RESUMO
BACKGROUND: The rapid evolution of genetic testing and availability of information has necessitated increased surgeon participation in genetics-related tasks. We sought to characterize knowledge, perceptions, attitudes, and barriers pertaining to genetic literacy among Canadian surgeons who manage patients with a hereditary predisposition to or confirmed cancer. METHODS: We distributed a Web-based survey to surgeons across Canada from June to December 2023 through relevant surgical societies. We analyzed quantitative and narrative data from the survey descriptively and thematically. RESULTS: We included 57 participants from 8 provinces (response rate 10%). Many surgeons (28/45, 62%) reported performing risk assessment, but 16% (7/45) reported counselling and 29% (13/45) reported ordering genetic testing. Surgeons reported low confidence in ordering testing and in interpreting and discussing implications of testing results. Most surgeons (35/39, 90%) expressed a desire for improvement in their knowledge and in their confidence in hereditary cancer genetics. Approval and funding for testing, referral to a genetic counsellor or medical geneticist, and availability of genetics clinics were reported as extreme barriers to providing care. CONCLUSION: Practising surgeons in Canada participate in many genetics-related tasks, but they report low confidence and face barriers to genetic literacy. There is a need and desire for interventions targeting genetic literacy among surgeons in Canada.
Assuntos
Atitude do Pessoal de Saúde , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Literacia para a Saúde , Neoplasias , Cirurgiões , Humanos , Canadá , Cirurgiões/psicologia , Cirurgiões/estatística & dados numéricos , Neoplasias/genética , Literacia para a Saúde/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Feminino , Masculino , Inquéritos e Questionários , Adulto , Pessoa de Meia-Idade , Predisposição Genética para Doença , Aconselhamento Genético/estatística & dados numéricosRESUMO
OBJECTIVE: Culturally targeted narrative education is a promising approach to cancer prevention and control. This study evaluates the uptake of genetic counseling and testing (GCT) in Latinas at risk for hereditary breast and ovarian cancers (HBOC) after watching a culturally targeted narrative video and being navigated to GCT services. METHODS: Latina women at increased risk for HBOC were recruited through community-based organizations. Participants responded to surveys before and after watching Spanish-language telenovela-style video. Surveys measured sociodemographic and clinical variables, HBOC and GCT knowledge, transportation with the story, identification with characters, and emotions elicited by the video. After watching video, participants were offered patient navigation services to free or low-cost GCT and completed a 3-month follow-up phone survey to assess GCT uptake. RESULTS: Participants (N = 40) were 47.35 years old on average (SD = 9.48); all were born outside the United States. At the 3-month follow-up (N = 37), 27 (72.9%) and 26 (70.27%) participants had attended genetic counseling and genetic testing, respectively. U Mann Whitney tests found statistically significant differences between women who attended counseling versus those who did not at baseline knowledge (U = 216.00, p = 0.000) and distress elicited by the video (U = 73.5, p = 0.03). A logistic regression with distress elicited by the video as a predictive variable reached statististical significance (ß = -0.27, p = 0.037, CI 95% 0.58-0.98). CONCLUSIONS: GCT uptake was promising, supporting a role for culturally targeted narrative video education along with a patient navigation component in increasing interest in cancer prevention and reducing healthcare disparities in HBOC genetic services. TRIAL REGISTRATION: NCT03075540 (Initial release 2/22/2017).
Assuntos
Neoplasias da Mama , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Hispânico ou Latino , Neoplasias Ovarianas , Aceitação pelo Paciente de Cuidados de Saúde , Navegação de Pacientes , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Neoplasias da Mama/etnologia , Aconselhamento Genético/psicologia , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Hispânico ou Latino/psicologia , Narração , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Neoplasias Ovarianas/etnologia , Aceitação pelo Paciente de Cuidados de Saúde/etnologia , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Gravação em VídeoRESUMO
PURPOSE: This report examines utilization of germline BRCA genetic testing among women with breast or ovarian cancer in the context of current clinical guidelines for testing. METHODS: Linked IQVIA commercial claims and electronic medical record data were used to analyze BRCA test utilization among women aged 18-64 years with newly diagnosed breast cancer or ovarian cancer during 2016-2021, excluding 2018. Log-binomial regression models were used to estimate prevalence ratios (PRs) comparing utilization of testing by cancer type, age group, race, and year. RESULTS: Among commercially insured women with newly diagnosed breast cancer (n = 19,139) or epithelial ovarian cancer (n = 1639), 50 and 47%, respectively, received germline BRCA testing during the study years. BRCA testing rates were higher among women with breast cancer aged 18-50 years (69%) compared to those aged 51-64 years (39%). Overall utilization among women with breast or ovarian cancer was slightly lower in 2021 compared to 2019 and 2020. Compared with White women with breast cancer, Asian women were less likely (PR, 0.83 [95% CI, 0.74-0.92]) to receive testing. CONCLUSION: Nearly one-third of women who had breast cancer at age 50 or younger and a majority of women with ovarian cancer had no germline BRCA testing recorded within 1 year of diagnosis. Under current (2024) guidelines, these women and their family members are eligible for genetic counseling and testing to guide preventive interventions for future cancers. Healthcare providers have an important role in offering genetic services to women and their families, ensuring that eligible women receive recommended care.
Assuntos
Neoplasias da Mama , Testes Genéticos , Neoplasias Ovarianas , Aceitação pelo Paciente de Cuidados de Saúde , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/economia , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/economia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Testes Genéticos/economia , Testes Genéticos/normas , Testes Genéticos/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Guias de Prática Clínica como Assunto , Demandas Administrativas em Assistência à Saúde/estatística & dados numéricos , Registros Eletrônicos de Saúde/estatística & dados numéricos , Seguro Saúde/economia , Seguro Saúde/estatística & dados numéricos , Aconselhamento Genético/economia , Aconselhamento Genético/normas , Aconselhamento Genético/estatística & dados numéricos , Genes BRCA1 , Genes BRCA2 , Família , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Adolescente , Adulto Jovem , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Proteína BRCA1 , Proteína BRCA2RESUMO
Background and Objectives: Hemoglobinopathies are genetic disorders of hemoglobin and are among the most common inherited diseases. The prevalence rates of sickle cell disease and thalassemia in Saudi Arabia are higher than those in other countries in the Middle East. Saudi Arabia has launched many prevention programs such as a premarital screening program, genetic counseling programs, and neonatal screening in order to reduce the incidence of genetic diseases. The former program includes the most common genetic diseases: sickle cell disease and thalassemia. Many studies conducted since the premarital program started have reported a decrease in the prevalence of sickle cell disease and thalassemia. However, all studies focus on large cities, including their subdivisions, but there is a lack of studies on subdivisions specifically. Materials and Methods: The aim of this study was to assess the prevalence, 5-year time trend, and distribution of ß-thalassemia and sickle cell traits in Al-Kharj province using the data of the PMSGC program during the period from January 2017 to February 2021. Results: A total of 21,150 individuals were screened, and 508 were diagnosed with sickle cell disease and thalassemia. Also, we showed that thalassemia was more prevalent than sickle cell disease (66% and 34%, respectively), and there was an increase in ß-thalassemia and α-thalassemia. Conclusions: Riyadh city's prevalence rate of ß-thalassemia was reported as 7 per 1000, while the current study found a prevalence rate of 5.6 per 1000 in Al-Kharj, which suggests a possible increase as a result of population growth in Al-Kharj province as part of Riyadh city. This study recommends further improvement in preventive measures in high-risk regions, as well as enhanced community awareness, to provide the highest rate of reduction for disorders.
Assuntos
Aconselhamento Genético , Hemoglobinopatias , Exames Pré-Nupciais , Humanos , Arábia Saudita/epidemiologia , Aconselhamento Genético/métodos , Aconselhamento Genético/estatística & dados numéricos , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/diagnóstico , Prevalência , Exames Pré-Nupciais/métodos , Exames Pré-Nupciais/estatística & dados numéricos , Anemia Falciforme/epidemiologia , Anemia Falciforme/diagnóstico , Feminino , Masculino , Adulto , Talassemia beta/epidemiologia , Talassemia beta/diagnóstico , Programas de Rastreamento/métodos , Programas de Rastreamento/estatística & dados numéricos , AdolescenteRESUMO
Universal tumor screening (UTS) of all newly diagnosed colorectal cancers (CRCs) for the identification of Lynch syndrome (LS) is recommended. We explored the impact of the COVID-19 pandemic on the UTS process in a safety-net university hospital to identify areas of vulnerability and opportunities for improvement. Patients undergoing resection of a primary CRC were categorized into three cohorts based on surgery date relative to the pandemic (pre-[2018,2019], early-[2020,2021] and late-[2022]). Data regarding (1) UTS performance of immunohistochemistry (IHC) for LS genes and microsatellite instability (MSI) testing; (2) referrals to cancer genetic counseling (CGC) based on mismatch repair deficient (dMMR) status and/or age < 50 years at diagnosis; (3) attendance at CGC; and (4) reasons for not attending CGC were extracted. Between 2018 and 2022, 342 patients underwent resection of a CRC. During the three time periods (pre-, early- and late-pandemic), 93%, 94% and 96% of cases were screened with at least MMR IHC, respectively. Of the patients eligible for referral to CGC in each time period, 60%, 71% and 63% had a referral submitted. Of these, 23%, 36% and 20% in each time period did not attend CGC, with the most common reason for not attending being the inability of schedulers to reach the patient. Although the COVID-19 pandemic did not cause significant variation in the different steps of the UTS process, CGC utilization remained suboptimal throughout the three time periods. Further research on barriers preventing physicians from referring patients to CGC as well as schedulers inability to reach eligible patients should be pursued.
Assuntos
COVID-19 , Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias Colorretais , Detecção Precoce de Câncer , Aconselhamento Genético , Encaminhamento e Consulta , Humanos , COVID-19/epidemiologia , Encaminhamento e Consulta/estatística & dados numéricos , Pessoa de Meia-Idade , Feminino , Masculino , Aconselhamento Genético/estatística & dados numéricos , Hospitais Universitários , Detecção Precoce de Câncer/estatística & dados numéricos , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , SARS-CoV-2 , Adulto , Idoso , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/genéticaRESUMO
PURPOSE: Tumor next generation sequencing (NGS) may identify potential germline DNA mutations associated with cancer susceptibility. We describe the frequency of tumor NGS results in patients meeting ESMO 2019 recommendations for germline genetic testing (GT) and reasons for not undergoing germline GT. METHODS: A retrospective study (Sept. 2019-Feb. 2022) in a large, urban healthcare system identified patients meeting ESMO guidelines for potentially actionable germline mutations on NGS. RESULTS: Of 3470 patients who underwent tumor NGS, 326 (9.4 %) had at least one potential actionable germline mutation. Of eligible patients, 189 (58.0 %) did not receive germline GT. Reasons for not undergoing GT include: 127 (67.2 %), not referred for GT; 30 (15.9 %), referred but did not attend genetic counseling; 32 (16.9 %), declined, died before GT, had insufficient samples, lacked insurance or lost to follow-up. Among 127 patients not referred for germline GT (39.0 % of the total eligible cohort), the most common cancer types were lung (33.0 %), colorectal (9.4 %), and cancer of unknown primary (9.4 %). Overall, 64 (50.4 %) patients not referred for germline GT had mutations in BRCA1/2 and/or Lynch syndrome genes. Of 137 patients who underwent germline GT, 86 (62.8 %) had positive GT. CONCLUSIONS: In this cohort, 60 % of the eligible population by ESMO criteria did not receive GT, most commonly due to lack of referral (over 2/3 of patients). Further, 50 % of patients not referred for GT had mutations in commonly known genes (i.e., BRCA1/2). Education on germline eligibility and reflex clinical protocols are needed to ensure patients receive germline GT.
Assuntos
Testes Genéticos , Mutação em Linhagem Germinativa , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias , Humanos , Feminino , Pessoa de Meia-Idade , Estudos Retrospectivos , Testes Genéticos/estatística & dados numéricos , Testes Genéticos/métodos , Sequenciamento de Nucleotídeos em Larga Escala/estatística & dados numéricos , Adulto , Idoso , Neoplasias/genética , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , MasculinoRESUMO
PURPOSE: To assess the prevalence of genetic counseling and germline genetic testing among patients diagnosed with kidney cancer (KCa) who meet national guidelines for genetic evaluation. MATERIALS AND METHODS: We conducted a retrospective chart review of adult patients treated between 2017 and 2022 with early onset (diagnosis at ≤ 46 years) or bilateral renal cell carcinoma. Electronic medical records were reviewed to determine rates of referral for genetic services, completion of genetic counseling, and germline genetic testing. RESULTS: Of the 123 patients who met criteria for genetic evaluation, 42 (34%) were referred to genetic counseling, 32 (26%) completed genetic counseling, and 27 (22%) underwent germline testing. Of the 24 patients with available test results, 7 (29%) had pathogenic or likely pathogenic variants, including 2 (8%) with variants in genes associated with renal cell carcinoma. CONCLUSION: Despite current guidelines recommending genetic counseling for all patients with early-onset or bilateral KCa, referral rates remain low, with only one-third of eligible patients receiving a referral. However, once referred, most patients completed counseling and testing. These findings underscore a critical gap in the implementation of genetic evaluation guidelines and highlight opportunities to improve access and streamline referral pathways for patients with KCa.
Assuntos
Carcinoma de Células Renais , Aconselhamento Genético , Testes Genéticos , Neoplasias Renais , Encaminhamento e Consulta , Humanos , Neoplasias Renais/genética , Neoplasias Renais/diagnóstico , Feminino , Estudos Retrospectivos , Masculino , Encaminhamento e Consulta/normas , Encaminhamento e Consulta/estatística & dados numéricos , Pessoa de Meia-Idade , Testes Genéticos/estatística & dados numéricos , Adulto , Aconselhamento Genético/estatística & dados numéricos , Guias de Prática Clínica como Assunto , Carcinoma de Células Renais/genéticaRESUMO
OBJECTIVE: The primary goal of this study is to examine disparities in high-risk endometrial cancer (EC) patients in relation to rates of genetic referrals (GR), testing (GT), and counseling (GC). METHODS: This is a retrospective analysis of patients with newly diagnosed EC between January 1, 2014 and September 1, 2020 at a single institution. Patients were defined as high-risk EC patients when they were 1) diagnosed at 50 years or younger, 2) had a positive family history for cancer or 3) had evidence of loss of mismatch repair protein expression on tumor immunohistochemistry. Rates of GR, GT and GC were analyzed based on race, ethnicity, primary language and insurance status. RESULTS: During the study period, 674 patients were diagnosed with EC and 249 (36.9%) were considered high-risk EC patients. Among high-risk patients, 128 (51.2%) were referred to GT and GC. Of those referred, 103 (80.5%) underwent GT and 85 (66.4%) completed GC. Out of all high-risk patients, 20 (18.4%) were positive for LS on GT and 29 (28.2%) had VUS results. In multivariate analysis, the odds of GT and GC referral were lower among patients who identified as Hispanic (OR=0.40; 95% CI=0.19-0.87; p=0.020). Patients who identified as black were less likely to receive GC when compared to patients of other races (p=0.030). CONCLUSION: It is our hope that through this data we will increase awareness around existing disparities in genetic evaluation for patients with EC and ultimately create strategies to improve equitable access to care for all patients.
Assuntos
Neoplasias do Endométrio , Aconselhamento Genético , Testes Genéticos , Disparidades em Assistência à Saúde , Humanos , Feminino , Neoplasias do Endométrio/genética , Neoplasias do Endométrio/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Disparidades em Assistência à Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde/etnologia , Testes Genéticos/estatística & dados numéricos , Adulto , Encaminhamento e Consulta/estatística & dados numéricos , Idoso , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para DoençaRESUMO
PURPOSE: Limited data exist on managing hereditary breast cancer in low- middle-income countries (LMICs). We assessed proband and cascade genetic testing, and risk-reducing measures in a South African regional breast cancer service. METHODS: We analysed records from 534 consecutive female probands receiving genetic counselling for breast cancer and their 115 relatives who attended genetic counselling. Demographic and clinical data, family pedigrees and genetic test data were collated from hospital clinical records, regional laboratory data, screening appointments and radiological records. RESULTS: Test uptake in probands was high (86.9%), although cost was a deterrent in some. There were 83 (19.6%) probands who tested positive, and 45.0% of them had one or more family members have testing. This resulted in 9.2% of relatives (first- to third-degree) having cascade testing. Family testing was associated with a stronger family history of cancer, female gender and being a first-degree relative (uptake was 25.6% in female first-degree relatives). Risk-reducing mastectomy was accepted by 52.6% of eligible female family members, while mammographic surveillance (30%) and bilateral salpingo-oophorectomy (15.4%) were less frequent. CONCLUSION: Genetic testing was well accepted by probands, but uptake was low in family members. Overall, one family member carrying a pathogenic variant was identified for every 13 probands receiving genetic counselling and for every 11 probands tested. Risk-reducing measures were taken up by over half of those eligible. Limited uptake of cascade testing and variable uptake of risk-reducing options impacted the programme. To our knowledge, this is the first study in Africa of the real-world effectiveness of a breast cancer genetic service.
Assuntos
Neoplasias da Mama , Serviços em Genética , Testes Genéticos , Humanos , Feminino , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/prevenção & controle , África do Sul , Pessoa de Meia-Idade , Testes Genéticos/estatística & dados numéricos , Adulto , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Idoso , Linhagem , Detecção Precoce de Câncer , MamografiaRESUMO
PURPOSE: This study introduces an integrated approach using structured and unstructured data from an electronic health record to identify and characterize patient utilization of hereditary cancer genetic testing among patients with metastatic castration-resistant prostate cancer (mCRPC). Secondary objectives were to describe factors associated with the receipt of testing. METHODS: This retrospective cohort study included a cohort of Veterans diagnosed with mCRPC from January 2016 to December 2021. Receipt of genetic testing was identified using structured and unstructured data. Time to testing, age at testing, and testing rate were analyzed. Sociodemographic and clinical factors associated with receipt of hereditary cancer genetic testing were identified including race, marital status, rurality, Charlson comorbidity index (CCI), and genetic counseling. RESULTS: Among 9,703 Veterans with mCRPC who did not decline testing, 16% received genetic testing, with nearly half of the tests occurring in 2020-2021. Factors positively associated with genetic testing included receipt of genetic counseling (adjusted odds ratio [aOR], 11.07 [95% CI, 3.66 to 33.51]), enrollment in clinical trial (aOR, 7.42 [95% CI, 5.59 to 9.84]), and treatment at a Prostate Cancer Foundation-Veterans Affairs Center of Excellence (aOR, 1.43 [95% CI, 1.04 to 1.95]). Negative associations included older age (aOR, 0.95 [95% CI, 0.93 to 0.97]) and severe CCI score (aOR, 0.82 [95% CI, 0.71 to 0.94]). Trends revealed that time to testing decreased per diagnosis year while median age at testing increased per year. CONCLUSION: Although testing rates are still suboptimal, they have increased steadily since 2016. Educating Veterans about the benefits of genetic testing may further improve testing rates.
Assuntos
Testes Genéticos , Neoplasias de Próstata Resistentes à Castração , Veteranos , Humanos , Masculino , Neoplasias de Próstata Resistentes à Castração/genética , Neoplasias de Próstata Resistentes à Castração/epidemiologia , Neoplasias de Próstata Resistentes à Castração/diagnóstico , Neoplasias de Próstata Resistentes à Castração/patologia , Testes Genéticos/estatística & dados numéricos , Testes Genéticos/métodos , Veteranos/estatística & dados numéricos , Idoso , Estudos Retrospectivos , Pessoa de Meia-Idade , Registros Eletrônicos de Saúde/estatística & dados numéricos , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Fonte de InformaçãoRESUMO
PURPOSE: Despite guidelines recommending genetic testing for all cases of very young breast cancer (VYBC), poor uptake has been reported. This study aimed to examine genetic testing referral rates and outcomes over a 20-year period within the Canadian context. METHODS: A retrospective chart review of all incident VYBC cases (at or below 35 years of age) between January 1, 2000 and December 31, 2019 was conducted. Descriptive statistics were used to summarize demographic factors and logistic regression analyses were performed to identify the predictors associated with referral for genetic counseling and positive genetic test results. RESULTS: 628 women were identified with VYBC. Most women presented with stage 2 (42%), hormone receptor-positive (HR +) and HER2-negative (54%) invasive ductal carcinoma (94%). Over the study period, referral rates increased from 44 to 84%. Of women initially tested for BRCA1/BRCA2, only 21% were referred for updated panel testing. Among those tested, 19% had a pathogenic variant, 21% of whom reported no family history of cancer. Predictors of referral included stage 0-2 disease while predictors of positive test results included a second breast cancer diagnosis and positive family history. CONCLUSION: Despite guidelines based on age alone, barriers to referral persist. Results of this study suggest the need for new models of care that ensure equitable access to genetic testing for all women diagnosed with VYBC regardless of family history, ethnicity, or disease stage. As genetic testing criteria evolve, protocols must address these barriers to prevent missed opportunities for testing.
Assuntos
Neoplasias da Mama , Aconselhamento Genético , Testes Genéticos , Encaminhamento e Consulta , Humanos , Feminino , Neoplasias da Mama/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/patologia , Encaminhamento e Consulta/estatística & dados numéricos , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/estatística & dados numéricos , Adulto , Canadá/epidemiologia , Estudos Retrospectivos , Adulto Jovem , Predisposição Genética para DoençaRESUMO
BACKGROUND: Research on social determinants of genetic testing uptake is limited, particularly among unaffected patients with inherited cancer susceptibility. METHODS: We conducted a secondary analysis of the Broadening the Reach, Impact, and Delivery of Genetic Services (BRIDGE) trial at University of Utah Health and NYU Langone Health, involving 2,760 unaffected patients meeting genetic testing criteria for inherited cancer susceptibility and who were initially randomized to either an automated chatbot or an enhanced standard of care (SOC) genetic services delivery model. We used encounters from the electronic health record (EHR) to measure the uptake of genetic counseling and testing, including dichotomous measures of (1) whether participants initiated pre-test cancer genetic services, (2) completed pre-test cancer genetic services, (3) had genetic testing ordered, and (4) completed genetic testing. We merged zip codes from the EHR to construct census tract-weighted social measures of the Social Vulnerability Index. Multilevel models estimated associations between social vulnerability and genetic services utilization. We tested whether intervention condition (i.e., chatbot vs. SOC) moderated the association of social vulnerability with genetic service utilization. Covariates included study arm, study site, age, sex, race/ethnicity, language preference, rural residence, having a recorded primary care provider, and number of algorithm criteria met. RESULTS: Patients living in areas of medium socioeconomic status (SES) vulnerability had lower odds of initiating pre-test genetic services (adjusted OR [aOR] = 0.81, 95% CI: 0.67, 0.98) compared to patients living in low SES vulnerability areas. Patients in medium household vulnerability areas had a lower likelihood of completing pre-test genetic services (aOR = 0.80, 95% CI: 0.66-0.97) and having genetic testing ordered (aOR = 0.79, 95% CI: 0.63-0.99) relative to patients in low household vulnerability areas. We did not find that social vulnerability associations varied by intervention condition. CONCLUSIONS: These results underscore the importance of investigating social and structural mechanisms as potential pathways to increasing genetic testing uptake among patients with increased inherited risk of cancer. Census information is publicly available but seldom used to assess social determinants of genetic testing uptake among unaffected populations. Existing and future cohort studies can incorporate census data to derive analytic insights for clinical scientists. TRIAL REGISTRATION: BRIDGE was registered as NCT03985852 on June 6, 2019 at clinicaltrials.gov.
Assuntos
Predisposição Genética para Doença , Serviços em Genética , Testes Genéticos , Neoplasias , Aceitação pelo Paciente de Cuidados de Saúde , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Neoplasias/genética , Neoplasias/diagnóstico , Adulto , Testes Genéticos/estatística & dados numéricos , Serviços em Genética/estatística & dados numéricos , Aconselhamento Genético/estatística & dados numéricos , Idoso , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Determinantes Sociais da Saúde , Populações Vulneráveis , Registros Eletrônicos de Saúde , UtahRESUMO
Importance: Between 5% and 10% of breast cancer cases are associated with an inherited germline pathogenic or likely pathogenic variant (GPV) in a breast cancer susceptibility gene (BCSG), which could alter local and systemic therapy recommendations. Traditional genetic testing criteria misses a proportion of these cases. Objective: To evaluate the prevalence and clinicopathological associations of GPVs in 2 groups of BCSGs among an ethnically diverse cohort of women with newly diagnosed breast cancer. Design, Setting, and Participants: This cross-sectional study, conducted at 3 Montreal hospitals between September 2019 and April 2022, offered universal genetic counseling and testing to all women with a first diagnosis of invasive breast cancer. Women were offered an obligatory primary panel of BRCA1, BRCA2, and PALB2 (B1B2P2) and an optional secondary panel of 14 additional BCSGs. Eligible participants were women 18 years of age or older who received a diagnosis of a first primary invasive breast cancer not more than 6 months before the time of referral to the study. Data were analyzed from November 2023 to June 2024. Results: Of 1017 referred patients, 805 were eligible and offered genetic counseling and testing, and 729 of those 805 (90.6%) consented to be tested. The median age at breast cancer diagnosis was 53 years (range, 23-91 years), and 65.4% were White and of European ancestry. Fifty-four GPVs were identified in 53 patients (7.3%), including 39 patients (5.3%) with B1B2P2 and 15 patients (2.1%) with 6 of the 14 secondary panel BCSGs (ATM, BARD1, BRIP1, CHEK2, RAD51D, and STK11). On multivariable analysis, clinical factors independently associated with B1B2P2-positive status included being younger than 40 years of age at diagnosis (odds ratio [OR], 6.83; 95% CI, 2.22-20.90), triple-negative breast cancer (OR, 3.19; 95% CI, 1.20-8.43), high grade disease (OR, 1.68; 95% CI, 1.05-2.70), and family history of ovarian cancer (OR, 9.75; 95% CI, 2.65-35.85). Of 39 B1B2P2-positive patients, 13 (33.3%) were eligible for poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitors. Conclusions and Relevance: In this cross-sectional universal genetic testing study of women with newly diagnosed invasive breast cancer, the prevalence of GPVs was 7.3%, with 5.3% of patients testing positive for B1B2P2. Among B1B2P2-women women, one-third were eligible for PARP inhibitors.
Assuntos
Neoplasias da Mama , Predisposição Genética para Doença , Testes Genéticos , Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Estudos Transversais , Adulto , Idoso , Proteína do Grupo de Complementação N da Anemia de Fanconi/genética , Aconselhamento Genético/estatística & dados numéricos , Proteína BRCA1/genética , Proteína BRCA2/genéticaRESUMO
BACKGROUND: Pancreatic ductal adenocarcinoma (PDAC) has a poor prognosis, with a 5-year overall survival rate of 10%. In November 2018, NCCN recommended that all patients with PDAC receive genetic counseling (GC) and germline testing regardless of family history. We hypothesized that patients with PDAC were more likely to be referred for testing after this change to the guidelines, regardless of presumed predictive factors, and that compliance would be further improved following the implementation of a hereditary cancer clinic (HCC). METHODS: We conducted a single-institution retrospective analysis of patients diagnosed with PDAC from June 2017 through December 2021 at University of California, Irvine. We compared rates of genetics referral among patients in different diagnostic eras: the 18-month period before the NCCN Guideline change (pre-NCCN era: June 2017 through November 2018), 14 months following the change (post-NCCN era: December 2018 through January 2020), and 18 months after the creation of an HCC (HCC era: June 2020 through December 2021). Family and personal cancer history, genetics referral patterns, and results of GC were recorded. Data were compared using chi-square, Fisher exact, and multivariate analyses. RESULTS: A total of 335 patients were treated for PDAC (123 pre-NCCN, 109 post-NCCN, and 103 HCC) at University of California, Irvine. Demographics across groups were comparable. Prior to the guideline changes, 30% were referred to GC compared with 54.7% in the post-NCCN era. After the implementation of the HCC, 77.4% were referred to GC (P<.0001). The odds ratio (OR) for referral to GC among patients with a positive family history of cancer progressively decreased following the change (pre-NCCN era: OR, 11.90 [95% CI, 3.00-80.14]; post-NCCN era: OR, 3.39 [95% CI, 1.13-10.76]; HCC era: OR, 3.11 [95% CI, 0.95-10.16]). CONCLUSIONS: The 2018 updates to the NCCN Guidelines for PDAC recommending germline testing for all patients with PDAC significantly increased GC referral rates at our academic medical center. Implementation of an HCC further boosted compliance with guidelines.
Assuntos
Testes Genéticos , Mutação em Linhagem Germinativa , Fidelidade a Diretrizes , Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/terapia , Feminino , Masculino , Pessoa de Meia-Idade , Testes Genéticos/normas , Testes Genéticos/métodos , Fidelidade a Diretrizes/estatística & dados numéricos , Estudos Retrospectivos , Idoso , Adulto , Carcinoma Ductal Pancreático/genética , Carcinoma Ductal Pancreático/diagnóstico , Carcinoma Ductal Pancreático/terapia , Predisposição Genética para Doença , Aconselhamento Genético/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Encaminhamento e Consulta/normas , Guias de Prática Clínica como AssuntoRESUMO
BACKGROUND: Currently, racial disparities exist in access to genetic testing. Recent developments have helped narrow the gap in accessibility. The purpose of this study was to determine whether racial disparities in genetic consultation attendance and completion of genetic testing persist, and, if so, factors that contribute to under-utilization of these resources. METHODS: A single-institution retrospective review of breast patients referred for genetic counseling between 2017 and 2019 was performed. Univariate and multivariate logistic regression evaluated factors associated with genetic counseling attendance and genetic testing. RESULTS: A total of 596 patients were referred for genetic counseling: 433 (72.7%) white; 138 (23.2%) black; and 25 (4.2%) other or unknown. In multivariate analysis, black patients, patients without breast cancer family history, and patients without a current cancer diagnosis, classified as high risk, were significantly less likely to attend their genetics appointment (p = 0.010, p = 0.007, p = 0.005, respectively). Age, insurance type, distance from facility, and need for chemotherapy did not significantly impact consult completion rate. Of the patients who completed a genetic consult, 84.4% (n = 248) had genetic testing and 17.7% (n = 44) had a pathogenic variant. For patients who attended counseling, there were no significant factors that were predictive with receipt of genetic testing. CONCLUSIONS: In this study, there was a significant association between race and attending genetic counseling. Once counseled, most patients went on to receive genetic testing, and racial disparities in testing disappeared, emphasizing the value of providing additional education about the importance and purpose of genetic testing.
Assuntos
Neoplasias da Mama , Aconselhamento Genético , Testes Genéticos , Disparidades em Assistência à Saúde , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Negro ou Afro-Americano , Neoplasias da Mama/genética , Neoplasias da Mama/diagnóstico , Seguimentos , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos , Prognóstico , Encaminhamento e Consulta/estatística & dados numéricos , Estudos Retrospectivos , População Branca/estatística & dados numéricos , População Branca/genética , BrancosRESUMO
OBJECTIVES: To identify predictors of referral and completion of germline genetic testing among newly diagnosed ovarian cancer patients, with a focus on geographic social deprivation, oncologist-level practices, and time between diagnosis and completion of testing. METHODS: Clinical and sociodemographic data were abstracted from medical records of patients newly diagnosed with ovarian cancer between 2014 and 2019 in the University of North Carolina Health System. Factors associated with referral for genetic counseling, completion of germline testing, and time between diagnosis and test results were identified using multivariable regression. RESULTS: 307/459 (67%) patients were referred for genetic counseling and 285/459 (62%) completed testing. The predicted probability of test completion was 0.83 (95% CI: 0.77-0.88) for patients with a referral compared to 0.27 (95% CI: 0.18-0.35) for patients without a referral. The predicted probability of referral was 0.75 (95% CI: 0.69-0.82) for patients at the 25th percentile of ZIP code-level Social Deprivation Index (SDI) and 0.67 (0.60-0.74) for patients at the 75th percentile of SDI. Referral varied by oncologist, with predicted probabilities ranging from 0.47 (95% CI: 0.32-0.62) to 0.93 (95% CI: 0.85-1.00) across oncologists. The median time between diagnosis and test results was 137 days (IQR: 55-248 days). This interval decreased by a predicted 24.46 days per year (95% CI: 37.75-11.16). CONCLUSIONS: We report relatively high germline testing and a promising trend in time from diagnosis to results, with variation by oncologist and patient factors. Automated referral, remote genetic counseling and sample collection, reduced out-of-pocket costs, and educational interventions should be explored.
Assuntos
Aconselhamento Genético , Testes Genéticos , Mutação em Linhagem Germinativa , Neoplasias Ovarianas , Encaminhamento e Consulta , Humanos , Feminino , Encaminhamento e Consulta/estatística & dados numéricos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/diagnóstico , Pessoa de Meia-Idade , Testes Genéticos/estatística & dados numéricos , Testes Genéticos/métodos , Aconselhamento Genético/estatística & dados numéricos , Adulto , Idoso , North Carolina , Institutos de Câncer/estatística & dados numéricos , Estudos RetrospectivosRESUMO
OBJECTIVE: The American Society of Clinical Oncology recommends all patients with high-grade serous ovarian carcinoma (HGSC) undergo germline genetic testing. Genetic consultation rates in Ontario, Canada, only reached 13.3% in 2011. In 2016, PARP inhibitor maintenance therapy became available in Ontario for BRCA-positive HGSC patients. Given expanding treatment options, we re-examined genetic consultation rates among HGSC patients. METHODS: This retrospective cohort study identified patients diagnosed with HGSC between 2012 and 2019 using population-based administrative data from Ontario. Genetics consultations were identified using Ontario Health Insurance Plan billing codes. Consultation rates over time were analyzed using Cochran-Armitage trend test and segmental regression analysis. Multivariable analysis identified factors associated with attending genetics consultation. RESULTS: This study included 4645 HGSC patients. The mean age was 64.2 years (±SD 12.3); 56.3% had stage 3-4 disease. Overall, approximately 35% attended genetics consultations. The genetic consultation rate per year increased significantly from 21.6% to 42.6% (P < 0.001). Shorter times between diagnosis and genetics consult were observed after PARP inhibitors became available (68.1 vs 34.1 weeks, P < 0.001). Patients treated at designated cancer centers (odds ratio [OR] 2.11, P < 0.001), diagnosed in later years (OR 1.33, P < 0.001), and from higher income groups (P < 0.05) were more likely to attend genetics consultation; older patients were less likely (OR 0.98, P < 0.001). After PARP inhibitors became available, consultation rates plateaued (P < 0.001). CONCLUSIONS: Between 2012 and 2019, genetic consultation rates improved significantly among HGSC patients; however, a large proportion of patients never attended consultation. Further exploration of barriers to care is warranted to improve consultation rates and ensure equitable access to care.
Assuntos
Cistadenocarcinoma Seroso , Neoplasias Ovarianas , Inibidores de Poli(ADP-Ribose) Polimerases , Encaminhamento e Consulta , Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Inibidores de Poli(ADP-Ribose) Polimerases/uso terapêutico , Estudos Retrospectivos , Ontário , Idoso , Encaminhamento e Consulta/estatística & dados numéricos , Cistadenocarcinoma Seroso/tratamento farmacológico , Cistadenocarcinoma Seroso/genética , Testes Genéticos/estatística & dados numéricos , Adulto , Aconselhamento Genético/estatística & dados numéricosRESUMO
Genetic testing for cancer predisposition has been curtailed by the cost of sequencing, and testing has been restricted by eligibility criteria. As the cost of sequencing decreases, the question of expanding multi-gene cancer panels to a broader population arises. We evaluated how many additional actionable genetic variants are returned by unrestricted panel testing in the private sector compared to those which would be returned by adhering to current NHS eligibility criteria. We reviewed 152 patients referred for multi-gene cancer panels in the private sector between 2014 and 2016. Genetic counselling and disclosure of all results was standard of care provided by the Consultant. Every panel conducted was compared to current eligibility criteria. A germline pathogenic / likely pathogenic variant (P/LP), in a gene relevant to the personal or family history of cancer, was detected in 15 patients (detection rate of 10%). 46.7% of those found to have the P/LP variants (7 of 15), or 4.6% of the entire set (7 of 152), did not fulfil NHS eligibility criteria. 46.7% of P/LP variants in this study would have been missed by national testing guidelines, all of which were actionable. However, patients who do not fulfil eligibility criteria have a higher Variant of Uncertain Significance (VUS) burden. We demonstrated that the current England NHS threshold for genetic testing is missing pathogenic variants which would alter management in 4.6%, nearly 1 in 20 individuals. However, the clinical service burden that would ensue is a detection of VUS of 34%.
Assuntos
Biomarcadores Tumorais/genética , Aconselhamento Genético/normas , Testes Genéticos/normas , Neoplasias/epidemiologia , Medicina Estatal/normas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Inglaterra/epidemiologia , Feminino , Aconselhamento Genético/estatística & dados numéricos , Predisposição Genética para Doença , Testes Genéticos/estatística & dados numéricos , Mutação em Linhagem Germinativa , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Neoplasias/diagnóstico , Neoplasias/genética , Estudos Retrospectivos , Medição de Risco/normas , Medição de Risco/estatística & dados numéricos , Adulto JovemRESUMO
INTRODUCTION: Lobular carcinoma in situ (LCIS), atypical ductal and lobular hyperplasia (AH) increase breast cancer risk. We examined risk management recommendations (RMR) and acceptance in AH/LCIS. METHODS: All patients with AH/LCIS on core needle biopsy from 2013 to 2016 at our institution were identified; cancer patients were excluded. Univariate and multivariate analysis examined factors associated with management. RESULTS: 98 % of patients were evaluated by breast surgeons and 53 % underwent risk model calculation (RC). 77 % had new RMR. RMR of MRI screening (MRI), genetic counselling (GC) and medical oncology (MO) referral were 41 %, 18 %, 77 %, respectively. MRI screening was more likely recommended in those with strong family history (p = 0.01), and high RC (p < 0.001). Uptake of at least one RMR did not occur in 84 % of patients. Use of RC correlated with MO acceptance (p = 0.049). CONCLUSIONS: Diagnosis of atypia has the potential to change risk management for most, however only 16 % of patients accepted all RMR.
Assuntos
Carcinoma de Mama in situ/diagnóstico , Neoplasias da Mama/prevenção & controle , Mama/patologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Comportamento de Redução do Risco , Adulto , Mama/diagnóstico por imagem , Mama/cirurgia , Carcinoma de Mama in situ/epidemiologia , Carcinoma de Mama in situ/patologia , Carcinoma de Mama in situ/terapia , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Feminino , Aconselhamento Genético/estatística & dados numéricos , Humanos , Hiperplasia/diagnóstico , Hiperplasia/epidemiologia , Hiperplasia/patologia , Hiperplasia/terapia , Imageamento por Ressonância Magnética/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Pessoa de Meia-Idade , Medição de Risco/estatística & dados numéricosRESUMO
BACKGROUND: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines. METHODS: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. RESULTS: NCCN guidelines identify 13.2% of women, ACMG/NSGC guidelines identify 7.1% of women, and SGO guidelines identify 7.0% of women from the Slovenian population, while 6.2% of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer. CONCLUSIONS: We identified 13.7% of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying nearly twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.