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1.
Health Expect ; 2023 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-37705192

RESUMO

INTRODUCTION: Patient decision aids (PtDA) complement shared decision-making with healthcare professionals and improve decision quality. However, PtDA often lack theoretical underpinning. We are codesigning a PtDA to help people with increased genetic cancer risks manage choices. The aim of an innovative workshop described here was to engage with the people who will use the PtDA regarding the theoretical underpinning and logic model outlining our hypothesis of how the PtDA would lead to more informed decision-making. METHODS: Short presentations about psychological and behavioural theories by an expert were interspersed with facilitated, small-group discussions led by patients. Patients were asked what is important to them when they make health decisions, what theoretical constructs are most meaningful and how this should be applied to codesign of a PtDA. An artist created a visual summary. Notes from patient discussions and the artwork were analysed using reflexive thematic analysis. RESULTS: The overarching theme was: It's personal. Contextual factors important for decision-making were varied and changed over time. There was no one 'best fit' theory to target support needs in a PtDA, suggesting an inductive, flexible framework approach to programme theory would be most effective. The PtDA logic model was revised based on patient feedback. CONCLUSION: Meaningful codesign of PtDA including discussions about the theoretical mechanisms through which they support decision-making has the potential to lead to improved patient care through understanding the intricately personal nature of health decisions, and tailoring content and format for holistic care. PATIENT CONTRIBUTION: Patients with lived experience were involved in codesign and coproduction of this workshop and analysis as partners and coauthors. Patient discussions were the primary data source. Facilitators provided a semi-structured guide, but they did not influence the patient discussions or provide clinical advice. The premise of this workshop was to prioritise the importance of patient lived experience: to listen, learn, then reflect together to understand and propose ideas to improve patient care through codesign of a PtDA.

2.
Genet Med ; 22(8): 1401-1406, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32376981

RESUMO

PURPOSE: To better understand the longitudinal risks and benefits of telephone disclosure of genetic test results in the era of multigene panel testing. METHODS: Adults who were proceeding with germline cancer genetic testing were randomized to telephone disclosure (TD) with a genetic counselor or in-person disclosure (IPD) (i.e., usual care) of test results. All participants who received TD were recommended to return to meet with a physician to discuss medical management recommendations. RESULTS: Four hundred seventy-three participants were randomized to TD and 497 to IPD. There were no differences between arms for any cognitive, affective, or behavioral outcomes at 6 and 12 months. Only 50% of participants in the TD arm returned for the medical follow-up appointment. Returning was associated with site (p < 0.0001), being female (p = 0.047), and not having a true negative result (p < 0.002). Mammography was lower at 12 months among those who had TD and did not return for medical follow-up (70%) compared with those who had TD and returned (86%) and those who had IPD (87%, adjusted p < 0.01). CONCLUSION: Telephone disclosure of genetic test results is a reasonable alternative to in-person disclosure, but attention to medical follow-up may remain important for optimizing appropriate use of genetic results.


Assuntos
Revelação , Aconselhamento Genético , Adulto , Feminino , Seguimentos , Predisposição Genética para Doença , Testes Genéticos , Humanos , Telefone
3.
Clin Genet ; 95(2): 293-301, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30417332

RESUMO

Telephone disclosure of cancer genetic test results is noninferior to in-person disclosure. However, how patients who prefer in-person communication of results differ from those who agree to telephone disclosure is unclear but important when considering delivery models for genetic medicine. Patients undergoing cancer genetic testing were recruited to a multicenter, randomized, noninferiority trial (NCT01736345) comparing telephone to in-person disclosure of genetic test results. We evaluated preferences for in-person disclosure, factors associated with this preference and outcomes compared to those who agreed to randomization. Among 1178 enrolled patients, 208 (18%) declined randomization, largely given a preference for in-person disclosure. These patients were more likely to be older (P = 0.007) and to have had multigene panel testing (P < 0.001). General anxiety (P = 0.007), state anxiety (P = 0.008), depression (P = 0.011), cancer-specific distress (P = 0.021) and uncertainty (P = 0.03) were higher after pretest counseling. After disclosure of results, they also had higher general anxiety (P = 0.003), depression (P = 0.002) and cancer-specific distress (P = 0.043). While telephone disclosure is a reasonable alternative to in-person disclosure in most patients, some patients have a strong preference for in-person communication. Patient age, distress and complexity of testing are important factors to consider and requests for in-person disclosure should be honored when possible.


Assuntos
Comunicação , Síndrome Hereditária de Câncer de Mama e Ovário/epidemiologia , Síndromes Neoplásicas Hereditárias/epidemiologia , Preferência do Paciente , Revelação da Verdade , Adulto , Idoso , Biomarcadores Tumorais , Feminino , Aconselhamento Genético/ética , Aconselhamento Genético/métodos , Predisposição Genética para Doença , Testes Genéticos/ética , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Avaliação de Resultados em Cuidados de Saúde , Cooperação do Paciente , Telefone
4.
J Natl Compr Canc Netw ; 14(6): 795-806, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-27283171

RESUMO

Through tumor genomic profiling (TGP), existing and novel treatments can be selected to better target the specific dysregulated molecular pathways that drive growth and spread of a patient's tumor. Although the primary purpose of TGP is to detect targetable somatic mutations for treatment, TGP may also uncover germline mutations with important implications for patients and family members. Oncology care providers should be aware of the hereditary cancer risks associated with genes commonly tested by TGP. Further, patients should be informed about the possible discovery of hereditary cancer risk information and the relevance of this information to their health and that of family members, and should have their preferences toward further evaluation of hereditary risk information that could be revealed by TGP documented in the medical record and followed.


Assuntos
Genômica/métodos , Oncologia/métodos , Medicina de Precisão/métodos , Humanos
5.
J Genet Couns ; 25(3): 472-82, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26455498

RESUMO

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women's perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N = 272; UC, N = 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95 % CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95 % CI = 0.40-0.80) and emotional recognition (OR = 0.53, 95 % CI = 0.37-0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR = 3.06, 95 % CI = 1.39-6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR = 0.80, 95 % CI = 0.39-1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.


Assuntos
Neoplasias da Mama/psicologia , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Telefone , Adulto , Neoplasias da Mama/genética , Feminino , Aconselhamento Genético , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Satisfação do Paciente , Avaliação de Programas e Projetos de Saúde , Autorrelato
6.
J Med Internet Res ; 18(2): e23, 2016 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-26831751

RESUMO

BACKGROUND: Videoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available. OBJECTIVE: To evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers. METHODS: Patients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry. RESULTS: A total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera--post-V1: 52/57 (91%); post-V2: 39/41 (95%)--and that their privacy was respected--post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information--post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor--post-V1: 47/57 (82%); post-V2: 39/41 (95%)--51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase. CONCLUSIONS: Remote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.


Assuntos
Serviços de Saúde Comunitária/métodos , Atenção à Saúde/métodos , Aconselhamento Genético/métodos , Neoplasias/genética , Telemedicina/métodos , Comunicação por Videoconferência/normas , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação do Paciente
7.
Genet Med ; 17(6): 485-92, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25297947

RESUMO

PURPOSE: Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. METHODS: Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. RESULTS: In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. CONCLUSION: A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.


Assuntos
Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos/métodos , Consentimento Livre e Esclarecido , Modelos Teóricos , Neoplasias/diagnóstico , Neoplasias/genética , Testes Genéticos/ética , Humanos
8.
J Surg Oncol ; 111(1): 9-17, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24992205

RESUMO

Advances in genome sequencing technology have fostered a new era of clinical genomic medicine. Genetic counselors, who have begun to support patients undergoing multi-gene panel testing for hereditary cancer risk, will review brief clinical vignettes, and discuss early experiences with clinical genomic testing. Their experiences will frame a discussion about how current testing may challenge patient understanding and expectations toward the evaluation of cancer risk and downstream preventive behaviors.


Assuntos
Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Neoplasias/genética , Neoplasias/prevenção & controle , Pacientes/psicologia , Médicos/psicologia , Medicina de Precisão , Predisposição Genética para Doença , Genômica , Humanos , Percepção
9.
J Natl Compr Canc Netw ; 12(9): 1339-46, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25190699

RESUMO

Next-generation sequencing technologies have ushered in the capability to assess multiple genes in parallel for genetic alterations that may contribute to inherited risk for cancers in families. Thus, gene panel testing is now an option in the setting of genetic counseling and testing for cancer risk. This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations. Given the potential issues for patients and their families, gene panel testing for inherited cancer risk is recommended to be offered in conjunction or consultation with an experienced cancer genetic specialist, such as a certified genetic counselor or geneticist, as an integral part of the testing process.


Assuntos
Testes Genéticos/métodos , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos/ética , Humanos , Penetrância , Risco
10.
J Genet Couns ; 23(4): 618-32, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24569857

RESUMO

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.


Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/métodos , Guias como Assunto , Neoplasias da Mama/diagnóstico , Feminino , Humanos , Masculino , Linhagem
11.
Fam Cancer ; 23(4): 591-598, 2024 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-38954285

RESUMO

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.


Assuntos
Encaminhamento e Consulta , Humanos , Medição de Risco/métodos , Feminino , Masculino , Encaminhamento e Consulta/estatística & dados numéricos , Predisposição Genética para Doença , Inquéritos e Questionários , Neoplasias/genética , Neoplasias/diagnóstico , Detecção Precoce de Câncer/métodos , Pessoa de Meia-Idade , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Adulto , Serviços em Genética , Anamnese , Idoso
12.
J Genet Couns ; 22(1): 101-7, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22736212

RESUMO

Little is known about psychological distress among women of African descent who are at high risk for a BRCA mutation. This is a group for whom breast cancer risk reduction is critical due to the group's high rates of breast cancer mortality. Distress is important to consider as it may reduce the potential benefit of genetic counseling and negatively affect decision making related to risk reduction. The goals of the current study were to examine breast cancer-specific distress and depressive symptoms in women of African descent at who are at high risk for a BRCA mutation and to identify background factors associated with these outcomes. Participants were 148 high-risk African American and Caribbean women who were part of a larger study that offered participants BRCA counseling at no cost. Participants completed the Impact of Events Scale, which assessed breast cancer-specific distress, and the Center of Epidemiological Studies-Depression Scale, which assessed depressive symptoms. Results of analyses revealed that almost half of the sample achieved scores indicating high and clinically significant breast cancer-specific distress, while almost one-third had clinically significant depression scores. Results further showed that low income was significantly associated with cancer-specific distress, while having a cancer diagnosis was significantly associated with depressive symptoms. These results underscore the need for targeted psychological support throughout the genetic risk assessment process for this particular high-risk group.


Assuntos
População Negra , Genes BRCA1 , Genes BRCA2 , Mutação , Estresse Psicológico , Feminino , Humanos
13.
BJGP Open ; 7(4)2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37591554

RESUMO

BACKGROUND: Family history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention, and Early Detection (SPED). Family History Questionnaire Service (FHQS) is a resource-efficient patient-facing online tool to facilitate this. In the UK, cancer risk assessment is usually only offered to concerned individuals proactively self-presenting to their GP, leading to inequity in accessing SPED in the community. AIM: To improve access to community cancer genetic risk assessment and explore barriers to uptake. DESIGN & SETTING: Service development project of a digital pathway using the FHQS for cancer risk assessment across four general practices within the clinical remit of the South West Thames Centre for Genomics (SWTCG). METHOD: 3100 individuals aged 38-50 years were invited to complete the FHQS through either text message or email. A random selection of 100 non-responders were contacted to determine barriers to uptake. RESULTS: In total, n = 304/3100 (10%) registered for the FHQS. Responders were more likely to be British (63% vs 47%, P<0.001), speak English as their main language (92% vs 76%, P<0.001), and not require an interpreter (99.6% vs 94.9%, P = 0.001). Of 304 responders, 158 (52%) were automatically identified as at population-risk without full family history review. Of the remaining 146 responders, 52 (36%) required either additional screening referral (n = 23), genetics referral (n = 15), and/or advice to relatives (n = 18). Of 100 non-responders contacted, eight had incorrect contact details and 53 were contactable. Reasons for not responding included not receiving invitation details (n = 26), losing the invitation (n = 5), or forgetting (n = 4). CONCLUSION: The FHQS can be used as part of a low-resource primary care pathway to identify individuals in the community above population-risk for cancer requiring action. This study highlighted barriers to uptake requiring consideration to maximise impact and minimise inequity.

14.
J Hosp Palliat Nurs ; 23(4): 360-366, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34081632

RESUMO

Patients often receive burdensome care at the end of life in the form of interventions that may need to be removed. Heated high-flow oxygen delivered through a nasal cannula (HHFNC) is one such intervention that can be delivered in the hospital yet is rarely available outside of this setting. During the COVID-19 (coronavirus disease 2019) pandemic, health care systems continue to face the possibility of rationing critical life-sustaining equipment that may include HHFNC. We present a clinical protocol designed for weaning HHFNC to allow a natural death and ensuring adequate symptom management throughout the process. This was a retrospective chart review of 8 patients seen by an inpatient palliative care service of an academic tertiary referral hospital who underwent terminal weaning of HHFNC using a structured protocol to manage dyspnea. Eight patients with diverse medical diagnoses, including COVID-19 pneumonia, underwent terminal weaning of HHFNC according to the clinical protocol with 4 down-titrations of approximately 25% for both fraction of inspired oxygen and liter flow with preemptive boluses of opioid and benzodiazepine. Clinical documentation supported good symptom control throughout the weaning process. This case series provides preliminary evidence that the clinical protocol proposed has the ability to ensure comfort through terminal weaning of HHFNC.


Assuntos
Extubação/métodos , Assistência Terminal/organização & administração , Desmame do Respirador/métodos , Idoso , Idoso de 80 Anos ou mais , Extubação/enfermagem , Extubação/psicologia , COVID-19/epidemiologia , COVID-19/enfermagem , Cânula/efeitos adversos , Protocolos Clínicos , Pressão Positiva Contínua nas Vias Aéreas/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Assistência Terminal/psicologia , Desmame do Respirador/enfermagem
15.
Artigo em Inglês | MEDLINE | ID: mdl-31570381

RESUMO

As genetic testing on somatic tumor tissue becomes a more routine part of personalized cancer treatment, a growing opportunity arises to identify hereditary germline variants within those results. These germline results can affect future cancer screening for both patients and their family members. Finding this germline information can be complicated as a result of differences between somatic and germline testing processes, nomenclature, and outcome goals (e.g., treatment impact). The goal of this review is to highlight differences between somatic and germline testing and outline a potential guide to allow for appropriate clinical interpretation of somatic testing results in order to better facilitate genetic counseling referrals and confirmatory germline testing.


Assuntos
Predisposição Genética para Doença , Testes Genéticos/métodos , Neoplasias/genética , Feminino , Aconselhamento Genético , Mutação em Linhagem Germinativa , Humanos , Masculino , Neoplasias/diagnóstico
16.
Sci Rep ; 10(1): 13518, 2020 08 11.
Artigo em Inglês | MEDLINE | ID: mdl-32782288

RESUMO

Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs in DNA damage response and repair (DDRR) genes are enriched in eoRC patients undergoing cancer risk assessment. Retrospective review of de-identified results from 844 eoRC patients, undergoing testing with a multi-gene panel, for a variety of indications, by Ambry Genetics. PVs in cancer-risk genes were identified in 12.8% of patients-with 3.7% in RC-specific, and 8.55% in DDRR genes. DDRR gene PVs were most commonly identified in CHEK2, BRCA1, BRCA2, and ATM. Among the 2.1% of patients with a BRCA1 or BRCA2 PV, < 50% reported a personal history of hereditary breast or ovarian-associated cancer. No association between age of RC diagnosis and prevalence of PVs in RC-specific or DDRR genes was observed. Additionally, 57.9% patients reported at least one additional cancer; breast cancer being the most common (40.1% of females, 2.5% of males). Multi-gene testing including DDRR genes may provide a more comprehensive risk assessment in eoRC patients. Further validation is needed to characterize the association with eoRC.


Assuntos
Dano ao DNA/genética , Reparo do DNA/genética , Variação Genética , Neoplasias Renais/genética , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Estudos de Coortes , Feminino , Predisposição Genética para Doença/genética , Testes Genéticos , Humanos , Neoplasias Renais/diagnóstico , Masculino , Pessoa de Meia-Idade , Prevalência , Medição de Risco , Adulto Jovem
17.
Psychooncology ; 18(9): 945-55, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19090507

RESUMO

OBJECTIVE: Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent. METHODS: Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing. RESULTS: In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=<0.0001), confidentiality concerns (beta=0.02; SE=0.01; p=0.02), and family-related guilt (beta=0.02; SE=0.01; p=0.0009) associated with genetic testing. CONCLUSIONS: Results suggest an influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.


Assuntos
Aculturação , Negro ou Afro-Americano/psicologia , Neoplasias da Mama/etnologia , Neoplasias da Mama/psicologia , Cultura , Emigrantes e Imigrantes/psicologia , Testes Genéticos/psicologia , Acessibilidade aos Serviços de Saúde , Disparidades em Assistência à Saúde , Papel do Doente , Adaptação Psicológica , Adulto , Negro ou Afro-Americano/genética , Proteínas Reguladoras de Apoptose , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Emoções , Feminino , Aconselhamento Genético/psicologia , Privacidade Genética/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade , Neoplasias Ovarianas/etnologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Inventário de Personalidade/estatística & dados numéricos , Psicometria , População Branca/psicologia
18.
Breast J ; 15 Suppl 1: S56-62, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19775331

RESUMO

Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.


Assuntos
Neoplasias da Mama/etnologia , Neoplasias da Mama/genética , Aconselhamento Genético , Testes Genéticos , Neoplasias Ovarianas/etnologia , Neoplasias Ovarianas/genética , Neoplasias da Mama/prevenção & controle , Feminino , Genes BRCA1 , Genes BRCA2 , Aconselhamento Genético/economia , Aconselhamento Genético/psicologia , Testes Genéticos/economia , Testes Genéticos/psicologia , Humanos , Grupos Minoritários , Mutação , Neoplasias Ovarianas/prevenção & controle
19.
Semin Oncol Nurs ; 35(1): 34-46, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30683549

RESUMO

OBJECTIVE: To build skills related to cancer risk assessment including: identification of elevated personal or hereditary cancer risks, incorporation of cancer risk models into clinical care, and reviewing elements of cancer risk education and informed consent. DATA SOURCES: Consensus and professional guidelines and published literature. CONCLUSION: Applying consensus guidelines to cancer risk education, along with building partnerships with other providers, is essential for oncology nurses and will ensure proper patient care and follow-up. IMPLICATIONS FOR NURSING PRACTICE: Oncology nursing has embraced advances in genetics and genomics and developed standards of practice that include genetics and genomics competency.


Assuntos
Neoplasias/enfermagem , Medição de Risco/métodos , Humanos , Neoplasias/genética , Enfermagem Oncológica
20.
Mol Genet Genomic Med ; 7(3): e556, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30680959

RESUMO

BACKGROUND: Identification of genetic factors causing predisposition to renal cell carcinoma has helped improve screening, early detection, and patient survival. METHODS: We report the characterization of a proband with renal and thyroid cancers and a family history of renal and other cancers by whole-exome sequencing (WES), coupled with WES analysis of germline DNA from additional affected and unaffected family members. RESULTS: This work identified multiple predicted protein-damaging variants relevant to the pattern of inherited cancer risk. Among these, the proband and an affected brother each had a heterozygous Ala45Thr variant in SDHA, a component of the succinate dehydrogenase (SDH) complex. SDH defects are associated with mitochondrial disorders and risk for various cancers; immunochemical analysis indicated loss of SDHB protein expression in the patient's tumor, compatible with SDH deficiency. Integrated analysis of public databases and structural predictions indicated that the two affected individuals also had additional variants in genes including TGFB2, TRAP1, PARP1, and EGF, each potentially relevant to cancer risk alone or in conjunction with the SDHA variant. In addition, allelic imbalances of PARP1 and TGFB2 were detected in the tumor of the proband. CONCLUSION: Together, these data suggest the possibility of risk associated with interaction of two or more variants.


Assuntos
Carcinoma de Células Renais/genética , Mutação em Linhagem Germinativa , Neoplasias Renais/genética , Adulto , Idoso , Complexo II de Transporte de Elétrons/genética , Epistasia Genética , Feminino , Proteínas de Choque Térmico HSP90/genética , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Poli(ADP-Ribose) Polimerase-1/genética , Fator de Crescimento Transformador beta2/genética
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