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1.
Prostate ; 84(3): 292-302, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37964482

RESUMO

BACKGROUND: Recently approved treatments and updates to genetic testing recommendations for prostate cancer have created a need for correlated analyses of patient outcomes data via germline genetic mutation status. Genetic registries address these gaps by identifying candidates for recently approved targeted treatments, expanding clinical trial data examining specific gene mutations, and understanding effects of targeted treatments in the real-world setting. METHODS: The PROMISE Registry is a 20-year (5-year recruitment, 15-year follow-up), US-wide, prospective genetic registry for prostate cancer patients. Five thousand patients will be screened through an online at-home germline testing to identify and enroll 500 patients with germline mutations, including: pathogenic or likely pathogenic variants and variants of uncertain significance in genes of interest. Patients will be followed for 15 years and clinical data with real time patient reported outcomes will be collected. Eligible patients will enter long-term follow-up (6-month PRO surveys and medical record retrieval). As a virtual study with patient self-enrollment, the PROMISE Registry may fill gaps in genetics services in underserved areas and for patients within sufficient insurance coverage. RESULTS: The PROMISE Registry opened in May 2021. 2114 patients have enrolled to date across 48 US states and 23 recruiting sites. 202 patients have met criteria for long-term follow-up. PROMISE is on target with the study's goal of 5000 patients screened and 500 patients eligible for long-term follow-up by 2026. CONCLUSIONS: The PROMISE Registry is a novel, prospective, germline registry that will collect long-term patient outcomes data to address current gaps in understanding resulting from recently FDA-approved treatments and updates to genetic testing recommendations for prostate cancer. Through inclusion of a broad nationwide sample, including underserved patients and those unaffiliated with major academic centers, the PROMISE Registry aims to provide access to germline genetic testing and to collect data to understand disease characteristics and treatment responses across the disease spectrum for prostate cancer with rare germline genetic variants.


Assuntos
Mutação em Linhagem Germinativa , Neoplasias da Próstata , Masculino , Humanos , Estudos Prospectivos , Neoplasias da Próstata/genética , Neoplasias da Próstata/terapia , Resultado do Tratamento , Sistema de Registros
2.
Psychooncology ; 27(7): 1825-1832, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29645321

RESUMO

OBJECTIVES: Using a novel measure, examine maternal perceptions of the process by which issues pertaining to family communication of BRCA test results are addressed during cancer genetic counseling. METHODS: After receiving BRCA results, mothers (N = 211) of minor-age children reported on their counseling experiences with providers using a communication process measure as well as other psychosocial variables. RESULTS: The novel Genetic Counseling Communication Process measure demonstrated good internal consistency of its 2 factors: patient-led communication (Cronbach's α = 0.73) and provider-led communication (Cronbach's α = 0.82). Participants most often reported that discussions about family communication of BRCA test results to children and adult relatives were led only by their providers (38.2%-39.2%), as opposed to being led by the patient, both parties, or neither party. Providers were most likely to lead these discussions when mothers had stronger family histories of cancer and expressed more confidence about making a decision to talk to their children about BRCA. However, mothers typically led such discussions if they were raising older children and held more positive attitudes about pediatric BRCA testing. CONCLUSIONS: When the assessment of BRCA genetic counseling outcomes includes family communication to potentially at-risk relatives, we learned that most but not all sessions addressed this topic. Cancer family history, child age, and maternal attitudes are important co-factors in these patient-provider communication exchanges. Providers delivering BRCA genetic counseling should be attentive to mothers' information and support needs regarding communicating cancer genetic test results to at-risk relatives, including children.


Assuntos
Neoplasias da Mama/psicologia , Revelação , Aconselhamento Genético/psicologia , Relações Mãe-Filho , Adolescente , Adulto , Criança , Tomada de Decisões , Feminino , Predisposição Genética para Doença/psicologia , Testes Genéticos , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/psicologia
3.
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
4.
J Genet Couns ; 22(3): 303-14, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23093334

RESUMO

Family communication is the primary, initial means of educating the next, at-risk generation about hereditary cancer risk. In this study, in-depth parent narratives provided self-report of motivations, planning, satisfactions and regrets associated with sharing or not sharing maternal BRCA1/2 test results with young children and advice for parents considering disclosure and for genetic counselors. Interviews were conducted with 32 mothers tested for BRCA1/2 with children ages 8-21 years and 24 of their co-parents; interview narratives were analyzed qualitatively. Parents were concerned with both protecting and educating children about hereditary cancer risk. They expressed confidence that parents can constructively convey genetic information to minor children. Telling relieved most parents and satisfied a sense of parental duty. Parents strongly advised child-specific, age-appropriate tailoring of genetic information and emphasized conveying the positive, preventive utility of genetic information to children. Immunizing effects of disclosure were viewed as providing forewarning about and preparation for possible later family cancer diagnoses. Parents choosing not to tell children were advised to consider future disclosure. Narratives about parental sharing of BRCA1/2 test results with minor children support the feasibility of parental discussion of maternal genetic test results to the next at-risk generation. Results suggest development of intervention tools for parents would support decision-making and family communication and potentially reduce parental worry and regret. Recommendations are made for more active involvement by genetic counselors with tested parents around the topic of delivery of genetic information to children.


Assuntos
Genes BRCA1 , Genes BRCA2 , Testes Genéticos , Mães , Relações Pais-Filho , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Adulto Jovem
5.
PEC Innov ; 2: 100129, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37214493

RESUMO

Objective: Evaluate the impact of a targeted family communication intervention for mothers undergoing genetic counseling and testing (GCT) for BRCA gene alterations. Methods: Following BRCA GCT, mothers (N = 204; M age = 45 y) were randomized to either a control condition (self-help print materials) or intervention (printed decision support guide, based on behavioral decision making theory in health care) for supporting choices about disclosing maternal genetic test results to children and adolescents. Behavioral assessments were administered prior to maternal GCT and after receipt of results: primary outcomes were maternal disclosure to children and parent-child communication quality. Results: Mothers in the intervention were > 2x likely to disclose their BRCA test results to their children compared to those in the control condition (odds ratio [OR] = 2.33, 95% confidence interval [CI] = 1.06, 5.10; p = .04). This effect was moderated by children's ages: mothers of preteens (<13 y) assigned to the intervention were >3x likely to disclose their results (OR = 3.74, 95% CI = 1.49, 9.41; p = .005). In adjusted models, intervention was also associated with favorable changes in the quality of parent-child communication (95% CI = 0.30, 9.00; p < .05). Conclusion: Decision support improves parent-child communication outcomes about GCT for hereditary breast-ovarian cancer. Innovation: This trial is among the first to empirically evaluate the outcomes of a behavioral intervention to support family communication of maternal BRCA risk information to children.

6.
J Med Internet Res ; 14(1): e15, 2012 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-22257650

RESUMO

BACKGROUND: Spouses and partners ("partners") of women at-risk for ("previvors") and surviving with hereditary breast/ovarian cancer are a primary source of support within their families. Yet, little is known about partners' needs for psychoeducational intervention to enhance their cancer risk knowledge, coping, and support role functioning. OBJECTIVE: To determine the type and range of need for psychoeducational intervention among partners of hereditary breast cancer previving and surviving women, and to understand the potential role of the Internet and other communication channels in meeting that need. METHODS: We conducted a secondary data analysis on partners' needs that were originally assessed via an online community-based organization devoted to hereditary breast cancer. Partners' demographic characteristics, need for psychoeducation, and likelihood of using various communication channels were assessed along with other constructs. Analyses examined commonly-occurring clusters of likely intervention use and by communication channel. RESULTS: Partners (n =143) endorsed a moderately high level of need for psychoeducation and did so across multiple content areas (e.g., role functioning, decision making, communication, intimacy). Factor analysis identified three commonly-preferred communication channels: 1) self-help materials, 2) online interactions, and 3) interpersonal interactions. A cluster analysis among these factors identified three groups of partners based on their likelihood of psychoeducational intervention use (low [18%], moderate [55%], and high [27%] users). In a covariate-adjusted MANOVA, moderate and high intervention users reported significantly greater need for psychoeducation compared to low users (F(2,132) = 9.15, P < .001). CONCLUSIONS: A majority of assessed partners perceived a need for psychoeducational interventions surrounding hereditary breast cancer risk. Internet-based, interactive resources may be an efficient mechanism to reach large numbers of partners with tailored content. Research is warranted to inform the design and deployment of these resources to ensure quality and high impact, and ultimately to examine ways to integrate these resources into clinical care.


Assuntos
Neoplasias da Mama/psicologia , Predisposição Genética para Doença , Avaliação das Necessidades , Educação de Pacientes como Assunto/métodos , Cônjuges , Neoplasias da Mama/genética , Feminino , Humanos , Apoio Social
7.
Pediatrics ; 150(2)2022 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-35859209

RESUMO

BACKGROUND: It is important to examine adolescent and young adult (AYA) children's long-term psychosocial and behavioral adaptation to disclosure of maternal BRCA-positive carrier status (BRCA+) to inform approaches for familial cancer risk communication, education, and counseling. METHODS: Mothers underwent BRCA genetic testing 1 to 5 years earlier. Group differences in AYAs' self-reported outcomes were analyzed by maternal health and carrier status, and child age and sex. RESULTS: A total of N = 272 AYAs were enrolled: 76.1% of their mothers were breast or ovarian cancer survivors and 17.3% were BRCA+. AYAs' cancer risk behavior (tobacco and alcohol use, physical activity) and psychologic distress levels did not vary by maternal status. In bivariate analyses, AYAs of cancer-surviving mothers believed themselves to be at greater risk for, and were more knowledgeable about, cancer than AYAs of mothers without cancer. AYAs of BRCA+ mothers were more concerned about cancer, held stronger beliefs about genetic risk, and placed a higher value on learning about genetics. In adjusted models, maternal cancer history (not BRCA+) remained associated with AYAs' greater perceptions of cancer risk (P = .002), and knowledge about cancer (P = .03) and its causes (P = .002). CONCLUSIONS: Disclosing maternal BRCA+ status did not influence children's lifestyle behavior or adversely affect quality of life long term. AYAs of BRCA+ mothers were more aware of and interested in genetic risk information. Such families may benefit from support to promote open communication about genetic testing choices.


Assuntos
Sobreviventes de Câncer , Neoplasias , Neoplasias Ovarianas , Adolescente , Feminino , Humanos , Adulto Jovem , Filhos Adultos , Sobreviventes de Câncer/psicologia , Testes Genéticos , Neoplasias/etiologia , Neoplasias/genética , Neoplasias Ovarianas/genética , Qualidade de Vida/psicologia
8.
Breast Cancer Res Treat ; 124(3): 755-64, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20383578

RESUMO

Women who receive positive or uninformative BRCA1/2 test results face a number of decisions about how to manage their cancer risk. The purpose of this study was to prospectively examine the effect of receiving a positive versus uninformative BRCA1/2 genetic test result on the perceived pros and cons of risk-reducing mastectomy (RRM) and risk-reducing oophorectomy (RRO) and breast cancer screening. We further examined how perceived pros and cons of surgery predict intention for and uptake of surgery. 308 women (146 positive, 162 uninformative) were included in RRM and breast cancer screening analyses. 276 women were included in RRO analyses. Participants completed questionnaires at pre-disclosure baseline and 1-, 6-, and 12-months post-disclosure. We used linear multiple regression to assess whether test result contributed to change in pros and cons and logistic regression to predict intentions and surgery uptake. Receipt of a positive BRCA1/2 test result predicted stronger pros for RRM and RRO (P < 0.001), but not perceived cons of RRM and RRO. Pros of surgery predicted RRM and RRO intentions in carriers and RRO intentions in uninformatives. Cons predicted RRM intentions in carriers. Pros and cons predicted carriers' RRO uptake in the year after testing (P < 0.001). Receipt of BRCA1/2 mutation test results impacts how carriers see the positive aspects of RRO and RRM and their surgical intentions. Both the positive and negative aspects predict uptake of surgery.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Testes Genéticos/psicologia , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Intenção , Mutação , Neoplasias Ovarianas/genética , Aceitação pelo Paciente de Cuidados de Saúde , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/psicologia , Neoplasias da Mama/terapia , Comportamento de Escolha , Análise Mutacional de DNA/psicologia , Feminino , Testes Genéticos/métodos , Humanos , Modelos Lineares , Modelos Logísticos , Programas de Rastreamento/psicologia , Mastectomia/psicologia , Pessoa de Meia-Idade , Razão de Chances , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/psicologia , Neoplasias Ovarianas/terapia , Ovariectomia/psicologia , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Ensaios Clínicos Controlados Aleatórios como Assunto , Medição de Risco , Fatores de Risco , Inquéritos e Questionários , Fatores de Tempo , Estados Unidos
9.
Health Psychol ; 28(1): 11-19, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19210013

RESUMO

OBJECTIVE: Genetic testing is increasingly part of routine clinical care for women with a family history of breast cancer. Given their substantially elevated risk for breast cancer, BRCA1/BRCA2 mutation carriers must make the difficult decision whether or not to opt for risk reducing mastectomy. To help BRCA1/2 carriers make this decision, the authors developed a computer-based interactive decision aid that was tested against usual care in a randomized controlled trial. DESIGN: After the completion of genetic counseling, 214 female (aged 21-75) BRCA1/BRCA2 mutation carriers were randomized to Usual Care (UC; N = 114) or Usual Care plus Decision Aid (DA; N = 100) arms. UC participants received no additional intervention. DA participants were sent the CD-ROM DA to view at home. MAIN OUTCOME MEASURES: The authors measured final management decision, decisional conflict, decisional satisfaction, and receipt of risk reducing mastectomy at 1-, 6-, and 12-months postrandomization. RESULTS: Longitudinal analyses revealed that the DA was effective among carriers who were initially undecided about how to manage their breast cancer risk. Within this group, the DA led to an increased likelihood of reaching a management decision (OR = 3.09, 95% CI = 1.62, 5.90; p < .001), decreased decisional conflict (B = -.46, z = -3.1, p <002), and increased satisfaction (B = .27, z = 3.1, p = .002) compared to UC. Among carriers who had already made a management decision by the time of randomization, the DA had no benefit relative to UC. CONCLUSION: These results demonstrate that BRCA1/BRCA2 mutation carriers who are having difficulty making a breast cancer risk management decision can benefit from adjunct decision support.


Assuntos
Neoplasias da Mama/genética , Tomada de Decisões , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/psicologia , Satisfação do Paciente , Adulto , Idoso , Feminino , Aconselhamento Genético , Humanos , Mastectomia , Pessoa de Meia-Idade , Medição de Risco
10.
J Pediatr Psychol ; 34(6): 627-38, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18385162

RESUMO

OBJECTIVE: Predictive genetic testing for hereditary breast/ovarian cancer risk (BRCA1/2 testing) is not recommended for minor children due to its lack of immediate medical benefit and potential psychological risk. Yet, tested mothers are often interested in learning about their children's cancer risks via pediatric BRCA1/2 testing, raising a host of bioethical concerns. However, no reliable or valid tool exists to formally gauge parents' interest in such testing. The aim of this study was to develop and evaluate a new measure for use in genetic research and consultation, known as the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). METHODS: After pretest genetic counseling and provision of a blood sample for BRCA1/2 testing, the P-TAS was administered to 187 mothers of children between 8- and 21-years-old. The measure was also given to 96 of the mothers' nontested co-parents. Analyses of the factor structure and psychometric properties of the measure were performed in mothers and confirmed in their co-parents. RESULTS: The two factors of the P-TAS, labeled Attitudes and Beliefs (Factor 1) and Decision Making and Communication (Factor 2), accounted for 62.9% of the variance and were reliable (Cronbach's coefficient alphas =.70 and .90, respectively); the structure and properties were largely confirmed among co-parents. Validity was indicated through its convergence with related constructs. CONCLUSIONS: This new tool may be integrated into genetic counseling research to better assess parents' attitudes and interests in pediatric BRCA1/2 testing. Such information may help guide ongoing discussions about the appropriateness of testing in adolescent or young adult children.


Assuntos
Atitude Frente a Saúde , Proteína BRCA2/genética , Neoplasias da Mama/genética , Testes Genéticos/ética , Menores de Idade/psicologia , Neoplasias Ovarianas/genética , Pais/psicologia , Inquéritos e Questionários , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Fatores Etários , Idoso , Proteínas Reguladoras de Apoptose , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/psicologia , Criança , Ética Médica , Feminino , Aconselhamento Genético/ética , Aconselhamento Genético/psicologia , Predisposição Genética para Doença/genética , Predisposição Genética para Doença/psicologia , Testes Genéticos/psicologia , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Ovarianas/prevenção & controle , Neoplasias Ovarianas/psicologia , Psicometria/estatística & dados numéricos , Reprodutibilidade dos Testes , Adulto Jovem
11.
Transl Behav Med ; 9(3): 493-503, 2019 05 16.
Artigo em Inglês | MEDLINE | ID: mdl-31094441

RESUMO

Children's literacy about the genetics of late-onset hereditary breast/ovarian cancer (HBOC) often develops through conversations with parents about BRCA gene testing and adults' cancer diagnoses. These conversations may promote early understanding of HBOC, but the long-term impact on children's psychosocial adjustment remains unclear. We investigated cancer genetic health communication in BRCA-tested families to consider benefits, risks, and moderating influences on children's understanding and well-being. Adolescent and young adult children (ages 12-24) of mothers who underwent BRCA testing 1+ years previously completed qualitative interviews that were transcribed, coded (intercoder K ≥ .70), and content-analyzed (N = 34). Children readily recalled conversations about BRCA testing and HBOC (100%) that they considered important (94%), but implications for children were ambiguous and obfuscated their concerns. Psychosocial impacts were muted, multifaceted, and displayed a range of favorable (82%), neutral (71%), and unfavorable (59%) response-frequently co-occurring within the same child over different aspects (e.g., medical, concern for self and others). Children verbalized active (50%) and avoidant (38%) coping strategies: about 1:5 endorsed transient thoughts about vulnerability to HBOC, 1:3 had not further considered it, and all reported specific actions they had or would undertake to remain healthy (e.g., diet/exercise). A majority (94%) of children had or would consider genetic testing for themselves, usually later in life (59%). Long-term outcomes highlighted benefits (awareness of HBOC, psychological hardiness, healthier lifestyle behaviors), as well as some psychosocial concerns that could be managed through interventions promoting genetic health literacy.


Assuntos
Adaptação Psicológica , Neoplasias da Mama , Família , Testes Genéticos , Comunicação em Saúde , Letramento em Saúde , Neoplasias Ovarianas , Adolescente , Criança , Feminino , Humanos , Masculino , Adulto Jovem , Neoplasias da Mama/genética , Família/psicologia , Predisposição Genética para Doença , Entrevistas como Assunto , Neoplasias Ovarianas/genética , Pesquisa Qualitativa
12.
Genet Test ; 12(1): 37-52, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18373403

RESUMO

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.


Assuntos
Genes BRCA1 , Genes BRCA2 , Aconselhamento Genético/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Telefone , Recursos Audiovisuais , Neoplasias da Mama/genética , Feminino , Predisposição Genética para Doença , Humanos , Mutação , Neoplasias Ovarianas/genética , Garantia da Qualidade dos Cuidados de Saúde , Fatores de Risco , Ensino
13.
J Genet Couns ; 17(3): 283-7, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18288593

RESUMO

It is known that many mothers rapidly share the results of their BRCA1/2 genetic testing with their children, especially adolescent children. What is less known is the extent to which these mothers may engage fathers in a discussion concerning genetic counseling and the anticipated disclosure of genetic test results to children, or seek shared decision making in this context. This short communication addresses this issue by first examining mothers' and fathers' discussions concerning a research study of family communication. In our view, this conversation likely served as a precursor to, and proxy indicator of, maternal receptivity to partner input regarding the genetic counseling/testing-results disclosure process. We further evaluated how the quality of the parenting relationship is associated with mothers' decisions to include or not include the child's father in this study. Finally, this report addresses potential ways in which the genetic counselor may be able to facilitate parental communication regarding the evolving process of disclosure of genetic information to children and adolescents.


Assuntos
Genes BRCA1 , Genes BRCA2 , Testes Genéticos , Relações Mãe-Filho , Adolescente , Adulto , Criança , Feminino , Humanos , Estudos Longitudinais , Pessoa de Meia-Idade , Estudos Prospectivos
14.
Cancer Epidemiol Biomarkers Prev ; 16(12): 2763-7, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18086785

RESUMO

BACKGROUND: Registries of individuals at risk for hereditary cancer syndromes are an invaluable resource for cancer research, yet little is known about the predictors of enrollment in hereditary cancer registries. We sought to identify the factors that characterize individuals who enroll versus those who decline participation in a Familial Cancer Registry (FCR). We also sought to identify the factors associated with provision of a blood sample to the FCR. METHODS: Participants (n = 549) had a 10% or greater prior probability of having a BRCA1/2 mutation or were members of a family with a known BRCA1/2 mutation. RESULTS: Of 549 participants, 81.1% (n = 445) enrolled in the FCR and 18.9% (n = 104) declined. Independent significant predictors of FCR participation included: lower anxiety (odds ratio(0.5 SD), 0.83; 95% confidence interval, 0.73-0.95) and being unaffected with breast or ovarian cancer (odds ratio, 0.52; 95% confidence interval, 0.39-0.67). Of the 445 FCR participants, 80.4% provided a blood sample whereas 19.6% declined, with blood sample provision predicted by being employed full time (odds ratio, 1.68; 95% confidence interval, 1.31-2.16). CONCLUSION: These findings have implications for the generalizability of results from research using hereditary cancer registry samples. Individuals who are affected with breast/ovarian cancer and have more anxiety are less likely to enroll in a hereditary cancer registry. Clinically, these results indicate that cancer registry enrollment strategies could benefit from the use of tailored approaches to increase the enrollment of individuals that are less likely to participate.


Assuntos
Atitude Frente a Saúde , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença/psicologia , Sistema de Registros , Neoplasias da Mama/psicologia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/psicologia , Fatores de Risco , Fatores Socioeconômicos
15.
Semin Oncol ; 34(5): 369-78, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17920890

RESUMO

The primary element involved in the practical delivery of hereditary cancer risk counseling is the development of a cancer genetics service. This service should involve a multidisciplinary core of specialists, aim to identify at-risk individuals and their families, and provide comprehensive genetic counseling with the option of genetic testing. This article examines the development of a cancer genetics service beginning with the fundamentals of patient ascertainment, location, staffing, and billing. It also reviews the elements involved in the provision of genetic counseling services, including formalized risk assessment and risk communication. Finally, we review novel modes of delivery of genetic counseling including the use of telephone counseling and telemedicine as a means of expanding the scope of this service and extending its reach to individuals who might otherwise not have access to a risk assessment clinic. Overall, this presentation can serve as a resource for identifying the practical aspects involved in the delivery of hereditary cancer risk counseling and their subsequent integration into the workings of a proficient cancer genetics service able to identify and serve at-risk patients and their family members.


Assuntos
Aconselhamento Genético , Serviços em Genética , Testes Genéticos , Neoplasias/genética , Predisposição Genética para Doença , Humanos , Competência Profissional , Medição de Risco , Apoio Social
16.
Oncology (Williston Park) ; 26(5)2012 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-25192142
17.
Genet Test ; 11(3): 249-55, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17949286

RESUMO

Mothers who participate in genetic testing for hereditary breast/ovarian cancer risk must decide if, when, and how to ultimately share their BRCA1 and BRCA2 (BRCA1/2) test results with their minor-age children. One of the primary aides for mothers in making this decision is cancer genetic counseling. However, counseling is limited in how well it can educate mothers about such decisions without the availability of resources that are specific to family communication and genetic testing per se. In an effort to fill this gap and identify mothers most likely to benefit from such resources, surveys were conducted with 187 mothers undergoing BRCA1/2 testing who had children 8-21 years old. Data were collected weeks after genetic testing but prior to mothers' learning of their test results; quantitative assessments of informational resource needs (i.e., speaking with previous BRCA1/2 testing participants who are parents regarding their experiences, reading educational literature about options and what to expect, speaking with a family counselor, attending a family support group, and self-nominated other resources), testing motivations, decision making vigilance, and decisional conflict regarding communicating test results to children were included. Mothers' most-to-least frequently cited information resource needs were: literature (93.4%), family counseling (85.8%), prior participants (79.0%), support groups (53.9%), and other (28.9%; e.g., pediatricians and psychologists). Seventy-eight percent of mothers were interested in accessing three or more resources. In multivariate regression analyses, testing motivations (beta = 0.35, p = 0.03), decision-making vigilance (beta = 0.16, p = 0.00), and decisional conflict (beta = 0.10, p = 0.00) were associated with mothers' need level; mothers with a greater interest in testing to learn about their children's risks, those with more vigilant decision-making styles, and those with higher decisional conflict had the greatest need. In conjunction with enhanced genetic counseling focusing on family disclosure, educational literature, and psychosocial support may promote improved outcomes.


Assuntos
Neoplasias da Mama/psicologia , Genes BRCA1 , Genes BRCA2 , Aconselhamento Genético , Predisposição Genética para Doença , Adolescente , Adulto , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Criança , Tomada de Decisões , Demografia , Feminino , Testes Genéticos , Humanos , Consentimento Livre e Esclarecido , Pessoa de Meia-Idade , Mães , Mutação
18.
Breast Dis ; 27: 127-36, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17917144

RESUMO

The process of genetic testing is often deemed a family affair. Several studies have indicated that individuals undergo BRCA1/2 testing not only to learn about their own cancer risks and options for screening and prevention, but also to gather information for potentially at-risk relatives. However, many individuals are not prepared for the medical and emotional implications that accompany the genetic testing process. This can be complicated by a moral or ethical obligation to disclose result status to other family members. Several characteristics including gender, BRCA1/2 carrier status, and cultural and ethnic background may influence the communication process between the proband and his/her potentially at-risk kin. In addition, the age of family members and their degree of relatedness may affect whether or not they are told the results of their relative's genetic testing. While genetic providers have an obligation to inform individuals of the implications of BRCA1/2 test results for at-risk relatives, they must also strive to respect and maintain autonomy and confidentiality. This paper will examine the characteristics that influence the disclosure of BRCA1/2 test results to relatives. In addition, methods of post-test support and follow-up to facilitate the disclosure process for patients and their family members as well as foster positive communication, will be discussed.


Assuntos
Neoplasias da Mama/genética , Comunicação , Família , Genes BRCA1 , Genes BRCA2 , Testes Genéticos/psicologia , Neoplasias da Mama/psicologia , Revelação , Feminino , Heterozigoto , Humanos , Masculino , Caracteres Sexuais
19.
Fam Cancer ; 15(4): 529-39, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-26969308

RESUMO

Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N = 236; UC, N = 243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11, p = 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (ß = 0.172, p < 0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79) = 2.21, p = 0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings.


Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/métodos , Aconselhamento Genético/psicologia , Neoplasias Ovarianas/genética , Neoplasias da Mama/psicologia , Conselheiros/psicologia , Feminino , Genes BRCA1 , Genes BRCA2 , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/psicologia , Satisfação do Paciente , Fatores Socioeconômicos , Telefone
20.
J Community Genet ; 6(1): 55-62, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25099078

RESUMO

Women tested for mutations in BRCA1/2 genes who have minor-aged children confront difficult decisions about if, when, and how to share information about hereditary cancer risk with their children. These choices are often seemingly influenced by how mothers anticipate the emotional burdens they and their children will experience in response to test results. Here, we investigate the association between maternal cognitions, pretest psychological well-being, and coping style with mothers' anticipated emotional reactions to learning that they are BRCA1/2 mutation carriers (N = 205). In a linear regression model adjusted for maternal demographics, stronger tendencies to ruminate about information (B = .14, p = .03), greater psychological strain (B = .14, p < .001), and poorer appraisals of one's ability to cope with genetic test results conveying increased breast cancer risk information (B = -.25, p < .001) were significantly associated with anticipating more negative affect surrounding BRCA1/2 mutation identification in mothers. Our data contribute to the growing awareness of special concerns that mothers have about knowing their BRCA1/2 mutation status and highlight the need for more tailored patient education and counseling resources to improve outcomes among women at risk and their children.

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