Knowledge and understanding of genetic test results in men undergoing multigene testing for inherited prostate cancer.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. 1516-1516
Author(s):  
Veda N. Giri ◽  
Sarah Hegarty ◽  
Elias Obeid ◽  
Colette Hyatt ◽  
Carolyn Y Fang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Multivariable Analysis ◽  
Variant Of Uncertain Significance ◽  
Factors Associated ◽  
Genetic Test Results ◽  
Uncertain Significance ◽  
Significant Disagreement ◽  
Knowledge Of Cancer ◽  
Inherited Mutations

1516 Background: Genetic counseling (GC) for prostate cancer (PCA) risk is an emerging field, with limited insights regarding needs of males considering genetic testing (GT). Genetic Evaluation of Men is a prospective multigene testing study to identify inherited mutations linked to PCA, with testing following GC. We surveyed men pre-GT and post-GT on knowledge of cancer risk and genetics (KCRG) and understanding of personal GT results to identify GC needs. Methods: Eligibility for males affected or high-risk for PCA encompass age, race, family history (FH), and PCA stage/grade. Demographic, clinical, and FH data were obtained from participants and medical records. Pre-GT survey included questions on KCRG (15 items) and health literacy/numeracy (6 items). Post-GT survey additionally included understanding of GT results (9 items). Personal and FH were categorized into three hereditary cancer syndromes (HCS) linked to PCA. Factors associated with baseline KCRG were assessed by univariable models followed by multivariable linear regression. McNemar’s test was used to assess concordance of understanding GT results vs. actual results. Results: Among 109 men (mean age 63 years, 81% White, 59% PCA diagnosis) who completed pre- and post-surveys, factors associated with higher pre-test KCRG included meeting HCS criteria (p = 0.006) and higher numeracy (p = 0.025). On multivariable analysis, HCS remained significantly predictive of higher KCRG (p = 0.040). However, of 101 men who responded definitively regarding understanding of personal GT results, 13 responded incorrectly on mutation status indicating significant disagreement with actual results (McNemar’s p < 0.001). Of these 13 men, 12 had > = 1 variant of uncertain significance (VUS). Additionally, 6 men were unsure whether they carried a mutation when their GT results found VUS but no mutations. Conclusions: This is the first report of knowledge and understanding of genetics and cancer risk in the context of multigene testing for PCA. While personal/FH of HCS was associated with higher KCRG, understanding of personal GT results was lacking, and warrants tailored GC strategies for multigene testing for inherited PCA.

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

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

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

Germline pathologic mutations and cancer family history in prostate cancer patients.

2018 ◽  
Vol 36 (6_suppl) ◽  
pp. 378-378
Author(s):  
Marcus Marie Moses ◽  
Elisa Ledet ◽  
Emma M. Ernst ◽  
Patrick Cotogno ◽  
Joshua Schiff ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Family History ◽  
San Francisco ◽  
Treatment Options ◽  
Distant Metastases ◽  
Cancer Center ◽  
Chi Square ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Uncertain Significance

378 Background: Prostate cancer (PCa) patients (pts) with metastases and/or strong family history (FH) of cancer (Ca) are at higher risk of a germline mutation. The identification of alterations in PCa pts may be important for risk stratification as well as personalizing treatment options. The goal of this study was characterization of FH and pathogenic variants (PV) detected in PCa pts, with both localized and metastatic disease. Methods: 300 PCa pts from Tulane Cancer Center underwent germline testing. 265 Caucasian (C) and 35 African-Americans (AA) were tested and met the NCCN criteria for testing and/or had distant metastases (mets). Germline genetic testing was done via commercial panels (30-80 genes) (Invitae. San Francisco, Ca). PCa pts had extensive FH screening. Clinical annotation included age at diagnosis (dx), race, and presence of mets at any time. Chi square tests were used to compare clinical correlates and PVs. Results: Of the 300 pts tested, 182 pts (60.6%) had mets and 118 (39.4%) did not. 41 pts (13.6%) had ≥ 1 germline pathogenic variant (PV) and 161 pts (53.6%) had ≥ 1 germline variant of uncertain significance (VUS). PVs were detected in BRCA2 (n = 10), MUTYH (n = 8), CHEK2 (n = 6), BRCA1 (n = 4), ATM (n = 4), TP53 (n = 3), PMS2 (n = 2), BLM (n = 2), MITF (n = 2), NBN (n = 1), and RAD51D (n = 1). MUTYH and MITF are not known to be linked to prostate cancer. There was no significant relationships in FH PCa and FH non-PCa in regard to likelihood of a PV (p = .86 and p = .18). Of the 300 pts tested, 136 pts (45.3%) had PCa FH, 131 pts (43.6%) had breast Ca FH, 61 pts (20.3%) had lung Ca FH, 61 pts (20.3%) had colon Ca FH, 37 pts (12.3%) had pancreatic Ca FH, and 32 pts (10.6%) had ovarian Ca FH. 45.6% of C men (n = 121) and 42.8% of AA men (n = 15) had PCa FH. Pts with a non-PCa FH (n = 255) were 1.37 times more likely to develop mets (p = .01168). The median age of dx were 61 for PV pts, 62 for VUS pts, and 61 for negative pts (non-significant). 21/182 pts with mets (11.5%) had a PV; 8/182 (4.4%) pts with mets had a BRCA2 PV. Conclusions: In metastatic patients, FH of prostate cancer alone cannot predict those with PV. The most common Cas observed in these pts were breast, lung, colon and pancreatic. A larger cohort is needed to fully characterize and understand the co-segregation of PCa with other Cas.

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death

2021 ◽  
Author(s):  
Raquel Neves ◽  
David J. Tester ◽  
Michael A. Simpson ◽  
Elijah R. Behr ◽  
Michael J. Ackerman ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Strong Evidence ◽  
Susceptibility Gene ◽  
Susceptibility Genes ◽  
Medical Genetics ◽  
Variant Of Uncertain Significance ◽  
Pathogenic Variants ◽  
Genetic Test Results ◽  
Uncertain Significance ◽  
Genetics And Genomics

Background: Sudden cardiac arrest (SCA) and sudden unexplained death (SUD) are feared sequelae of many genetic heart diseases. In rare circumstances, pathogenic variants in cardiomyopathy-susceptibility genes may result in electrical instability leading to SCA/SUD before any structural manifestations of underlying cardiomyopathy are evident. Methods: Collectively, 38 unexplained SCA survivors (21 males; mean age at SCA 26.4±13.1 years), 68 autopsy-inconclusive SUD cases (49 males; mean age at death 20.4±9.0 years) without disease-causative variants in the channelopathy genes, and 973 ostensibly healthy controls were included. Following exome sequencing, ultrarare (minor allele frequency ≤0.00005 in any ethnic group within Genome Aggregation Database [gnomAD, n=141 456 individuals]) nonsynonymous variants identified in 24 ClinGen adjudicated definitive/strong evidence cardiomyopathy-susceptibility genes were analyzed. Eligible variants were adjudicated as pathogenic, likely pathogenic, or variant of uncertain significance in accordance with current American College of Medical Genetics and Genomics guidelines. Results: Overall, 7 out of 38 (18.4%) SCA survivors and 14 out of 68 (20.5%) autopsy-inconclusive, channelopathic-negative SUD cases had at least one pathogenic/likely pathogenic or a variant of uncertain significance nonsynonymous variant within a strong evidence, cardiomyopathy-susceptibility gene. Following American College of Medical Genetics and Genomics criterion variant adjudication, a pathogenic or likely pathogenic variant was identified in 3 out of 38 (7.9%; P =0.05) SCA survivors and 8 out of 68 (11.8%; P =0.0002) autopsy-inconclusive SUD cases compared to 20 out of 973 (2.1%) European controls. Interestingly, the yield of pathogenic/likely pathogenic variants was significantly greater in autopsy-inconclusive SUD cases with documented interstitial fibrosis (4/11, 36%) compared with only 4 out of 57 (7%, P <0.02) SUD cases without ventricular fibrosis. Conclusion: Our data further supports the inclusion of strongevidence cardiomyopathy-susceptibility genes on the genetic testing panels used to evaluate unexplained SCA survivors and autopsy-inconclusive/negative SUD decedents. However, to avoid diagnostic miscues, the careful interpretation of genetic test results in patients without overt phenotypes is vital.

Factors associated with comparative prostate cancer risk perception in first degree relatives

2013 ◽  
Author(s):  
Stacy N. Davis ◽  
Steven K. Sutton ◽  
Mitul V. Patel ◽  
Susan T. Vadaparampil ◽  
Cathy D. Meade ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Risk Perception ◽  
Cancer Risk ◽  
Prostate Cancer Risk ◽  
Cancer Risk Perception ◽  
Factors Associated ◽  
First Degree Relatives

Parent perceptions of offspring responses to parental communication of BRCA1/2 test results

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 1511-1511 ◽  
Author(s):  
A. R. Bradbury ◽  
L. Patrick-Miller ◽  
B. Egleston ◽  
C. Sands ◽  
M. Feigon ◽  
...  
Keyword(s):  
Genetic Test ◽  
Positive Impact ◽  
Childhood And Adolescence ◽  
Test Results ◽  
Variant Of Uncertain Significance ◽  
Mutation Carriers ◽  
Genetic Test Results ◽  
Self Reports ◽  
Uncertain Significance ◽  
The Impact

1511 Background: Many BRCA1/2 mutation carriers report sharing their genetic test results with their minor children. The impact of this communication on offspring remains unknown. Methods: 163 parents who had BRCA1/2 testing completed qualitative interviews regarding their experiences with communication of their genetic test results to offspring. Descriptive responses were coded and response proportions utilized to summarize results. We used multiple regressions fit by GEE to test associations with disclosure. We controlled for parent mutation status in each regression. Results: 163 parents (52 BRCA1/2 mutation carriers) reported on 323 offspring 5 to 25 years old at the time of parent genetic testing. 107 (66%) parents reported disclosing to at least one offspring. Child age (p < 0.001) and parent cancer history (p = 0.004) were positively associated with disclosure. Parents without a BRCA1/2 mutation were more likely to communicate test results than parents with a mutation (p = 0.007). Among parents who disclosed, few (14%) reported they perceived their offspring to have had an initial negative affective or behavioral response. Others (13%) reported offspring concern for self and family. Reports of initial negative responses and concern were more frequent among parents with a mutation or a variant of uncertain significance. Many parents reported that the communication had no significant impact (39%) or a positive impact (36%) on their offspring. Conclusions: Many parents report sharing BRCA1/2 test results with their offspring. Parent self-reports suggest that they do not perceive most offspring to experience adverse reactions to this communication. Self-reports suggest that offspring learning of a BRCA1/2 mutation or a variant of uncertain significance may be more susceptible to initial negative reactions. Further research is necessary to explore psychosocial and behavioral responses to learning of hereditary risk during childhood and adolescence, and to inform the development of interventions to optimize adaptive response. No significant financial relationships to disclose.

scholarly journals Assessment of Factors Associated with PSA Level in Prostate Cancer Cases and Controls from Three Geographical Regions.

2021 ◽  
Author(s):  
Nishi Karunasinghe ◽  
Tsion Zewdu Minas ◽  
Bo-Ying Bao ◽  
Arier Lee ◽  
Alice Wang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prostate Cancer Screening ◽  
Multivariable Analysis ◽  
Specific Antigen ◽  
Factors Associated ◽  
Geographical Regions ◽  
The Us ◽  
Independent Case ◽  
Genetic Stratification ◽  
And Control

Abstract Introduction- It is being debated whether prostate-specific antigen (PSA)-based screening effectively reduces prostate cancer mortality. Some of the uncertainty could be related to deficiencies in the age-based PSA cut-off thresholds used in screening. Methods- Current study considered 2779 men with prostate cancer and 1606 men without a cancer diagnosis, recruited for various studies in New Zealand, US and Taiwan. Association of PSA with demographic, lifestyle, clinical characteristics (for cases), and the aldo-keto reductase 1C3 (AKR1C3) rs12529 genetic polymorphisms were analysed using multiple linear regression and univariate modelling.Results- Pooled multivariable analysis of cases showed that PSA was significantly associated with demographic, lifestyle and clinical data with an interaction between ethnicity and age further modifying the association. Pooled multivariable analysis of controls data also showed that demographic and lifestyle are significantly associated with PSA level. Independent case and control analyses indicated that factors associated with PSA were specific for each cohort. Univariate analyses showed a significant age and PSA correlation among all cases and controls except for the US-European cases while genetic stratification in cases showed variability of correlation. Conclusion- Data suggests that unique PSA cut-off thresholds factorized with demographics, lifestyle and genetics may be more appropriate for prostate cancer screening.

scholarly journals Prevalence and factors associated with the performance of prostate cancer screening in the elderly: a population-based study

2018 ◽  
Vol 21 (1) ◽  
pp. 53-59
Author(s):  
Alisson Padilha de Lima ◽  
Ezequiel Vitório Lini ◽  
Rodrigo Britto Giacomazzi ◽  
Marcos Paulo Dellani ◽  
Marilene Rodrigues Portella ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prostate Cancer Screening ◽  
Multivariable Analysis ◽  
The Elderly ◽  
Population Based ◽  
Multiple Model ◽  
Population Based Study ◽  
Factors Associated ◽  
Independent Variables ◽  
Rectal Examination

Abstract Objective: to identify the prevalence and factors associated with preventive examinations for the screening of prostate cancer in the elderly. Methods: a cross-sectional population-based study of 181 men aged ≥60 years who were residents of a small city in the state of Rio Grande do Sul, Brazil, was carried out. The dependent variable was considered to be the performance of preventive prostate cancer tests in the past two years and the independent variables were those related to health and sociodemographic characteristics. To test the association between the outcome and the independent variables, gross and multivariable analysis using Poisson regression was performed, estimating the gross and adjusted prevalence ratios, calculating the confidence intervals of 95%. All variables with p≤0.20 were included in the multiple model. Results: the prevalence of preventive examinations for prostate cancer was 89%. The tests used were the Prostate Specific Antigen (PSA) (85.7%), followed by tests performed in combination: rectal examination and PSA (9.3%), rectal examination, ultrasound and PSA (3.1%), rectal examination and ultrasound (1.3%) and ultrasound and PSA (0.6%). In multivariate analysis, the variables retirement and marital status were the independent factors associated with the carrying out of at least one preventive examination of the prostate. Conclusions: The findings demonstrate that being retired increases the likelihood of carrying out preventive examinations and having a partner, being married or cohabiting increases the likelihood of undergoing tests.

scholarly journals Factors associated with oxidative stress and cancer risk in the Breast and Prostate Cancer Cohort Consortium

2014 ◽  
Vol 48 (3) ◽  
pp. 380-386 ◽  
Author(s):  
S. Blein ◽  
S. Berndt ◽  
A. D. Joshi ◽  
D. Campa ◽  
R. G. Ziegler ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Prostate Cancer ◽  
Cancer Risk ◽  
Factors Associated ◽  
Breast And Prostate Cancer

scholarly journals Assessment of factors associated with PSA level in prostate cancer cases and controls from three geographical regions

2022 ◽  
Vol 12 (1) ◽  
Author(s):  
Nishi Karunasinghe ◽  
Tsion Zewdu Minas ◽  
Bo-Ying Bao ◽  
Arier Lee ◽  
Alice Wang ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Prostate Cancer Screening ◽  
Multivariable Analysis ◽  
Specific Antigen ◽  
Factors Associated ◽  
Geographical Regions ◽  
The Us ◽  
Independent Case ◽  
Genetic Stratification ◽  
And Control

AbstractIt is being debated whether prostate-specific antigen (PSA)-based screening effectively reduces prostate cancer mortality. Some of the uncertainty could be related to deficiencies in the age-based PSA cut-off thresholds used in screening. Current study considered 2779 men with prostate cancer and 1606 men without a cancer diagnosis, recruited for various studies in New Zealand, US, and Taiwan. Association of PSA with demographic, lifestyle, clinical characteristics (for cases), and the aldo–keto reductase 1C3 (AKR1C3) rs12529 genetic polymorphisms were analysed using multiple linear regression and univariate modelling. Pooled multivariable analysis of cases showed that PSA was significantly associated with demographic, lifestyle, and clinical data with an interaction between ethnicity and age further modifying the association. Pooled multivariable analysis of controls data also showed that demographic and lifestyle are significantly associated with PSA level. Independent case and control analyses indicated that factors associated with PSA were specific for each cohort. Univariate analyses showed a significant age and PSA correlation among all cases and controls except for the US-European cases while genetic stratification in cases showed variability of correlation. Data suggests that unique PSA cut-off thresholds factorized with demographics, lifestyle and genetics may be more appropriate for prostate cancer screening.

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