine eligibility for genetic testing. First it was offered at the time of all mammograms. Second, we offered it in the primary gynecology care setting to capture younger patients not participating in screening mammography. Patients meeting HBOC criteria were sent a letter and two phone calls to schedule genetic counseling. Analysis via descriptive statistics. Results: 3000 rural women screened using our systematic approach to genetic risk assessment. 22.4% (673/3000) of female patients met NCCN criteria for HBOC panel testing. All offered consultation and counseling. With a backlog to see patients due to higher than expected accrual, 217 patients have completed pre-test genetic counseling, 201 completed local 19-gene panel test, and 201 had post-test counseling. Germline mutations (=>1) that predict for genetic susceptibility to cancer(s) occur in 7.8% of our screened and tested population. Currently 1 in 400 patients screened in our unaffected population carry a BRCA mutation, and 1 in 200 carry some pathogenic mutation that increases risk for HBOC. Conclusions: This rural model of screening and prevention of at risk patients for HBOC is successful at detecting pathogenic mutations in unaffected patients before they are diagnosed with cancer. Interestingly, the rate of positivity in the unaffected population (meeting criteria) is as high as the known breast cancer population rate of germline mutations (5-10%), validating the use of testing guidelines with our model. Discovering this susceptibility before a cancer diagnosis resulted in appropriate high risk management with prevention and risk reduction strategies. We plan to expand this model to the male screening population in 2021, and streamline genetic assessment and testing for the larger population at risk by engaging more rural primary care clinics over time to increase testing compliance. We also plan to consider broader gene panels as newer mutations become linked to HBOC. Clinical trial information: UMCIRB 19-001052.

Download Full-text

Assessment of Genetic Counseling Referrals and Testing for Patients At Risk for Hereditary Breast and Ovarian Cancer Syndromes

Gynecologic Oncology ◽

10.1016/j.ygyno.2016.08.275 ◽

2016 ◽

Vol 143 (1) ◽

pp. 208

Author(s):

E. Smith ◽

R. Kline

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Genetic Counseling ◽

Breast And Ovarian Cancer ◽

Patients At Risk ◽

Cancer Syndromes

Download Full-text

Cancer screening practices (CSP) among women at risk of hereditary breast and ovarian cancer syndrome (HBOS) before genetic testing in Spain

Journal of Clinical Oncology ◽

10.1200/jco.2008.26.15_suppl.1538 ◽

2008 ◽

Vol 26 (15_suppl) ◽

pp. 1538-1538

Author(s):

C. Saura ◽

D. Fortuny ◽

T. Ramon y Cajal ◽

A. Torres ◽

B. Graña ◽

...

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Genetic Testing ◽

Cancer Screening ◽

Cancer Syndrome ◽

Breast And Ovarian Cancer ◽

Screening Practices

Download Full-text

Reducing Disparities in Receipt of Genetic Counseling for Underserved Women at Risk of Hereditary Breast and Ovarian Cancer

Journal of Women s Health ◽

10.1089/jwh.2019.7984 ◽

2020 ◽

Vol 29 (8) ◽

pp. 1131-1135

Author(s):

Arnethea L. Sutton ◽

Alejandra Hurtado-de-Mendoza ◽

John Quillin ◽

Lisa Rubinsak ◽

Sarah M. Temkin ◽

...

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Genetic Counseling ◽

Breast And Ovarian Cancer ◽

Underserved Women ◽

Reducing Disparities

Download Full-text

Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer

International Journal of Gynecological Cancer ◽

10.1097/igc.0000000000001122 ◽

2018 ◽

Vol 28 (1) ◽

pp. 26-33 ◽

Cited By ~ 6

Author(s):

J. Brian Szender ◽

Jasmine Kaur ◽

Katherine Clayback ◽

Mollie L. Hutton ◽

June Mikkelson ◽

...

Keyword(s):

Ovarian Cancer ◽

At Risk ◽

Genetic Counseling ◽

Genetic Testing ◽

Confidence Interval ◽

Categorical Variables ◽

Breast And Ovarian Cancer ◽

Clinical Genetic ◽

Patients At Risk ◽

The Impact

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

Download Full-text

The Influence of Health Literacy on Knowledge of Cervical Cancer Prevention and Screening Practices among Female Undergraduates at a University in Southwest Nigeria

Africa Journal of Nursing and Midwifery ◽

10.25159/2520-5293/6615 ◽

2020 ◽

Vol 22 (1) ◽

Author(s):

Sunday Joseph Ayamolowo ◽

Lydia Feyisayo Akinrinde ◽

Monisola Omoyeni Oginni ◽

Love Bukola Ayamolowo

Keyword(s):

Cervical Cancer ◽

Health Literacy ◽

Cancer Screening ◽

Cancer Prevention ◽

Cervical Cancer Screening ◽

Low Income ◽

Cervical Cancer Prevention ◽

Screening Practices ◽

Cancer Prevention And Screening ◽

Southwest Nigeria

The global incidence of cancer is rising, and low-income and lower-middle-income countries have the worst figures. However, knowledge of cervical cancer prevention and cervical cancer screening practices remains poor in these regions. This study assessed the concept of health literacy as a potential determinant of knowledge of cervical cancer prevention and screening practices among female undergraduates. A descriptive cross-sectional study was conducted among 385 female undergraduates at a university in southwest Nigeria. A validated questionnaire composed of subscales on nine components of health literacy, knowledge of cervical cancer prevention, and cervical cancer screening practices was used for data collection. The majority of the respondents obtained a high score on most of the components of health literacy and 66% had good knowledge of cervical cancer prevention. Only 11% demonstrated good practices of Pap smear testing. Of all the components of health literacy, “feeling understood and supported by healthcare providers” (OR = 0.075; 95% CI [0.036–0.115]; p = 0.015) and “understanding health information well enough to know what to do” (OR = 0.055; 95% CI [0.006–0.104]; p = 0.029) were significantly associated with knowledge of cervical cancer prevention. Out of the major challenges related to cervical cancer screening among undergraduates, the feeling of being at risk (OR = 4.71; p < 0.05) and uncomfortable experiences from past screening (OR = 0.12; p < 0.05) were significantly associated with going for cervical cancer screening. The study concluded that levels of health literacy influenced knowledge of cervical cancer prevention among female undergraduates, but it did not affect their engagement in cervical cancer screening practices.

Download Full-text