Genetic Counseling for Men with Prostate Cancer

Author(s):  
Colette Hyatt ◽  
Carey McDougall ◽  
Susan Miller-Samuel ◽  
Jessica Russo
2020 ◽  
Author(s):  
Nigel Armstrong ◽  
Ruben GW Quek ◽  
Steve Ryder ◽  
Janine Ross ◽  
Titas Buksnys ◽  
...  

Background: Ongoing clinical trials are investigating poly(ADP-ribose) polymerase (PARP) inhibitors to target the DNA damage repair (DDR) pathway in prostate cancer. DDR mutation screening will guide treatment strategy and assess eligibility for clinical trials. Materials & methods: This systematic review estimated the rate of DDR mutation testing or genetic counseling among men with or at risk of prostate cancer. Results: From 6856 records, one study fulfilled the inclusion criteria and described men undiagnosed with prostate cancer with a family history of BRCA1/2 mutation who received DDR mutation testing. Conclusion: With only one study included in this first systematic review of DDR mutation testing or genetic counseling in men with or at risk of prostate cancer, more research is warranted.


2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 1519-1519
Author(s):  
Veda N. Giri ◽  
Michael Bruneau ◽  
Elias Obeid ◽  
Christa Smaltz ◽  
Brandy-Joe Milliron

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13147-e13147
Author(s):  
Amy Kunz ◽  
Natalie Tri ◽  
Arash Samiei ◽  
Shifeng Mao

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.


2019 ◽  
Vol 37 (7_suppl) ◽  
pp. TPS343-TPS343 ◽  
Author(s):  
Donna Rachel Vatnick ◽  
Sandjida Aktar ◽  
Jill E. Stopfer ◽  
Lindsay Kipnis ◽  
Samantha K. Culver ◽  
...  

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.


2021 ◽  
Vol 206 (Supplement 3) ◽  
Author(s):  
Marissa A. Solorzano ◽  
Randy Vince ◽  
Mallory Luke ◽  
Michelle F. Jacobs ◽  
Samuel Kaffenberger ◽  
...  

2018 ◽  
pp. 1-14 ◽  
Author(s):  
Maria I. Carlo ◽  
Veda N. Giri ◽  
Channing J. Paller ◽  
Wassim Abida ◽  
Joshi J. Alumkal ◽  
...  

Purpose Advances in germline genetics, and related therapeutic opportunities, present new opportunities and challenges in prostate cancer. The Prostate Cancer Clinical Trials Consortium Germline Genetics Working Group was established to address genetic testing for men with prostate cancer, especially those with advanced disease undergoing testing for treatment-related objectives and clinical trials. Methods The Prostate Cancer Clinical Trials Consortium Germline Genetics Working Group met monthly to discuss the current state of genetic testing of men with prostate cancer for therapeutic or clinical trial purposes. We assessed current institutional practices, developed a framework to address unique challenges in this population, and identified areas of future research. Results Genetic testing practices in men with prostate cancer vary across institutions; however, there were several areas of agreement. The group recognized the clinical benefits of expanding germline genetic testing, beyond cancer risk assessment, for the goal of treatment selection or clinical trial eligibility determination. Genetic testing for treatment selection should ensure patients receive appropriate pretest education and consent and occur under auspices of a research study whenever feasible. Providers offering genetic testing should be able to interpret results and recommend post-test genetic counseling for patients. When performing tumor (somatic) genomic profiling, providers should discuss the potential for uncovering germline mutations and recommend appropriate genetic counseling. In addition, family members may benefit from cascade testing and early cancer screening and prevention strategies. Conclusion As germline genetic testing is incorporated into practice, further development is needed in establishing prompt testing for time-sensitive treatment decisions, integrating cascade testing for family, ensuring equitable access to testing, and elucidating the role of less-characterized germline DNA damage repair genes, individual gene-level biologic consequences, and treatment response prediction in advanced disease.


2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1507-1507
Author(s):  
Huma Q. Rana ◽  
Jill E. Stopfer ◽  
Nancie Petrucelli ◽  
Diane R. Koeller ◽  
Sara Pirzadeh-Miller ◽  
...  

1507 Background: Approximately 10% of men with advanced prostate cancer (PC) have pathogenic/likely pathogenic variants (PV) in cancer susceptibility genes and their identification may lead to targeted therapy. Genetic testing (GT) can also guide cancer surveillance and prevention for family members. While GT is recommended for men with potentially lethal PC, traditional testing models are strained, and access limited. The ProGen study examined a novel pretest model aimed at providing access to GT while promoting informed consent. Methods: Inclusion criteria were: potentially lethal PC (metastatic, localized with Gleason score ≥8, rising/persistent PSA after local therapy), diagnosis age ≤ 55 years, prior malignancy, family history suggestive of a PV and/or at oncologist’s discretion. Consented subjects from 3 sites were randomized 3:1 to video education (VE) or in-person genetic counseling (GC). Subjects who consented to GT had 67 genes analyzed (Ambry, USA) with results disclosed by telephone by a genetic counselor. Outcomes included GT uptake, PV prevalence, and survey measures of satisfaction, distress, genetics knowledge, family communication, and impact on cancer care (obtained at the time of intervention, and at 1, 4, and 12 months after result disclosure). Two-sided Fischer exact tests were used for between-arm comparisons. Results: Over a 2-year period: 662 subjects were randomized, VE or GC were completed by 604 subjects (VE: 93.1%, GC: 88.8%) of whom 596 subjects (VE:98.9%, GC:97.9%) consented to GT. To date, 591 subjects have completed GT (VE: 99.3%, GC: 98.6%). At the time of intervention, most subjects agreed or strongly agreed that their assigned arm was useful (VE: 95%, GC: 88%). Differences were not statistically significant. Notably, 84 PV were identified in 78 subjects (13.2%), with BRCA1/2 PV accounting for 32% of subjects with a positive result ( BRCA2:21, BRCA1:4). Conclusions: In this randomized trial, both novel VE and traditional GC yielded high GT uptake without significant differences in outcome measures of acceptability and satisfaction. VE enabled access to critical GT results while maintaining the core tenants of informed consent. PV were found in 13.2% of subjects, 32% of whom had BRCA1/2 PV. Analysis of collected survey data to inform strengths and limitations of VE as compared with pretest GC will be presented. Clinical trial information: NCT03328091.


2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 28-28
Author(s):  
Stacy Loeb ◽  
Randall Li ◽  
Tatiana Sanchez Nolasco ◽  
Nataliya Byrne ◽  
Heather H. Cheng ◽  
...  

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]


The Prostate ◽  
2018 ◽  
Vol 78 (12) ◽  
pp. 879-888 ◽  
Author(s):  
Veda N. Giri ◽  
Elias Obeid ◽  
Sarah E. Hegarty ◽  
Laura Gross ◽  
Lisa Bealin ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document