RESUMO
PURPOSE: Several professional organizations recommend universal genetic assessment for people with ovarian cancer as identifying pathogenic variants can affect treatment, prognosis, and all-cause mortality for patients and relatives. We sought to evaluate the literature on genetic assessment for women with ovarian cancer and determine if any interventions or patient characteristics drive utilization of services. METHODS: We searched key electronic databases to identify trials that evaluated genetic assessment for people with ovarian cancer. Trials with the primary aim to evaluate utilization of genetic assessment with or without interventions were included. Eligible trials were subjected to meta-analysis and the moderating influence of health interventions on rates of genetic assessment were examined. RESULTS: A total of 35 studies were included (19 report on utilization of genetic services without an intervention, 7 with an intervention, and 9 with both scenarios). Without an intervention, pooled estimates for referral to genetic counseling and completion of genetic testing were 39% [CI 27-53%] and 30% [CI 19-44%]. Clinician-facilitated interventions included: mainstreaming of genetic services (99% [CI 86-100%]), telemedicine (75% [CI 43-93%]), clinic-embedded genetic counselor (76% [CI 32-95%]), reflex tumor somatic genetic assessment (64% [CI 17-94%]), universal testing (57% [28-82%]), and referral forms (26% [CI 10-53%]). Random-effects pooled proportions demonstrated that Black vs. White race was associated with a lower rate of genetic testing (26%[CI 17-38%] vs. 40% [CI 25-57%]) as was being un-insured vs. insured (23% [CI 18-28%] vs. 38% [CI 26-53%]). CONCLUSIONS: Reported rates of genetic testing for people with ovarian cancer remain well below the goal of universal testing. Interventions such as mainstreaming can improve testing uptake. Strategies aimed at improving utilization of genetic services should consider existing disparities in race and insurance status.
Assuntos
Detecção Precoce de Câncer/estatística & dados numéricos , Aconselhamento Genético/organização & administração , Testes Genéticos/estatística & dados numéricos , Neoplasias Ovarianas/diagnóstico , Encaminhamento e Consulta/organização & administração , Proteína BRCA1/genética , Proteína BRCA2/genética , Análise Mutacional de DNA/estatística & dados numéricos , Feminino , Aconselhamento Genético/estatística & dados numéricos , Humanos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Encaminhamento e Consulta/estatística & dados numéricos , Telemedicina/organização & administração , Telemedicina/estatística & dados numéricosRESUMO
The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID-19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow-up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID-19 pandemic, this pilot-program was deployed by the full team of 22 providers in one business day. Two physicians remained on-site for patients requiring in-person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no-show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well-beyond the current crisis.
Assuntos
COVID-19/epidemiologia , Atenção à Saúde/organização & administração , Endocrinologia/organização & administração , Genética Médica/organização & administração , Modelos Organizacionais , Pandemias , Telemedicina/organização & administração , Adolescente , Adulto , Criança , Pré-Escolar , Atenção à Saúde/métodos , Atenção à Saúde/normas , Endocrinologia/educação , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Aconselhamento Genético/normas , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/terapia , Testes Genéticos/métodos , Testes Genéticos/normas , Genética Médica/educação , Humanos , Ciência da Implementação , Lactente , Recém-Nascido , Internato e Residência/métodos , Internato e Residência/organização & administração , Internato e Residência/normas , Masculino , Doenças Metabólicas/epidemiologia , Doenças Metabólicas/terapia , Pessoa de Meia-Idade , Segurança do Paciente , Projetos Piloto , Avaliação de Programas e Projetos de Saúde , Telemedicina/métodos , Adulto JovemRESUMO
Approximately 1 in 2 Japanese people are estimated to be diagnosed with cancer during their lifetime. Cancer still remains the leading cause of death in Japan, therefore the government of Japan has decided to develop a better cancer control policy and launched the Cancer Genomic Medicine (CGM) program. The Ministry of Health, Labour, and Welfare (MHLW) held a consortium at their headquarters with leading academic authorities and the representatives of related organizations to discuss ways to advance CGM in Japan. Based on the report of the consortium, the CGM system under the national health insurance system has gradually been realized. Eleven hospitals were designated in February 2018 as core hospitals for CGM; subsequently, the MHLW built the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) as an institution to aggregate and manage genomic and clinical information on cancer patients, and support appropriate secondary use of the aggregated information to develop research aimed at medical innovation. As the first step in Japan's CGM in routine practice, in June 2019 the MHLW started reimbursement of 2 types of tumor profiling tests for advanced solid cancer patients using the national insurance system. Japan's CGM has swiftly been spreading nationwide with the collaboration of 167 hospitals and patients. The health and research authorities are expected to embody personalized cancer medicine and promote CGM utilizing state-of-the-art technologies.
Assuntos
Genômica/organização & administração , Implementação de Plano de Saúde , Oncologia/organização & administração , Programas Nacionais de Saúde/organização & administração , Neoplasias/terapia , Ensaios Clínicos como Assunto/organização & administração , Aconselhamento Genético/economia , Aconselhamento Genético/organização & administração , Testes Genéticos/economia , Genômica/economia , Genômica/métodos , Humanos , Japão , Oncologia/economia , Oncologia/métodos , Programas Nacionais de Saúde/economia , Neoplasias/diagnóstico , Neoplasias/economia , Neoplasias/genética , Medicina de Precisão/economia , Medicina de Precisão/métodos , Mecanismo de Reembolso , Terapias em Estudo/economiaAssuntos
Infecções por Coronavirus/epidemiologia , Aconselhamento Genético/organização & administração , Genética Médica/organização & administração , Pandemias , Pneumonia Viral/epidemiologia , Software , Telemedicina/organização & administração , Betacoronavirus/patogenicidade , COVID-19/virologia , Infecções por Coronavirus/virologia , Genética Médica/instrumentação , Genética Médica/métodos , Acessibilidade aos Serviços de Saúde/ética , Acessibilidade aos Serviços de Saúde/organização & administração , Disparidades em Assistência à Saúde/ética , Humanos , Pneumonia Viral/virologia , Garantia da Qualidade dos Cuidados de Saúde , SARS-CoV-2 , Telemedicina/instrumentação , Telemedicina/métodosRESUMO
In 2010, the National Society of Genetic Counselors (NSGC) membership was surveyed about their use of genetic counseling service delivery models (SDMs) including in-person, telephone, telegenetics, and group genetic counseling. Since that time, the demand for genetic counseling services has increased in the United States (US). We hypothesized that the use of various SDMs has increased to help address the growing demand. To assess for changes in SDM use and interest in implementing innovative SDMs, the NSGC SDM subcommittee sent an electronic survey to the NSGC membership (N = 3,616), which was open from August 2017 to December 2017. Descriptive statistics and chi-square analysis were used to compare and identify differences in SDM utilization between 2010 and 2017. There were 590 total responses (16.3% response rate) with 517 usable responses, representing multiple genetic counseling specialties. Compared to 2010, significantly fewer respondents indicated they 'always' provide services in-person in 2017 (p < .04, df = 4), with 92.6% of respondents reporting 'always' or 'often' utilizing in-person SDM in 2017. Telephone genetic counseling was reported by 12.5% as a model used always or often, compared to 8% in 2010; however, the shift toward or away from telephone genetic counseling since 2010 was not statistically significant (p = .27, df = 4). The number of respondents using telegenetics always or often increased from 2.3% in 2010 to 6.7% in 2017, and more respondents report using telegenetics at an increased frequency (p < .01, df = 4). In contrast, those reporting use of a group genetic counseling SDM always or often decreased from 3.0% to 1.4%, though there was not a significant shift toward or away the frequency of respondents using group genetic counseling (p = .21, df = 4). Almost all respondents (93%) were interested in implementing an additional and/or different SDM; however, many (74%) identified barriers to implementation. There was an increase in those reporting use of 3 or 4 SDMs in practice since 2010 (p < .02). Genetic counselors may be attempting to compensate for longer wait times by implementing additional SDMs to improve access for patients. There is strong interest in learning about and implementing innovative SDMs to improve access and efficiency. However, resources need to be developed to help genetic counselors identify and overcome implementation barriers to achieve these goals.
Assuntos
Aconselhamento Genético/organização & administração , Modelos Organizacionais , Inovação Organizacional , Estudos Transversais , Feminino , História do Século XXI , Humanos , Masculino , Estados UnidosRESUMO
BACKGROUND: Lynch syndrome (LS) is the most frequent form of hereditary colorectal cancer (CRC; up to 3-5% of the total CRC burden) and predisposes to the development of other cancers. Multidisciplinary diagnostic strategies are relevant both to the index cases and to their at-risk relatives, but their implementation is still limited. Our study aimed to explore LS testing practices in Italy. METHODS: In order to ascertain the current practice of LS diagnosis and management, we conducted a qualitative assessment by sending a questionnaire to health care professionals at 4 Italian hospitals selected as "models" representing different hospital settings. Based on the surveys, we reconstructed the management pathways for CRC patients in terms of diagnostic strategies and health professionals involved. RESULTS: Seven of the 8 invited professionals filled in the questionnaire. Noncompliance with the latest guidelines was reported, as no tumor "screening" was performed on CRC cases. The lack of a structured multidisciplinary team who manages CRC patients from risk assessment to diagnosis and follow-up was reported. The availability of professionals and laboratory technologies differ widely between hospitals. As for cascade testing of at-risk relatives, a systematic and active approach was absent in all the considered hospitals. CONCLUSIONS: Our study shows that no structured and standardized pathways for the diagnosis and management of LS patients are currently in place in Italy. We envisage that by extending our research to further experiences and countries, an increasing awareness of the topic can be translated into a health gain for hereditary CRC patients and their at-risk relatives.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Aconselhamento Genético/organização & administração , Testes Genéticos/métodos , Padrões de Prática Médica , Adulto , Neoplasias Colorretais Hereditárias sem Polipose/genética , Procedimentos Clínicos/organização & administração , Gerenciamento Clínico , Feminino , Pessoal de Saúde , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The US Preventive Services Task Force (USPSTF) endorses routine screening for genetic risk of breast and/or ovarian cancer as a component of primary health care. Implementation of this recommendation may prove challenging, especially in clinics serving disadvantaged communities. METHODS: The authors tested the feasibility of implementing the USPSTF mandate at a federally qualified health center (FQHC) to identify women who were eligible for genetic counseling (GC). A 12-month usual-care phase was followed by a 12-month intervention phase, during which time cancer genetic risk assessment (CGRA) was systematically performed for all women aged 25 to 69 years who presented for an annual examination. Women who were eligible for GC were recruited to participate in the study. RESULTS: After initiating CGRA, 112 women who were eligible for GC consented to study participation, and 56% of them received a referral for GC from their primary care physician. A subgroup of 50 participants were seen by the same primary care physician during both the usual-care and intervention phases. None of these patients was referred for GC during usual care, compared with 64% after the initiation of CGRA (P < .001). Only 16% of referred participants attended a GC session. CONCLUSIONS: Implementing USPSTF recommendations for CGRA as a standard component of primary health care in FQHCs is feasible and improves referral of minority women for GC, but more work is needed to understand the beliefs and barriers that prevent many underserved women from accessing cancer genetic services.
Assuntos
Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Testes Genéticos , Implementação de Plano de Saúde , Médicos de Atenção Primária/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Adulto , Idoso , Neoplasias da Mama/epidemiologia , Chicago/epidemiologia , Estudos de Viabilidade , Feminino , Financiamento Governamental , Aconselhamento Genético/economia , Aconselhamento Genético/organização & administração , Aconselhamento Genético/estatística & dados numéricos , Testes Genéticos/economia , Testes Genéticos/métodos , Testes Genéticos/estatística & dados numéricos , Implementação de Plano de Saúde/economia , Implementação de Plano de Saúde/organização & administração , Implementação de Plano de Saúde/estatística & dados numéricos , Disparidades nos Níveis de Saúde , Humanos , Programas de Rastreamento/economia , Programas de Rastreamento/métodos , Programas de Rastreamento/estatística & dados numéricos , Pessoa de Meia-Idade , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/genética , Médicos de Atenção Primária/economia , Padrões de Prática Médica/economia , Padrões de Prática Médica/estatística & dados numéricos , Serviços Preventivos de Saúde/métodos , Atenção Primária à Saúde/métodos , Avaliação de Programas e Projetos de Saúde , Encaminhamento e Consulta/economia , Encaminhamento e Consulta/organização & administração , Medição de Risco , Estados Unidos/epidemiologiaRESUMO
OBJECTIVE: Analyze the impact of embedding genetic counseling services in gynecologic oncology on clinician referral and patient uptake of cancer genetics services. METHODS: Data were reviewed for a total of 737 newly diagnosed epithelial ovarian cancer patients seen in gynecologic oncology at a large academic medical center including 401 from 11/2011-7/2014 (a time when cancer genetics services were provided as an off-site consultation). These data were compared to data from 8/2014-9/2016 (n=336), when the model changed to the genetics embedded model (GEM), incorporating a cancer genetic counselor on-site in the gynecologic oncology clinic. RESULTS: A statistically significant difference in proportion of patients referred pre- and post-GEM was observed (21% vs. 44%, p<0.0001). Pre-GEM, only 38% of referred patients were actually scheduled for genetics consultation and post-GEM 82% were scheduled (p<0.00001). The difference in the time from referral to scheduling in genetics was also statistically significant (3.92months pre-GEM vs. 0.79months post-GEM, p<0.00001) as was the time from referral to completion of genetics consultation (2.52months pre-GEM vs. 1.67months post-GEM, p<0.01). Twenty-five percent of patients referred post GEM were seen by the genetic counselor on the same day as the referral. CONCLUSIONS: Providing cancer genetics services on-site in gynecologic oncology and modifying the process by which patients are referred and scheduled significantly increases referral to cancer genetics and timely completion of genetics consultation, improving compliance with guideline-based care. Practice changes are critical given the impact of genetic test results on treatment and familial cancer risks.
Assuntos
Aconselhamento Genético/organização & administração , Neoplasias dos Genitais Femininos/genética , Fidelidade a Diretrizes/normas , Serviço Hospitalar de Oncologia/organização & administração , Encaminhamento e Consulta/organização & administração , Adulto , Idoso , Prestação Integrada de Cuidados de Saúde/organização & administração , Feminino , Predisposição Genética para Doença , Neoplasias dos Genitais Femininos/terapia , Acessibilidade aos Serviços de Saúde/organização & administração , Humanos , Pessoa de Meia-Idade , Modelos OrganizacionaisRESUMO
Birth defects are the leading cause of infant death in the United States and among the top causes of pediatric death and hospitalization. Despite the devastating impact of birth defects, we understand little of their etiology impeding progress towards treatment and prevention. Moreover, while surgical interventions have improved survival for many children to beyond their first year, our inability to accurately predict, diagnose and treat the common sequelae of birth defects leaves the economic, social and public health burden of birth defects unacceptably high. An estimated one-third of all pediatric hospital beds are occupied by a child with a genetic diagnosis, and emerging genomic sequencing technologies provide an unprecedented opportunity to identify the genetic variants, including those that cause birth defects. It is essential that we leverage these advances to enhance our understanding of birth defects. Such an effort will lead to new avenues for treatment and provide benefits to families, including improved understanding of the cause of a child's condition and the risks to any future children. Understanding the genetics of human birth defects presents many challenges, some shared with other pathologies and some unique. This White Paper outlines the need for a birth defect genomics initiative, the challenges to overcome, and suggested solutions. Ultimately, we conclude that understanding birth defects must be a trans-NIH effort and involve the development of a new type of interdisciplinary team comprised of clinicians, geneticists, genomicists, epidemiologists, biostatisticians and basic cellular and developmental biologists working together in all aspects of the enterprise. Birth Defects Research 109:180-185, 2017. © 2017 Wiley Periodicals, Inc.
Assuntos
Anormalidades Congênitas/genética , Obtenção de Fundos/organização & administração , Política de Saúde/legislação & jurisprudência , Pesquisa Interdisciplinar/economia , Criança , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/prevenção & controle , Anormalidades Congênitas/terapia , Aconselhamento Genético/economia , Aconselhamento Genético/organização & administração , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Lactente , Pesquisa Interdisciplinar/educação , Colaboração Intersetorial , Estados UnidosRESUMO
OBJECTIVE: To determine genetic counselors' current practices and management needs for patients with prenatal cfDNA screening results indicative of maternal neoplasm. METHODS: A survey was completed by genetic counselors recruited via the National Society of Genetic Counselors (NSGC). RESULTS: Over 300 genetic counselors were surveyed. Almost all participants (95%) were aware that Noninvasive Prenatal Testing (NIPT) results may suggest maternal neoplasm, and 77% reported they would disclose such results. However, only 29% routinely communicate this possibility to patients in a pre-test setting. Management recommendations made by counselors were highly variable, and over half (51.8%) stated they would feel uncomfortable or very uncomfortable counseling a patient with these results. While less than half (44.3%) believed the current benefits of NIPT's ability to suggest maternal neoplasm outweigh its potential harms, 80.2% recognized it would be beneficial in the future. A vast majority of counselors (91.3%) felt institutional or national guidelines were needed for patient management. CONCLUSION: A majority of counselors neither felt properly equipped nor comfortable counseling patients with prenatal cfDNA results suggestive of maternal neoplasm. This study demonstrates a need for collaboration amongst clinicians, researchers, and laboratories to publish data regarding NIPT results indicative of maternal neoplasm, and for the creation of management guidelines. © 2016 John Wiley & Sons, Ltd.
Assuntos
Atitude do Pessoal de Saúde , DNA de Neoplasias/isolamento & purificação , Aconselhamento Genético , Necessidades e Demandas de Serviços de Saúde , Padrões de Prática Médica/estatística & dados numéricos , Complicações Neoplásicas na Gravidez/diagnóstico , Diagnóstico Pré-Natal/estatística & dados numéricos , DNA/análise , DNA/sangue , DNA de Neoplasias/sangue , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Aconselhamento Genético/estatística & dados numéricos , Necessidades e Demandas de Serviços de Saúde/organização & administração , Necessidades e Demandas de Serviços de Saúde/normas , Necessidades e Demandas de Serviços de Saúde/estatística & dados numéricos , Humanos , Padrões de Prática Médica/normas , Gravidez , Complicações Neoplásicas na Gravidez/sangue , Complicações Neoplásicas na Gravidez/genética , Diagnóstico Pré-Natal/métodos , Encaminhamento e Consulta/estatística & dados numéricos , Inquéritos e Questionários , Revelação da VerdadeRESUMO
BACKGROUND: Population carrier screening (PCS) has been available in Israel since 1999 and universally subsidized since 2008. We sought to evaluate its impact. METHODS: A retrospective review of governmental databanks, the national CF registry and CF centers. RESULTS: CF rate per 100,000 live births has decreased from 14.5 in 1990 to 6 in 2011. From 2004-2011 there were 95 CF births: 22 utilized PCS; 68 (72%) had 2 known CFTR mutations; 37% were pancreatic sufficient. At diagnosis, age was 6 (0-98) months; 53/95 had respiratory symptoms, 41/95 failure to thrive and 19/95 pseudomonas. Thirty-four (36%) were Arabs and 19 (20%) orthodox Jews, compared to 20% and 8% respectively, in the general population. CONCLUSIONS: PCS markedly reduced CF birth rates with a shift towards milder mutations, but was often avoided for cultural reasons. As children regularly have significant disease at diagnosis, we suggest a balanced approach, utilizing both PCS and newborn screening.
Assuntos
Fibrose Cística , Triagem Neonatal , Diagnóstico Pré-Natal , Adulto , Coeficiente de Natalidade , Fibrose Cística/diagnóstico , Fibrose Cística/etnologia , Fibrose Cística/genética , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Saúde da Família , Feminino , Triagem de Portadores Genéticos/métodos , Triagem de Portadores Genéticos/estatística & dados numéricos , Aconselhamento Genético/organização & administração , Humanos , Lactente , Recém-Nascido , Israel/epidemiologia , Masculino , Mutação , Programas Nacionais de Saúde/estatística & dados numéricos , Triagem Neonatal/métodos , Triagem Neonatal/tendências , Gravidez , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/tendências , Medição de Risco/métodosRESUMO
The aim of this paper is twofold: to analyze the genetic counseling process for breast cancer with a theoretical knowledge transfer lens and to compare generalists, medical specialists, and genetic counselors with regards to their genetic counseling practices. This paper presents the genetic counseling process occurring within a chain of value-adding activities of four main stages describing health professionals' clinical practices: (1) evaluation, (2) investigation, (3) information, and (4) decision. It also presents the results of a cross-sectional study based on a Canadian medical doctors and genetic counselors survey (n = 176) realized between July 2012 and March 2013. The statistical exercise included descriptive statistics, one-way ANOVA and post-hoc tests. The results indicate that even though all types of health professionals are involved in the entire process of genetic counseling for breast cancer, genetic counselors are more involved in the evaluation of breast cancer risk, while medical doctors are more active in the decision toward breast cancer risk management strategies. The results secondly demonstrate the relevance and the key role of genetic counselors in the care provided to women at-risk of familial breast cancer. This paper presents an integrative framework to understand the current process of genetic counseling for breast cancer in Canada, and to shed light on how and where health professionals contribute to the process. It also offers a starting point for assessing clinical practices in genetic counseling in order to establish more clearly where and to what extent efforts should be undertaken to implement future genetic services.
Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético , Oncologia/organização & administração , Canadá , Estudos Transversais , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde , Humanos , Médicos , Medição de RiscoRESUMO
BACKGROUND: A program for the prevention of major hemoglobinopathies was initiated in 2008 in the Kurdistan region of Iraq. This study reports on the achievements and challenges of the program. METHODS: A total of 102,554 individuals (51,277 couples) visiting a premarital center between 2008 and 2012 were screened for carrier status of hemoglobinopathies, and at-risk couples were counseled. RESULTS: A total of 223 (4.3/1,000) couples were identified and counseled as high-risk couples. Available data on 198 high-risk couples indicated that 90.4% proceeded with their marriage plans, and 15% of these married couples decided to have prenatal diagnosis (PND) in subsequent pregnancies with the identification of 8 affected fetuses; all were terminated as chosen by the parents. Thirty affected births were recorded among the high-risk couples. The premarital program managed to reduce the affected birth rate of major hemoglobinopathies by 21.1%. Of the 136 affected babies born during the study period, 77.9% were born to couples married prior to the start of the program, while 22.1% were born to couples identified as having a high risk. The main reason for not taking the option of PND was unaffordable costs. CONCLUSIONS: Financial support would have increased opting for PND by high-risk couples. Further reduction in affected birth rates could be achieved by including parallel antenatal screening programs to cover those married before the initiation of the premarital program and improving the public health education and counseling programs.
Assuntos
Aconselhamento Genético , Hemoglobinopatias , Cuidado Pré-Concepcional , Diagnóstico Pré-Natal , Adulto , Saúde da Família/economia , Saúde da Família/educação , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Educação em Saúde , Hemoglobinopatias/classificação , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia , Hemoglobinopatias/prevenção & controle , Humanos , Recém-Nascido , Iraque/epidemiologia , Masculino , Programas de Rastreamento/métodos , Cuidado Pré-Concepcional/métodos , Cuidado Pré-Concepcional/organização & administração , Gravidez , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/métodos , Avaliação de Programas e Projetos de SaúdeRESUMO
The review presents main causes and tasks of organization of medical genetic counseling targeted to preventing occurrence of patients with inherent and inborn pathology in families. It is demonstrated that improvement of methods of prenatal diagnostic increased effectiveness of medical genetic counseling. The resolution of problems of medical genetic counseling depends on population education and organization of preventive activities at the level of district physicians, family physicians and gynecologists.
Assuntos
Anormalidades Congênitas/prevenção & controle , Aconselhamento Genético/normas , Doenças Genéticas Inatas/prevenção & controle , Serviços de Saúde/normas , Diagnóstico Pré-Natal/normas , Anormalidades Congênitas/genética , Aconselhamento Genético/organização & administração , Doenças Genéticas Inatas/genética , Humanos , Federação RussaRESUMO
Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted a systematic review of empirical evidence on this topic. Nine studies were included in the review. Barriers related to non-genetic healthcare professionals were: lack of awareness of patient risk factors, failure to obtain adequate family history, lack of knowledge of genetics and genetic conditions, lack of awareness of genetic services, inadequate coordination of referral and lack of genetics workforce. Those related to individuals affected by or at risk of a genetic condition were: lack of awareness of personal risk, lack of knowledge and/or awareness of medical history of family members and lack of knowledge of genetic services. Research on access to genetic services is heterogeneous; stronger empirical evidence is needed on factors that are barriers, and further research is needed to develop 'targeted interventions' for equitable access to genetic services in a range of populations.
Assuntos
Testes Genéticos/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Atenção à Saúde , Aconselhamento Genético/organização & administração , Aconselhamento Genético/estatística & dados numéricos , Encaminhamento e Consulta/organização & administraçãoRESUMO
Breast cancer is the most prevalent malignancy among women, whilst ovarian cancer is less common but carries a graver prognosis. Carriers of the BRCA mutations have a few-fold higher risk for those diseases. Genetic counseling for the families at risk has been available for almost two decades, since the definition of the mutation. The existence of the deleterious mutation has implications beyond the individual level and touches the lives and future of many other family members. Being part of a BRCA family has medical as well as psychosocial implications. Various barriers and facilitators must be dealt with during the process of sharing the information with kins. Most families cope well with those issues, while some require the guidance of professionals. Special subpopulations, i.e. non-carrier women in BRCA families, young carriers and men who are under minimal personal threat but might transfer the mutation to their off springs, have special needs which should be addressed. The desired outcome of the counseling process is achievement of normal adaptation which balances life in the shadow of uncertainty and threat with the ability to lead a normal life. The process of counseling is multidisciplinary, and along with the advances in scientific and medical aspects, the ethical, legal and social implications (ELSI) have also been developed. The professional personnel escorting those families need to develop and maintain specific skills.
Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/psicologia , Neoplasias Ovarianas/genética , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/psicologia , Competência Clínica , Saúde da Família , Feminino , Aconselhamento Genético/organização & administração , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Mutação , Neoplasias Ovarianas/psicologiaRESUMO
We established a general genetic counseling clinic (GCC) to help reduce long wait times for new patient appointments and to enhance services for a subset of patients. Genetic counselors, who are licensed in Tennessee, were the primary providers and MD geneticists served as medical advisors. This article describes the clinic referral sources, reasons for referral and patient dispositions following their GCC visit(s). We obtained patients by triaging referrals made to our medical genetics division. Over 24 months, our GCC provided timely visits for 321 patients, allowing the MD geneticists to focus on patients needing a clinical exam and/or complex medical management. Following their GCC visit(s), over 80 % of patients did not need additional appointments with an MD geneticist. The GCC allowed the genetic counselor to spend more time with patients than is possible in our traditional medical genetics clinic. Patient satisfaction surveys (n = 30) were very positive overall concerning the care provided. Added benefits for the genetic counselors were increased professional responsibility, autonomy and visibility as health care providers. We conclude that genetic counselors are accepted as health care providers by patients and referring providers for a subset of clinical genetics cases. A GCC can expand genetic services, complement more traditional genetic clinic models and utilize the strengths of the genetic counselor health care provider.
Assuntos
Aconselhamento Genético/organização & administração , Coleta de Dados , Necessidades e Demandas de Serviços de Saúde , Humanos , Modelos Teóricos , Satisfação do PacienteRESUMO
The completion of the Human Genome Project has led to a greater understanding of the role of genetics/genomics in the development of all common diseases, which is leading to the routine integration of genetics and genomics into all aspects of health care. This change in practice presents new challenges for health care professionals. This article provides an overview of how genetics/genomics has the potential to improve health care within many different clinical scenarios, and highlights the key issues for nurses working in a variety of settings.
Assuntos
Genética Médica/organização & administração , Genômica/organização & administração , Papel do Profissional de Enfermagem , Processo de Enfermagem/organização & administração , Padrões de Prática em Enfermagem/organização & administração , Medicina de Precisão/enfermagem , Aconselhamento Genético/organização & administração , Genoma Humano , Genômica/educação , Necessidades e Demandas de Serviços de Saúde , Humanos , Neoplasias/genética , Neoplasias/enfermagemRESUMO
Since 2003, genetics and genomics information has led to exciting new diagnostics, prognostics, and treatment options in oncology practice. Profiling of cancers offers providers insight into treatment and prognostic factors. Germline testing provides an individual with information for surveillance or therapy that may help them prevent cancer in their lifetime and options for family members as yet untouched by malignancy. This offers a challenge for oncology nurses and other oncology health care providers to become comfortable with incorporating education about genetics/genomics into their clinical practice and patient education.
Assuntos
Genética Médica/organização & administração , Genômica/organização & administração , Neoplasias/genética , Neoplasias/enfermagem , Processo de Enfermagem/organização & administração , Padrões de Prática em Enfermagem/organização & administração , Aconselhamento Genético/organização & administração , Genômica/educação , Necessidades e Demandas de Serviços de Saúde , Humanos , Papel do Profissional de Enfermagem , Medicina de Precisão/enfermagemRESUMO
Providers of women's health services are often confronted with questions about cancer genetic testing. The provision of these services is complex. The process begins with accurate risk assessment and identification of individuals who might benefit from genetic testing services. There are practice, administrative, legal, and ethical considerations that should be considered when developing policies for the referral of at-risk individuals or before deciding to provide genetic services.