Ancestry in translational genomic medicine: handle with care

Disparities in health outcomes of members of different ancestral or ethnic groups can be observed in both developed and developing countries and continue to be a global concern. Genomic medicine can help toward closing this gap by expanding the knowledge on novel alleles related to disease risk and drug response, their frequencies, and their relation with disease and drug-response phenotypes, in as many countries and ethnic groups as possible. Without such knowledge, genomic medicine cannot deliver upon its promise of contributing to health for all. However, the use of ancestry or ethnicity-related genetic information as a selection criterion for assigning varying levels of access to health care is condemnable. Translational genomic medicine will allow for individualized clinical decision making - doing away with the use of race, ethnicity or ancestry as a proxy

Hippocrates revisited? Old ideals and new realities

Individual genomics has arrived, personal decisions to make use of it are a new reality. What are the implications for the patient–physician relationship? In this article we address three factors that call the traditional concept of confidentiality into question. First, the illusion of absolute data safety, as shown by medical informatics. Second, data sharing as a standard practice in genomics research. Comprehensive data sets are widely accessible. Third, genotyping has become a service that is directly available to consumers. The availability and accessibility of personal health data strongly suggest that the roles in the clinical encounter need to be remodeled. The old ideal of physicians as keepers of confidential information is outstripped by the reality of individuals who decide themselves about the way of using their data

Hippocrates Revisited? Old Ideals and New Realities

Individual genomics has arrived, personal decisions to make use of it are a new reality. What are the implications for the patient–physician relationship? In this article we address three factors that call the traditional concept of confidentiality into question. First, the illusion of absolute data safety, as shown by medical informatics. Second, data sharing as a standard practice in genomics research. Comprehensive data sets are widely accessible. Third, genotyping has become a service that is directly available to consumers. The availability and accessibility of personal health data strongly suggest that the roles in the clinical encounter need to be remodeled. The old ideal of physicians as keepers of confidential information is outstripped by the reality of individuals who decide themselves about the way of using their data

Social license and synthetic biology:the trouble with mining terms

In the wake of controversies over first-generation biotechnologies, the growing field of synthetic biology appears cognizant of the need to attend to the social, political, cultural, and ethical dimensions of innovation. Public engagement has emerged as an important means for attending to these dimensions. Here, we call attention to the problematic nature of one paradigm being drawn upon to conceptualize this public engagement for synthetic biology: social license to operate (SLO). After reviewing SLO's emergence in the resource extraction context and the existing critiques of SLO, we examine its current use in the synthetic biology literature. We argue that an SLO-derived model of engagement is especially inadequate for synthetic biology due to unique challenges posed by synthetic biology and the limited conception of engagement provided by SLO. We conclude by discussing alternative public engagement paradigms and examples better suited to inform synthetic biology governance

Ethical issues related to brain organoid research

This review provides a snapshot of the current ethical issues related to research with human brain organoids. The issues fall into the following main themes: research oversight; human biomaterials procurement and donor consent; translational delivery; animal research; and organoid consciousness and moral status. Each of these areas poses challenges for researchers, bioethicists, regulators, research institutions, and tissue banks. However, progress can be made if these parties build on past experiences with stem cell research, ethics, and policy, but adapted accordingly to new aspects of brain organoid research

Governing Gene Drive Technologies:A Qualitative Interview Study

Background: Gene drive technologies (GDTs) bias the inheritance of a genetic element within a population of non-human organisms, promoting its progressive spread across this population. If successful, GDTs may be used to counter intractable problems such as vector-borne diseases. A key issue in the debate on GDTs relates to what governance is appropriate for these technologies. While governance mechanisms for GDTs are to a significant extent proposed and shaped by professional experts, the perspectives of these experts have not been explored in depth. Methods: A total of 33 GDT experts from different professional disciplines were interviewed to identify, better understand, and juxtapose their perspectives on GDT governance. The pseudonymized transcripts were analyzed thematically. Results: Three main themes were identified: (1) engagement of communities, stakeholders, and publics; (2) power dynamics, and (3) decision-making. There was broad consensus amongst respondents that it is important to engage communities, stakeholders, and publics. Nonetheless, respondents had diverging views on the reasons for doing so and the timing and design of engagement. Respondents also outlined complexities and challenges related to engagement. Moreover, they brought up the power dynamics that are present in GDT research. Respondents stressed the importance of preventing the recurrence of historical injustices and reflected on dilemmas regarding whether and to what extent (foreign) researchers can legitimately make demands regarding local governance. Finally, respondents had diverging views on whether decisions about GDTs should be made in the same way as decisions about other environmental interventions, and on the decision-making model that should be used to decide about GDT deployment. Conclusions: The insights obtained in this interview study give rise to recommendations for the design and evaluation of GDT governance. Moreover, these insights point to unresolved normative questions that need to be addressed to move from general commitments to concrete obligations

Estudio de casos clínicos en neuropsicología desde Research Domain Criteria

La presente investigación tuvo como base el análisis de dos casos de niños de 7 años con aparentes dificultades del aprendizaje utilizando la matriz de Criterios de Dominio para la Investigación, en inglés Research Domain Criteria (RDoC) como fuente importante para ampliar el análisis de manera transversal a la evaluación neuropsicológica. Los instrumentos utilizados fueron los siguientes: WISC, ENI, McCarthy, Facilito, Matriz de RDoC. De acuerdo con los resultados obtenidos en las pruebas neuropsicológicas, pudo evidenciarse que los niños presentan fallas en funciones cognitivas como: atención, memoria de trabajo y desarrollo del proceso lectoescritor. Por otro lado, desde la matriz de RdoC se evidenciaron fallas en los subdominios de: amenaza potencial o “amenaza” (sistemas de valencia negativo), error de predicción de recompensa, hábitos, valoración de la recompensa (sistema de valencia positivo), percepción visual para la lectura, memoria declarativa, lenguaje, control cognitivo, memoria de trabajo (sistemas cognitivos), comunicación social (procesos sociales), acciones motoras de planeación, selección, inhibición y terminación (sistemas sensoriomotores). En ambos casos fue importante la información suministrada en la historia clínica y los factores de riesgo relacionados con antecedentes familiares de enfermedades, discapacidad cognitiva y consumo de sustancias psicoactivas. Finalmente, estudiar los casos desde la perspectiva de RDoC permitió un abordaje más amplio y transversal.The study was based on the analyses of two cases of children that have seven-year old with possible suspect of learning difficulties using the Research Domain Criteria (RDoC) matrix as an important source to expand the analyses transversally to the neuropsychological assessment. The instruments used were the following: WISC, ENI, McCarthy, Facilito, RDoC matrix (Positive valence system, negative valence system, cognitive systems, social processes, alert and regulation systems, sensorimotor systems). According to the results obtained from the neuropsychological tests, it was demonstrated that the children have impairments in cognitive functions such as: attention, working memory and development of the reading and writing process. However, based on the RDoC matrix, difficulties in subdomains were found: potential threat or “threat” (negative valence systems); error of the reward prediction; habits; reward appreciation (positive valence system); visual perception for reading; declarative memory; language; cognitive control; working memory (cognitive systems); social communication (social processes); planning, selection, inhibition and termination motor actions (sensorimotor systems). In both cases, the information provided by the clinical record was important as well as risk factors related to family history of diseases, cognitive disabilities and the intake of psychoactive substances. Finally, studying the cases from a RDoC perspective allowed for a broader and more transversal approach.Psicólogo (a)Pregrad