Differences Between Women Who Pursued Genetic Testing for Hereditary Breast and Ovarian Cancer and Their At-Risk Relatives Who Did Not

2011 ◽  
Vol 38 (5) ◽  
pp. 572-581 ◽  
Author(s):  
Maria C. Katapodi ◽  
Laurel Northouse ◽  
Penny Pierce ◽  
Kara J. Milliron ◽  
Guipeng Liu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer

Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1575-1575
Author(s):  
Charles Hendrix Shelton ◽  
Leigh Boehmer ◽  
Christine B. Weldon ◽  
William C. Guenther ◽  
Julia Rachel Trosman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Screening ◽  
Systematic Approach ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
Risk Patients

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.

What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing.

1998 ◽  
Vol 16 (5) ◽  
pp. 1650-1654 ◽  
Author(s):  
C Lerman ◽  
C Hughes ◽  
S J Lemon ◽  
D Main ◽  
C Snyder ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Depressive Symptoms ◽  
Genetic Testing ◽  
Family Members ◽  
Outcome Variable ◽  
Breast And Ovarian Cancer ◽  
Stress Symptoms ◽  
Related Stress

PURPOSE To identify members of hereditary breast and ovarian cancer families who are at risk for adverse psychologic effects of genetic testing. PATIENTS AND METHODS A prospective cohort study with baseline (preeducation) assessments of predictor variables (ie, sociodemographic factors, cancer history, and cancer-related stress symptoms) was performed. The primary outcome variable (presence of depressive symptoms) was assessed at baseline and at 1- and 6-month follow-up evaluations. Participants were 327 adult male and female members of BRCA1- and BRCA2-linked hereditary breast and ovarian cancer families, who were identified as carriers, noncarriers, or decliners of genetic testing. RESULTS The presence of cancer-related stress symptoms at baseline was strongly predictive of the onset of depressive symptoms in family members who were invited but declined testing. Among persons who reported high baseline levels of stress, depression rates in decliners increased from 26% at baseline to 47% at 1-month follow-up; depression rates in noncarriers decreased and in carriers showed no change (odds ratio [OR] for decliners v noncarriers=8.0; 95% confidence interval [CI], 1.9 to 33.5; P=.0004). These significant differences in depression rates were still evident at the 6-month follow-up evaluation (P=.04). CONCLUSION In BRCA1/2-linked families, persons with high levels of cancer-related stress who decline genetic testing may be at risk for depression. These family members may benefit from education and counseling, even if they ultimately elect not to be tested, and should be monitored for potential adverse effects.

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

2018 ◽  
Vol 28 (1) ◽  
pp. 26-33 ◽  
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.

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