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1.
Am J Perinatol ; 37(8): 800-808, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32396948

RESUMO

As New York City became an international epicenter of the novel coronavirus disease 2019 (COVID-19) pandemic, telehealth was rapidly integrated into prenatal care at Columbia University Irving Medical Center, an academic hospital system in Manhattan. Goals of implementation were to consolidate in-person prenatal screening, surveillance, and examinations into fewer in-person visits while maintaining patient access to ongoing antenatal care and subspecialty consultations via telehealth virtual visits. The rationale for this change was to minimize patient travel and thus risk for COVID-19 exposure. Because a large portion of obstetric patients had underlying medical or fetal conditions placing them at increased risk for adverse outcomes, prenatal care telehealth regimens were tailored for increased surveillance and/or counseling. Based on the incorporation of telehealth into prenatal care for high-risk patients, specific recommendations are made for the following conditions, clinical scenarios, and services: (1) hypertensive disorders of pregnancy including preeclampsia, gestational hypertension, and chronic hypertension; (2) pregestational and gestational diabetes mellitus; (3) maternal cardiovascular disease; (4) maternal neurologic conditions; (5) history of preterm birth and poor obstetrical history including prior stillbirth; (6) fetal conditions such as intrauterine growth restriction, congenital anomalies, and multiple gestations including monochorionic placentation; (7) genetic counseling; (8) mental health services; (9) obstetric anesthesia consultations; and (10) postpartum care. While telehealth virtual visits do not fully replace in-person encounters during prenatal care, they do offer a means of reducing potential patient and provider exposure to COVID-19 while providing consolidated in-person testing and services. KEY POINTS: · Telehealth for prenatal care is feasible.. · Telehealth may reduce coronavirus exposure during prenatal care.. · Telehealth should be tailored for high risk prenatal patients..


Assuntos
Infecções por Coronavirus , Controle de Infecções/organização & administração , Pandemias , Pneumonia Viral , Complicações na Gravidez , Gravidez de Alto Risco , Cuidado Pré-Natal , Telemedicina , Betacoronavirus/isolamento & purificação , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Feminino , Aconselhamento Genético/métodos , Acesso aos Serviços de Saúde/organização & administração , Acesso aos Serviços de Saúde/tendências , Humanos , Cidade de Nova Iorque/epidemiologia , Pandemias/prevenção & controle , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Gravidez , Complicações na Gravidez/diagnóstico , Complicações na Gravidez/prevenção & controle , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/organização & administração , Cuidado Pré-Natal/tendências , Diagnóstico Pré-Natal/métodos , Consulta Remota/métodos , Telemedicina/instrumentação , Telemedicina/métodos , Telemedicina/organização & administração
2.
Clin J Oncol Nurs ; 24(3): 244-248, 2020 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-32441683

RESUMO

During the COVID-19 pandemic, in-person provision of cancer genetic counseling and education services was not possible for a prolonged period. This article outlines why such services can continue remotely, despite the disruption of a pandemic, as well as describes the strengths and limitations of remote counseling to individuals and families about their hereditary risk for developing cancer. Considerations for the provision of remote counseling and some of the challenges of telehealth, with potential solutions, are described.


Assuntos
Infecções por Coronavirus/epidemiologia , Aconselhamento Genético/métodos , Neoplasias/enfermagem , Pandemias , Pneumonia Viral/epidemiologia , Telemedicina , Humanos , Neoplasias/genética
3.
Pediatrics ; 145(6)2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32457214

RESUMO

Achondroplasia is the most common short-stature skeletal dysplasia, additionally marked by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. Potential medical complications associated with achondroplasia include lower extremity long bone bowing, middle-ear dysfunction, obstructive sleep apnea, and, more rarely, cervicomedullary compression, hydrocephalus, thoracolumbar kyphosis, and central sleep apnea. This is the second revision to the original 1995 health supervision guidance from the American Academy of Pediatrics for caring for patients with achondroplasia. Although many of the previously published recommendations remain appropriate for contemporary medical care, this document highlights interval advancements in the clinical methods available to monitor for complications associated with achondroplasia. This document is intended to provide guidance for health care providers to help identify individual patients at high risk of developing serious sequelae and to enable intervention before complications develop.


Assuntos
Acondroplasia/diagnóstico , Acondroplasia/terapia , Política de Saúde/tendências , Guias de Prática Clínica como Assunto , Acondroplasia/genética , Aconselhamento Genético/métodos , Aconselhamento Genético/tendências , Humanos , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/tendências
4.
J Am Assoc Nurse Pract ; 32(3): 190-192, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32132456

RESUMO

Many rural residents do not receive genetic counseling or testing when needed because of health care access barriers, such as lack of providers in rural areas and the requirement for rural residents to travel to larger cities for these services. Telehealth technology can reduce these barriers by allowing rural residents to receive genetic counseling through a two-way interactive audio/video secure connection in a local clinic setting or in their homes. Telegenetics is a satisfactory solution for both patient and provider and provides benefits for rural patients despite ethical, legal, and reimbursement considerations.


Assuntos
Aconselhamento Genético/métodos , Acesso aos Serviços de Saúde/normas , População Rural/tendências , Telemedicina/instrumentação , Aconselhamento Genético/tendências , Acesso aos Serviços de Saúde/tendências , Humanos , Telemedicina/métodos , Telemedicina/tendências
5.
Skin Therapy Lett ; 25(1): 5-7, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32023022

RESUMO

The ichthyoses, also termed the disorders of keratinization, are a heterogenous group of skin diseases in which a distinctive horny layer arises secondary to excessive transepidermal water loss. Although occasionally acquired, the majority of ichthyoses are inherited and can be pinpointed to characteristic genetic mutations. Management depends on disease severity and includes topical agents and lifestyle modifications with or without oral retinoids. Genetic counseling is also an important consideration. This review aims to highlight advances in our understanding of disease pathogenesis as well as the holistic approach necessary to adequately manage ichthyosis patients.


Assuntos
Fármacos Dermatológicos/administração & dosagem , Ictiose/terapia , Estilo de Vida , Aconselhamento Genético/métodos , Humanos , Ictiose/genética , Ictiose/fisiopatologia , Mutação , Retinoides/administração & dosagem , Índice de Gravidade de Doença
6.
Hum Reprod Update ; 26(3): 335-355, 2020 04 15.
Artigo em Inglês | MEDLINE | ID: mdl-32099997

RESUMO

BACKGROUND: Through carrier screening, prospective parents can acquire information about whether they have an increased risk of conceiving a child affected with an autosomal recessive or X-linked condition. Within the last decade, advances in genomic technologies have facilitated a shift from condition-directed carrier screening to expanded carrier screening (ECS). Following the introduction of ECS, several studies have been performed to gauge the interest in this new technology among individuals and couples in the general population. OBJECTIVE AND RATIONALE: The aim of this systematic review was to synthesize evidence from empirical studies that assess the interest in ECS among individuals and couples in the general population. As the availability and accessibility of ECS grow, more couples who are a priori not at risk based on their personal or family history will be presented with the choice to accept or decline such an offer. Their attitudes and beliefs, as well as the perceived usefulness of this screening modality, will likely determine whether ECS is to become a widespread reproductive genetic test. SEARCH METHODS: Four databases (Pubmed, Web of Science, CINAHL, Cochrane Library) were systematically searched to identify English language studies performed between January 2009 and January 2019 using the following search terms: carrier screening, carrier testing, attitudes, intention, interest, views, opinions, perspectives and uptake. Studies were eligible for inclusion if they reported on intentions to undergo a (hypothetical) ECS test, uptake of an actual ECS offer or both. Two researchers performed a multistep selection process independently for validation purposes. OUTCOMES: Twelve empirical studies performed between 2015 and 2019 were included for analysis. The studies originated from the USA (n = 6), the Netherlands (n = 3), Belgium (n = 1), Sweden (n = 1) and Australia (n = 1). The sample size of the studies varied from 80 to 1669. In the included studies, 32%-76% of respondents were interested in a (hypothetical) ECS test, while uptake rates for actual ECS offers ranged from 8% to 50%. The highest overall uptake was observed when ECS was offered to pregnant women (50%). By contrast, studies focusing on the preconception population reported lower overall uptake rates (8-34%) with the exception of one study where women were counseled preconception in preparation for IVF (68.7%). WIDER IMPLICATIONS: Our findings suggest that there may be discrepancies between prospective parents' reported intentions to undergo ECS and their actual uptake, particularly during the preconception period. As ECS is a new and relatively unknown test for most future parents, the awareness and comprehension within the general population could be rather limited. Adequate pre- and post-test counseling services should be made available to couples offered ECS to ensure informed reproductive decision-making, together with guidelines for primary health care professionals. Due to restricted nature of the samples and methods of the underlying primary studies, some of the reported results might not be transferable to a broader population. More research is needed to see if the observed trends also apply to a broader and more diverse population.


Assuntos
Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/métodos , Doenças Genéticas Inatas/diagnóstico , Feminino , Doenças Genéticas Inatas/genética , Humanos , Países Baixos , Pais , Gravidez , Estudos Prospectivos , Reprodução
7.
Support Care Cancer ; 28(10): 4833-4845, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31982959

RESUMO

OBJECTIVE: Adolescent and young adult (AYA) cancer patients have distinct medical and psychosocial needs and fertility is a key concern. Early age of onset is a risk factor for hereditary cancer and AYAs are more likely to experience reduced fertility. This has implications for future family building decisions and fertility preservation (FP) and genetic testing/counseling (GT/GC) education. METHODS: Patients diagnosed with cancer between the ages of 18 and 39 and health care providers (HCPs) who treat AYA cancer patients were recruited from a single institution. Qualitative interviews explored AYA patients' and HCPs' concerns regarding their experiences discussing genetics and FP. RESULTS: The majority of patients (n = 17) were female (59%), and the majority of HCPs (n = 18) were male (67%). Overall, participants had differing perceptions of FP and GT/GC-related information provided during the clinical visit. Patients indicated initiating the conversation about FP and did not recall HCPs discussing GT/GC with them. HCPs indicated patients were often overwhelmed with too much information and comprehension of this discussion is limited. HCPs also felt patients' emotions/beliefs determined their information-seeking behavior specific to FP and GT/GC. Participants felt educational materials should be developed and delivered in a video format depicting a patient-provider interaction or patient testimonial. CONCLUSION: AYA patients are often overwhelmed by a cancer diagnosis; the complexity/volume of information regarding FP and GT/GC may hinder understanding and decision-making about family building. Educational materials that help patients understand what questions to ask HCPs about FP and GT/GC should be developed to improve knowledge, psychosocial well-being, and future family building decisions.


Assuntos
Preservação da Fertilidade/psicologia , Aconselhamento Genético/psicologia , Pessoal de Saúde/psicologia , Neoplasias/genética , Neoplasias/psicologia , Adolescente , Adulto , Fatores Etários , Comunicação , Compreensão , Aconselhamento , Tomada de Decisões , Feminino , Preservação da Fertilidade/métodos , Aconselhamento Genético/métodos , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Neoplasias/terapia , Adulto Jovem
8.
Genet Med ; 22(1): 26-34, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31371819

RESUMO

PURPOSE: This study investigated whether genetic counseling and test reporting for the highly penetrant CDKN2A melanoma predisposition gene promoted decreases in sun exposure. METHODS: A prospective, nonequivalent control group design compared unaffected participants (N = 128, Mage = 35.24, 52% men) from (1) families known to carry a CDKN2A pathogenic variant, who received counseling about management recommendations and a positive or negative genetic test result and (2) no-test control families known not to carry a CDKN2A pathogenic variant, who received equivalent counseling based on their comparable family history. Changes in daily ultraviolet radiation (UVR) exposure (J/m2), skin pigmentation (melanin index), and sunburns between baseline and one year following counseling were compared among carriers (n = 32), noncarriers (n = 46), and no-test control participants (n = 50). RESULTS: Both carriers and no-test control participants exhibited a decrease one year later in daily UVR dose (B = -0.52, -0.33, p < 0.01). Only carriers exhibited a significant decrease in skin pigmentation at the wrist one year later (B = -0.11, p < 0.001), and both carriers and no-test control participants reported fewer sunburns than noncarriers (p < 0.05). Facial pigmentation did not change for any group. Noncarriers did not change on any measure of UVR exposure. CONCLUSIONS: These findings support the clinical utility of disclosing CDKN2A test results and providing risk management education to high-risk individuals.


Assuntos
Inibidor p16 de Quinase Dependente de Ciclina/genética , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Melaninas/metabolismo , Queimadura Solar/epidemiologia , Adolescente , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Estudos Prospectivos , Exposição à Radiação/estatística & dados numéricos , Queimadura Solar/metabolismo , Luz Solar/efeitos adversos , Adulto Jovem
9.
Acta Oncol ; 59(1): 60-65, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31379231

RESUMO

Background: Preoperative genetic testing affects the surgical decision-making among women with breast cancer. To avoid breast-conserving surgery and to offer the possibility of mastectomy with immediate reconstruction in high-risk patients, genetic testing for pathogenic variants in BRCA1 or BRCA2 and a pedigree-based familial breast cancer risk assessment was offered to younger women with breast cancer in Denmark. We evaluated the impact of the risk stratification through genetic counseling on the uptake of contralateral prophylactic mastectomy (CPM).Material and methods: The prospective cohort study included all women with unilateral breast cancer before the age of 45 who participated in a genetic counseling program during their primary diagnostics in the Central Denmark Region (2013-2018). Each patient was followed from the time of the genetic test result to the end of follow-up to estimate the long-term uptake of CPM as a competing risk-adjusted cumulative incidence. We compared the uptake of CPM between the various genetic risk categories, ages of onset, and family histories in a multivariable Cox proportional hazards regression model, reporting hazard ratios (HR) with two-sided 95% confidence intervals (CIs).Results: 156 females, aged 21-44, learned their genetic test result within a median of 92 days [interquartile range (IQR): 75-114]. The maximal follow-up was 3.8 years (median 1.8; IQR: 0.49-2.5), after which 33% (95% CI: 24-42%) of the patients had undergone CPM. The uptake of CPM was inversely associated with the age of onset (HR 0.92; 95% CI: 0.86-0.98) and significantly higher among BRCA carriers (HR 2.9; 95% CI: 1.3-6.8) and patients from the high risk of breast cancer families (HR 5.6; 95% CI: 1.9-16) compared to the lower genetic risk categories.Conclusion: The risk stratification obtained through genetic counseling had a considerable impact on the surgical decision-making among younger women with breast cancer at long-term follow-up.


Assuntos
Proteína BRCA1/genética , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/psicologia , Neoplasias da Mama/cirurgia , Aconselhamento Genético/métodos , Mutação , Mastectomia Profilática/psicologia , Adulto , Neoplasias da Mama/genética , Tomada de Decisões , Feminino , Aconselhamento Genético/psicologia , Humanos , Aceitação pelo Paciente de Cuidados de Saúde/psicologia , Estudos Prospectivos , Adulto Jovem
10.
Eur J Med Genet ; 63(4): 103770, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31536829

RESUMO

High-throughput sequencing technologies performed in the clinical setting have the potential to reveal diverse genetic information. Whether it is initially targeted or unsolicited, strictly medical or not, or even information on a carrier status as part of preconception screening, access to genetic information needs to be managed. The aim of the current study was to gather potential attitudes of various stakeholders towards the sharing of genetic information from next-generation sequencing, and more specifically towards incidental findings, predictive findings, non-medical information and carrier status. Answers from a total number of 1631 individuals belonging to four different groups (45 molecular geneticists, 65 genetic counselors, 56 medical advisors to the state insurance plan, and 1465 university students) were collected through online questionnaires. Overall, the study reflects preferences towards the return of health risks related to serious diseases when effective treatment is available and information on reproductive risks. The importance of the perceived medical utility, both for disease prevention and treatment, was the main distinguishing feature. Attitudes from genetic health professionals were found more reluctant to receive a wide range of information. Hands-on experience with the practice of genetic testing is likely to influence perception of the utility of the genetic information that should be delivered. At the same time, perceptions of preconception genetic carrier screening brought out less differences between participants. Better understanding of the underlying interest in genomic information and thorough education on its value and usage are key elements to the adoption of future guidelines and policy that respect bioethical principles.


Assuntos
Pessoal de Saúde/psicologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Achados Incidentais , Disseminação de Informação/ética , Erros Inatos do Metabolismo/diagnóstico , Pesquisadores/psicologia , Estudantes/psicologia , Adolescente , Adulto , Idoso , Atitude , Feminino , França/epidemiologia , Triagem de Portadores Genéticos , Aconselhamento Genético/métodos , Testes Genéticos , Genoma Humano , Humanos , Masculino , Erros Inatos do Metabolismo/epidemiologia , Erros Inatos do Metabolismo/genética , Erros Inatos do Metabolismo/psicologia , Pessoa de Meia-Idade , Adulto Jovem
12.
Hum Genet ; 139(9): 1131-1139, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31679051

RESUMO

The primary goal of carrier screening is to identify asymptomatic individuals who carry variants associated with genetic diseases, to inform about the risk of having a child with a genetic disease. Carrier screening can be accomplished through different approaches including ethnicity-based screening, pan-ethnic screening, and expanded carrier screening (ECS), and the decision to pursue carrier screening is voluntary. ECS takes a broad approach by screening for a large number of genetic diseases irrespective of ethnic background, and ideally is performed prior to conception. ECS has many benefits, including that it does not depend on accuracy of reported ancestry, as well as its greater yield of information that can be used for reproductive decision-making. However, there are also many important limitations of ECS to consider, ranging from the yield of unexpected information, uncertainty about the phenotype of a particular disease for which an individual is a carrier, and greater downstream costs associated with further testing and genetic counseling. Detailed genetic counseling both prior to and after ECS is essential in order for patients to understand the breadth of this approach, potential and actual results, and limitations.


Assuntos
Triagem de Portadores Genéticos/métodos , Aconselhamento Genético/métodos , Doenças Genéticas Inatas/diagnóstico , Grupos Étnicos/genética , Feminino , Doenças Genéticas Inatas/genética , Humanos , Gravidez
13.
Cancer Res ; 80(2): 347-353, 2020 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-31719099

RESUMO

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant disorder associated with TP53 germline mutations and an increased lifetime risk of multiple primary cancers (MPC). Penetrance estimation of time to first and second primary cancer within LFS remains challenging because of limited data and the difficulty of characterizing the effects of a primary cancer on the penetrance of a second primary cancer. Using a recurrent events survival modeling approach that incorporates a family-wise likelihood to efficiently integrate the pedigree structure, we estimated the penetrance for both first and second primary cancer diagnosis from a pediatric sarcoma cohort at MD Anderson Cancer Center [MDACC, Houston, TX; number of families = 189; single primary cancer (SPC) = 771; and MPC = 87]. Validation of the risk prediction performance was performed using an independent MDACC clinical cohort of TP53 tested individuals (SPC = 102 and MPC = 58). These findings showed that an individual diagnosed at a later age was more likely to be diagnosed with a second primary cancer. In addition, TP53 mutation carriers had a HR of 1.65 (95% confidence interval, 1.1-2.5) for developing a second primary cancer versus SPC. The area under the ROC (AUC) curve for predicting individual outcomes of MPC versus SPC was 0.77. In summary, we provide the first set of penetrance estimates for first and second primary cancer for TP53 germline mutation carriers and demonstrate its accuracy for cancer risk assessment. SIGNIFICANCE: These findings present an open-source R package LFSPRO that could be used for genetic counseling and health management of individuals with LFS as it estimates the risk of both first and second primary cancer diagnosis.See related article by Shin et al., p. 354.


Assuntos
Predisposição Genética para Doença , Síndrome de Li-Fraumeni/genética , Modelos Genéticos , Segunda Neoplasia Primária/genética , Penetrância , Adolescente , Adulto , Criança , Pré-Escolar , Biologia Computacional , Conjuntos de Dados como Assunto , Feminino , Seguimentos , Aconselhamento Genético/métodos , Mutação em Linhagem Germinativa , Heterozigoto , Humanos , Lactente , Recém-Nascido , Síndrome de Li-Fraumeni/diagnóstico , Masculino , Pessoa de Meia-Idade , Taxa de Mutação , Segunda Neoplasia Primária/diagnóstico , Segunda Neoplasia Primária/epidemiologia , Valor Preditivo dos Testes , Medição de Risco/métodos , Software , Fatores de Tempo , Proteína Supressora de Tumor p53/genética , Adulto Jovem
14.
Rev. bras. cancerol ; 66(1)20200129.
Artigo em Português | LILACS | ID: biblio-1095276

RESUMO

Introdução: O desenvolvimento da medicina com a descoberta do genoma humano revolucionou o conhecimento, o acompanhamento e o tratamento do câncer, proporcionando a utilização de novos métodos de diagnóstico e tratamento para diversos tipos de neoplasias e permitindo o aconselhamento genético. O aconselhamento genético, embora de difícil acesso, pode vir a permitir aos pacientes com suspeita de câncer hereditário a diminuição dos índices de morbidade e mortalidade por essa doença e proporcionar uma melhora na qualidade de vida dos pacientes. Objetivo: Demonstrar o estado da arte do aconselhamento genético em oncologia, utilizando a ferramenta digital da telemedicina. Método: Foi realizada uma revisão integrativa de literatura, entre dezembro de 2018 e março de 2019, a partir das bases de dados PubMed, SciELO e BIREME, por meio das palavras cadastradas no MeSH e nos Descritores em Ciências da Saúde (DeCS), respectivamente, em inglês, Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Resultados: Foram encontrados 16 artigos; destes, oito foram excluídos. Restaram sete artigos que atendiam aos critérios de inclusão, demonstrando dados sobre a satisfação do paciente para com os serviços de aconselhamento genético voltados para o câncer, assim como suas vantagens e desvantagens. Conclusão: Embora ainda haja poucos estudos relatando experiências da prática do aconselhamento genético em oncologia, essa prática tem se demonstrado eficiente, de baixo custo e de boa aceitação do paciente e do profissional, suprindo necessidades principalmente nos locais de difícil acesso.


Introduction: The development of medicine and the discovery of the human genome revolutionized the knowledge, monitoring and treatment of cancer that favored the utilization of new methods of diagnosis, treatment for several types of neoplasms and genetic counseling. Although difficult to access, genetic counseling may allow the patients with suspected hereditary cancer, to reduce the rates of morbidity and mortality by this disease and ensure improvement in their quality of life. Objective: Demonstrate the state of the art of genetic counseling in oncology using the digital telemedicine tool. Method: An integrative literature review conducted between December 2018 and March 2019, using the PubMed, SciELO and BIREME databases, utilizing the words registered in the MeSH and Health Sciences Descriptors (DeCS), respectively, in English, Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Results: 16 articles were found and of these, eight were excluded. Thus, seven articles that met the inclusion criteria showing data about patient satisfaction with cancer-oriented counseling services, its advantages and disadvantages remained. Conclusion: Although there are few studies addressing the experience of genetic counseling in oncology, this low cost practice has been shown to be efficient and well accepted by the patient and the professional, providing proper responses mainly in places of difficult access.


Introducción: El desarrollo de la medicina con el descubrimiento del genoma humano revolucionó el conocimiento, seguimiento y terapia del cáncer, permitiendo la utilización de nuevas técnicas de diagnóstico y terapias para diferentes tipos de neoplasias, además del asesoramiento genético. El asesoramiento genético, aunque de acceso difícil, puede permitir a los pacientes con sospechas de cáncer hereditario la disminución de los índices de morbilidad y mortalidad para esa enfermedad y proporcionar una mejora en su calidad de vida. Objetivo: Demostrar el estado del arte del asesoramiento genético en oncología utilizando la herramienta digital de la telemedicina. Método: Se realizó una revisión integrativa de literatura entre diciembre de 2018 y marzo de 2019, a partir de las bases de datos PubMed, SciELO y BIREME, por medio de las palabras catastradas en el MeSH y en el Descriptores de Ciencia de la Salud (DeCS), respectivamente, en inglés Genetic Counseling AND Telemedicine OR eHealth AND Oncology. Resultados: Se han encontrado 16 artículos; de estos, 8 fueron excluidos. Así, quedaron siete artículos que atendían a los criterios de inclusión demostrando datos sobre la satisfacción del paciente hacia con los servicios de asesoramiento genético dirigidos al cáncer, así como sus ventajas y desventajas. Conclusión: Aunque todavía hay pocos estudios relatando experiencias de la práctica del asesoramiento genético en oncología, esta práctica se ha demostrado eficiente, de bajo costo y de buena aceptación del paciente y del profesional, supliendo necesidades principalmente en los lugares de difícil acceso.


Assuntos
Humanos , Masculino , Feminino , Telemedicina , Consulta Remota , Aconselhamento Genético/métodos , Neoplasias/genética , Serviços Preventivos de Saúde , Técnicas e Procedimentos Diagnósticos/tendências , Comunicação por Videoconferência , Aconselhamento à Distância
15.
Indian J Cancer ; 56(Supplement): S38-S47, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31793441

RESUMO

BReastCAncer (BRCA) susceptibility genes BRCA1 and BRCA2 are mainly associated with hereditary breast and ovarian cancer (HBOC) syndrome and present an estimated 45%-65% cumulative lifetime risk of developing breast cancer and an 11%-39% risk of ovarian cancer. HBOC is also linked to triple-negative breast cancer (TNBC). BRCA1 mutations in TNBC are observed in 36% of women age <40 years and 27% of women age <50 years. In India, the prevalence of BRCA1/2 mutation varies from 2.9% to 38% among families with genetic predisposition toward hereditary cancers. With HBOC being linked to early-onset breast cancer and increased susceptibility to other cancers, early screening for BRCA mutations has become a pressing need. Though genetic counseling (GC) for BRCA mutation testing is common in most of the developed countries, India still faces several challenges in mainstreaming the same. Many barriers to effective GC for BRCA testing are unique to India. There is a dearth of trained geneticists which puts the pressure on oncologists to give GC for which they neither have the time or training. Presence of multiethnic/linguistic population acts as a major hindrance along the way toward development of robust predictive and effective GC models for BRCA testing. The current review discusses the need and benefits of GC in breast cancer prevention, through BRCA testing, from an Indian perspective. The functional framework of GC and the role of genetic counselors are discussed in detail. In addition, importance of GC training and role of a multidisciplinary team approach for mainstreaming pre- and post-BRCA test GC is highlighted.


Assuntos
Proteína BRCA2/genética , Aconselhamento Genético/métodos , Feminino , Humanos , Índia , Masculino , Pessoa de Meia-Idade
16.
J Natl Compr Canc Netw ; 17(11): 1272-1276, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31693985

RESUMO

Families with hereditary risk for developing malignancy benefit from organized, coordinated care by a genetics professional. This report presents a case illustrating the potential errors that can occur when genetic care is fragmented and not coordinated, including ordering too much or not enough genetic testing, failing to communicate with the family who is at potential genetic risk, failing to communicate what the results of testing mean, and failing to recommend appropriate care, which may lead to psychosocial distress and late-detected cancers. This case highlights the complexities of genetic care and why management by a genetics professional results in more fiscally responsible care, appropriate genetic testing, and comprehensive care for all family members at risk.


Assuntos
Aconselhamento Genético/métodos , Predisposição Genética para Doença/prevenção & controle , Assistência ao Paciente/métodos , Idoso , Humanos , Masculino
17.
Tunis Med ; 97(3): 426-431, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31729716

RESUMO

BACKGROUND: Performing genetic counseling is one of the tasks of every paediatrician. This assumes prior training during the residency. AIM: To assess the impact of role-play (RP) for training of paediatric residents in genetic counseling and participants' perception. METHODS: Repetitive cross-sectional evaluation study. During two RP sessions, two residents played the role of the parents of a patient with cystic fibrosis, and another the role of the doctor. Residents had an evaluation by standardized patient exercises immediately before and after the session. Test scores were compared by the Wilcoxon rank test for associated samples. A satisfaction questionnaire was completed by the participants anonymously. RESULTS: Post-test scores were better than pre-test scores overall (p = 0.002) and for items in the cognitive domain (p = 0.002). Of the 12 participants, only one had had previous training in genetic counseling. All participants were satisfied with the learning and felt that it would change the way they practice. All participants thought they could do genetic counseling autonomously, but nine of them wanted to have other RP sessions on the same theme. Only one participant found the session stressful and all wanted to multiply this type of sessions for other learning. CONCLUSION: RP is an effective and well-accepted means for genetic counseling training. It should be integrated with paediatric resident training.


Assuntos
Aconselhamento Genético , Internato e Residência/métodos , Pediatria/educação , Desempenho de Papéis , Estudantes/psicologia , Adulto , Competência Clínica , Comunicação , Estudos Transversais , Avaliação Educacional , Feminino , Aconselhamento Genético/métodos , Aconselhamento Genético/organização & administração , Aconselhamento Genético/psicologia , Humanos , Aprendizagem , Masculino , Simulação de Paciente , Pediatria/métodos , Pediatria/organização & administração , Percepção , Relações Médico-Paciente , Avaliação de Programas e Projetos de Saúde , Inquéritos e Questionários , Tunísia , Adulto Jovem
18.
Handb Clin Neurol ; 165: 191-205, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31727212

RESUMO

Wilson disease (WD) is a hereditary metabolic disorder (HMD) caused by a mutation in the copper-transporting gene ATP7B affecting the liver and central nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and management can be difficult. More generally, HMDs are a rare but important cause of psychiatric disorders in adolescents and adults. Main signs of HMDs may remain isolated for years before the appearance of hepatic or neurologic signs. The incidence of HMDs has been estimated at approximately 40 cases per 100,000 live births. Some of them are treatable and new diagnostic methods and therapies have become available. HMDs that present purely with psychiatric symptoms are very difficult to diagnose due to low awareness of these rare diseases among psychiatrists and neurologists. However, it is important to identify HMDs in order to provide disease-specific treatment and possible prevention of irreversible physical and neurologic complications. Genetic counseling can also be provided. Psychotropic medications should be prescribed carefully in that indication. This chapter focuses on three HMD categories: chronic, treatable HMDs (e.g., WD); acute, treatable HMDs; and chronic HMDs that are difficult to treat. In this review we focus on the psychopharmacology of WD and other chronic and difficult-to-treat HMDs. We provide some keys to take into account the main side effects associated with common psychotropic medications.


Assuntos
Degeneração Hepatolenticular/metabolismo , Degeneração Hepatolenticular/terapia , Doenças Metabólicas/metabolismo , Doenças Metabólicas/terapia , Psicotrópicos/uso terapêutico , Aconselhamento Genético/métodos , Degeneração Hepatolenticular/diagnóstico , Humanos , Doenças Metabólicas/diagnóstico , Psicofarmacologia
19.
Taiwan J Obstet Gynecol ; 58(6): 855-858, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31759542

RESUMO

OBJECTIVE: We present prenatal diagnosis of mosaic isochromosome 20q [i(20q)] at amniocentesis, and we review the literature. CASE REPORT: A 36-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY,i(20)(q10)[27]/46,XY[29]. Prenatal ultrasound findings were unremarkable. The parental karyotypes were normal. Repeat amniocentesis was performed at 20 weeks of gestation. During repeat amniocentesis, array comparative genomic hybridization (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction (QF-PCR) assay were performed on uncultured amniocytes, and conventional cytogenetic analysis, interphase FISH and aCGH were performed on cultured amniocytes. In the repeat amniocentesis, the cultured amniocytes revealed a karyotype of 46,XY. Interphase FISH analysis showed the i(20q) signal in 5.2% (5/96) of the uncultured amniocytes compared with 2% in the control, and in 0.98% (1/102) of the cultured amniocytes compared with 2% in the control. aCGH detected no genomic imbalance in both uncultured and cultured amniocytes. QF-PCR analysis excluded uniparental disomy 20. At 38 weeks of gestation, a healthy 2870-g male baby was delivered with no phenotypic abnormality. The postnatal blood karyotype was 46,XY. FISH analysis on urinary cells showed 2.1% (2/95 cells) mosaicism compared with 1.9% (2/105 cells) in the control. CONCLUSION: Mosaic i(20q) at amniocentesis is a benign condition associated with a favorable outcome in most cases and can be a cell culture artifact confined to cultured amniocytes. Molecular cytogenetic analysis using uncultured amniocytes is useful for rapid confirmation. Prenatal diagnosis of very high percentage of mosaicism for i(20q) at amniocentesis should alert the presence of fetal structural abnormalities. Prenatal diagnosis of mosaic i(20q) at amniocentesis should include a detail examination of fetal brain and spine.


Assuntos
Amniocentese/métodos , Cromossomos Humanos Par 20/genética , Aconselhamento Genético/métodos , Isocromossomos/genética , Mosaicismo , Diagnóstico Pré-Natal/métodos , Dissomia Uniparental/diagnóstico , Adulto , Hibridização Genômica Comparativa , Feminino , Humanos , Hibridização in Situ Fluorescente/métodos , Cariotipagem , Gravidez , Dissomia Uniparental/genética
20.
Can J Urol ; 26(5 Suppl 2): 42-43, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31629429

RESUMO

The demand for genetic counseling services and the need for alternate service delivery models to meet this demand in cancer care is continually growing. Models exist, however, there is little evidence on which models work best for which individuals or healthcare systems. Implementation science offers the tools to address this gap and evaluate such models in context for broader impact to integrate these models into cancer care delivery.


Assuntos
Aconselhamento Genético/métodos , Neoplasias , Humanos , Modelos Teóricos , Neoplasias/genética
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