Genetic Testing In Prostate Cancer Research Articles

Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre

BackgroundAn estimated 20% to 30% of men with advanced prostate cancer carry a mutation in DNA damage repair genes, of which half are estimated to be germline. Eligibility criteria for germline genetic testing expanded significantly for Ontario patients in May 2021 and many centers adopted a “mainstream” model, defined as oncologist-initiated genetic testing. MethodsWe conducted a retrospective chart review to report on the first-year mainstream experience of a large tertiary oncologic center, the Sunnybrook Odette Cancer Centre. All patients who underwent mainstream at the discretion of their treating physician were included. A subset underwent somatic profiling as part of clinical trial screening. Descriptive statistics were used to report baseline clinicopathologic characteristics and treatments received. ResultsBetween May 1, 2021, and May 30, 2022, 174 patients with prostate cancer underwent mainstream germline genetic testing with a 19-gene panel. Median age was 75 (IQR 68-80), and 82% of patients were diagnosed with either de novo metastatic or high-risk localized prostate adenocarcinoma. Fourteen patients (8%; 95% CI 4%-12%) were found to have a deleterious germline mutation, including pathogenic or likely pathogenic variants in BRCA1/2, ATM, CHEK2, PMS2, RAD51C, HOXB13, and BRIP1. Forty-nine patients (28%; 95% CI 21%-35%) were found to have a variant of uncertain significance. Thirty-four patients also had next-generation sequencing (NGS) of their somatic tissue. Among this subset, 8 of 34 (23%) had an alteration in homologous recombination repair (HRR) genes. Of the 14 patients with a germline mutation, none had a prior personal history of malignancy and 6 (43%) did not have any first- or second-degree relatives with history of prostate, pancreatic, breast, or ovarian cancer. ConclusionWe report on the real-world characteristics of prostate cancer patients who underwent mainstream germline genetic testing. Personal history and family history of cancer cannot reliably stratify patients for the presence of pathogenic germline variants.

2023 Canadian Urological Association guideline: Genetic testing in prostate cancer.

2023 Canadian Urological Association guideline: Genetic testing in prostate cancer.

Genetic Testing for Prostate Cancer, Urothelial Cancer, and Kidney Cancer

As genetic testing plays an increasingly salient role in the realm of cancer diagnosis, prognostication, and treatment, this review aims to elucidate the current landscape and future directions of genetic testing in genitourinary cancers, with a focus on prostate cancer, urothelial carcinoma, and renal cell carcinoma. With the increasing adoption of next-generation sequencing technology, the utilization and access to genetic testing in real-world settings have become critical for practicing urologists and genitourinary oncologists, especially after the approval of poly(ADP-ribose) polymerase inhibitors for prostate cancer and the utilization of immune checkpoint inhibitors. In this rapidly evolving field, this review underscores the clinical value of interpreting genetic variations and the importance of distinguishing between germline and somatic mutations, for whom testing can be prescribed, and which genes should be tested. While the current modus operandi predominantly relies on exome sequencing, we posit that the future of genetic testing in genitourinary cancers will see an expansion to encompass whole-genome sequencing, accounting for structural and regulatory variations that impact gene expression. In the upcoming era of liquid biopsies, we envisage an increase in noninvasive cancer genetic testing for the purposes of diagnosis, prognosis, treatment response, and progression monitoring, supplementing the gold-standard tissue biopsies that provide histologic information. Ultimately, thoroughly interpreting genetic testing results and the subsequent treatment implications necessitates a multidisciplinary approach. This review strives to offer urologists a comprehensive perspective on genetic testing in these prevalent urological cancers, contributing to improved diagnosis, prognosis, and treatment decision-making.

Aligning germline and somatic mutations in prostate cancer. Are genetics changing practice?

To review the current status of germline and somatic (tumour) genetic testing for prostate cancer, and its relevance for clinical practice. A narrative synthesis of various molecular profiles related to their clinical context was carried out. Current guidelines for genetic testing and its feasibility in clinical practice were analysed. We reported the main identified genetic sequencing results or functional genomic scores for prostate cancer published in the literature or obtained from the French PROGENE study. The molecular alterations observed in prostate cancer are mostly linked to disruption of the androgen receptor (AR) pathway or DNA repair deficiency. The main known germline mutations affect the BRCA2 and HOXB13 genes, whereas AR and TP53 are the genes with most frequent somatic alterations in tumours from men with metastatic prostate cancer. Molecular tests are now available for detecting some of these germline or somatic alterations and sometimes recommended by guidelines, but their utilisation must combine rationality and feasibility. They can guide specific therapies, notably for the management of metastatic disease. Indeed, following androgen deprivation, targeted therapies for prostate cancer currently include PARP inhibitors, immune checkpoint inhibitors and PSMA guided radiotherapy. The genetic tests currently approved for targeted therapies remain limited to the detection of BRCA1 and BRCA2 mutation and DNA mismatch repair deficiency, while large panels are recommended for germline analyses, not only for inherited cancer predisposing syndrome, but also for metastatic prostate cancer. Further consensus aligning germline with somatic molecular analysis in metastatic prostate cancer is required, including genomics scars, emergent immunohistochemistry or functional pre-screen imaging. With rapid advances in knowledge and technology in the field, continuous updating of guidelines to help the clinical management of these individuals, and well conducted studies to evaluate the benefits of genetic testing are needed.

Guidelines for genetic testing in prostate cancer: a scoping review.

Genetic testing, to identify pathogenic or likely pathogenic variants in prostate cancer, is valuable in guiding treatment decisions for men with prostate cancer and to inform cancer prevention and early detection options for their immediate blood relatives. There are various guidelines and consensus statements for genetic testing in prostate cancer. Our aim is to review genetic testing recommendations across current guidelines and consensus statements and the level of evidence supporting those recommendations. A scoping review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping review (PRISMA-ScR) guidelines. Electronic database searches and manual searches of grey literature, including websites of key organisations were conducted. Using the Population, Concept, Context (PCC) framework, this scoping review included: men with prostate cancer or men at high risk of prostate cancer and their biological families; existing guidelines and consensus statements with supporting evidence for genetic testing of men with prostate cancer from any geographical location worldwide. Of the 660 citations identified, 23 guidelines and consensus statements met the inclusion criteria for the scoping review. Based on different levels of evidence about who should be tested and how, a diverse range of recommendations were identified. There was general consensus among the guidelines and consensus statements that men with metastatic disease be offered genetic testing; however, there was less consensus in relation to genetic testing in localised prostate cancer. While there was some consensus in relation to which genes to test, recommendations varied regarding who to test, testing methods and implementation. While genetic testing in prostate cancer is routinely recommended and numerous guidelines exist, there is still considerable lack of consensus regarding who should be tested and how they should be tested. Further evidence is needed to inform value-based genetic testing strategies for implementation in practice.

Genetic Aspects and Molecular Testing in Prostate Cancer: A Report from a Dutch Multidisciplinary Consensus Meeting

BackgroundGermline and tumour genetic testing in prostate cancer (PCa) is becoming more broadly accepted, but testing indications and clinical consequences for carriers in each disease stage are not yet well defined. ObjectiveTo determine the consensus of a Dutch multidisciplinary expert panel on the indication and application of germline and tumour genetic testing in PCa. Design, setting, and participantsThe panel consisted of 39 specialists involved in PCa management. We used a modified Delphi method consisting of two voting rounds and a virtual consensus meeting. Outcome measurements and statistical analysisConsensus was reached if ≥75% of the panellists chose the same option. Appropriateness was assessed by the RAND/UCLA appropriateness method. Results and limitationsOf the multiple-choice questions, 44% reached consensus. For men without PCa having a relevant family history (familial PCa/BRCA-related hereditary cancer), follow-up by prostate-specific antigen was considered appropriate. For patients with low-risk localised PCa and a family history of PCa, active surveillance was considered appropriate, except in case of the patient being a BRCA2 germline pathogenic variant carrier. Germline and tumour genetic testing should not be done for nonmetastatic hormone-sensitive PCa in the absence of a relevant family history of cancer. Tumour genetic testing was deemed most appropriate for the identification of actionable variants, with uncertainty for germline testing. For tumour genetic testing in metastatic castration-resistant PCa, consensus was not reached for the timing and panel composition. The principal limitations are as follows: (1) a number of topics discussed lack scientific evidence, and therefore the recommendations are partly opinion based, and (2) there was a small number of experts per discipline. ConclusionsThe outcomes of this Dutch consensus meeting may provide further guidance on genetic counselling and molecular testing related to PCa. Patient summaryA group of Dutch specialists discussed the use of germline and tumour genetic testing in prostate cancer (PCa) patients, indication of these tests (which patients and when), and impact of these tests on the management and treatment of PCa.

Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study

BackgroundIn international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard genetic care pathway, pre-test counseling is provided by a healthcare professional of a genetics department. Because the number of patients with metastatic prostate cancer is large, the capacity in the genetics departments might be insufficient. Therefore, we aim to implement so-called mainstream genetic testing in the Netherlands for patients with metastatic prostate cancer. In a mainstream genetic testing pathway, non-genetic healthcare professionals discuss and order germline genetic testing. In our DISCOVER study, we will assess the experiences among patients and non-genetic healthcare professionals with this new pathway.MethodsA multicenter prospective observational cohort study will be conducted in 15 hospitals, in different regions of the Netherlands. We developed an online training module on genetics in prostate cancer and the counseling of patients. After completion of this module, non-genetic healthcare professionals will provide pre-test counseling and order germline genetic testing in metastatic prostate cancer patients. Both non-genetic healthcare professionals and patients receive three questionnaires. We will determine the experience with mainstream genetic testing, based on satisfaction and acceptability. Patients with a pathogenic germline variant will also be interviewed. We will determine the efficacy of the mainstreaming pathway, based on time investment for non-genetic healthcare professionals and the prevalence of pathogenic germline variants.DiscussionThis study is intended to be one of the largest studies on mainstream genetic testing in prostate cancer. The results of this study can improve the mainstream genetic testing pathway in patients with prostate cancer.Trial registrationThe study is registered in the WHO’s International Clinical Trials Registry Platform (ICTRP) under number NL9617.

Positive Impact of Implementing a Comprehensive Genetic Testing Protocol for Prostate Cancer Patients in a Multi-disciplinary Uro-oncology Practice.

Prior to the 2017 Philadelphia Consensus Conference guidelines, genetic testing for prostate cancer was conducted based on personal and family history of malignancy pursuant to National Comprehensive Cancer Network recommendations. The updated 2019 guidelines addressed the subject of genetic testing by endorsing point-of-care genetic testing and referral to genetic counseling. However, limited literature is available regarding successful implementation of a streamlined method for genetic testing. This paper explores the benefits of implementing an on-site guideline-based genetic testing process for prostate cancer patients. Data were retrospectively reviewed for 552 prostate cancer patients seen in a uro-oncology clinic since January 2017. Prior to September 2018 genetic testing was recommended based on National Comprehensive Cancer Network guidelines, and swabs for testing were procured off-site 1 mile from the clinic (n = 78). After September 2018 genetic testing was recommended based on the Philadelphia Consensus Conference guidelines, and swabs for testing were procured at the clinic itself (n = 474). A statistically significant increase in testing compliance was observed after the implementation of on-site, guideline-based testing. Genetic testing compliance increased from 33.3% to 98.7%. The time to receive the genetic test results was also reduced from 38 days to 21 days. The implementation of an on-site, guideline-based genetic testing model for prostate cancer patients significantly improved compliance with genetic testing to 98.7% and decreased the time to receive genetic test results by 17 days. Adopting a guideline-based model with on-site genetic testing can significantly improve the detection rate for pathogenic and actionable mutations and increase the utilization of targeted therapies.

Genetic Testing and Its Clinical Application in Prostate Cancer Management: Consensus Statements from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology

BackgroundIn recent years, indications for genetic testing in prostate cancer (PC) have expanded from patients with a family history of prostate and/or related cancers to those with advanced castration-resistant disease, and even to early PC patients for determination of the appropriateness of active surveillance. The current consensus aims to provide guidance to urologists, oncologists and pathologists working with Asian PC patients on who and what to test for in selected populations.MethodsA joint consensus panel from the Hong Kong Urological Association and Hong Kong Society of Uro-Oncology was convened over a series of 5 physical and virtual meetings. A background literature search on genetic testing in PC was performed in PubMed, ClinicalKey, EBSCOHost, Ovid and ProQuest, and three working subgroups were formed to review and present the relevant evidence. Meeting agendas adopted a modified Delphi approach to ensure that discussions proceed in a structured, iterative and balanced manner, which was followed by an anonymous voting on candidate statements. Of 5 available answer options, a consensus statement was accepted if ≥ 75% of the panelists chose “Accept Completely” (Option A) or “Accept with Some Reservation” (Option B).ResultsThe consensus was structured into three parts: indications for testing, testing methods, and therapeutic implications. A list of 35 candidate statements were developed, of which 31 were accepted. The statements addressed questions on the application of PC genetic testing data and guidelines to Asian patients, including patient selection for germline testing, selection of gene panel and tissue sample, provision of genetic counseling, and use of novel systemic treatments in metastatic castration-resistant PC patients.ConclusionThis consensus provides guidance to urologists, oncologists and pathologists working with Asian patients on indications for genetic testing, testing methods and technical considerations, and associated therapeutic implications.

Germline genetics of prostate cancer.

An important fraction (>/~10%) of men with high-risk, localized prostate cancer and metastatic prostate cancer carry germline (heritable) pathogenic and likely pathogenic variants (also known as mutations) in DNA repair genes. These can represent known or suspected autosomal dominant cancer predisposition syndromes. Growing evidence suggests that pathogenic variants in key genes involved in homologous recombination and mismatch DNA repair are important in prostate cancer initiation and/or the development of metastases. Here we provide a comprehensive review regarding individual genes and available literature regarding risks for developing prostate cancer, and discuss current national guidelines for germline genetic testing in the prostate cancer population and treatment implications. The association with prostate cancer risk and treatment implications is best understood for those with germline mutations of BRCA2, with emerging data supporting associations with ATM, CHEK2, BRCA1, HOXB13, MSH2, MSH6, PALB2, TP53 and NBN. Treatment implications in the metastatic castration resistant prostate cancer setting include rucaparib and olaparib, and pembrolizumab with potential clinical trial opportunities in earlier disease settings. The data summarized in this review has led to the expansion of national guidelines for germline genetic testing in prostate cancer. We review these guidelines, and discuss the importance of cascade genetic testing of relatives, diverse populations with attention to inclusion, as well as prostate cancer screening updates and clinical trial opportunities for men who carry genetic risk factors for prostate cancer.

PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER

You have accessJournal of UrologyCME1 May 2022PD13-03 LACK OF AWARENESS AND UNDERUTILIZATION OF GENETIC TESTING IN PROSTATE CANCER Sameer Thakker, Stacy Loeb, Veda Giri, and Richard Matulewicz Sameer ThakkerSameer Thakker More articles by this author , Stacy LoebStacy Loeb More articles by this author , Veda GiriVeda Giri More articles by this author , and Richard MatulewiczRichard Matulewicz More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002545.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Germline genetic factors are playing an increasingly important role in the management of many cancers, including breast, ovarian and prostate cancer. Additionally, germline test results may influence screening protocols for other cancers and have important implications for family members. However, public awareness and uptake of genetic testing among these different cancers is unknown. METHODS: We examined data from the HINTS 5, Cycle 4, collected from February to June 2020 on genetic knowledge, awareness and uptake of genetic testing, as well as sources of information on genetic testing. These survey data are collected in a two-stage random sample to generate a nationally-representative estimate of adults living in the U.S. We specifically compared patients with prostate cancer (n=61, weighted sample=1,542,420) to those with breast/ovarian cancer (n=97, weighted sample=3,741,402), and a comparison group with no history of cancer (n=3168, weighted sample= 226,434,648). RESULTS: Men with prostate cancer were significantly less likely to be aware of genetic testing for cancer risk (p=0.01). Compared to patients with breast/ovarian cancer and with no cancer, fewer men with prostate cancer responded that knowing genes are at least a little important to prevent, detect and treat cancer. Only 1% of men with prostate cancer underwent genetic testing for hereditary cancer risk and 0.8% had multiple forms of genetic testing, which was significantly lower than uptake among patients with breast/ovarian cancer (p <0.001). Healthcare professionals were the most common sources of information about genetic testing for patients with breast/ovarian cancer; whereas, the internet and social media were the most common sources of information on genetic testing for patients with prostate cancer and those without a history of cancer. CONCLUSIONS: Our results corroborate a lack of awareness and substantial underutilization of genetic testing among men with prostate cancer. These findings are concerning given the importance of germline genetic information for prostate cancer care and hereditary cancer risk. The internet and social media represent promising avenues to disseminate information about genetic testing in prostate cancer. Source of Funding: Dr. Loeb and Dr. Giri are supported by the Prostate Cancer Foundation and Department of Defense © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e251 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Sameer Thakker More articles by this author Stacy Loeb More articles by this author Veda Giri More articles by this author Richard Matulewicz More articles by this author Expand All Advertisement PDF downloadLoading ...

MP09-16 QUALITY OF INFORMATION IN SPANISH ON BRCA AND GENETIC TESTING IN PROSTATE CANCER ON YOUTUBE

You have accessJournal of UrologyCME1 May 2022MP09-16 QUALITY OF INFORMATION IN SPANISH ON BRCA AND GENETIC TESTING IN PROSTATE CANCER ON YOUTUBE Brett Friedman, Kevin Pineault, Tatiana Sanchez Nolasco, Hala Borno, Veda Giri, and Stacy Loeb Brett FriedmanBrett Friedman More articles by this author , Kevin PineaultKevin Pineault More articles by this author , Tatiana Sanchez NolascoTatiana Sanchez Nolasco More articles by this author , Hala BornoHala Borno More articles by this author , Veda GiriVeda Giri More articles by this author , and Stacy LoebStacy Loeb More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000002531.16AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Prostate cancer is the leading cancer diagnosis in Hispanic/Latino male patients with a significant morbidity and mortality burden. Germline genetic testing, especially BRCA 1/2, can play an important role in decision-making around screening, management, and family impact. While Latino male focus groups have shown high interest in genetic testing for hereditary cancer, only 21% have heard of the tests compared to 50% of white and 33% of African-American men.Studies have also shown that Latino males are underrepresented among U.S. patients with prostate cancer referred for germline testing. Nationally, over 41 million people speak Spanish but 1 in 5 Latinos with Spanish spoken at home report speaking English “not well” or “not at all.” Our objective was to analyze the quality of top online content about genetic testing and BRCA 1/2 in prostate cancer in Spanish compared to English, as a potential contributor to the observed disparities in genetic evaluation. METHODS: We focused on YouTube as the most commonly used social media platform in the U.S., and specifically by U.S. Hispanic adults. We conducted searches of YouTube in Spanish and English for searches of “BRCA y cancer de próstata,” “pruebas genéticas y cancer,” “BRCA and prostate cancer,” and “genetic testing and prostate cancer.” The first 10 videos from each search were examined using two validated instruments for the quality of consumer health information(n=40 total). Statistical analysis was performed with SPSS. RESULTS: Among the top 40 videos in searches for BRCA and genetic testing, those in Spanish were more focused on basic information about prostate cancer, whereas English-language videos were significantly more likely to discuss genetic testing, clinical trials, and targeted therapy based on genetic results. Additionally, 20% of Spanish videos that came up in the search focused exclusively on women and breast cancer compared to 0% of English videos. A large majority ofSpanish-language videos (90%) were made in countries where Spanish is the primary language. Spanish-language videos had higher average view counts (13,888 vs 1,036; p=0.004), and more comments (20 vs 1; p = 0.007) compared to English-language videos. Although none of the videos in either language had significant misinformation, only 5% of Spanish videos demonstrated moderate- to high-qualityconsumer health information (DISCERN scores 4-5), compared to 45% of English videos (p=0.003). In both Spanish and English, few videos had high scores (PEMAT >75%) for understandability (20% and 30%, respectively) and actionability (10% and 20%, respectively) for lay audiences. CONCLUSIONS: Spanish-language videos on BRCA and genetic testing in prostate cancer had a wider reach and user engagement compared to English-language videos; however, few Spanish videos contained high quality, understandable, and actionable information. Further study is warranted into the potential contribution of online information to disparities in knowledge and uptake of genetic evaluation among U.S. Hispanic/Latinomen with prostate cancer. Source of Funding: Prostate Cancer Foundation and Department of Defense © 2022 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 207Issue Supplement 5May 2022Page: e142 Advertisement Copyright & Permissions© 2022 by American Urological Association Education and Research, Inc.MetricsAuthor Information Brett Friedman More articles by this author Kevin Pineault More articles by this author Tatiana Sanchez Nolasco More articles by this author Hala Borno More articles by this author Veda Giri More articles by this author Stacy Loeb More articles by this author Expand All Advertisement PDF DownloadLoading ...

Germline testing and genetic counselling in prostate cancer.

Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by precision medicine. Rates of germline pathogenic variants have been reported in up to 15% of men with prostate cancer, particularly in metastatic disease, and results of genetic testing could uncover options for precision therapy along with a spectrum of hereditary cancer-predisposition syndromes with unique clinical features that have complex management options. Thus, the pre-test discussion, whether delivered by genetic counsellors or by health-care professionals in hybrid models, involves information on hereditary cancer risk, extent of gene testing, purpose of testing, medical history and family history, potential types of results, additional cancer risks that might be uncovered, genetically based management and effect on families. Understanding precision medicine, personalized cancer risk management and syndrome-related cancer risk management is important in order to develop collaborative strategies with genetic counselling for optimal care of patients and their families.

Genetic testing in prostate cancer management: Considerations informing primary care.

Inherited genetic mutations can significantly increase the risk for prostate cancer (PC), may be associated with aggressive disease and poorer outcomes, and can have hereditary cancer implications for men and their families. Germline genetic testing (hereditary cancer genetic testing) is now strongly recommended for patients with advanced/metastatic PC, particularly given the impact on targeted therapy selection or clinical trial options, with expanded National Comprehensive Cancer Network guidelines and endorsement from multiple professional societies. Furthermore, National Comprehensive Cancer Network guidelines recommend genetic testing for men with PC across the stage and risk spectrum and for unaffected men at high risk for PC based on family history to identify hereditary cancer risk. Primary care is a critical field in which providers evaluate men at an elevated risk for PC, men living with PC, and PC survivors for whom germline testing may be indicated. Therefore, there is a critical need to engage and educate primary care providers regarding the role of genetic testing and the impact of results on PC screening, treatment, and cascade testing for family members of affected men. This review highlights key aspects of genetic testing in PC, the role of clinicians, with a focus on primary care, the importance of obtaining a comprehensive family history, current germline testing guidelines, and the impact on precision PC care. With emerging evidence and guidelines, clinical pathways are needed to facilitate integrated genetic education, testing, and counseling services in appropriately selected patients. There is also a need for providers to understand the field of genetic counseling and how best to collaborate to enhance multidisciplinary patient care.

P008 - Germline genetic testing in prostate cancer: Practical implications of NCCN guidelines

P008 - Germline genetic testing in prostate cancer: Practical implications of NCCN guidelines

P009 - Germline genetic testing in prostate cancer: An evaluation for all?

P009 - Germline genetic testing in prostate cancer: An evaluation for all?

Gaps in Public Awareness About BRCA and Genetic Testing in Prostate Cancer: Social Media Landscape Analysis.

BackgroundGenetic testing, particularly for BRCA1/2, is increasingly important in prostate cancer (PCa) care, with impact on PCa management and hereditary cancer risk. However, the extent of public awareness and online discourse on social media is unknown, and presents opportunities to identify gaps and enhance population awareness and uptake of advances in PCa precision medicine.ObjectiveThe objective of this study was to characterize activity and engagement across multiple social media platforms (Twitter, Facebook, and YouTube) regarding BRCA and genetic testing for PCa compared with breast cancer, which has a long history of public awareness, advocacy, and prominent social media presence.MethodsThe Symplur Signals online analytics platform was used to obtain metrics for tweets about (1) #BRCA and #breastcancer, (2) #BRCA and #prostatecancer, (3) #genetictesting and #breastcancer, and (4) #genetictesting and #prostatecancer from 2016 to 2020. We examined the total number of tweets, users, and reach for each hashtag, and performed content analysis for a subset of tweets. Facebook and YouTube were queried using analogous search terms, and engagement metrics were calculated.ResultsDuring a 5-year period, there were 10,005 tweets for #BRCA and #breastcancer, versus 1008 tweets about #BRCA and #prostatecancer. There were also more tweets about #genetictesting and #breastcancer (n=1748), compared with #genetic testing and #prostatecancer (n=328). Tweets about genetic testing (12,921,954) and BRCA (75,724,795) in breast cancer also had substantially greater reach than those about PCa (1,463,777 and 4,849,905, respectively). Facebook groups and pages regarding PCa and BRCA/genetic testing had fewer average members, new members, and new posts, as well as fewer likes and followers, compared with breast cancer. Facebook videos had more engagement than YouTube videos across both PCa and breast cancer content.ConclusionsThere is substantially less social media engagement about BRCA and genetic testing in PCa compared with breast cancer. This landscape analysis provides insights into strategies for leveraging social media platforms to increase public awareness about PCa germline testing, including use of Facebook to share video content and Twitter for discussions with health professionals.

Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.

Recent literature highlights the importance of germline genetic testing in prostate cancer (PCa) patients. Surprisingly, a literature review indicates that family history (FH) records are incomplete in the major published studies from prostate cancer patients. Prospective family history data were gathered from 496 men in a single institution with a personal history of PCa who underwent germline genetic testing using a panel of at least 79 genes. Comprehensive first degree FH were obtained in all PCa of patients and analysis of prevalent FH was assessed at the time of sample collection. Pathogenic/likely pathogenic variants (PV/LPVs) were not associated with age at diagnosis, race, or presence of metastasis. One or more first degree relatives (FDR) with any cancer was not predictive for germline PV/LPVs for men with PCa (p = .96). Separate analysis of patients with one or more FDR with breast, prostate, ovarian, or pancreatic cancer revealed that only FDR with breast or ovarian cancer was predictive for PV/LPVs (p = .028, p = .015 respectively). Patients with a FDR with breast cancer had 1.8 increased risk of PV/LPVs, and patients with a FDR with ovarian cancer had 2.9 increased risk of PV/LPV. In men with a personal history of PCa, germline PV/LPVs were associated with a FDR with breast or ovarian cancer. Notably having FDRs with PCa does not predict for PV/LPVs. These data emphasize the contribution of FH in a data set with complete ascertainment of FH.

Family history and pathogenic/likely pathogenic germline variants in prostate cancer patients.

143 Background: Recent literature highlights the importance of germline genetic testing in prostate cancer (PCa) patients. Surprisingly, a literature review indicates that family history records are incomplete in published studies. Methods: Prospective and complete family history data were gathered from 496 men in a single institution with a personal history of PCa who underwent germline genetic testing using a panel of at least 79 genes (Invitae testing) from 2016-2020. Comprehensive FH were obtained in all PCa patients in this database and analysis of prevalent FH was assessed at the time of sample collection. Age, race, metastastes at any time, and Gleason score were also ascertained. MUTYH heterozygotes were not considered pathogenic. Results: Pathogenic/likely pathogenic variants (PV/LPVs) were not associated with age at diagnosis, race, or presence of metastasis. Men with Gleason scores 8-10 at time of diagnosis were more likely to have PV/LPV ( P= 0.004). One or more first degree relatives (FDR) with any cancer with was not predictive for germline PV/LPVs for men with PCa ( P= 0.96). Analysis of patients with one or more FDR with breast, prostate, ovarian, or pancreatic cancer revealed that only FDR with breast cancer ( P = 0.028) or ovarian cancer ( P = 0.015) was predictive for PV/LPVs. Though one or more FDR with prostate cancer did not predict a PV/LPV in the overall panel, further analysis indicate that a history of a FDR with PCa was predictive for PV/LPV in a DNA damage repair (DDR) gene ( P= 0.044). Conclusions: In men with a personal history of PCa, germline PV/LPVs were associated with a FDR with breast or ovarian cancer. A FDR with PCa was predictive for PV/LPV in DDR genes. These data emphasize the contribution of FH to germline genetic testing results in a cohort with complete ascertainment of cancer in first degree relatives.

The positive impact of implementing an onsite guideline-based genetic testing procedure for prostate cancer in a multidisciplinary uro-oncology clinic.

234 Background: Prior to the guidelines set forth by the 2017 Philadelphia consensus conference, genetic testing for prostate cancer was conducted based on personal and family history of malignancies pursuant to NCCN recommendations. The 2017 guidelines expanded testing criteria to included age at diagnosis, metastatic disease, and tumor sequencing. In spite of these advancements, limited literature is available regarding successful implementation of a streamlined system for genetic testing in prostate cancer. This paper explores the benefits of implementing an on-site guideline-based genetic testing process for prostate cancer patients treated at a multi-disciplinary uro-oncology practice. Methods: Data was retrospectively reviewed for 561 prostate cancer patients seen in a multi-disciplinary uro-oncology clinic since January 2017. Prior to January, 1, 2019 genetic testing was recommended to patients based on NCCN guidelines, and swabs for testing were procured off-site less than 1 mile from the clinic (n=107). After January, 1, 2019 genetic testing was recommended based on the guidelines set forth by the Philadelphia consensus conference, and swabs for testing were procured at the clinic itself (n=454). Results: A statistically significant increase in compliance with genetic testing was observed after the implementation of an on-site, guideline-based testing process. Patient compliance with genetic testing increased from 33.6% to 96.5%. The time to receive the genetic test results (calculated as the time between referral for genetic testing and obtaining the test results) was also significantly improved from 38 days to 21 days. Conclusions: The implementation of an on-site, guideline-based genetic testing model for prostate cancer patients significantly improved compliance with genetic testing to 96.5% and decreased the time to receive genetic test results by 17 days. Overall, adopting a guide-line based model with on-site genetic testing has the potential to significantly improve the detection rate for pathogenic and actionable mutations, increase the utilization of targeted therapies, and increase cascade testing to include at-risk family members.