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Este artículo revisa los principales desafíos éticos que plantea la investigación vinculada al genoma humano a la luz de la bibliografía internacional y entrega recomendaciones sobre su abordaje basada en nuestra experiencia en el Comité de Ética para la Investigación en Seres Humanos de la Facultad de Medicina, Universidad de Chile, incluyendo las regulaciones legales nacionales. Los estándares éticos de la investigación en seres humanos deben extremarse para proteger adecuadamente a los participantes en estudios involucrados con la genómica. Especialmente relevantes en este contexto son: la protección de la confidencialidad y anonimato; la política de entrega de resultados y la posibilidad de retirarse del estudio. Compartir datos resultantes de investigaciones genéticas permite optimizar recursos, otorga mayor transparencia y replicabilidad de los análisis y permite descubrir alteraciones genéticas responsables de enfermedades raras y genes involucrados en enfermedades hereditarias multifactoriales, además de contribuir al diseño de medicina de precisión y de nuevas estrategias terapéuticas. Sin embargo, plantea grandes desafíos: proteger la privacidad y evitar la re-identificación de los voluntarios, la entrega de resultados con asesoría pre y post estudio. Estos aspectos requieren la elaboración de un cuidadoso proceso de consentimiento informado para investigaciones genómicas cuyos componentes principales se analizan en este artículo.
This article reviews the main ethical challenges posed by human genome research in the light of the international literature and provides recommendations on how to approach them based on our experience in the Ethics Committee for Research on Human Subjects of the Faculty of Medicine, University of Chile, including national legal regulations. Ethical standards in human research must be extreme, in order to adequately protect participants in studies involving genomics. Particularly relevant in this context are the protection of confidentiality and anonymity; the policy of delivery of results and the possibility of withdrawing from the study. Sharing data resulting from genetic research optimizes resources, provides greater transparency, and replicability of the analyses and makes it possible to discover genetic alterations responsible for rare diseases and genes involved in multi-factorial hereditary diseases, as well as contributing to the design of precision medicine and new therapeutic strategies. However, it poses great challenges: protecting privacy and avoiding re-identification of volunteers, delivery of results with pre- and post-study counseling. These aspects require the elaboration of a careful informed consent process for genomic research, the main components of which are discussed in this article.
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Purpose: To conduct a bibliometric analysis of research on genetic retinal diseases (GRD) done in India published from 2011 to 2020 in peer?reviewed journals, and assess the productivity, trends in journal choice, publication types, research funding, and collaborative research. Methods: We searched PubMed for articles indicating both vision?related content and author affiliation with an Indian research center. We identified research collaborations and classified articles as reporting basic science, clinical science, or clinically descriptive research. Impact factors were determined from Journal Citation Reports for 2015. Results: The total number of published articles that were retrieved from 2011 to 2021 was 341. During the 10 years of study, the annual output of research articles has nearly doubled, that is, from 21 in 2011 to 44 in 2021. A total of 298 (87%) articles were published in international journals, and 149 (42%) articles in vision?related journals had an impact factor. A total of 224 (65%) articles came from six major eye hospitals. Clinical science articles were most frequently (86%) published, whereas basic science was the least (14%). The diseases on which the maximum and the minimum number of articles were published were retinoblastoma (n = 82,24%) and Stargardt disease (n = 3, 0.9%), respectively. Conclusion: This bibliometric study provides a broad view of the current status and trends in the research on GRD done in India and may help clinicians, researchers, and policymakers to better understand this research field and predict its dynamic directions.
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The combination of vertigo, dizziness and balance disturbance with migraine is called vestibular migraine, which is frequently reported in clinical neurology. However, the exact pathophysiological mechanisms of vestibular migraine still remain unclear. Familial occurrence of VM has been reported, suggesting a genetic component. With the rapid development of molecular genetic technology in recent decades, the genetic research about vestibular migraine has become a hot topic. The outcomes of molecular genetic studies of vestibular migraine could benefit to unveil the mysterious causes of this disorder. The present review summarized the molecular genetic studies of vestibular migraine.
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Cerebral palsy ( CP) describes a group of disorders of the development of movement and posture, causing activity limitation attributed to disturbances, which occurred brain injury in the fetal or infant. Etiology, early diagnosis and treatment of cerebral palsy are always difficult issues and hot topic in re-search of neuroscience and clinical science. Many new advances have been shown in genetic research and early e-valuation methods of cerebral palsy, standardized general movements assessment and brain magnetic resonance imaging also can show early signs of cerebral palsy, in order to early intervention and treatment manage-ment. This review summarizes the advances in etiology, early diagnosis and treatment on cerebral palsy.
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Objective To make clear the relationship between the genetic polymorphism of MMP-1 and implant early failure.Methods We conducted a case control study,53 cases patients (no smoking history and without periodontitis) who have underwent dental implant were divided into experimental group(with dental implant failure) and control group(with dental implant success) according to early failure of dental implant (within one month).DNA of 53 patients in Han nationality were extracted by using Chelex-100 method and polymorphisms of the mmp-1-1607 gene were detected by restriction fragment length polymorphism after polymerase chain reactions.Results Patients with MMP-1-1607(1G/2G) genotype exhibited a significantly higher occurrence of implant early failure than those with MMP-1-1607(1G/1G) gene type(P＜0.05).The OR of the 1G/2G versus the 1G/1G of the MMP-1-1607 genotype was 13.894(P＜0.05).Conclusion MMP-1-1607(1G/2G) genotype is associated with implant early failure.
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Through the problem of gene-related clinical and scientific studies reviewed by the Institutional Review Board (IRB), Shanghai Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, this article discussed and summarized main points of clinical gene-related studies such as participants have indepen-dent rights, which were the choice of being told the research results and the donors of Biobank have rights for option in or out. The clinical gene-related studies should pay attention to the protection of genetic resources dur-ing the study, fairness of genetic research findings' usage. And on this basis, in order to facilitate the effective operation of the researchers, key elements of the gene-related research projects were developed in the design plan and informed consent. Finally, the importance and implementation of relevant standardization system construction were also emphasized .
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Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest (h2 = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups.
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Humans , Cues , Facial Bones , Factor Analysis, Statistical , Genetic Research , OrbitABSTRACT
Se describen los distintivos de los diseños de investigación epidemiológica que son utilizados con mayor frecuencia en los estudios de asociación genética. Los estudios de casos y controles proporcionan un método eficiente para evaluar asociaciones entre genes candidatos y enfermedad. Los estudios de cohorte, por su parte, si bien aportan un mayor grado de causalidad, no son eficientes para la exploración inicial en la identificación de las asociaciones gen-enfermedad. Los estudios transversales son menos costosos, requieren períodos de tiempo más cortos y son de utilidad para estimar la prevalencia de enfermedades, de factores de riesgo o de variantes genéticas. Los estudios basados en familias han sido exitosos para encontrar alelos que confieren mayor riesgo para el desarrollo de enfermedades de transmisión mendeliana.
This article describes the features of the epidemiologic research designs most commonly used in genetic association studies. Case-control studies are efficient in evaluating associations between candidate genes and disease. Cohort studies, in contrast, yield a greater degree of causality but are not efficient for the initial exploration to identify gene-disease associations. Cross-sectional studies are less expensive, require less time, and are useful for estimating the prevalence of diseases, risk factors, and genetic variants. Family-based studies have been successful in finding alleles that confer greater risk for developing Mendelian inheritance disorders.
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Humans , Epidemiologic Research Design , Molecular Epidemiology , Bias , Case-Control Studies , Cohort Studies , Cross-Sectional Studies , Family Health , Gene-Environment Interaction , Genetic Association Studies , Genotyping Techniques , Linkage Disequilibrium , Models, Genetic , RiskABSTRACT
OBJECTIVE AND METHOD: A large increase in the number of Brazilian studies on psychiatric genetics has been observed in the 1970's since the first publications conducted by a group of researchers in Brazil. Here we reviewed the literature and evaluated the advantages and difficulties of psychiatric genetic studies in the Brazilian population. CONCLUSION: The Brazilian population is one of the most heterogeneous populations in the world, formed mainly by the admixture between European, African and Native American populations. Although the admixture process is not a particularity of the Brazilian population, much of the history and social development in Brazil underlies the ethnic melting pot we observe nowadays. Such ethnical heterogeneity of the Brazilian population obviously brings some problems when performing genetic studies. However, the Brazilian population offers a number of particular characteristics that are of major interest when genetic studies are carried out, such as the presence of isolated populations. Thus, differences in the genetic profile and in the exposure to environmental risks may result in different interactions and pathways to psychopathology.
OBJETIVO E MÉTODO: Desde a década de 70, quando os primeiros estudos em genética psiquiátrica conduzidos por um grupo de brasileiros foram publicados, o número de trabalhos realizados no Brasil vem aumentando consideravelmente. Através desta revisão, avaliamos as vantagens e as dificuldades da realização de pesquisas em psiquiatria genética na população brasileira. CONCLUSÃO: A população brasileira é uma das mais heterogêneas do mundo, formada principalmente pela combinação entre populações européia, africana e nativa americana. Apesar de a mistura entre raças não ser uma particularidade da população brasileira, a história e o desenvolvimento social no Brasil ocasionou uma grande miscigenação étnica, a qual é observada atualmente. Devido à heterogeneidade de suas origens, diversos problemas são levantados em estudos genéticos realizados no Brasil. Porém, a população brasileira oferece características particulares para desenvolvimento de pesquisas genéticas, como a presença de populações isoladas. Portanto, diferenças genéticas e exposição a riscos ambientais podem resultar em diferentes interações e caminhos para alterações psicopatológicas.
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Humans , Racial Groups , Genetic Research , Psychiatry , Brazil , Racial Groups/ethnology , Racial Groups/genetics , Genetic Variation , Genetics, Population , Mental Disorders/genetics , Research Support as TopicABSTRACT
The polygenic diseases have complex traits caused by the interaction of hereditary and environmental factors.Moreover,the genetic research in this field is both important and complex.This review comments the significance and the existing questions in the study of the polygenic diseases and provides some ideas for solution of these problems.
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A Pesquisa Genética está definitivamente na pauta da ciência deste século. Em poucas ocasiões, porém, foi analisada sob a ótica da psicanálise. Este trabalho assume a perspectiva de abordar o risco familiar de câncer de mama pelo viés psicanalítico. Para tal, avalia a posição de quatro mulheres que se submeteram à pesquisa genética desenvolvida, em nível regional, pelo Instituto da Mama do Rio Grande do Sul, vinculado ao Banco Nacional de DNA, com o intuito de verificar a ocorrência de mutação genética responsável pelo câncer de mama hereditário. Aborda as influências tecnológicas na subjetividade e a posição do sujeito frente à hereditariedade, à herança e à enfermidade. Este trabalho de pesquisa é parte de um estudo denominado “Estudo psicanalítico do adoecer de câncer de mama” que , por sua vez fez parte do projeto mais amplo designado como Projeto do Banco Nacional de DNA, executado junto ao Ministério da Saúde.
La Investigación Genética es indudablemente un tema científico relevante de este siglo. No obstante, en muy pocas ocasiones fue analizada bajo la óptica del psicoanálisis. Este trabajo adopta la perspectiva de abordar el riesgo familiar de cáncer de mama desde un perfil psicoanalítico. Con esa finalidad, evalúa la posición de cuatro mujeres que se sometieron a la indagación genética llevada a cabo, a nivel regional, por el Instituto da Mama do Rio Grande do Sul, vinculado al Banco Nacional de DNA, con el objeto de verificar la ocurrencia de la mutación genética, responsable por el cáncer de mama hereditario. Aborda las influencias tecnológicas en la subjetividad y en la posición del sujeto frente a la enfermedad hereditaria, la herencia y la enfermedad. Este trabajo de investigación es parte de un estudio denominado “Estudio Psicoanalítico de la Enfermedad de Cáncer de Mama”, que a su vez forma parte de un proyecto más amplio llamado Projeto do Banco Nacional de DNA, realizado conjuntamente con el Ministério de Salud.
La recherche génétique est définitivement à l’ordre du jour pour la science de ce siècle. Cependant, elle a rarement été analysée dans la perspective de la psychanalyse. Ce travail aborde le risque héréditaire de cancer du sein à travers un regard psychanalytique. Pour ce faire, il évalue la place de quatre femmes ayant participé à la recherche génétique développée au niveau régional par l´Institut du Sein de l’état du Rio Grande do Sul, rattaché à la Banque Nationale d’ADN, dans l’objectif de vérifier la survenue de mutation génétique responsable du cancer héréditaire du sein. Il aborde les influences technologiques sur la subjectivité et la position du sujet face à l´héréditaire et la maladie. Ce travail de recherche fait partie d’une étude intitulée “Étude Psychanalytique sur l’apparition du cancer du sein”, qui pour sa part, fait partie d´un projet plus vaste, le Projet de la Banque Nationale d’ADN, réalisé conjointement avec le Ministère de la Santé.
Genetic research is clearly a relevant scientific issue in this century. On very few occasions, however, has it been analysed from a psychoanalytical perspective. This paper discusses the family-related risk of breast cancer from a psychoanalytical approach. The positions of four women who underwent genetic research are evaluated, based on a regional study carried out by the Instituto da Mama do Rio Grande do Sul, associated with the Banco Nacional de DNA with the purpose of verifying the occurrence of the genetic mutation responsible for the heredity of breast cancer. The paper discusses the technological influences on subjectivity and the position concerning heredity, inheritance and illness. This research is part of a study entitled “Psychoanalytical study on breast cancer” and is included in a Project of the Banco Nacional de DNA, sponsored by the Brazilian Health Ministry.
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The mechanism of the development of sporadic renal cell carcinomas is complicated,which is different from that of hereditary renal-cell carcinoma.Genetics abnormality such as loss of 3p,VHLgene mutations may help differentiate pathological subtype of renal cell carcinoma and some gene markers may be useful predictors for prognosis.The current status of genetic study in renal cell carcinomas is reviewed in this article.