Genetic testing referral, uptake, and results in a program for women age 40 or younger with breast cancer.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1542-1542
Author(s):  
Asma Ali ◽  
Ellen Warner ◽  
Kimberley Hill
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Young Women ◽  
Epidemiological Data ◽  
The Other ◽  
Brca Testing ◽  
Variant Of Uncertain Significance ◽  
Mutation Carriers ◽  
Uncertain Significance ◽  
Testing Uptake

1542 Background: PYNK: Breast Cancer Program for Young Woman is a novel program started in 2008 at our center to optimize management and promote research for women ≤ age 40 newly diagnosed with breast cancer. Clinical and epidemiological data including cancer family history (FH) is prospectively collected on each consenting patient. As Toronto’s population is uniquely multiethnic we sought to determine BRCA testing eligibility, uptake and results for PYNK patients. Methods: Of the 145 consecutive patients, data were available for 109, of whom 2 had testing prior to diagnosis. Our provincial BRCA testing criteria are age < 35 at diagnosis; suspicious FH; or Ashkenazi Jewish (AJ) and age < 50 at diagnosis. Results: Of the 107 previously untested patients, 40 were < 35 at diagnosis. In 5 of the other 67 testing eligibility could not be assessed. 66 of the 102 (65%) were eligible and of those 65 (98%) were offered referral for counseling. One declined counseling, 9 were not yet seen, 2 declined testing, and 53 were tested. Test results are available for 47 as follows: 30 (64%) no mutation, 4 (8%) variant of uncertain significance (VUS), 7(15%) BRCA1 mutations and 6 (13%) BRCA2 mutations including 1 of the 4 AJ women. Ethnicity of the other 12 mutation carriers was: 1 Hispanic, 2 European, 2 African, 4 Asians, 1 mix, 1 unknown and 1 not recorded. Two (15%) of the mutation carriers had no FH of breast or ovarian cancer. Four additional women opted for counseling and testing despite ineligibility and none had mutations. Conclusions: A specialized program for young women facilitates appropriate referral for genetic testing and encourages high testing uptake, which is important given the high prevalence of mutations (28% of tested women). Further research is necessary to assess the psychological and management impact of having a VUS on young women compared to their older counterparts.

Is the variant of uncertain significance (VUS) rate important in genetic testing for breast cancer?

2018 ◽  
Vol 44 (6) ◽  
pp. 875
Author(s):  
Gordon Wishart ◽  
Stewart Payne ◽  
Zoe Allen ◽  
Matthew Edwards ◽  
Vicki Kiesel
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance

scholarly journals Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers

2018 ◽  
Vol 20 (9) ◽  
pp. 985-994 ◽  
Author(s):  
Haitham W Tuffaha ◽  
Andrew Mitchell ◽  
Robyn L Ward ◽  
Luke Connelly ◽  
James R G Butler ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cost Effectiveness ◽  
Germ Line ◽  
Family Members ◽  
Cost Effectiveness Analysis ◽  
Brca Testing ◽  
Cascade Testing ◽  
Effectiveness Analysis ◽  
Mutation Carriers

scholarly journals BRCA Detection Rate in an Italian Cohort of Luminal Early-Onset and Triple-Negative Breast Cancer Patients without Family History: When Biology Overcomes Genealogy

Cancers ◽  
2020 ◽  
Vol 12 (5) ◽  
pp. 1252 ◽  
Author(s):  
Angela Toss ◽  
Eleonora Molinaro ◽  
Marta Venturelli ◽  
Federica Domati ◽  
Luigi Marcheselli ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Triple Negative Breast Cancer ◽  
Early Onset ◽  
Detection Rate ◽  
Triple Negative ◽  
Brca2 Mutation ◽  
Brca Testing ◽  
Brca Genetic Testing

NCCN Guidelines recommend BRCA genetic testing in individuals with a probability >5% of being a carrier. Nonetheless, the cost-effectiveness of testing individuals with no tumor family history is still debated, especially when BRCA testing is offered by the national health service. Our analysis evaluated the rate of BRCA pathogenic or likely-pathogenic variants in 159 triple-negative breast cancer (TNBC) patients diagnosed ≤60 years, and 109 luminal-like breast cancer (BC) patients diagnosed ≤35 without breast and/or ovarian family histories. In TNBC patients, BRCA mutation prevalence was 22.6% (21.4% BRCA1). Mutation prevalence was 64.2% ≤30 years, 31.8% in patients aged 31–40, 16.1% for those aged 41–50 and 7.9% in 51–60 s. A total of 40% of patients with estrogen receptors (ER) 1–9% were BRCA1 carriers. BRCA detection rate in early-onset BCs was 6.4% (4.6% BRCA2). Mutation prevalence was 0% between 0–25 years, 9% between 26–30 years and 6% between 31–35 years. In conclusion, BRCA testing is recommended in TNBC patients diagnosed ≤60 years, regardless of family cancer history or histotype, and by using immunohistochemical staining <10% for both ER and/PR. In luminal-like early-onset BC, a lower BRCA detection rate was observed, suggesting a role for other predisposing genes along with BRCA genetic testing.

Genetic testing in young women with breast cancer: Results from a web-based survey

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21093-21093
Author(s):  
J. A. Shin ◽  
S. Gelber ◽  
J. Garber ◽  
R. Rosenberg ◽  
M. Przypyszny ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Young Women ◽  
College Education ◽  
Web Based ◽  
Increased Risk ◽  
History Of

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.

Decision support for family history intake to determine eligibility for BRCA testing among multiethnic women.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1586-1586 ◽  
Author(s):  
Julia E. McGuinness ◽  
Meghna S. Trivedi ◽  
Alejandro Vanegas ◽  
Hilary Colbeth ◽  
Rossy Sandoval ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Decision Support ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Self Report ◽  
Brca Testing ◽  
The Family ◽  
Brca Genetic Testing

1586 Background: The U.S. Preventive Services Task Force (USPSTF) recommends that women who meet family history criteria for hereditary breast and ovarian cancer (HBOC) be referred for genetic counseling. However, HBOC genetic testing is under-utilized, particularly among racial/ethnic minorities. We evaluated different methods of family history intake, including a validated family history screener, documentation in the electronic health record (EHR), and a web-based decision aid (DA). Methods: Among women undergoing screening mammography, we administered a validated family history screener to determine eligibility for BRCA genetic testing based upon USPSTF guidelines. We developed a patient-centered DA ( RealRisks) which includes modules on breast cancer risk, collection of detailed family history, and information on HBOC genetic testing. Women who met high-risk criteria for breast cancer were enrolled in an intervention trial to determine whether exposure to RealRisks increases referrals for high-risk consultations. BRCA genetic counseling/testing uptake was assessed by self-report and EHR review. Results: From November 2014 to June 2016, 3077 women completed the family history screener. Median age was 59 years (range, 29-99), including 76% Hispanic, 4% Ashkenazi Jewish, and 60% with a high school education or less. 12% met family history criteria for BRCA genetic testing based upon the family history screener, of which only 5.9% had previously undergone genetic counseling or testing. Sixty high-risk women were enrolled to access RealRisks. When family histories based upon the screener, DA, and EHR were compared, 12 (20%) had discrepancies in number of affected relatives, type of cancer, and age at diagnosis which changed eligibility for BRCA testing. Follow-up is ongoing to determine whether the DA facilitates appropriate referrals for genetic counseling. Conclusions: In a population of predominantly Hispanic and less educated women, a large proportion met USPSTF family history criteria for BRCA testing, but uptake of genetic counseling was low. Developing decision support for accurate family history intake is critical to identifying appropriate candidates for genetic referrals.

Knowledge outcomes in a randomized trial of telephone vs. in-person disclosure of genetic testing: The COGENT study.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1534-1534
Author(s):  
Nina Beri ◽  
Linda J. Patrick-Miller ◽  
Brian L. Egleston ◽  
Olufunmilayo I. Olopade ◽  
Michael J. Hall ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Randomized Trial ◽  
Genetic Knowledge ◽  
True Negative ◽  
Variant Of Uncertain Significance ◽  
Knowledge Change ◽  
Negative Results ◽  
Genetic Test Results ◽  
Uncertain Significance ◽  
Multivariable Analyses

1534 Background: Telephone disclosure (TD) of genetic testing is non-inferior to in-person disclosure (IPD) for most outcomes but did not meet non-inferiority for knowledge change. We sought to understand which concepts patients don’t understand and factors associated with lower knowledge. Methods: Patients were recruited to a multi-center, randomized trial (NCT01736345) comparing TD to IPD of genetic test results. 819 patients were randomized (IPD = 418; TD = 401); 165 declined randomization and requested IPD. Knowledge was assessed after pre-test counseling (V1) and test disclosure (V2). Results: There were no significant differences in genetic or multi-gene (MG) knowledge between disclosure groups after V1 and V2. On average, patients answered 73% (SD 1.19) of genetic knowledge and 57% (SD 1.78) of mg knowledge items correctly.After V1, most understood implications of a positive result (87%), that results are not deterministic (84%) and risks for their children (91%). Understanding of uninformative negative, true negative and variant of uncertain significance (VUS) results was lower (post-V1: 33%, 65%, 29%; post-V2 : 37%, 65%, 25%). In multivariable analyses, lower genetic knowledge after V1 was associated with study site, being older (p < 0.01), single (p < 0.01), non-white (p < 0.01), not Ashkenazi Jewish (p = 0.01), and not having a mutation in the family (p = 0.03), having more relatives with cancer (p < 0.01) and not graduating college (p < 0.01). Lower mg knowledge after V1 was associated with site and being non-white (p = 0.01). Lower genetic knowledge after V2 was not associated with disclosure method but associated with study site, being older (p < 0.01), not graduating college (p < 0.01) and being non-white (p < 0.01). Lower mg knowledge after V2 was only associated with not graduating college (p = 0.02). Conclusions: While there were no significant differences in genetic knowledge by disclosure method, understanding of several concepts (e.g. VUS and negative results) were lower regardless of arm. Several factors, including age, education and race/ethnicity were associated with lower knowledge. Interventions to improve genetic knowledge in real-world and diverse populations are needed. Clinical trial information: NCT07136345.

scholarly journals Genetic testing in young women with breast cancer: results from a Web-based survey

2010 ◽  
Vol 21 (4) ◽  
pp. 741-747 ◽  
Author(s):  
K.J. Ruddy ◽  
S. Gelber ◽  
J. Shin ◽  
J.E. Garber ◽  
R. Rosenberg ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Young Women ◽  
Web Based

scholarly journals Information and support needs of young women regarding breast cancer risk and genetic testing: adapting effective interventions for a novel population

2017 ◽  
Vol 17 (3) ◽  
pp. 351-360 ◽  
Author(s):  
Suzanne C. O’Neill ◽  
Chalanda Evans ◽  
Rebekah J. Hamilton ◽  
Beth N. Peshkin ◽  
Claudine Isaacs ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Young Women ◽  
Support Needs ◽  
Effective Interventions

scholarly journals Pathological features and genetic testing among breast cancer young women: a single-institution experience

Mastology ◽  
2018 ◽  
Vol 28 (s1) ◽  
pp. 63-63
Author(s):  
Leandro G. Oliveira ◽  
◽  
Ana C. G. Lima ◽  
Danilo A. Gusmão ◽  
Deidimar C. B. Abreu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Young Women ◽  
Pathological Features ◽  
Single Institution

Strategic integration of genetic testing and counseling in patients with breast cancer in an oncology care model (OCM) multisite community-based practice.

2021 ◽  
Vol 39 (28_suppl) ◽  
pp. 231-231
Author(s):  
Molly Mendenhall ◽  
Andrew Guinigundo ◽  
Elizabeth Burneka ◽  
Hannah Kolish ◽  
Sarah Mancini ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Metastatic Breast Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Metastatic Breast ◽  
Breast Cancer Patients ◽  
Brca Testing ◽  
Provider Education ◽  
Cancer Genetic ◽  
Nccn Guidelines

231 Background: Despite consensus driven recommendations, data suggests significant non-compliance in breast cancer genetic screening and testing. In the US nearly 300,000 patients are diagnosed with breast cancer annually, of whom approximately one-third are estimated to be BRCA-testing eligible by NCCN guidelines. Of this cohort of patients eligible for testing, it is estimated that again only one-third are ultimately being referred for genetic counseling and testing. Ideally, every patient who is guideline-eligible for testing should be tested, if they consent. The purpose of this project was to integrate and universally apply NCCN genetic breast cancer testing guidelines, building off current OCM processes, to all new breast and/or metastatic breast cancer patients within a large multi-site community oncology practice setting. Methods: Providers utilized directed EHR templates in the setting of an initial diagnosis visit or a treatment planning “OCM visit”. Discreet data fields were created in the EHR to streamline, prompt, and automate this process. Following provider education and uniform physician pre-approval, appropriate patients were reflexively referred to the genetics team for further evaluation and BRCA testing. Adherence to the plan was maintained and measured using data analytic reports and chart audits. Results: OHC’s pre-project eligible patient testing rate (2018) was found to be 20%. Between 1/2019 to 1/2021 1,203 new breast and/or metastatic breast cancer patients were seen and deemed eligible for inclusion, fully 1,200 were screened using NCCN guidelines (99%). Of those screened, 631 patients met the NCCN testing criteria (52.5%). 585 of the 631 were referred to a genetic specialist (92.7%), of those 449 patients were tested (76.7%), 136 patients refused (30%). 22 patients were found to have a BRCA 1 or 2 mutation (5.3%). An additional “halo” effect on other cancer diagnoses was also observed. Screening newly diagnosed breast cancer and metastatic breast cancer patients resulted in a 163% increase in genetic referrals aside from those with breast cancer. Conclusions: Our results suggest a significant overall improvement in breast cancer genetic testing rates. Implemented methods of provider education and awareness of NCCN guidelines imbedded within provider notes, together with discreet data fields in the EHR, proved to be highly effective at screening appropriate patients and ordering subsequent genetic testing; ensuring nearly 100% compliance with current NCCN guidelines for genetic testing. The workflow also resulted in a favorable increase in genetic referrals and testing across other cancers. The patient refusal rate for testing merits further investigation. This structured workflow with reflex genetics referral was effective, scalable, and financially viable to overall genetic and practice growth.

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