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.

Genetic counseling processes and outcomes among prostate cancer patients (ProGen).

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. TPS343-TPS343 ◽  
Author(s):  
Donna Rachel Vatnick ◽  
Sandjida Aktar ◽  
Jill E. Stopfer ◽  
Lindsay Kipnis ◽  
Samantha K. Culver ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Dna Repair ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Cancer Risk ◽  
Mismatch Repair ◽  
Metastatic Prostate Cancer ◽  
Germline Mutations ◽  
Mismatch Repair Genes ◽  
Repair Genes

TPS343 Background: Prostate cancer (PC) is among the leading causes of cancer mortality in males. Recent studies found 8-12% of advanced PC cases may be hereditary. Germline mutations have been reported in BRCA1/2, other DNA repair genes including ATM, CHEK2, PALB2 and DNA mismatch repair genes. Genetic testing can inform treatment decisions including drug targeting, such as PARP inhibitors for men with BRCA mutations, and checkpoint inhibitors for those with pathogenic mutations in mismatch repair genes2. Discovering a pathogenic mutation associated with increased cancer risk also prompts dissemination of this information to family, where subsequent testing can lead to risk stratification and impactful opportunities for cancer screening and prevention. It is critical that men with high risk and potentially lethal prostate cancer routinely be offered genetic testing as a component of their cancer care. Genetic counseling services are limited, and more efficient services are needed. Methods: We are investigating video education prior to genetic testing compared with in-person pretest counseling with a licensed genetic counselor (GC). ProGen is an ongoing randomized trial evaluating two distinct models of cancer genetics service delivery in 450 PC cases over a two-year period. The study is conducted in collaboration with Ambry Genetics utilizing a 67-gene cancer panel. The primary aim is analysis of the proportion and type of germline mutations identified. Secondary aims include testing uptake by arm, evaluation of distress, knowledge, satisfaction with testing services, family communication, and impact on cancer care. Results are communicated by telephone with a GC. Inclusion criteria are: potentially lethal PC (metastatic, localized with Gleason score ≥8, rising/persistent PSA after local therapy), early diagnosis (≤ 55 years), prior malignancy, and/or family history potentially indicating a hereditary cancer risk. Enrollment is 74% completed at a single institution. (NCT03328091). 1 Pritchard CC, et al. Inherited DNA‐repair gene mutations in men with metastatic prostate cancer. NEJM. 2016;375:443 2 Mateo J, et al. DNA-Repair Defects and Olaparib in Metastatic Prostate Cancer. NEJM . 2015;373(18):1697-1708 Clinical trial information: NCT03328091.

Successful integration of genetic counseling in a comprehensive childhood cancer survivorship clinic.

2017 ◽  
Vol 35 (5_suppl) ◽  
pp. 230-230
Author(s):  
Shafqat Shah ◽  
Gregory John Aune ◽  
Lindsey Mette ◽  
Natalie Poullard
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Family History ◽  
Childhood Cancer ◽  
Cancer Survivorship ◽  
Chart Review ◽  
Genetic Counselor ◽  
Pilot Project ◽  
Cancer Predisposition ◽  
Childhood Cancer Survivorship

230 Background: Awareness of inherited genetic risk and cancer predisposition has markedly increased. Research has shown that germline mutations in known cancer predisposition genes are identified in ~8% of pediatric oncology patients. Patients diagnosed years ago did not meet with a Genetic counselor or undergo genetic testing. The annual comprehensive survivorship visit provides cancer survivors an opportunity to review personal and family history and receive Genetic counseling. Methods: Our group initiated a pilot project in our Childhood Cancer Survivorship clinic (CCSC) to assess the feasibility of introducing survivors to a Certified Genetic Counselor (CGC). Initially, a chart review of annual visits that took place over a 3-month period was performed. A record of documentation of family history and genetic counseling was made. During the pilot period, survivors and their families were given the option to meet with a CGC. The CGC prepared a pedigree and made specific written recommendations regarding the indication, if any, for genetic testing in the patient or family. Anonymous post-counseling surveys were mailed to the families to gauge their satisfaction. Results: Prior to the pilot, 38 survivors were seen for annual visits over a 3 month period. Chart review identified no formal genetic counseling. A note of a family history of cancer was made in 1 patient. During the 3 month implementation period, 50 survivors were seen for annual visits. Thirty-four ( ~70%) accepted the offer to see a CGC. Of the 16 that did not meet with a CGC, 3 had significant medical issues that required attention, 2 had Down syndrome and 2 had previous genetic counseling. The rest declined interest with no specific rationale. Very few (3) surveys were returned. All rated the experience highly. Conclusions: Our experience in a multi-disciplinary CCSC supports the feasibility of delivering CGC services to long-term survivors of cancer. A majority of survivors were interested in meeting with the CGC. Further development of this program will focus on educating survivors about cancer predisposition and increasing access to CGC services.

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

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1590-1590
Author(s):  
Barry Tong ◽  
Hala Borno ◽  
Eric Jay Small ◽  
Fern Alagala ◽  
Amie Blanco ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Metastatic Prostate Cancer ◽  
Genetic Counselor ◽  
Germline Mutations ◽  
Genetic Counselors ◽  
High Risk Population ◽  
Risk Population ◽  
Positive Results

1590 Background: Metastatic prostate Cancer (mPCa) is increasingly recognized as a heritable disease and germline genetic testing has increasingly become a part of standard of care. At the University of California at San Francisco (UCSF) Genitourinary (GU) Medical Oncology clinic, approximately 850 new patients with mPCa are seen annually. A feasibility pilot Genetic Testing Station (GTS) was developed to expand access to genetic testing among this high-risk population. GTS is facilitated by Genetic Counselor Assistants (GCA) under the supervision of genetic counselors. Methods: This is a feasibility pilot of a GTS model among patients with mPCa. In this model, all patients with mPCa are offered a same day GTS visit with a GCA. At the GTS, the patient receives pre-test education via videos developed by genetic counselors. The patient provides informed consent, a family history, and a saliva sample for Invitae’s 87-gene panel. All positive results trigger a genetic counselor visit while non-positive results either receive a letter or a genetic counselor visit (in person or via telehealth). To evaluate the model, testing frequency and laboratory turnaround time (TAT) was assessed before and after the pilot. Results: In the first four months of the GTS pilot (10/14/2019 – 02/10/2020), 94 patients were referred and received genetic testing. Eight germline positives were identified (BRCA2, CHEK2, HOXB13 MSH6, RECQL4). The average TAT was 8 days. 9.3% of patients were found to have pathogenic mutations through the prostate GTS which is comparable to previously published rates of germline mutations in metastatic prostate cancer patients. In a 4-month time frame the prior to the intervention (10/01/2018-1/31/2019), 26 genetic testing orders were placed. The average laboratory TAT in this prior process was 17 days. Rates of positive germline mutations in the prior model was 8.6%. Conclusions: The GTS is a feasible method to increase access to germline genetic testing among a high-risk population. It may reduce barriers to testing and facilitate real-time discussion of treatment and prevention strategies with patients and family members. As a result, we will continue to operate the GTS. This model provides a framework for scaling access for and cascade testing in other high-risk patient groups.

Clinical characteristics of men with prostate cancer and evaluation of NCCN prostate cancer guidelines on germline genetic testing outcomes.

2019 ◽  
Vol 37 (7_suppl) ◽  
pp. 252-252
Author(s):  
Samantha Greenberg ◽  
Brock O'Neil ◽  
Kathleen A. Cooney ◽  
Lisa M. Pappas ◽  
Jonathan David Tward
Keyword(s):  
Prostate Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Clinical Characteristics ◽  
Genetic Counselor ◽  
Clinical Information ◽  
Risk Groups ◽  
Genetic Test Results ◽  
History Of

252 Background: Growing evidence suggests up to 12% of men with metastatic prostate cancer (PC) harbor a pathogenic variant (PV) in genes associated with hereditary cancer risk. Updated NCCN PC guidelines include consideration for germline testing (GT) in men with high risk, very high risk, regional, or metastatic PC. As a result, we expanded our criteria for GT in men with PC to include these groups and men with a strong family history for PC beginning in January 2018. This study reports the clinical characteristics and germline findings before and after this expansion. Methods: Men with PC underwent multi-gene genetic testing (GT) for PVs from June 2016-June 2018 with genetic counselors. Clinical information and germline GT results were analyzed. Results: Of 285 eligible men who met with a genetic counselor, there were 201 evaluable GT results. One PV was excluded for suspicion of clonal hematopoiesis of indeterminate potential. Twenty-seven PVs were identified in 24 men (12.4%). Three men had two PVs identified (1.5%), at least one PV of which was in ATM or BRCA2. The most common PVs were ATM (n = 6, 3.0%), BRCA2 (n = 7, 3.5%), MYH (n = 4, 2.0%), and HOXB13 (n = 4, 2.0%). Rate of PVs were not statistically different across the two timeframes of GT, (2016-17, 14%; 2018, 11.2%; p = 0.60). PVs were not statistically associated with a higher ISUP group (1-3: 10.1%, 4-5: 13.6%; p = 0.49) and were distributed across multiple NCCN risk groups. Almost all men tested reported a family history of cancer, with the most frequent cancers reported including PC (n = 79, 39.3%), breast (n = 55, 27.4%), and colon cancer (n = 23, 11.4%). Family history of PC was not statistically associated with genetic test results (PV: 54%, no PV: 37%; p = 0.11). Conclusions: Expanding germline GT criteria will substantially increase patient volume without significant changes to the PV rate. Higher PC risk defined by ISUP or NCCN was not associated with the rate of PVs. Given this finding, further broadening the criteria for GT in PC may be warranted.

Barriers and facilitators of germline genetic evaluation for prostate cancer.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 28-28
Author(s):  
Stacy Loeb ◽  
Randall Li ◽  
Tatiana Sanchez Nolasco ◽  
Nataliya Byrne ◽  
Heather H. Cheng ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Cancer Genetics ◽  
Comparative Method ◽  
Genetic Evaluation ◽  
Barriers And Facilitators ◽  
Organizational Level ◽  
Physician Education ◽  
Coordination Of Care

28 Background: Genetic counseling and germline testing have an increasingly important role for patients with prostate cancer, with the recent approval of precision therapeutic options and implications for cancer screening in families. Although current guidelines recommend germline genetic evaluation for all men with metastatic prostate cancer and some with localized disease, recent data suggests it is underutilized. Our objective was to perform a qualitative study of barriers and facilitators of genetic counseling and germline genetic testing among physicians who manage prostate cancer. Methods: We conducted semi-structured interviews with medical oncologists, radiation oncologists, and urologists from different U.S. practice settings until thematic saturation was achieved at n = 14. The interview guide was based on the Tailored Implementation in Chronic Diseases Framework to identify key determinants of practice. Interview transcripts were independently coded by ≥2 investigators using a constant comparative method. Disagreements were resolved by team discussion. NVivo12 was used for data organization and analysis. Results: The decision to perform or refer for germline genetic evaluation is affected by factors at multiple levels (Table). Although patient factors play a role in some cases (e.g., refusal of testing for specific reasons), the dominant themes in the decision to conduct germline genetic evaluation were primarily at the physician and organizational level. Physician knowledge of prostate cancer genetics, coordination of care between providers, perceptions of the guidelines for genetic testing, and concerns about cost were most frequently discussed as the main factors affecting utilization of germline genetic evaluation. Conclusions: There are currently numerous barriers to the performance of germline genetic evaluation for prostate cancer. Efforts to expand physician education and to facilitate coordination of care surrounding genetic evaluation are important to promote guideline-concordant care. [Table: see text]

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.

Rates of appropriate genetic testing referral for breast cancer patients treated in a multidisciplinary cancer care setting.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 45-45 ◽  
Author(s):  
Caitlin Laurel Gomez ◽  
Nicole Ann Dawson ◽  
Robyn Lynn Dvorak ◽  
Nova Foster ◽  
Anne Hoyt ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Genetic Counselor ◽  
Newly Diagnosed ◽  
Breast Cancer Patients ◽  
Breast Clinic ◽  
Jewish Ancestry ◽  
The Impact ◽  
Genetics Referral

45 Background: Approximately 5% to 10% of women diagnosed with breast cancer have a genetic predisposition, which can affect management recommendations. The National Comprehensive Cancer Network (NCCN) has established guidelines for genetics referral and testing, however recent publications have indicated low rates of family history documentation and appropriate genetics referral. We sought to assess the impact of standardized family history documentation on rates of appropriate genetics referral in a multidisciplinary breast clinic (MDC) setting. Methods: In advance of MDC consultation, women with newly diagnosed breast cancer complete an intake questionnaire which includes documentation of Ashkenazi Jewish ancestry along with a thorough family history. We retrospectively analyzed family history documentation to inform eligibility for genetic testing and rates of appropriate genetics referral. Results: Between June 2012 and April 2014, 202 women with newly diagnosed, nonmetastatic breast cancer were seen in MDC. We noted 100% compliance with family history documentation. Per NCCN Guidelines, genetic testing was indicated in 52% (106 patients), of which 77% were appropriately referred to a genetic counselor for evaluation. All patients who met criteria based on personal history factors including age ≤ 45, triple-negative disease under age 60, or two or more breast primaries under age 50 were appropriately referred. Patients who were eligible but not referred ranged in age from 46 to 93 and were eligible for testing based on Ashkenzi Jewish ancestry (3 patients) or family history factors including a relative with ovarian cancer (3 patients), ≥2 relatives with breast cancer (5 patients), or a relative with breast cancer < age 50 (7 patients). Conclusions: Compared with recently published national averages, rates of appropriate family history documentation and genetic testing referrals are significantly higher in our MDC setting. However, this analysis has identified significant opportunity for improvement via identification of overlooked referral indications. Initiatives are underway to improve future compliance.

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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