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1.
Genet Med ; 25(4): 100001, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36549594

RESUMO

PURPOSE: Personalized information is paramount to patient-centered communication and decision-making regarding risk management in hereditary cancer syndromes. This systematic review identified information needs of individuals from families harboring BRCA pathogenic variants and compared findings based on gender (women vs men) and clinical characteristics (patients with cancer vs previvors and BRCA heterozygotes vs untested relatives). METHODS: We screened 8115 studies identified from databases and citation searching. The quality of selected studies was assessed using the Mixed Methods Appraisal Tool. Narrative synthesis was conducted based on content analysis. RESULTS: From 18 selected studies including 1063 individuals, we identified 9 categories of information needs. Risk of bias in the selected studies was moderate. Men, untested relatives, and racial and ethnic minorities were underrepresented. Frequently required information was personalized cancer risk and risk-reducing strategies, including decision-making, family implications of hereditary cancers, psychological issues, and cascade testing. Subgroup analyses showed that information needs depended on gender, personal cancer history, and cascade testing in relatives. CONCLUSION: We identified comprehensive and detailed informational needs of individuals from families harboring BRCA pathogenic variants and gaps in international guidelines. Needs for personalized information varied based on gender, health, and genetic testing status. Findings of this study have implications for genetic counseling, tailoring educational materials, and personalizing interventions.


Assuntos
Neoplasias da Mama , Síndromes Neoplásicas Hereditárias , Feminino , Humanos , Masculino , Neoplasias da Mama/genética , Comunicação , Aconselhamento Genético/psicologia , Predisposição Genética para Doença , Testes Genéticos , Grupos Raciais , Proteínas Supressoras de Tumor/genética
2.
J Med Genet ; 59(9): 924-930, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34782441

RESUMO

BACKGROUND: We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective. METHODS: We integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy). RESULTS: The alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards. Based on annual incidence of CRC in Switzerland, universal DNA screening correctly identifies all 123 patients with CRC with LS, prevents 17 LS deaths and avoids 19 CRC cases, while the current strategy leads to 32 false negative results and 253 LS cases lost to follow-up. One way and probabilistic sensitivity analyses showed that universal DNA testing is cost-effective in around 80% of scenarios, and that the cost of DNA testing and the number of invited relatives per LS case determine the cost-effectiveness ratio. CONCLUSION: Results can inform policymakers, healthcare providers and insurance companies about the costs and benefits associated with universal screening for LS and cascade genetic testing of relatives.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose , Neoplasias Colorretais , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/genética , Análise Custo-Benefício , Detecção Precoce de Câncer , Testes Genéticos/métodos , Humanos , Suíça/epidemiologia
3.
Br J Cancer ; 123(5): 860-867, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32565540

RESUMO

BACKGROUND: The clinical utility of machine-learning (ML) algorithms for breast cancer risk prediction and screening practices is unknown. We compared classification of lifetime breast cancer risk based on ML and the BOADICEA model. We explored the differences in risk classification and their clinical impact on screening practices. METHODS: We used three different ML algorithms and the BOADICEA model to estimate lifetime breast cancer risk in a sample of 112,587 individuals from 2481 families from the Oncogenetic Unit, Geneva University Hospitals. Performance of algorithms was evaluated using the area under the receiver operating characteristic (AU-ROC) curve. Risk reclassification was compared for 36,146 breast cancer-free women of ages 20-80. The impact on recommendations for mammography surveillance was based on the Swiss Surveillance Protocol. RESULTS: The predictive accuracy of ML-based algorithms (0.843 ≤ AU-ROC ≤ 0.889) was superior to BOADICEA (AU-ROC = 0.639) and reclassified 35.3% of women in different risk categories. The largest reclassification (20.8%) was observed in women characterised as 'near population' risk by BOADICEA. Reclassification had the largest impact on screening practices of women younger than 50. CONCLUSION: ML-based reclassification of lifetime breast cancer risk occurred in approximately one in three women. Reclassification is important for younger women because it impacts clinical decision- making for the initiation of screening.


Assuntos
Neoplasias da Mama/epidemiologia , Aprendizado de Máquina , Adulto , Idoso , Neoplasias da Mama/classificação , Neoplasias da Mama/diagnóstico , Detecção Precoce de Câncer , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Retrospectivos , Risco , Adulto Jovem
4.
Breast Cancer Res ; 21(1): 75, 2019 06 20.
Artigo em Inglês | MEDLINE | ID: mdl-31221197

RESUMO

BACKGROUND: Comprehensive breast cancer risk prediction models enable identifying and targeting women at high-risk, while reducing interventions in those at low-risk. Breast cancer risk prediction models used in clinical practice have low discriminatory accuracy (0.53-0.64). Machine learning (ML) offers an alternative approach to standard prediction modeling that may address current limitations and improve accuracy of those tools. The purpose of this study was to compare the discriminatory accuracy of ML-based estimates against a pair of established methods-the Breast Cancer Risk Assessment Tool (BCRAT) and Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) models. METHODS: We quantified and compared the performance of eight different ML methods to the performance of BCRAT and BOADICEA using eight simulated datasets and two retrospective samples: a random population-based sample of U.S. breast cancer patients and their cancer-free female relatives (N = 1143), and a clinical sample of Swiss breast cancer patients and cancer-free women seeking genetic evaluation and/or testing (N = 2481). RESULTS: Predictive accuracy (AU-ROC curve) reached 88.28% using ML-Adaptive Boosting and 88.89% using ML-random forest versus 62.40% with BCRAT for the U.S. population-based sample. Predictive accuracy reached 90.17% using ML-adaptive boosting and 89.32% using ML-Markov chain Monte Carlo generalized linear mixed model versus 59.31% with BOADICEA for the Swiss clinic-based sample. CONCLUSIONS: There was a striking improvement in the accuracy of classification of women with and without breast cancer achieved with ML algorithms compared to the state-of-the-art model-based approaches. High-accuracy prediction techniques are important in personalized medicine because they facilitate stratification of prevention strategies and individualized clinical management.


Assuntos
Neoplasias da Mama/etiologia , Suscetibilidade a Doenças , Aprendizado de Máquina , Modelos Teóricos , Medicina de Precisão , Adulto , Algoritmos , Big Data , Feminino , Predisposição Genética para Doença , Humanos , Pessoa de Meia-Idade , Vigilância da População , Medicina de Precisão/métodos , Prognóstico , Curva ROC , Medição de Risco
5.
Genet Med ; 21(6): 1363-1370, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30385886

RESUMO

PURPOSE: Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services. METHODS: We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS. RESULTS: Among 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge. CONCLUSION: Racial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.


Assuntos
Neoplasias da Mama/genética , Utilização de Instalações e Serviços/tendências , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Adulto , População Negra/genética , Neoplasias da Mama/psicologia , Sobreviventes de Câncer , Etnicidade , Feminino , Aconselhamento Genético , Serviços em Genética , Testes Genéticos/métodos , Testes Genéticos/normas , Humanos , Fatores Raciais , Fatores Socioeconômicos , População Branca/genética
6.
Breast Cancer Res Treat ; 169(1): 141-152, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29353367

RESUMO

PURPOSE: This study examined clinical breast exam (CBE) and mammography surveillance in long-term young breast cancer survivors (YBCS) and identified barriers and facilitators to cancer surveillance practices. METHODS: Data collected with a self-administered survey from a statewide, randomly selected sample of YBCS diagnosed with invasive breast cancer or ductal carcinoma in situ younger than 45 years old, stratified by race (Black vs. White/Other). Multivariate logistic regression models identified predictors of annual CBEs and mammograms. RESULTS: Among 859 YBCS (n = 340 Black; n = 519 White/Other; mean age = 51.0 ± 5.9; diagnosed 11.0 ± 4.0 years ago), the majority (> 85%) reported an annual CBE and a mammogram. Black YBCS in the study were more likely to report lower rates of annual mammography and more barriers accessing care compared to White/Other YBCS. Having a routine source of care, confidence to use healthcare services, perceived expectations from family members and healthcare providers to engage in cancer surveillance, and motivation to comply with these expectations were significant predictors of having annual CBEs and annual mammograms. Cost-related lack of access to care was a significant barrier to annual mammograms. CONCLUSIONS: Routine source of post-treatment care facilitated breast cancer surveillance above national average rates. Persistent disparities regarding access to mammography surveillance were identified for Black YBCS, primarily due to lack of access to routine source of care and high out-of-pocket costs. IMPLICATIONS: Public health action targeting cancer surveillance in YBCS should ensure routine source of post-treatment care and address cost-related barriers. Clinical Trials Registration Number: NCT01612338.


Assuntos
Neoplasias da Mama/diagnóstico , Carcinoma Intraductal não Infiltrante/diagnóstico , Mamografia , Recidiva Local de Neoplasia/diagnóstico , Idoso , Mama/diagnóstico por imagem , Mama/patologia , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Sobreviventes de Câncer , Carcinoma Intraductal não Infiltrante/epidemiologia , Carcinoma Intraductal não Infiltrante/patologia , Feminino , Humanos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Sistema de Registros , População Branca
7.
Cancer Causes Control ; 28(3): 191-201, 2017 03.
Artigo em Inglês | MEDLINE | ID: mdl-28197806

RESUMO

PURPOSE: Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives. METHODS: A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services. Baseline demographic, clinical, and family characteristics, and variables associated with the Theory of Planned Behavior (TPB) were assessed as predictors of YBCS' willingness to contact at-risk relatives. RESULTS: The 883 YBCS (33.2% response rate; 40% Black) who returned a survey had 1,875 at-risk relatives and were willing to contact 1,360 (72.5%). From 853 invited at-risk relatives (up to two relatives per YBCS), 442 responded (51.6% response rate). YBCS with larger families, with a previous diagnosis of depression, and motivated to comply with recommendations from family members were likely to contact a greater number of relatives. Black YBCS were more likely to contact younger relatives and those living further than 50 miles compared to White/Other YBCS. CONCLUSION: It is feasible to recruit diverse families at risk for hereditary cancer from a population-based cancer registry. This recruitment approach can be used as a paradigm for harmonizing processes and increasing internal and external validity of large-scale public health genomic initiatives in the era of precision medicine.


Assuntos
Neoplasias da Mama/genética , Neoplasias Ovarianas/genética , Seleção de Pacientes , Sistema de Registros , Adulto , Neoplasias da Mama/psicologia , Aconselhamento , Depressão , Família/psicologia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/psicologia , Fatores de Risco , Inquéritos e Questionários , Sobreviventes
8.
Psychooncology ; 26(9): 1270-1277, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-27146965

RESUMO

OBJECTIVE: Fear of cancer recurrence, although distinct from distress continues to be under-evaluated, captured, or treated when standard distress scales are used to assess concerns of cancer survivors. We tested a model assessing the association of demographic and clinical factors, illness representations, and perceived risk with fear of cancer recurrence in breast cancer survivors. METHODS: We recruited 117 breast cancer survivors at least one year after completing breast cancer treatment from Internet discussion boards for this cross-sectional, descriptive, correlational study. Participants completed a survey that assessed their level of fear of cancer recurrence as well as their illness representations, perceived risk of recurrence, and demographic and medical characteristics. RESULTS: Our model explained 62% of the variance in fear of cancer recurrence. Emotional representations (ß = .46, p < .01), symptom attribution (ß = .21, p < .01), timeline (ß = .23, p < .01), and consequences (ß = .16, p < .03) were significantly related to fear of recurrence. By contrast, the majority of clinical and demographic variables were not significant contributors to fear of recurrence. CONCLUSIONS: Upon completion of cancer treatment, survivors with more emotional representations of the experience and those who attribute unrelated symptoms to their breast cancer have a higher level of fear of recurrence. Evaluation of these factors during treatment may help mitigate fear of recurrence in the survivorship phase of the breast cancer trajectory. Copyright © 2016 John Wiley & Sons, Ltd.


Assuntos
Neoplasias da Mama/psicologia , Sobreviventes de Câncer/psicologia , Medo/psicologia , Recidiva Local de Neoplasia/psicologia , Adulto , Estudos Transversais , Feminino , Comportamentos Relacionados com a Saúde , Humanos , Pessoa de Meia-Idade , Autorrelato , Estresse Psicológico/psicologia , Inquéritos e Questionários
9.
CA Cancer J Clin ; 60(5): 317-39, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20709946

RESUMO

Family caregivers of cancer patients receive little preparation, information, or support to perform their caregiving role. However, their psychosocial needs must be addressed so they can maintain their own health and provide the best possible care to the patient. The purpose of this article is to analyze the types of interventions offered to family caregivers of cancer patients, and to determine the effect of these interventions on various caregiver outcomes. Meta-analysis was used to analyze data obtained from 29 randomized clinical trials published from 1983 through March 2009. Three types of interventions were offered to caregivers: psychoeducational, skills training, and therapeutic counseling. Most interventions were delivered jointly to patients and caregivers, but they varied considerably with regard to dose and duration. The majority of caregivers were female (64%) and Caucasian (84%), and ranged in age from 18 to 92 years (mean age, 55 years). Meta-analysis indicated that although these interventions had small to medium effects, they significantly reduced caregiver burden, improved caregivers' ability to cope, increased their self-efficacy, and improved aspects of their quality of life. Various intervention characteristics were also examined as potential moderators. Clinicians need to deliver research-tested interventions to help caregivers and patients cope effectively and maintain their quality of life.


Assuntos
Cuidadores/psicologia , Neoplasias/psicologia , Adaptação Psicológica , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Ensaios Clínicos Controlados Aleatórios como Assunto
10.
J Nurs Scholarsh ; 49(1): 80-86, 2017 01.
Artigo em Inglês | MEDLINE | ID: mdl-28094908

RESUMO

PURPOSE: The purpose of this article is to provide an overview of Family History in the Electronic Health Record and to identify opportunities to advance the contributions of nurses in obtaining, updating and assessing family history in order to improve the health of all individuals and populations. ORGANIZING CONSTRUCT: The article presents an overview of the obstacles to charting Family History within the Electronic Health Record and recommendations for using specific Family History tools and core Family History data sets. METHODS: Opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified. These opportunities are focused within the area of promoting the importance of communication within families and between healthcare providers to obtain, document, and update family histories. FINDINGS: Nurses can increase awareness of existing resources that can guide collection of a comprehensive and accurate family history and facilitate family discussions. In this paper, opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified. CONCLUSIONS: Aligned with the clinical preparation of nurses, family health should be used routinely by nurses for risk assessment and to help inform patient and family members on screening, health promotion, and disease prevention. The quality of family health information is critical in order to leverage the use of genomic healthcare information and derive new knowledge about disease biology, treatment efficacy, and drug safety. These actionable steps need to be performed in the context of promoting evidence-based applications of family history that will be essential for implementing personalized genomic healthcare approaches and disease prevention efforts. CLINICAL RELEVANCE: Family health history is one of the most important tools for identifying the risk of developing rare and chronic conditions, including cardiovascular disease, cancer, and diabetes, and represents an integration of disease risk from genetic, environmental, and behavioral/lifestyle factors. In fact, family history has long been recognized as a strong independent risk factor for disease and is the current best practice used in clinical practice to guide risk assessment.


Assuntos
Registros Eletrônicos de Saúde/estatística & dados numéricos , Anamnese , Relações Enfermeiro-Paciente , Humanos , Medição de Risco , Fatores de Risco
11.
Nurs Outlook ; 64(2): 117-123, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26712384

RESUMO

BACKGROUND: Genomic discoveries in the era of precision medicine hold the promise for tailoring healthcare, symptom management, and research efforts including targeting rare and common diseases through the identification and implementation of genomic-based risk assessment, treatment, and management. However, the translation of these discoveries into tangible benefits for the health of individuals, families, and the public is evolving. PURPOSE: In this article, members of the Genetics Expert Panel identify opportunities for action to increase advanced practice nursing and research contributions toward improving genomic health for all individuals and populations. DISCUSSION: Identified opportunities are within the areas of: bolstering genomic focused advanced practice registered nurse practice, research and education efforts; deriving new knowledge about disease biology, risk assessment, treatment efficacy, drug safety and self-management; improving resources and systems that combine genomic information with other healthcare data; and advocating for patient and family benefits and equitable access to genomic healthcare resources.


Assuntos
Prática Avançada de Enfermagem , Papel do Profissional de Enfermagem , Pesquisa em Enfermagem , Farmacogenética , Medicina de Precisão , Competência Clínica , Educação Continuada em Enfermagem , Genômica/educação , Humanos , Informática em Enfermagem , Política Organizacional , Defesa do Paciente , Medição de Risco
13.
J Cancer Policy ; 40: 100474, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38513969

RESUMO

INTRODUCTION: In Kazakhstan, a country of 19 million residents, more than 100,000 patients need palliative care. Since at least one family member is usually involved in the care of a terminal patient, more than 200,000 people would benefit from high-quality palliative care services in the country. However, with only 45 physicians and 101 nurses attending to 1925 palliative beds, Kazakhstan seeks to develop palliative services that meet the national needs in resource-limited settings and international standards. The objectives of this study are to explore the challenges faced by stakeholders involved in palliative care in Kazakhstan and to subsequently provide recommendations that can guide policymakers towards further developing palliative care services in the country. METHODS: This cross-sectional descriptive study collected narrative data with in-depth interviews from n= 29 palliative stakeholders (family caregivers n= 12, healthcare professionals =12, administrators n= 5) across five regions of Kazakhstan. Verbatim transcripts of interviews were analyzed using content analysis to identify needs and challenges of stakeholders involved in palliative care. RESULTS: Our analysis identified seven main challenges of palliative care stakeholders: high out-of-pocket expenditures; lack of mobile palliative care services for home-based care; severe shortages of opioids to prevent pain suffering; poor formal palliative care education; absence of practical skills training for family caregivers; lack of awareness about palliative care in the society, and lack of state support. CONCLUSION: Implementation of national palliative care strategies and policies require a large-scale coordinated involvement of all stakeholders. Our recommendations are based on the idea that coordinated, targeted, and tailored stakeholder engagement is preferred to a one-size-fits-all strategy.


Assuntos
Cuidados Paliativos , Humanos , Cuidados Paliativos/organização & administração , Cazaquistão , Estudos Transversais , Masculino , Feminino , Pessoal de Saúde , Cuidadores , Adulto , Pessoa de Meia-Idade , Região de Recursos Limitados
14.
Patient Educ Couns ; 123: 108202, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38395023

RESUMO

OBJECTIVE: We examined how responsibility (the "duty to inform relatives about genetic testing results") is understood and enacted among Swiss and Korean women carrying BRCA1 or BRCA2 pathogenic variants. METHODS: In-depth interviews and/or focus groups with 46 Swiss and 22 Korean carriers were conducted, using an identical interview guide. Data were analyzed inductively and translated into English for cross-country comparisons. RESULTS: We identified five modes of responsibility in both samples: Persuader, Enabler, Relayer, Delayer, and Decliner. The Enabler and Relayer modes were the most common in both countries. They followed the rational imperative of health and norms of competence and self-determination, respectively. The Relayer mode transmitted information without trying to influence relatives' decisions. The Delayer and Decliner modes withheld information, deeming it the best way to safeguard the family during that specific moment of its trajectory. Responsibility to disclose testing results was influenced by culturally diverging conceptions of the family unit and socio-contextual norms. CONCLUSION: Responsibility primarily reflects the imperative of health prevention; findings demonstrate various interpretations, including the sense of family caring achieved through controlled disclosure of genetic information. PRACTICE IMPLICATIONS: Findings offer healthcare providers socio-anthropological insights to assist probands navigate the disclosure of genetic information within their families. TRIAL REGISTRATION NUMBER: NCT04214210 (registered Nov 2, 2020), KCT 0005643 (registered Nov 23, 2020).


Assuntos
Predisposição Genética para Doença , Neoplasias , Humanos , Feminino , Suíça , Testes Genéticos , Neoplasias/diagnóstico , Neoplasias/genética , República da Coreia , Família
15.
Cancers (Basel) ; 16(11)2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38893084

RESUMO

BACKGROUND: The increased demand for genetic testing and counseling necessitates healthcare professionals (HCPs) to improve their genetic competency through training programs. This systematic review identified HCPs' learning needs and their perspectives on essential information for families with hereditary cancer. METHODS: This review covered studies published from 2013 to 2024 across five databases. Data were analyzed using a content analysis. RESULTS: Thirteen studies involving 332 HCPs were analyzed. Most studies focused on the learning needs of physicians caring for families affected by Hereditary Breast and Ovarian Cancer in North America and Europe. HCPs required training emphasizing practical counseling skills over the basics of genetics. Learning needs varied by profession: physicians needed training in assessing cancer risk and supporting decision-making in risk management; nurses required information on resources and the genetic care system; genetic counselors sought guidance on family communication and planning. Essential information identified for families included risk-reducing strategies, personalized cancer risk assessment, family implications, psychological issues, (cascade) genetic testing, and social concerns. CONCLUSIONS: The findings have implications for the development of training programs for HCPs, emphasizing the need for tailored training based on professions. Future research should explore the needs of HCPs caring for families with diverse hereditary cancers and cultural backgrounds.

16.
Fam Cancer ; 23(2): 121-132, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38662264

RESUMO

Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms included 'hereditary breast and ovarian cancer' and 'cascade genetic testing' for studies published from 2012-2022. Through searching common databases, and manual search of references, 480 studies were identified after excluding duplications. Each article was reviewed by two researchers independently and 20 studies were included in the final analysis. CASP, RoBANS 2.0, RoB 2.0, and MMAT were used to assess the quality of included studies. A convergent data synthesis method was used to integrate evidence from quantitative and narrative data into categories and subcategories. Evidence points to 3 categories and 12 subcategories of psychosocial barriers and facilitators for cascade testing: (1) facilitators (belief in health protection and prevention; family closeness; decisional empowerment; family support, sense of responsibility; self-efficacy; supportive health professionals); (2) bidirectional concepts (information; perception of genetic/cancer consequences; negative emotions and attitude); and (3) barriers (negative reactions from family and negative family dynamics). Healthcare providers need to systematically evaluate these psychosocial factors, strengthen facilitators and alleviate barriers to promote informed decision-making for communication of genetic test results and uptake of genetic testing. Bidirectional factors merit special consideration and tailored approaches, as they can potentially have a positive or negative influence on family communication and uptake of genetic testing.


Assuntos
Predisposição Genética para Doença , Testes Genéticos , Humanos , Feminino , Predisposição Genética para Doença/psicologia , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/psicologia , Neoplasias Ovarianas/diagnóstico , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Síndrome Hereditária de Câncer de Mama e Ovário/psicologia , Síndrome Hereditária de Câncer de Mama e Ovário/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/psicologia , Neoplasias da Mama/diagnóstico , Família/psicologia
17.
BMC Cancer ; 13: 97, 2013 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-23448100

RESUMO

BACKGROUND: The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer. METHODS/DESIGN: The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20-45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors' high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors': a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives' baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention. DISCUSSION: The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics.


Assuntos
Neoplasias da Mama/diagnóstico , Relações Familiares , Programas de Rastreamento/métodos , Seleção de Pacientes , Sistema de Registros , Sobreviventes , Adulto , Neoplasias da Mama/genética , Feminino , Comportamentos Relacionados com a Saúde , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Programas de Rastreamento/estatística & dados numéricos , Michigan , Pessoa de Meia-Idade , Estudos Prospectivos , Inquéritos e Questionários , Adulto Jovem
18.
Psychooncology ; 22(6): 1336-43, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22826208

RESUMO

BACKGROUND: Little is known about family members' interrelated decisions to seek genetic testing for breast cancer susceptibility. METHODS: The specific aims of this cross-sectional, descriptive, cohort study were (i) to examine whether individual and family characteristics have a direct effect on women's decisions to use genetic testing for hereditary susceptibility to breast cancer and (ii) to explore whether family characteristics moderate the relationships between individual characteristics and the decision to use genetic testing. Participants were women (>18 years old) who (i) received genetic testing for hereditary breast cancer and who agreed to invite one of their female relatives into the study and (ii) female relatives who had NOT obtained genetic testing and were identified by pedigree analysis as having >10% chances of hereditary susceptibility to breast cancer. RESULTS: The final sample consisted of 168 English-speaking, family dyads who completed self-administered, mailed surveys with validated instruments. Multivariate conditional logistic regression analyses showed that the proposed model explained 62% of the variance in genetic testing. The factors most significantly associated with genetic testing were having a personal history of cancer; perceiving genetic testing to have more benefits than barriers; having greater family hardiness; and perceiving fewer negative consequences associated with a breast cancer diagnosis. No significant interaction effects were observed. CONCLUSIONS: Findings suggest that both individual and family characteristics are associated with the decision to obtain genetic testing for hereditary breast cancer; hence, there is a need for interventions that foster a supportive family environment for patients and their high-risk relatives.


Assuntos
Neoplasias da Mama/genética , Tomada de Decisões , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença/psicologia , Testes Genéticos/estatística & dados numéricos , Adulto , Idoso , Atitude Frente a Saúde , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/psicologia , Estudos Transversais , Família , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Estudos Retrospectivos , Risco , Inquéritos e Questionários
19.
Cancers (Basel) ; 15(23)2023 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-38067305

RESUMO

Precision health refers to personalized healthcare that combines genetic and genomic sequence, protein, metabolite, and microbiome information (collectively known as "omics" information) with lifestyle, social, economic, cultural, and environmental influences to help individuals achieve optimal health and well-being [...].

20.
Front Public Health ; 11: 1186107, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37601198

RESUMO

Approximately 60 million people require palliative care worldwide, and nearly 80% of them live in low- and middle-income countries (LMICs). Providing palliative care in remote and rural areas of LMICs requires special consideration to ensure equitable access to healthcare. This perspective aims to deliver pragmatic, context-oriented policy recommendations designed to improve palliative care outcomes in Kazakhstan by capitalizing on existing resources and considering its unique geopolitical and sociocultural context. With approximately half of the population in Kazakhstan residing in remote and rural regions, the provision of healthcare services - specifically palliative care - mandates particular attention to ensure equal access to high-quality care. To understand challenges of implementing palliative care in remote and rural regions of Kazakhstan and to propose tailored solutions, 29 key stakeholders, including family caregivers, health professionals, and palliative care administrators, were identified in five regions of Kazakhstan. The main challenges encountered by family caregivers include lack of palliative care skills, the need for home-based care from mobile services, and high out-of-pocket expenditures. The challenges highlighted by healthcare providers and administrators were the lack of formal education in palliative care, shortage of opioids, and limited societal awareness and state support. Based on challenges elaborated from stakeholders and existing literature in palliative care and family caregiving, this perspective advocates against replicating the strategies implemented in high-income countries. Family caregivers play a critical role in implementing affordable and efficient palliative care in resource-limited settings. Enhancing their competencies through digital training and increasing access to palliative care services through mobile teams are tailored and localized solutions that address specific challenges in Kazakhstan. It is postulated that these recommendations may find utility in other LMICs, potentially benefiting nearly 48 million individuals who require these services.


Assuntos
Cuidadores , Cuidados Paliativos , Humanos , Países em Desenvolvimento , Cazaquistão , Pessoal de Saúde
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