Mapeamento genético laboral: prospecção axiológica, bioética e legislação brasileira / Occupational genetic mapping: axiological prospecting, bioethics and Brazilian legislation / Mapeo genético laboral: prospección axiológica, bioética y legislación brasileña

Resumo Objetiva-se comparar o estado da legislação brasileira sobre mapeamento genético com o de legislações internacionais visando dimensionar a realidade normativa do país quanto às tendências sociais de reconhecimento das diferenças e a abertura jurídica prospectiva, com foco na área laboral. Trata-se de revisão de literatura e pesquisa documental sobre o diálogo entre bioética, medicina do trabalho e genética, que têm a dignidade humana como ponto em comum. Concluiu-se que se tende a admitir o mapeamento genético de trabalhadores para pesquisa e prevenção do adoecimento, inferindo-se, dado seu referencial comum e de acordo com a perspectiva culturalista do Código Civil, que essa possibilidade se estende à identificação genética de habilidades do trabalhador para o exercício de atividades.

Abstract This work aims to verify the status of Brazilian legislation on genetic mapping, focusing on the occupational sphere, in comparison to international legislation, to assess the country's normative reality regarding social trends related to the recognition of differences and prospective legal opening. This is a review of literature and documents regarding the dialogue between bioethics, occupational medicine and genetics, taking into account that they have human dignity as a common ground. It was concluded that there is a tendency to accept the genetic mapping of workers for research and prevention of illness. Given their common reference and in accordance with the culturalist perspective of the Civil Code, it is inferred that this possibility extends to the genetic identification of workers' skills for the exercise of their duties.

Resumen El objetivo de este trabajo es comparar el estado de la legislación brasileña sobre mapeo genético en relación con el de las legislaciones internacionales, buscando dimensionar la realidad normativa del país ante las tendencias sociales de reconocimiento de las diferencias y la apertura jurídica prospectiva, con foco en el área laboral. Se trata de una revisión de la literatura y de una investigación documental sobre el diálogo entre bioética, medicina del trabajo y genética, considerando que tienen a la dignidad humana como punto en común. Se concluyó que se tiende a admitir el mapeo genético de los trabajadores para la investigación y prevención de enfermedades, infiriéndose, dada su referencia común y de acuerdo con la perspectiva culturalista del Código Civil, que esta posibilidad se extiende a la identificación genética de habilidades del trabajador para para el ejercicio de actividades.

Reporting of race in genome and exome sequencing studies of cancer: a scoping review of the literature.

PURPOSE: Minorities are often underrepresented in clinical cancer research yet the frequency of reporting of race in genomic sequencing studies of cancer is unknown. This scoping review determines the rate at which race is reported as a demographic variable, the factors associated with reporting of race, and the participation rates of minority populations. METHODS: PubMed was systematically searched from 1 January 2010 through 15 November 2018 and 11,014 studies were assessed for eligibility. Publications reporting genome or exome sequencing data for patients with one of the ten most common cancers in the United States were included. RESULTS: A total of 231 publications containing sequencing data from 15,721 unique patients met inclusion criteria. Race was reported in 37% of studies compared with 84% of studies reporting age and 85% reporting gender. Reporting of race was associated with cohort size, sequencing method, familial cancer, cancers with disparities, and reporting of age and gender. Minority populations were significantly underpowered to detect recurrent pathogenic variants in most cancers. CONCLUSION: Race is underreported as a demographic variable in genomic sequencing studies of cancer. Substantially increased efforts are needed to sequence patients from underrepresented populations to reduce health disparities in patients of non-European ancestry.

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.

Identificación de sospechosos a través de búsquedas familiares en la base de datos de ADN de interés criminal. Implicaciones sociales, éticas y científicas / Suspects identification through 'familial searching' in DNA databases of criminal interest. Social, ethical and scientific implications

El uso de la tecnología del ADN ha revolucionado la ciencia forense en los últimos años, convirtiéndose en una herramienta de incalculable valor en los procesos de investigación e identificación forense. Además, la creación de bases de datos de perfiles genéticos de ADN ha permitido relacionar de manera eficiente personas y escenas del delito. La búsqueda familiar es una estrategia importante que permite establecer relaciones familiares entre el perfil genético hallado en la escena del delito, y objeto de la investigación, y eventuales familiares que pudieran encontrarse en dicha base de datos. Esta identificación de potenciales familiares puede permitir la identificación de la persona desconocida y la resolución del hecho delictivo. Esta estrategia de investigación cuenta con impulsores y detractores en relación con su utilización en el ámbito legal, social, ético y científico. El presente artículo revisa todos estos aspectos y aporta una visión general de la situación actual (AU)

In recent years, DNA technology has revolutionised forensic science, becoming an invaluable tool in the investigation and forensic identification processes. Moreover, the creation of DNA databases has allowed to efficiently link people and crime scenes. Familial searching is an important strategy for establishing family relationships between the genetic profile at the centre of the investigation, found at the crime scene, and any family members who might be in the database. This identification of potential relatives can lead to identification of the unknown person and the crime being solved. In the legal, social, ethical and scientific fields, this investigation strategy has both promoters and detractors regarding the effectiveness of its use. This article aims to review all these aspects and provide an overview of the current situation (AU)

Ethical perspectives on life sciences research after mapping the human genome.

The essay discusses ethical perspectives of life sciences research that can help us navigate a path across the genetic landscape that opens before us with the map of the human genome that was announced recently. We can rightly anticipate many drug discoveries and genetic therapies to cure, prevent, or alleviate devastating conditions. But we must also pause with appropriate apprehension about the possible dangers and difficulties we may encounter.