Genetic/genomic testing: defining the parameters for ethical, legal and social implications (ELSI).

BACKGROUND: Genetic/genomic testing (GGT) are useful tools for improving health and preventing diseases. Still, since GGT deals with sensitive personal information that could significantly impact a patient's life or that of their family, it becomes imperative to consider Ethical, Legal and Social Implications (ELSI). Thus, ELSI studies aim to identify and address concerns raised by genomic research that could affect individuals, their family, and society. However, there are quantitative and qualitative discrepancies in the literature to describe the elements that provide content to the ELSI studies and such problems may result in patient misinformation and harmful choices. METHODS: We analyzed the major international documents published by international organizations to specify the parameters that define ELSI and the recognized criteria for GGT, which may prove useful for researchers, health professionals and policymakers. First, we defined the parameters of the ethical, legal and social fields in GGT to avoid ambiguities when using the acronym ELSI. Then, we selected nine documents from 44 relevant publications by international organizations related to genomic medicine. RESULTS: We identified 29 ELSI sub-criteria concerning to GGT, which were organized and grouped within 10 minimum criteria: two from the ethical field, four from the legal field and four from the social field. An additional analysis of the number of appearances of these 29 sub-criteria in the analyzed documents allowed us to order them and to determine 7 priority criteria for starting to evaluate and propose national regulations for GGT. CONCLUSIONS: We propose that the ELSI criteria identified herein could serve as a starting point to formulate national regulation on personalized genomic medicine, ensuring consistency with international bioethical requirements.

Ethical issues in susceptibility genetic testing for late-onset neurodegenerative diseases.

Genome-wide association studies have revolutionized our understanding of the genetic architecture of complex traits and diseases over the last decade. This knowledge is enabling clinicians, researchers, and direct-to-consumer genetics companies to conduct disease susceptibility testing based on powerful methods such as polygenic risk scoring. However, these technologies raise a set of complex ethical, legal, social, and policy considerations. Here we review and discuss a series of ethical dilemmas associated with susceptibility genetic testing for the two most common late-onset neurodegenerative diseases, Alzheimer's and Parkinson's disease, including testing in asymptomatic individuals. Among others, these include informed consent, disclosure of results and unexpected findings, mandatory screening, privacy and confidentiality, and stigma and genetic discrimination. Importantly, appropriate counseling is a deciding factor for the ethical soundness of genetic testing, which poses a challenge for the regulation of these tests and the training of healthcare professionals. As genetic knowledge about these diseases continues growing and genetic testing becomes more widespread, it is increasingly important to raise awareness among researchers, medical practitioners, genetic counselors, and decision makers about the ethical, legal, and social issues associated with genetic testing for polygenic diseases.

[Genomic medicine in public health policies: a perspective of Mexican biomedical researchers]. / La medicina genómica en las políticas de salud pública: una perspectiva de investigadores mexicanos del área biomédica.

OBJECTIVE: The purpose of this study was to explore the researcher's perspectives on genomic medicine (GM) and its consequences in the decision-making process regarding the health policy in Mexico. MATERIALS AND METHODS: An exploratory qualitative research was conducted (semi-structured questionnaire). The study was conducted during the II National Congress of GM (25 - 27th October 2006). RESULTS: We identified four categories amongst the researcher's perspectives regarding the applicability of GM and the political feasibility of the genomics research. Some researchers believe that the 3P's of GM (Predictive, Personalized, Preventive) have generated "inflated expectations" on the real impact on public health (PH). Opinions were divided among those who believed that GM is the new 'paradigm' of PH and those who thought that GM is part of a set of tools for PH. CONCLUSION: To improve the health conditions of the Mexican population, GM must be part in the solution of the PH problems, but we need a realistic view.

The Pandora's box of transparency opened by direct-to-consumer genetic testing.

With the increasing use of direct-to-consumer (DTC) genetic testing, several cases of fertility fraud have been uncovered throughout the world. A review of newspaper articles and specialized literature was made to analyze the issue of fertility fraud. The most famous cases, some of which are narrated in this article, became a scandal because they were committed by the doctors who treated the patients in question as a routine procedure in their medical practice. Some have been widely exposed in documentaries on streaming platforms, thereby raising awareness about a grave problem. The discussion focuses on the ambiguous regulation on the anonymity of donors, which has been one of the elements of the deception committed against the families using these services. Anonymity nowadays collides with the fascinating Pandora's box of transparency in genetic information that has been opened by DTC genetic testing.

Contextual and Cultural Perspectives on Neurorights: Reflections Toward an International Consensus.

The development and use of advanced and innovative neuroscience, neurotechnology and some forms of artificial intelligence have exposed potential threats to the human condition, including human rights. As a result, reconceptualizing or creating human rights (i.e. neurorights) has been proposed to address specific brain and mind issues like free will, personal identity and cognitive liberty. However, perceptions, interpretations and meanings of these issues-and of neurorights-may vary between countries, contexts and cultures, all relevant for an international-consensus definition and implementation of neurorights. Thus, we encourage reflecting on the proactive inclusion of transnational, cross-cultural and contextual considerations and concerns to contribute to the global discourse. This inclusion does not mean endorsing ethical relativism but rather a call to foster a universal understanding of key concepts and concerns. Including contextual and cultural perspectives may truly anticipate global concerns which could be addressed while developing and implementing neurorights. Consequently, any ethical and/or legal regulatory framework(s) for the translational and transnational use of advanced neuroscience, neurotechnology and some forms of artificial intelligence intended to protect and safeguard human dignity should be contextually and culturally mindful, responsible, respectful and inclusive of not only human rights and fundamental freedoms but also of neurocognitive cultural diversity.

Mexican Regulation of Biobanks.

Biobank-based research in Mexico is mostly governed by research and data protection laws. There is no direct mention of biobanks in either statutory or regulatory law besides a requirement that the Federal Ministry of Health and a Mexican institution devoted to scientific research approve the transfer of biological materials outside of Mexico for population genetics research purposes. Such requirements are the basis of Genomic Sovereignty in Mexico, but such requirements have not prevented international collaboration. In addition, Mexican law singles out genetic research in informed consent provisions, but it does not specify whether all biobank-based research is genetic research. In order to facilitate international collaboration on biobank-based research, Mexico should directly address biobanking in its laws, building on the research framework and data protection framework already in place.

Genomic sovereignty or the enemy within / Soberanía genómica o el enemigo interior / Soberania genômica ou o inimigo interior

Genomic sovereignty is a concept that has become very popular among developing countries such as India, China, South Africa and Mexico. This concept is a response to developed countries that have taken advantage of those countries and researchers who don't have the means for protecting their own biogenetic resources. In this article we argue that genomic sovereignty is not about the “others” extracting and exploiting local “human genetic resources”, but developing and implementing the ethical, legal and administrative tools, based on transparency, openness and equal access to biological material, in order to build up a robust research networks. Being biological samples a scarce and valuable good, we conclude that controlling the access to this resource by means of the law, without a well implemented biobanking system and a clear scientific policy may lead to a situation where asymmetric relations are generated among research groups of the very same developing country. We would advice to those countries pretending to protect their biological samples and data from the outside, before developing laws against possible “intrusions”, they need to design strategies to promote equal and fair access to both resources paramount to biomedical research.

“Soberanía genómica” es un concepto que se ha hecho muy popular entre los países en desarrollo, como India, China, Sudáfrica y México. Este concepto es una respuesta a los países desarrollados que han tomado ventaja, aprovechándose de aquellos países y de los investigadores que no tienen los medios para proteger sus propios recursos biogenéticos. En este artículo argumentamos que la soberanía genética no se trata de impedir que “otros” extraigan y exploten “los recursos genéticos humanos” locales, sino del desarrollo y de la aplicación de las herramientas éticas, jurídicas y administrativas basadas en la transparencia, la apertura e igualdad en el acceso al material biológico, con el fin de construir redes de investigación sólidas. Al ser las muestras biológicas un bien escaso y valioso, concluimos que el control del acceso a este recurso, por medio de la ley, sin un sistema de biobancos bien implementado y sin una política científica clara, puede llevar a una relación asimétrica entre los grupos de investigación del mismo país en desarrollo. Nos gustaría advertir a los países que pretenden proteger sus muestras biológicas y datos asociados que, antes que elaborar leyes contra posibles intrusiones, es necesario diseñar estrategias para promover el acceso justo y equitativo a los recursos primordiales para la investigación biomédica.

“Soberania genômica” é um conceito que se fez muito popular entre os países em desenvolvimento, como Índia, China, África do Sul e México. Este conceito é uma resposta aos países desenvolvidos que obtiveram vantagem, aproveitando-se daqueles países e dos investigadores que não têm meios para proteger os seus próprios recursos biogenéticos. Neste artigo argumentamos que a soberania genética não trata de impedir que “outros” extraiam e explorem “os recursos genéticos humanos” locais, senão do desenvolvimento e da aplicação das ferramentas éticas, jurídicas e administrativas baseadas na transparência, abertura e igualdade no acesso ao material biológico, com a finalidade de construir redes de investigação sólidas. Por serem as amostras biológicas um bem escasso e valioso, concluimos que o controle do acesso a este recurso, por meio da lei, sem um sistema de biobancos bem implementado e sem uma política científica clara, pode levar a uma relação assimétrica entre os grupos de investigação de um mesmo país em desenvolvimento. Gostaríamos advertir aos países que pretendem proteger suas amostras biológicas e dados associados que, antes de elaborar leis contra possíveis intromissões, é necessário projetar estratégias para promover o acesso justo e equitativo aos recursos primordiais para a investigação biomédica.

La medicina genómica en las políticas de salud pública: una perspectiva de investigadores mexicanos del área biomédica / Genomic medicine in public health policies: a perspective of Mexican biomedical researchers

OBJETIVO: Explorar las perspectivas de los investigadores en medicina genómica y cómo incide esta última en las políticas de salud en México. MATERIAL Y MÉTODOS: Se realizó una investigación cualitativa a partir de entrevistas semiestructuradas, durante el II Congreso Nacional de de Medicina Genómica celebrado en México del 25 al 27 de octubre de 2006. RESULTADOS: Se identificaron cuatro categorías con respecto a la aplicabilidad de la medicina genómica y la viabilidad política de la investigación genómica. Algunos investigadores consideran que las tres "P" de la medicina genómica, predictiva, personalizada y preventiva, generaron "expectativas exageradas" sobre su impacto real en salud pública. Las opiniones se dividieron entre aquéllos que consideran la medicina genómica como el nuevo "paradigma" de salud pública y quienen piensan que se trata más bien de una herramienta de la salud pública. CONCLUSIÓN: Si bien no cabe duda que la medicina genómica constituye uno de los campos de la salud pública orientados a mejorar las condiones de salud de los mexicanos, no deben perderse de vista sus alcances reales.

OBJECTIVE: The purpose of this study was to explore the researcher's perspectives on genomic medicine (GM) and its consequences in the decision-making process regarding the health policy in Mexico. MATERIALS AND METHODS: An exploratory qualitative research was conducted (semi-structured questionnaire). The study was conducted during the II National Congress of GM (25 - 27th October 2006). RESULTS: We identified four categories amongst the researcher's perspectives regarding the applicability of GM and the political feasibility of the genomics research. Some researchers believe that the 3P's of GM (Predictive, Personalized, Preventive) have generated "inflated expectations" on the real impact on public health (PH). Opinions were divided among those who believed that GM is the new 'paradigm' of PH and those who thought that GM is part of a set of tools for PH. CONCLUSION: To improve the health conditions of the Mexican population, GM must be part in the solution of the PH problems, but we need a realistic view.

Individualidad genética y la Declaracion Universasl sobre el Genoma Humano y los Derechos Humanos / Genetic individuality and the Universal Declaration on the Human Genome and Human Rights

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La medicina genómica en las políticas de salud pública: una perspectiva de investigadores mexicanos del área biomédica

Objetivo. Explorar las perspectivas de los investigadores en medicina genómica y cómo incide esta última en las políticas de salud en México. Material y métodos. Se realizó una investigación cualitativa a partir de entrevistas semiestructuradas,durante el II Congreso Nacional de de Medicina Genómica celebrado en México del 25 al 27 de octubre de 2006. Resultados. Se identificaron cuatro categorías con respecto a la aplicabilidad de la medicina genómica y la viabilidad política de la investigación genómica. Algunos investigadores consideran que las tres “P” de la medicina genómica, predictiva, personalizada y preventiva, generaron “expectativas exageradas” sobre su impacto real en salud pública. Las opiniones se dividieron entre aquéllos que consideran la medicina genómica como el nuevo “paradigma” de salud pública y quienen piensan que se trata más bien de una herramienta de la salud pública.