A virtual deliberative public engagement study on heritable genome editing among South Africans: Study protocol.

This article outlines the protocol for a prospective study for virtual deliberative public engagement on heritable genome editing in humans. The study intends to create a platform for a diverse group of 25-30 South Africans to engage with a facilitator and each other on 15 policy questions regarding heritable genome editing, with a focus on: a) the prevention of heritable genetic conditions; b) editing for immunity; and c) editing for enhancement. The aim is to understand the views on these issues so as to inform further research and policy, and to analyse the process and effect of deliberation on opinion. Participants will be expected to study the provided resource materials and pass the entrance exam-aligning with the protocols of the Harvard Personal Genome Project. In this way, the commitment, openness and basic knowledge of the candidates will be tested to ascertain whether they are suitable participants for the deliberative engagement.

De la transgénesis a la edición génica. Aplicaciones y consideraciones bioéticas / From transgenesis to gene edition. Bioethical and applied considerations

La transgénesis constituye una parcela de la biotecnología consistente en la introducción de información genética no propia en el genoma de los seres vivos y al margen de los mecanismos del intercambio genético natural. Esto ha permitido abordar importantes aplicaciones en bacterias, animales y plantas con notables beneficios en las vertientes sanitaria, alimentaria y ambiental. Desde su origen, la obtención de los organismos modificados genéticamente (OMGs) suscitó una cierta polémica por la posible influencia negativa de estos organismos o de sus productos derivados para la salud y el medio-ambiente. Con el tiempo, las técnicas de modificación genética han mejorado dando paso a otras de mayor precisión, sencillez y seguridad. En la actualidad se utiliza ampliamente la técnica CRISPR-Cas9, que permite editar, modificar o eliminar secuencias específicas del ADN, con múltiples aplicaciones en los mismos campos de la transgénesis, pero con mayor simplicidad, seguridad y menor costo. En este trabajo, se presentan las principales técnicas, aplicaciones e implicaciones éticas de la utilización de estas técnicas y sus perspectivas en un mundo en continua evolución. Las bacterias para la obtención de productos de interés farmacológico, las nuevas variedades de plantas cultivadas de mayor producción, más resistencia a agentes limitantes de su crecimiento y mejor calidad nutricional y los animales domésticos modificados genéticamente, ofrecen un conjunto de ventajas necesarias para hacer frente a los desafíos globales que afectan a la vida de muchas personas en todo el mundo

Transgenesis is a parcel of biotechnology that allows the introduction of genetic information not pro-per to the genome of living beings, apart from the mechanisms of natural genetic exchange. This made possible to address important applications in bacteria, animals and plants with significant benefits in health, food and environmental aspects. Since its origin, the production of genetically modified organisms (GMOs) caused some controversy due to the possible negative influence of these organisms or their derived products on health and the environment. Over time, genetic modification techniques have renewed, giving way to others of greater precision, simplicity and safety. Currently the CRISPR-Cas9 technique is widely used, which allows to edit, modify or eliminate specific DNA sequences, with multiple applications in the same fields of transgenesis, but adding greater simplicity, security and lower cost. This work presents the main techniques, applications and ethical implications of using these methods and their perspectives in an ever-evolving world. The bacteria for obtaining products of pharmacological interest, new varieties of cultivated plants of higher production, more resistance to growth limiting agents and better nutritional quality and domestic animals modified genetically, offer a set of advantages needed to address the global challenges that affect the lives of many people around the world

Toward greater understanding of patient decision-making around genome sequencing.

In the era of next-generation sequencing, it is essential to collect and understand the patient outcomes that result from this new technology. One critical determinant of these is the process by which individuals first decide whether and how to pursue genome sequencing. In this perspective article, we examine the literature on adult patient decision-making in genome sequencing and identify current research gaps to address. Several studies have explored the motivations and concerns of patients undergoing sequencing; less attention has been paid to those who decline sequencing or to individuals from lower socioeconomic groups. Many factors that might play a role in the decision to pursue or decline sequencing, including trust, family dynamics and barriers to access, have yet to be explored fully. Future research that captures the experience of the wider population will produce a more generalizable understanding of the clinical, psychosocial, and economic outcomes of pursuing or declining sequencing.

Germline Editing: Editors Cautionary.

This communication is regarding the recent editing of the genome of the human embryo with CRISPR/Cas9 which generated a debate amongst the biological scientists around the world. Editing human germline genes may act as godsend in some serious genetic and other disorders as the genes related to these disorders can be replaced effectively. The scientists are in dilemma whether the human germline gene modification is a boon or bane for the human society. Though editing human germline genes may be an answer to many serious genetic disorders however; it may have unpredictable effects on future generations. The ethical issues regarding the germline editing need further discussion which may have implications on human race and on-going human evolution. Thus, the researchers need to be doubly cautious and some stringent regulations should be framed regarding the various aspects of germ line gene modifications and any potential conflict with nature for future outcome.

Big Data in Genomics: ethical challenges and risks / 'Big Data' en genómica: retos y riesgos éticos / 'Big Data' en genòmica: reptes i riscos ètics

Genomic information is a class of Big Data in expanding use thanks to technological developments. Here, we review three categories of ethical risks and challenges associated with genomic information: privacy issues, the management of incidental findings, and challenges in data storage and sharing. First, we need to implement strong mechanisms to protect privacy, but genomic data faces specific risks and we need to acknowledge the possibility of re-identification. Proper usage of genomic information has to be regulated, including recommendations on incidental finding management. Also, clear policies for data sharing and explicit efforts to promote central repositories of genomic data should be established. However, technology and new applications of genetic information will develop fast and we should anticipate potential new risks

La información genómica es un tipo de 'Big Data' de uso creciente debido a mejoras tecnológicas. En este trabajo, revisamos tres grupos de retos y riesgos éticos asociados con esta información: riesgos de privacidad, gestión de los hallazgos incidentales y retos en el almacenamiento y compartición de datos. En primer lugar, debemos establecer mecanismos sólidos para proteger la privacidad, pero los datos genómicos presentan riesgos específicos y debemos admitir la posibilidad de reidentificación. Hay que regular el uso adecuado de la información genómica incluyendo recomendaciones para la gestión de los hallazgos incidentales. También hay que establecer políticas claras para compartir datos y fomentar el uso de repositorios de datos genómicos. No obstante, debemos esperar desarrollos rápidos en la tecnología y nuevas aplicaciones de la información genética, y debemos anticiparnos a los futuros riesgos potenciales

La informació genòmica és un tipus de 'Big Data' d’ús creixent a causa de millores tecnològiques. En aquest treball, revisem tres grups de reptes i riscos ètics associats amb aquesta informació: riscos de privadesa, gestió de les troballes incidentals i reptes en l'emmagatzematge i compartició de dades. En primer lloc, hem d’establir mecanismes sòlids per protegir la privadesa, però les dades genòmiques presenten riscos específics i hem d'admetre la possibilitat de reidentificació. Cal regular l'ús adequat de la informació genòmica incloent-hi recomanacions per a la gestió de les troballes incidentals. També cal establir polítiques clares per compartir dades i fomentar l'ús de repositoris de dades genòmiques. No obstant això, hem d'esperar desenvolupaments ràpids a la tecnologia i noves aplicacions de la informació genètica, i hem d'anticipar-nos als riscos potencials futurs

Direito ao patrimônio genético como direito transindividual: considerações sobre o caso Sangue Yanomami / Derecho al patrimonio genético como derecho transindividual: consideraciones sobre la controversia de la sangre Yanomami / Dret al patrimoni genètic com a dret transindividual: consideracions sobre la controvèrsia de la sang Yanomami / Right to Genetic Heritage as Transindividual Right: considerations about the Yanomami Blood Controversy

O presente artigo revisita a controvérsia sobre o Sangue Yanomami, no qual uma aldeia do povo yanomami exigiu a repatriação de amostras de sangue indígena coletada por pesquisadores estrangeiros nos anos 1960, quando eles estiveram na floresta amazônica. Ela é apresentada como um leading case no processo de reconhecimento tanto do direito individual à identidade genética (direito ao genoma) como do direito transindividual ao patrimônio genético da Humanidade (direito do genoma). O caso é relevante, dentre outros, porque permite que se compreenda a postulação dos yanomamis a partir (I) do direito ao genoma exercido coletivamente por uma comunidade e (II) do direito difuso que têm a Humanidade em exigir respeito ao material genético que possua um valor cultural (imaterial) específico (não científico) para aquela comunidade

Este artículo retoma la controversia de la Sangre Yanomami, en que una aldea yanomami exigió la repatriación de las muestras de sangre indígena recolectadas por investigadores extranjeros en la jungla amazónica en los años ’60. Se muestra como un caso destacado en el proceso de reconocimiento de dos derechos: a la identidad genética (derecho al genoma) y el derecho transindividual al patrimonio genético de la Humanidad (derecho genómico). Este caso es relevante, entre otros, porque permite entender la demanda yanomami del (I) derecho a genoma, ejercido colectivamente por la comunidad, y (II) el derecho de la Humanidad a exigir respeto por su material genético en virtud de sus valores culturales específicos (inmateriales) para la comunidad

Aquest article reprèn la controvèrsia de la Sang Yanomami, en la qual un poblat yanomami va exigir la repatriació de les mostres de sang indígenes recol·lectades per investigadors estrangers a la jungla amazònica en els anys ’60. Es tracta d’un cas remarcable en el procés de reconeixement de dos drets: el dret a la identitat genètica (dret al genoma) i el dret transindividual al patrimoni genètic de la humanitat (dret genòmic). Aquest cas és rellevant, entre d’altres coses, perquè permet entendre la demanda yanomami del (I) dret a genoma, exercit col·lectivament per la comunitat, i (II) el dret de la humanitat a exigir respecte pel seu material genètic en virtut dels seus valors culturals específics (immaterials) per la comunitat

This paper revisits the Yanomami Blood Controversy, in which a yanomami village demanded repatriation of indigenous blood samples collected by foreign researchers in ‘60s when they were in Amazon jungle. It is shown as a leading case in the process of recognition both individual right to genetic identity (right to genome) as well as transindividual right to genetic patrimony of Humanity (genome law). This case is relevant, among others, because it allows one to understand the yanomami demand from (I) right to genome collectivelly exercised by the community and (II) Humanity's right to demand respect to genetic material for its specific cultural values (immaterial) for that community

Single-cell gene variation analysis method for single gland.

Single-cell analysis of heterogeneity has become the cutting-edge technology for profound understandings of relationships between cell populations. At present, common methods used in single cellular genomic research are mainly microfluidic technologies (Fluidigm) or based on microwells, both requiring a uniform size of cells at the entrance. However, the size of cells in specific tissues can vary from type to type. To address this issue, we need to establish a method to identify genomic features of individual cells of different sizes. In this paper, we developed a robust method in the analysis of single cellular genomic mutations among gastric tissues. Briefly, the single gastric gland was isolated from the whole tissue, and further enzymatically digested into single cells of various sizes by trypsin. These single cells were then spread on the polyethylene naphthalene slides and selected by the laser microdissection method. Whole genome amplification (WGA) and capillary electrophoresis were performed subsequently to detect single cell microsatellite. This method enabled us to detect the existence of microsatellite instability (MSI) of each single cell within the intestinal metaplasia, and to carry out a flexible and fine analysis of single cells with different sizes in tissues and glands. This reliable and practical method is well performed in both low and high-throughput genome analysis when combined with cell labeling methods, thus providing a novel and highly flexible way to study tissue heterogeneity on the single cell scale.

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.

PURPOSE: Eliciting and understanding patient and research participant preferences regarding return of secondary test results are key aspects of genomic medicine. A valid instrument should be easily understood without extensive pretest counseling while still faithfully eliciting patients' preferences. METHODS: We conducted focus groups with 110 adults to understand patient perspectives on secondary genomic findings and the role that preferences should play. We then developed and refined a draft instrument and used it to elicit preferences from parents participating in a genomic sequencing study in children with intellectual disabilities. RESULTS: Patients preferred filtering of secondary genomic results to avoid information overload and to avoid learning what the future holds, among other reasons. Patients preferred to make autonomous choices about which categories of results to receive and to have their choices applied automatically before results are returned to them and their clinicians. The Preferences Instrument for Genomic Secondary Results (PIGSR) is designed to be completed by patients or research participants without assistance and to guide bioinformatic analysis of genomic raw data. Most participants wanted to receive all secondary results, but a significant minority indicated other preferences. CONCLUSIONS: Our novel instrument-PIGSR-should be useful in a wide variety of clinical and research settings.Genet Med 19 3, 337-344.

Stability of Attitudes to the Ethical Issues Raised by the Return of Incidental Genomic Research Findings in Children: A Follow-Up Study.

OBJECTIVE: We explore the stability of parental attitudes to the ethical issues raised by the return of genomic research results. METHODS: A 19-item questionnaire was mailed to participants in a large genome research consortium 18 months following a baseline survey. We describe the stability of parental attitudes to (a) sharing of genomic research results, (b) endorsement of children in genomic research, (c) responsibilities of researchers, and (d) responsibilities to extended family. We also explore their experience in receiving results. RESULTS: Of 170 original participants, 154 (91%) responded. Most participants expressed positive rights to receive incidental genomic research findings (85%), including when ameliorative therapy was unknown (85%). Only 3% found it acceptable to delegate the decision to return results to an independent committee. Researchers, either with a parent (42%) or physician (17%), were felt to be responsible to convey research results to children when they reach adulthood. Most participants (74%) indicated that results should be shared with potentially affected extended family. These results are very similar to those of the baseline survey. All participants who received genomic results would do so again and reported actions similar to their expressed attitudes. CONCLUSIONS: The opinions of parents regarding genomic research remain stable over time. Guidelines on the return of results should incorporate these findings.

El derecho a gozar de los beneficios de la ciencia. Una aproximación a su contenido, considerando las Declaraciones de la UNESCO sobre el genoma, datos genéticos humanos y bioética / No disponible

El derecho a gozar de los beneficios de la cienca, consagrados tanto en la Declaración Universal de Derechos Humanos como en el Pacto de Derechos Económicos, Sociales y Culturales, ha recobrado importancia con la dictación de diversas declaraciones de la UNESCO, que se refieren a ella en ámbitos específicos, la biomedicina, la genética y la genómica. El objeto de este trabajo es realizar una proximación a su contenido, revisando su consagración en el Derecho Internacional de los Derechos Humanos, para, finalmente, determinar de qué manera puede considerarse reconocido en la Constitución española. Todo ello partiendo de la premisa que el derecho de gozar de los beneficios de la ciencia no es un derecho humano autónomo, sino parte integrante de la libertad de investigación científica (AU)

The Right to Enjoy the Benefits of Scientific Progress, enshrined in the Universal Declaration of Human Rights and in the International Covenant on Economic, Social and Cultural Rights has recovered importance with the recently UNESCO Statements. The object of this work is to make a study about the content of this right, reviewing how it is recognized at the International Human Rights Law as well as to analyses how it is possible that it could be protected in the Spanish Constitution. The starting point of this work is the right to enjoy the benefits of scientific progress is not an autonomous human right, but integral part of the freedom of scientific research (AU)

Impacto jurídico y ético del proyecto ENCODE / Legal and ethical impact of the ENCODE project

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Medicina genómica: aspectos éticos, legales y sociales del genoma humano / Genomic medicine: ethical, legal and social aspects of the human genome / Medicina genômica: aspectos éticos, legais e sociais do genoma humano

La Medicina Genómica es el uso de la información de los genomas y sus derivados (ARN, proteínas y metabolitos) que permite guiar la toma de decisiones médicas, es un componente clave de la medicina personalizada. La Medicina Genómica permite conocer la cartografía del genoma humano y proporciona una valiosa información a tener en cuenta a la hora de detectar genes implicados en ciertas enfermedades. Esto conlleva a que en la actualidad nos centremos más en la predicción de patologías que en la prevención, por lo que la tendencia es que en el futuro la Medicina Genómica acabe desbancando a la Medicina Preventiva. El Proyecto Genoma Humano presenta diversas aplicaciones que, al no tener una clara cobertura legal, traen consigo un nuevo paradigma con problemas éticos, sociales y legales que la comunidad científica trata de resolver para compaginar los aspectos morales con el progreso en la investigación. El objetivo del presente trabajo es describir brevemente los aspectos éticos, legales y sociales del Genoma Humano...

Genomic Medicine and its different forms of application (personalized or individualized medicine, which are part of pharmacogenomics, toxicogenomics and nutrigenomics, and predictive, regenerative placement, molecular and reproductive medicine), without a doubt have transformed the modern cine and are a new paradigm. This article aims to review the various forms of genomic medicine, since its benefits to human health and substantial changes in the approach to health-disease process, as well as the problems and paradoxes associated to be addressed from bioethics and Law...

A Medicina Genômica é o uso da informação dos genomas e seus derivados (ARN, proteínas e metabólitos) e permite guiar a tomada de decisões médicas; é um componente-chave da medicina personalizada. A Medicina Genômica permite conhecer a cartografia do genoma humano, proporciona uma valiosa informação a ser considerada na hora de detectar genes implicados em certas doenças. Isto leva a que atualmente nos concentremos mais na predição de patologias que na prevenção, sendo que a tendência é que no futuro a Medicina Genômica acabe desbancando a Medicina Preventiva. O Projeto Genoma Humano apresenta diversas aplicações, que se não tiverem uma clara cobertura legal trazem consigo um novo paradigma, com problemas éticos, sociais e legais que a comunidade científica tenta resolver para compaginar os aspectos morais com o progresso na pesquisa. O objetivo do presente trabalho é descrever brevemente os aspectos éticos, legais e sociais do Genoma Humano...

La medicina genómica: un cambio de paradigma de la medicina moderna retos para la bioética y el derecho / Genomic medicine; a paradigm shift in modern medicine challenges for bioethics an the law / A medicina genômica: uma mudança de paradigma da medicina moderna desafios para a bioética e para o direito

La medicina genómica y sus diferentes formas de aplicación medicinas personalizada o individualizada, de la que hacen parte la farmacogenómica, toxicogenómica y nutrigenómica; y la medicina predictiva, regenerativa o de reemplazo, molecular y reproductiva), sin lugar a dudas han transformado a la medicina moderna y se constituyen en un nuevo paradigma. Este artículo pretende hacer una revisión de las distintas formas de la medicina genómica, desde sus beneficios para la salud humana y cambios sustanciales en el abordaje del proceso salud-enfermedad, así como de las problemáticas y paradojas asociadas que deben ser abordadas desde la Bioética y el Derecho...

Genomic medicine and its different application forms, such as personalized (to which pharmacogenomics, toxicogenomics, nutrigenomics and predictive medicine belong), regenerative, molecular and reproductive medicines, have undoubtedly transformed modern medicine, becoming a new paradigm. The present study aims at reviewing the different forms of genomic medicine, from its benefits to human health, up to the problems and paradoxes that must be approached from bioethics and law...

A medicina genômica e suas diferentes formas de aplicação (medicinas personalizada ou individualizada, da qual fazem parte a farmacogenômica, a toxicogenômica e a nutrigenômica; e a medicina preditiva, regenerativa ou de substituição, molecular e reprodutiva) sem dúvidas têm transformado a medicina moderna e constituem um novo paradigma. Este artigo pretende fazer uma revisão das distintas formas da medicina genômica, desde seus benefícios para a saúde humana e mudanças substanciais na abordagem do processo saúde-doença, bem como das problemáticas e paradoxos associados que devem ser abordados a partir da Bioética e do Direito...

Estudios de asociación de genoma completo: no hay que juzgar un libro por la portada / Genome-wide association studies —do not judge a book by its cover

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