In recent years, with the development of DNA tests and genetic knowledge, there has been a growth of genetic counseling services and research in Canada and Japan. Although the uniqueness of genetic services in medicine lies in the preliminary assessment of the entire family rather than a single patient, few attempts have been made by social scientists to examine the technical and social construction of family trees and medical pedigrees. The purpose of this thesis is to analyze how the family data taken by genetic counselors are transcribed as medical pedigrees and used by associated health care workers in different cultural settings. The comparative analysis was based on an ethnographic approach that included participant-observation in genetic counseling sessions, interviews with clinical workers, and content-analysis of medical textbooks. The findings include three major points: (1) cultural views of the family are taken for granted by genetic counselors; (2) the process of documenting family data consists of four stages: primary transcription, secondary transcriptions, combination and publications; (3) the clinical workers' use of medical pedigrees results in the construction of family history as part of the present family illness.

Thesis (M.S.)--Brandeis University, 2009. / Title from PDF title page (viewed on May 29, 2009). Includes bibliographical references.

Thesis (M.S.)--Brandeis University, 2009. / Title from PDF title page (viewed on August 9, 2009). Includes bibliographical references.

Thesis (M.A.)--Trinity Evangelical Divinity School, 1994. / Abstract. Includes bibliographical references (leaves 42-49).

Made available in DSpace on 2014-08-06T17:29:38Z (GMT). No. of bitstreams: 2 Aline Costa.pdf: 2324687 bytes, checksum: 04115292021785e54c4bf64f9a7bc8fd (MD5) license.txt: 1914 bytes, checksum: 7d48279ffeed55da8dfe2f8e81f3b81f (MD5) Previous issue date: 2010 / Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil. / O objetivo desse trabalho foi discutir o aconselhamento genético (AG) como prática clínica, focalizando a anencefalia que é um defeito de fechamento de tubo neural (DFTN) aberto, acometendo 1:1000 nascimentos, e sua associação com outras malformações maiores. Para tanto foi empreendido o levantamento de laudos de necropsias realizadas no Departamento de Anatomia Patológica do Instituto Fernandes Figueira/FIOCRUZ, entre 2000 e 2008, e dos respectivos prontuários das gestantes dos quais constava o resultado dos achados da ultrasonografia gestacional (USG). A análise dos dados foi feita utilizando o Epi-Info/ANOVA. Os resultados apontaram: a) 74 necropsias realizadas no período, das quais 56,7% indicaram anencefalia isola, 14,9% mostraram outro DFTN e 28,4% associada com outras malformações; b) as malformações mais frequentemente associadas com a anencefalia foram: raquisquise, fenda labial ou e palatina, onfalocele, hérnia diafragmática e baço acessório; c) o diagnóstico da USG mostrou anencefalia isolada em 87,4% dos casos; associada com outro DFNT em 2,8% e múltiplas malformações em 9,8%, das quais as mais frequentes foram: raquisquise, onfalocele, defeito de parede tóraco-abdominal com ectopia cordis; d) a maioria das gestantes tinha segundo grau completo, eram primigestas, com história familiar de DFTN em 9,4% dos casos, sendo que em 6,7% deles houve exposição a teratogênos e 20% tiveram complicações gestacionais, sendo a polidraminia a mais frequente; e) em nenhum dos casos achou-se referência ao uso de ácido fólico pré e periconcepcional; f) após a confirmação diagnóstica, 49,3% gestantes decidiram pela interrupção judicial da gravidez e 50,7% evoluiram para o parto (36% natimortos e 64% nativivos) e, por fim, g) 42% das gestantes realizou consulta no ambulatório de AG pósnatal, depois do desfecho da gestação. Concluiu-se que diante do diagnóstico de anomalia tão grave e incompatível com a vida extra-uterina, as demais malformações perdem significado no momento da USG, o tem repercussões para o direcionamento do AG relacionado às opções reprodutivas futuras. Por outro lado reiterou-se a importância da suplementação oral de ácido fólico no período pré e periconcepcional como medida de prevenção primária e de promoção da saúde. / The aim of this investigation was to discuss genetic counseling as a clinical practice, focusing on anencephaly, which is an open neural tube defect that affects 1:1000 births, and its relation to other major malformations. For this purpose, we undertook a survey of autopsy reports, performed at the pathology department of Instituto Fernandes Figueira/FIOCRUZ between 2000-2008, and medical charts of the related mothers, where data on the obstetric ultrasound was registered. Data analysis was performed with Epi-Info/ANOVA. The results point to: a) 74 autopsies were executed during this period; 56,7% revealed isolated anencephaly, 14,9% were associated to other neural tube defects, and 28,4% were associated to other malformations; b) malformations most frequently associated were: rachischisis, cleft lip and/or palate, omphalocele, diaphragmatic hernia, and accessory spleen; c) obstetric ultrasound showed isolated anencephaly in 87,4% of the cases; association to other neural tube defects in 2,8%, and multiple malformations in 9,8%, the most frequent being rachischisis, omphalocele, thoraco-abdominal wall defect, and ectopia cordis; d) the majority of pregnant woman had completed high school and were pregnant for the first time; family history for neural tube defect was positive in 9,4% of the cases, of which 6,7% were associated to teratogen exposure, and 20% presented with pregnancy complications, mostly polyhydramnios; e) we found no record of folic acid use before or peri-conception; f) after diagnosis, 49,3% of pregnant women decided for pregnancy interruption, and 50,3% delivered their babies (36% stillbirths, 64% newborns), and g) genetic counseling was given to 42% of women. We come to the conclusion that facing such a serious, and deadly anomaly, all other malformations loose their value, what reflects upon genetic counseling and reproductive choices. Besides, we emphasize the need of folic acid use before and peri-conception as a primary prevention and health promotion measure.

Made available in DSpace on 2015-05-14T16:53:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2014-12-12Bitstream added on 2015-05-14T16:59:06Z : No. of bitstreams: 1 000827183.pdf: 711875 bytes, checksum: 144b7d1e43a7ce42d46cbed83d739a5d (MD5) / A síndrome de Williams-Beuren (SWB) é uma rara afecção genética, caracterizada por varias anormalidades físicas, incluindo dismorfismos faciais, anomalias cardiovasculares, deficiência intelectual e de crescimento, perfil cognitivo característico e ocasionalmente, hipercalcemia infantil transitória, com prevalência de 1/7500. A etiologia da SWB é uma deleção hemizigótica de genes contíguos na região cromossômica 7q11.23. Os tamanhos das deleções mais comum são de 1,5 e 1,8 Mb e abrangem 28 genes. O mecanismo de deleção esta diretamente ligado a regiões cromossômicas repetitivas, denominadas Low Copy Repeats (LCR). Estas regiões repetitivas estão distribuídas por todo genoma, constituindo cerca de 5% de seu total e são o substrato para as recombinações cromossômicas (crossing-over) durante o processo meiótico. Em algumas ocasiões o processo de recombinação pode ocorrer de maneira desigual entre homólogos não alélicos (nonallelic homologous recombination – NAHR), o que pode resultar na deleção, duplicação ou inversão de um gene ou mais genes. Inversões balanceadas podem acarretar em um polimorfismo hemizigótico, tendo sido verificado que a região critica para SWB esta invertida (SWBinv-1) com maior frequência entre genitores de indivíduos com SWB. Dados da literatura sugerem que indivíduos portadores da inversão SWBinv-1 tem uma probabilidade de 22-25% de terem um filho com SWB, comparado com a população geral (5,8%). Nós desenvolvi mos uma estratégia para triagem de possíveis portadores de SWBinv-1, dentre os genitores de indivíduos com SWB, para podermos verificar a frequência desta inversão tanto em pais de crianças com SWB como entre pais de crianças sem SWB no Brasil. Desta forma foram realizadas analises de núcleos interfásicos em esfregaço de sangue pela técnica de hibridação”in situ” por fluorescência (FISH) e comparamos com ... / The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic cognitive profile and occasionally transient infantile hypercalcemia, with a prevalence of 1/7500 . The etiology of SWB is a hemizygous deletion of contiguous genes at chromosome region 7q11.23. The most common sizes of deletions are 1.5 and 1.8 Mb and encompass 28 genes. The mechanism of deletion is directly linked to repetitive chromosomal regions, called Low Copy Repeats (LCR). These repetitive regions are distributed throughout the genome, constituting about 5% of its total and are the substrate for chromosomal recombination (crossing-over) during the meiotic process. In some instances the process of recombination can occur unevenly among homologous non-allelic (homologous recombination nonallelic - NAHR), which can result in deletion, duplication or inversion of a gene or more genes. Balanced inversions can result in a hemizygous polymorphism has been found that the critical region for this inverted SWB (SWBinv-1) with greater frequency among parents of individuals with WBS. Published data suggest that individuals inversion SWBinv-1 has a 22-25% chance of having a child with SWB, compared with the general population (5.8%). We we developed a strategy for screening potential carriers SWBinv-1, among the parents of individuals with WBS, so we can check the frequency of this inversion in both parents of children with SWB as between parents of children without SWB in Brazil. Thus analyzes of interphase nuclei were performed on blood smear by technique hybridization in situ by fluorescence (FISH) analysis and compared to metaphase and interphase lymphocyte culture. Were part of the sample group and 38 couples in the control group 20 couples. Of the 38 couples in the sample group ...

Down syndrome, or Trisomy 21, is the most commonly occurring genetic condition, and yet there exists a great deal of misinformation and misconception about the lived experience and value of Down syndrome in society. Its construction as a disability is deeply intertwined with racist rhetoric and, despite changes in language, this construction of Down syndrome as a racialized disability category has immense implications in clinical and prenatal genetic counseling settings. This thesis seeks to examine the past and present of Down syndrome in conversation with reproductive justice, disability justice, and the current norms of practice in genetic counseling. In doing so, this thesis makes recommendations towards a disability-centered and actively counter-eugenic genetic counseling practice.

abstract: ABSTRACT Whole genome sequencing (WGS) and whole exome sequencing (WES) are two comprehensive genomic tests which use next-generation sequencing technology to sequence most of the 3.2 billion base pairs in a human genome (WGS) or many of the estimated 22,000 protein-coding genes in the genome (WES). The promises offered from WGS/WES are: to identify suspected yet unidentified genetic diseases, to characterize the genomic mutations in a tumor to identify targeted therapeutic agents and, to predict future diseases with the hope of promoting disease prevention strategies and/or offering early treatment. Promises notwithstanding, sequencing a human genome presents several interrelated challenges: how to adequately analyze, interpret, store, reanalyze and apply an unprecedented amount of genomic data (with uncertain clinical utility) to patient care? In addition, genomic data has the potential to become integral for improving the medical care of an individual and their family, years after a genome is sequenced. Current informed consent protocols do not adequately address the unique challenges and complexities inherent to the process of WGS/WES. This dissertation constructs a novel informed consent process for individuals considering WGS/WES, capable of fulfilling both legal and ethical requirements of medical consent while addressing the intricacies of WGS/WES, ultimately resulting in a more effective consenting experience. To better understand components of an effective consenting experience, the first part of this dissertation traces the historical origin of the informed consent process to identify the motivations, rationales and institutional commitments that sustain our current consenting protocols for genetic testing. After understanding the underlying commitments that shape our current informed consent protocols, I discuss the effectiveness of the informed consent process from an ethical and legal standpoint. I illustrate how WGS/WES introduces new complexities to the informed consent process and assess whether informed consent protocols proposed for WGS/WES address these complexities. The last section of this dissertation describes a novel informed consent process for WGS/WES, constructed from the original ethical intent of informed consent, analysis of existing informed consent protocols, and my own observations as a genetic counselor for what constitutes an effective consenting experience. / Dissertation/Thesis / Ph.D. Biology 2013

Profissionais de saúde, atuantes em serviços que oferecem aconselhamento genético (AG), carecem de instrumentos objetivos para avaliar os desfechos do AG e para \"dar voz\" aos usuários desses serviços. O desconhecimento desses desfechos pode impactar diretamente na efetividade e nos benefícios do aconselhamento, na qualidade de vida, na promoção da saúde e no empoderamento dos aconselhados. Tais instrumentos são escassos na maioria dos países e inexistentes no Brasil. Nesse contexto, o presente estudo teve como objetivo adaptar culturalmente e validar a Genetic Counseling Outcome Scale/GCOS-24, originalmente elaborada no idioma inglês britânico. Após aprovação pelo Comitê de Ética em Pesquisa das instituições participantes, conduzimos uma investigação metodológica, que incluiu 204 usuários (pacientes, acometidos ou em risco para doenças genéticas, ou um de seus familiares/cuidadores) do Serviço de Genética Médica de um hospital universitário do interior paulista, durante o período de outubro de 2014 a dezembro de 2015. O processo de adaptação e validação da GCOS-24 compreendeu as fases de tradução e retrotradução, comitê de especialistas, validação semântica, estudo piloto e estudo de campo, por meio de análise estatística apropriada. A validação semântica demonstrou que a GCOS-24 é composta por itens considerados relevantes para a condição de saúde dos participantes do estudo, os quais foram facilmente compreendidos pelos mesmos. A versão adaptada apresentou confiabilidade satisfatória (?Cronbach=0,71) e estabilidade moderada (ICC=0,52), mensuradas, respectivamente, pelo Coeficiente Alfa de Cronbach e Coeficiente de Correlação Intraclasse. O processo de adaptação e validação da GCOS-24 para brasileiros foi finalizado. O produto final deste trabalho, a EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), foi considerada válida e fidedigna à sua versão original, com potencial para mensurar os desfechos do aconselhamento genético, realizado em serviços de genética clínica / Health professionals working in services that offer genetic counseling (GC) lack objective instruments to measure the GC outcomes and to give voice to the users of these services. The unawareness of these outcomes can directly impact the effectiveness and benefits of counseling, life quality, health promotion and the empowerment of the patients. Such instruments are scarce in most countries and nonexistent in Brazil. In this context, this paper aimed to culturally adapt and validate the Genetic Counseling Outcome Scale /GCOS-24, originally made in British English. After the approval of the Research Ethics Committee of the participating institutions, we conducted a methodological investigation, which included 204 users (patients, affected or at risk for genetic diseases, or one of their relatives/caregivers) from the Medical Genetics Service of a university hospital in the countryside of the state of Sao Paulo, during the period from October 2014 to December 2015. The process of adaptation and validation of the GCOS-24 comprehended the phases of translation and back-translation, committee of experts, semantic validation, pilot test and field study, through appropriate statistical analysis. The semantic validation revealed that GCOS-24 consists of items that were considered relevant to the health condition of the study participants, which were easily understood by them. The adapted version presented satisfactory reliability (?Cronbach=0,71) and moderate stability (ICC=0,52), measured, respectively, by the Cronbach\'s Alpha Coefficient and Intraclass Correlation Coefficient. The adaptation and validation process of the GCOS-24 to Brazilians was finalized. The final product of this paper, the EDAG-24 (Escala de Desfechos do Aconselhamento Genético/EDAG-24), was considered valid and reliable to its original version, with potential to measure the genetic counseling outcomes conducted in Clinical Genetics Services

Submitted by Cláudia Bueno (claudiamoura18@gmail.com) on 2016-03-21T16:40:17Z No. of bitstreams: 2 Dissertação - Tatiana Dela-Sávia Ferreira - 2011.pdf: 1604849 bytes, checksum: 188c37b273a16998219f55f4f8eb12dd (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2016-03-22T13:56:37Z (GMT) No. of bitstreams: 2 Dissertação - Tatiana Dela-Sávia Ferreira - 2011.pdf: 1604849 bytes, checksum: 188c37b273a16998219f55f4f8eb12dd (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) / Made available in DSpace on 2016-03-22T13:56:37Z (GMT). No. of bitstreams: 2 Dissertação - Tatiana Dela-Sávia Ferreira - 2011.pdf: 1604849 bytes, checksum: 188c37b273a16998219f55f4f8eb12dd (MD5) license_rdf: 23148 bytes, checksum: 9da0b6dfac957114c6a7714714b86306 (MD5) Previous issue date: 2011-12-20 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / The hemoglobinopathies are considered a world-wide problem of public health and educative-preventive measures are essential for reduction of morbimortality. The genetic counseling and the familiar selection can assist patients and their relatives to understand the basic aspects of the illness, as well as taking conscientious decisions in relation to the productivity. The present study has as objective to evaluate the effectiveness of educativepreventive measures for carriers of hemoglobinopathies and people related to the disorder in Goiás. Primordially, it was verified, by means of systematic revision of literature, if the genetic counseling assistance was offered to the carriers of alterations of the hemoglobins as an educative and preventive measure. In concurrence with the revision, genetic orientation, a modality of genetic counseling, was applied to the 77 carriers of hemoglobinopathies of the Clinics Hospital of Goiás. The level of knowledge of the same ones was evaluated before and after the practice. Moreover, a total of 156 familiar ones of these patients received laboratorial diagnosis. In the systematic revision, in 314 found studies, only 7 (2.2%) had genetic counseling in character of assistance for individuals with alterations in the hemoglobins. In the perspective on the genetic orientation for carriers of hemoglobinopathies, the majority of the patients who had low level of knowledge before this educative process (68.8%) demonstrated high level of information assimilation after the procedure (81.8%). In addition, the familiar selection identified high amount of laboratorial alterations amongst the familiar ones (71.2%), and they had been, then, clarified on the results of the examinations. It was concluded that programs of education and prevention for hemoglobinopathies, as genetic counseling assistance and laboratorial selection, even so rare studied in scientific literature, is efficient, being able to improve the quality of life of the sick people and to direct transmitters of modified genes for services of clinical diagnosis and genetic counseling. / As hemoglobinopatias são consideradas um problema mundial de saúde pública e medidas educativo-preventivas são essenciais para redução da morbimortalidade. O aconselhamento genético e a triagem familiar podem auxiliar pacientes e familiares a compreenderem os aspectos fundamentais da doença, bem como a tomarem decisões conscientes em relação à reprodutividade. O presente estudo objetivou avaliar a eficácia de medidas educativopreventivas para portadores de hemoglobinopatias e pessoas relacionadas ao distúrbio. Primordialmente, verificou-se, por meio de revisão sistemática da literatura, se o aconselhamento genético assistencial foi ofertado aos portadores de alterações das hemoglobinas como medida educativa e preventiva. Em concomitância com a revisão, a orientação genética, uma modalidade de aconselhamento genético, foi aplicada a 77 portadores de hemoglobinopatias do Hospital das Clínicas de Goiás. O nível de conhecimento dos mesmos foi avaliado antes e depois da prática. Além disso, um total de 156 familiares destes pacientes recebeu diagnóstico laboratorial. Na revisão sistemática, dos 314 estudos encontrados, somente sete (2,2%) realizaram aconselhamento genético de caráter assistencial para indivíduos com alterações nas hemoglobinas. Quanto à orientação genética para portadores de hemoglobinopatias, a maioria dos pacientes que possuía baixo nível de conhecimento antes deste processo educativo (68,8%) demonstrou alto nível de assimilação de informações após o procedimento (81,8%). Em adição, a triagem familiar identificou quantidade elevada de alterações laboratoriais dentre os familiares (71,2%), e eles foram, então, esclarecidos sobre os resultados dos exames. Concluiu-se que programas de educação e prevenção para hemoglobinopatias, como aconselhamento genético assistencial e triagem laboratorial, embora raramente descritos na literatura científica, são eficazes, podendo melhorar a qualidade de vida dos doentes e encaminhar portadores de genes alterados para serviços de diagnóstico clínico e aconselhamento genético.