Exploring African American males' attitudes towards genetic testing for prostate cancer risk.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. e13552-e13552
Author(s):  
Amy Leader ◽  
Thierry Fortune ◽  
Pamela Weddington ◽  
Nicole Crumpler ◽  
Veda N. Giri
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Focus Groups ◽  
Cultural Beliefs ◽  
Primary Care Visit ◽  
Health History ◽  
Counseling And Testing

e13552 Background: African American (AA) males have disproportionately high prostate cancer (PCA) incidence and mortality rates compared to men of other races. While genetic testing for PCA is rapidly expanding, AA men represent fewer than 10% of those who undergo genetic counseling and testing. Barriers for AA males may include a lack of awareness or understanding, cultural beliefs, financial and access-to-care limitations, fear of discrimination, and mistrust in the healthcare system. These issues may be exacerbated among low-income, urban AA males. Methods: We conducted two focus groups with AA males who live in a low-resource neighborhood in a major US city to explore their understanding about PCA, challenges in obtaining and discussing family health history, and attitudes towards genetic counseling and testing. Prior to the start of the focus groups, men provided informed consent and completed a brief survey to capture demographic and health history information. Focus groups were moderated by a male member of the community, were audio and video recorded, and transcribed verbatim. Transcripts were analyzed using NVivo 12 to deduce themes within the discussions. Results: Seventeen men participated in one of two focus groups. The mean age was 54 years old (range: 40-66). Only 5 men (30%) were married. Ten men (60%) did not report a family history of PCA, while the remaining 7 reported that their father, grandfather, brother or uncle had PCA. All men had a primary care visit in the past 3 years, but only 13 out of 17 men (76%) reported discussing PCA. Focus group discussions and analyses revealed multiple key themes. Men had limited understanding of the prostate and PCA, with somewhat fatalistic views toward cancer. Family history was recognized as an important risk factor for cancer; talking about family history has become easier and more widely accepted. However, there was mixed reaction to genetic testing: most men were unfamiliar with it but were in favor of learning more, while a few did not see the utility of genetic information. Conclusions: AA men continue to have knowledge deficits about PCA. While there is strong understanding that cancer may be hereditary, there is less awareness about PCA genetic testing. Targeted genetic education and addressing access and cost barriers to genetic testing among AA males is needed to increase uptake of genetic testing and participation in genetic trials.

Quality of cancer family history and referral for genetic counseling and testing among oncology practices: A pilot test of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI).

2012 ◽  
Vol 30 (18_suppl) ◽  
pp. CRA1505-CRA1505 ◽  
Author(s):  
Marie Wood ◽  
Pamela Kadlubek ◽  
Karen H. Lu ◽  
Dana Wollins ◽  
Jeffrey N. Weitzel ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Pilot Testing ◽  
Cancer Family ◽  
Referral Rates ◽  
Cancer Family History ◽  
Counseling And Testing ◽  
Oncology Practice

CRA1505 Background: The cancer family history (CFH) is an important tool for identification of individuals for genetic counseling/testing (GC/GT). Prior studies demonstrate a low rate of family history documentation and low referral rates for genetic counseling and genetic testing. Methods: In 2011ASCO began pilot testing new measures in QOPI to evaluate the practice of family history taking and referral for genetic counseling/testing in patients with either breast cancer (BC) or colorectal cancer (CRC). The measures assessed the presence or absence of CFH in 1st/2nd degree relatives, age at cancer diagnosis, referral for GC/GT and outcomes of referral. Results: Between September and October 2011 272 practices pilot tested these measures and reported on 10,466 patients (BC 6569, CRC 3897). 77.4% of all charts reviewed documented presence or absence of CFH in 1st degree relatives (BC 81.2% (CI 80-82%), CRC 77.4% (CI 76-79%), p= <0.001) and 61.5% of charts documented presence or absence of CFH in 2nd degree relatives (BC 68.9% (CI 68-70%), CRC 57.3% (CI 56-59%) p=<0.001). Age at diagnosis was documented for all relatives with cancer in 30.7% of charts (BC 45.2% (CI 44-47%), CRC 35.4% (CI 34-37%) p=<0.001). Patients were referred for GC/GT in 22.1% of all charts reviewed (BC 29.1% (CI 28-30%), CRC 19.6% (CI, 18-21%) p=<0.001). Of patients with hereditary risk (defined by selected risk guidelines) 52.2% of BC and 26.4% CRC were referred for GC/GT. When genetic testing was performed by the practice consent was documented 77.7% of the time and discussion of results was documented 78.8% of the time. Conclusions: Appropriate referral for GC/GT requires a complete and accurate CFH. In this pilot testing of QOPI measures we identified a higher quality of CFH information than expected though with room for improvement. Significant differences were seen between BC and CRC charts with greater accuracy of CFH and higher referral rates among BC patients. To obtain improvement in the identification and management of patients at high risk, significant improvements are needed. Education is part of the answer.

Streamlining the genetics pipeline to increase testing for patients at risk for hereditary prostate cancer.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 66-66
Author(s):  
Barry Tong ◽  
Hala Borno ◽  
Fern Alagala ◽  
Kelly Gordon ◽  
Eric Jay Small ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Metastatic Prostate Cancer ◽  
Medical Oncology ◽  
Cancer Genetics ◽  
Genetic Counselor ◽  
Turnaround Time ◽  
Gene Panel

66 Background: At UCSF, ~850 men with metastatic prostate cancer are seen annually, all of whom should receive germline genetic testing. Prior to our study, the GU medical oncology program offered a self-pay, take-home genetic testing kit (30-gene panel) to patients with metastatic prostate cancer. Patients with positive test results were referred for genetic counseling. For this study, the UCSF Cancer Genetics and Prevention program partnered with the GU medical oncology program, adapting a Genetic Testing Station (GTS) to expand access and accommodate testing needs. At Prostate GTS, a genetic counselor assistant (GCA) facilitates cancer genetics education by video, enrolls patient in a research registry, collects a family history and saliva sample sent for an 87-gene panel. Our study evaluates the effectiveness of the GTS by comparing prospective performance metrics and testing outcomes of Prostate GTS with retrospective data obtained from the take-home method (“Before GTS”). Methods: Men were ascertained by their treating oncologist and referred for GTS. Indications for genetic testing include: all metastatic prostate cancer, or under age 50 at diagnosis, or with family history, or at clinician discretion. GTS metrics were prospectively collected by clinical staff. “Before GTS” metrics were retrospectively collected through data reporting from commercial lab analysis (test orders dated 01/2017 to 09/2019) and patient chart review. Results: In the first 6 months of Prostate GTS (10/2019-3/2020), 139 patients received testing at the GTS and 91% (127) had received results at censoring. GTS results were distributed as follows: 10% (13) positives, 33% (42) negative no VUS, and 57% (72) negative w/VUS. In the 33 months, “Before GTS”, 218 genetic testing orders had been placed, with 78% (196) reported at censoring, distributed as 11% (22) positive, 68% (134) negative no VUS, and 20% (40) negative w/VUS. The rate of incomplete tests decreased significantly with the GTS, (22% down to 9%, p = 0.0008). "Before GTS", of patients with a positive result, 15/22 (68%) were referred for genetic counseling, of which 8 completed a visit (36% of all positives). In the GTS model, all patients with positive results were seen by a genetic counselor for results disclosure and counseling. Comparing result rates across similar timeframes, 127 results were reported from GTS compared to 40 results from “Before GTS” in the same calendar months the year prior, representing a 218% increase in returned results. Median turnaround time decreased from 16 days to 9 days with GTS. Conclusions: GTS efficiently increased access to genetic testing and counseling for patients with prostate cancer. By leveraging GCAs and video education, this model involves cancer genetics at each step of the process, decreases turnaround time, and increases rates of returned results that can be used by patients to inform treatment and prevention strategies.

Germline variants and family history in caucasian and African-American prostate cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e16548-e16548
Author(s):  
Elisa M. Ledet ◽  
Emma M. Ernst ◽  
Joshua Schiff ◽  
Shuwen Lin ◽  
Brian E. Lewis ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
African American ◽  
Genetic Testing ◽  
Family History ◽  
San Francisco ◽  
Testing Methods ◽  
Chi Square ◽  
Genetic Studies ◽  
Pathogenic Variants ◽  
Unknown Significance

e16548 Background: Family history (FH) is a well-documented risk factor for prostate cancer (PCa). Previously, germline pathogenic variants (PVs) have been identified in metastatic PCa. The goal of this study was to fully evaluate cancer FH and assess PVs detected in PCa patients undergoing both detailed FH ascertainment and germline genetic testing. Methods: FHs were collected from 535 PCa pts (Caucasian (Ca) n = 359, African American (AA) n = 85, Other n = 18) at Tulane from 2015-2016. Age at diagnosis, Gleasons, and the presence of metastases at any time were noted for these pts. Chi-square and the Mann-Whitney U tests were performed to identify relationships between clinical parameters and FH. 124 PCa pts including those with both localized and metastatic disease were identified with FHs that met guidelines for genetic testing. Genetic testing was done using a commercially available panel (Invitae, San Francisco, CA) of 25-79 cancer-related genes for mutations/selected exon deletions/duplications. Results: Of the 124 tested pts, 20 pts (16.1%) had ≥ 1 germline PV and 47 pts (37.9%) had ≥ 1 germline variant unknown significance. PVs included: BRCA2 (n = 4), BRCA1 (n = 3), CHEK2 (n = 3), MUTYH (n = 3), ATM (n = 2), TP53 (n = 1), MITF (n = 1), NBN (n = 1), PMS2 (n = 1), and RAD51D (n = 1). No PVs were detected in AA pts (n = 20). 435 of 535 PCa pts (81.3%) had a cancer FH with prostate (37.8%), breast (28.2%), lung (16.4%), colorectal (14.8%), and pancreatic (7.5%) cancer being most common. 281 pts (52.5%) had ≥ 2 relatives with cancer. Pts with PCa FH were more likely to be dx age ≤ 55 (p = 0.017). Median age was younger at dx for pts with PCa FH (p = 0.0005). PCa FH did not alter Gleason or metastatic rate. FH influenced age at dx for Ca men (p = 0.0009, 58 vs. 62.5 and Ca men with PCa FH) were 1.55x more likely to develop metastases (p = 0.035). In AA pts, there were no significant associations between FH, and metastases or age at dx. Conclusions: The most prevalent germline mutations in this cohort were in DNA repair pathway genes. Pts with PCa FH were younger at dx than those without PCa FH. Further studies are needed to understand the co-segregation of PCa with other cancers and genetic studies are needed to clarify the mechanisms of these trends which may differ between Ca and AA men.

Identification and management of familial breast cancer in Austria

2017 ◽  
Vol 32 (2) ◽  
Author(s):  
Christian F. Singer ◽  
Yen Y. Tan ◽  
Christine Rappaport
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Familial Breast Cancer ◽  
Prophylactic Surgery ◽  
Management Options ◽  
Counseling And Testing ◽  
Legal Implications

AbstractAimThe aim of this study is to review the legal implications, the technology, the indications and the management of women with a familial background of breast and/or ovarian cancer.MethodsWe have reviewed the literature and national Austrian guidelines to describe the uptake of genetic counseling and the management options offered in Austria.ResultsGenetic testing for theConclusionWhile readily available country-wide counseling has led to an increase in counseling and testing, Austrian legislation mandates “non-directional counseling” resulting in a comparatively low uptake of prophylactic surgery.

Uptake of genetic counseling and testing in a clinic based population of women with breast cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10524-10524
Author(s):  
Alexandra Wehbe ◽  
Mark A. Manning ◽  
Hadeel Assad ◽  
Kristen Purrington ◽  
Michael S. Simon
Keyword(s):  
Breast Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
White Women ◽  
Private Insurance ◽  
Stage Iv ◽  
Early Stage Disease ◽  
Cancer Susceptibility Genes ◽  
Counseling And Testing ◽  
Stage Iv Disease

10524 Background: Carriers of pathogenic variants in cancer susceptibility genes have an elevated risk of developing breast, ovarian, and other cancers.We conducted a medical record review to determine the uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. Methods: Medical records of 150 women with breast cancer seen at the Karmanos Cancer Institute between January-December 2018 were reviewed to determine the proportion eligible for genetic testing according to National Comprehensive Cancer Network guidelines. We also assessed genetics referral rates, appointment completion and results of genetic testing. Using chi-square and ANOVA tests, we analyzed the association of demographic and clinical factors with eligibility and referral to genetic counseling. Results: The average age of diagnosis was 57.1 years old, with 68.7% of women diagnosed with stage I-III disease, and 31.3% diagnosed with stage IV disease. There were 91 (60.7%) women who met NCCN criteria for genetic testing, of which 46.2% ultimately underwent genetic testing. Eligible women were more likely to be younger (52.6 vs. 64.0 years old), White (75.0% vs. 54.5%), and have Medicaid (75.0%) or private insurance (72.9%) vs. Medicare (44.8%). Women who met NCCN criteria were 3.5 times more likely to be referred for genetic counseling than those that did not meet eligibility criteria. Women were also more likely to be referred if they had early-stage disease compared to stage IV (67.8% vs. 48.3%), and Medicaid or private insurance compared to Medicare (71.4%, 72.0% and 40.0%, respectively). Of eligible women, 59.3% had a genetic counseling appointment scheduled, and of those, 78.0% attended their appointment. There were no apparent differences in appointment completion based on race with similar percentages of Black and White women completing their appointments (74.0% and 77.0% respectively). Women with stage IV disease were more likely to complete their appointments (83.0%) compared to women with stages I-III (74.0%) and fewer women with Medicare completed their genetic counseling appointment (56.0%) compared to women with Medicaid (83.0%) and women with private insurance (83.0%). Among women who attended their appointment, 95.9% underwent genetic testing. Of women who had genetic testing, 8.5% had a pathogenic variant and 30.4% had a variant of unknown significance. Conclusions: The results of this study indicate that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. By understanding barriers to genetic counseling and testing, future clinical initiatives could effectively improve accessibility to genetic counseling services.

scholarly journals Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology

2020 ◽  
pp. 991-1008
Author(s):  
Hemant Malhotra ◽  
Pradnya Kowtal ◽  
Nikita Mehra ◽  
Raja Pramank ◽  
Rajiv Sarin ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Risk Reduction ◽  
Pediatric Oncology ◽  
Indian Society ◽  
Site Mutation ◽  
Consensus Recommendations ◽  
Consensus Document ◽  
Counseling And Testing ◽  
Multiplex Ligation Probe Amplification

PURPOSE Hereditary breast and ovarian cancer (HBOC) syndrome is primarily characterized by mutations in the BRCA1/2 genes. There are several barriers to the implementation of genetic testing and counseling in India that may affect clinical decisions. These consensus recommendations were therefore convened as a collaborative effort to improve testing and management of HBOC in India. DESIGN Recommendations were developed by a multidisciplinary group of experts from the Indian Society of Medical and Pediatric Oncology and some invited experts on the basis of graded evidence from the literature and using a formal Delphi process to help reach consensus. PubMed and Google Scholar databases were searched to source relevant articles. RESULTS This consensus statement provides practical insight into identifying patients who should undergo genetic counseling and testing on the basis of assessments of family and ancestry and personal history of HBOC. It discusses the need and significance of genetic counselors and medical professionals who have the necessary expertise in genetic counseling and testing. Recommendations elucidate requirements of pretest counseling, including discussions on genetic variants of uncertain significance and risk reduction options. The group of experts recommended single-site mutation testing in families with a known mutation and next-generation sequencing coupled with multiplex ligation probe amplification for the detection of large genomic rearrangements for unknown mutations. Recommendations for surgical and lifestyle-related risk reduction approaches and management using poly (ADP-ribose) polymerase inhibitors are also detailed. CONCLUSION With rapid strides being made in the field of genetic testing/counseling in India, more oncologists are expected to include genetic testing/counseling as part of their clinical practice. These consensus recommendations are anticipated to help homogenize genetic testing and management of HBOC in India for improved patient care.

scholarly journals LATINOS’ PERCEPTIONS AND CONCERNS ABOUT ALZHEIMER’S DISEASE

2019 ◽  
Vol 3 (Supplement_1) ◽  
pp. S543-S543
Author(s):  
Laura Y Cabrera
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
African American ◽  
Alzheimer Disease ◽  
Focus Groups ◽  
Puerto Ricans ◽  
A Priori ◽  
Cultural Beliefs ◽  
Single Group ◽  
Health Aging

Abstract Several studies indicate that Latinos are at higher risk of developing Alzheimer Disease (AD). While research has centered on African-American/White or Latino/non-Latino differences, there exists heterogeneity within those groups. Clustering Latinos under a single group in AD resources, neglects cultural, biological and environmental differences. To address this complexity we examine perceptions and concerns about AD symptoms, diagnosis, and care among Mexicans and Puerto Ricans via six focus groups. A priori variables for thematic exploration include familiarity, cultural beliefs, trust, privacy, notions of identity and personhood. We use a pragmatic neuroethics framework as a lens to discuss and assess our findings and related implications. This will help address the multidimensional and multidirectional nature of knowledge and communication about diagnosis, treatments and nature of AD. These findings will help to identify differences and similarities among two distinct Latino groups, thereby contributing to scholarship in the fields of Latino’s health, aging, and neuroethics.

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.

Germline analysis of DNA-damage repair genes in men with advanced prostate cancer in comparison to women with breast cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13147-e13147
Author(s):  
Amy Kunz ◽  
Natalie Tri ◽  
Arash Samiei ◽  
Shifeng Mao
Keyword(s):  
Breast Cancer ◽  
Prostate Cancer ◽  
Dna Damage ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Advanced Prostate Cancer ◽  
Dna Damage Repair ◽  
Local Therapy ◽  
Genetic Alterations ◽  
Damage Repair

e13147 Background: Women with breast cancer have traditionally been the population for genetic counseling. The association of hereditary cancer syndromes and the development of advanced prostate cancer have been established only since recent years. There has been increased utilization of germline analysis in men with prostate cancer since NCCN updated its guideline on genetic testing for DNA damage repair (DDR) genes in the homologous recombination (HR) pathway in this population. In this study, we analyzed the prevalence of genetic alterations in DDR genes in men with advanced prostate cancer in relevance to women with breast cancer in our institution. Methods: Patients who were referred to genetic counseling in 2018 and met NCCN criteria underwent genetic testing following pretest genetic counseling. Samples obtained from buccal mucosa or peripheral blood were analyzed for germline variants using commercially available multi-gene panels which included DDR genes in the HR pathway. Results: In 2018, 54 men with prostate cancer with relapsed disease following local therapy, or de novo metastasis, and 305 women with breast cancer were included. At least one pathogenic or likely pathogenic variant was identified in 9 men (16.7%), most frequently in BRCA2, ATM, and CHEK2, as compared to those in 30 women (9.8%), p = 0.137. 17 men (31.5%) had at least one variant of uncertain clinical significance (VUS) detected in a DDR gene as compared to those in 74 (24.3%) women with breast cancer, p = 0.261. Conclusions: Men with advanced prostate cancer have a statistically comparable but numerically trending higher frequency of pathogenic variants and VUS in DDR genes detected on germline testing in comparison to women with breast cancer. The high prevalence of VUS in prostate cancer is an intriguing finding. VUS represent a genetic alteration with undefined clinical outcome. With increasing genetic testing in prostate cancer, further correlation between VUS of DDR genes and clinical risk features from a larger population is warranted.

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