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1.
Hum Genomics ; 15(1): 12, 2021 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-33568209

RESUMO

This letter is the Human Genome Organisation's summary reaction to the 2020 COVID-19 pandemic. It identifies key areas for genomics research, and areas in which genomic scientists can contribute to a global response to the pandemic. The letter has been reviewed and endorsed by the HUGO Committee on Ethics, Law and Society (CELS) and the HUGO Council.


Assuntos
/genética , Sociedades Científicas , /epidemiologia , Genômica/organização & administração , Projeto Genoma Humano , Humanos , Disseminação de Informação , Organizações sem Fins Lucrativos , Pandemias
2.
Am J Hum Genet ; 107(4): 589-595, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-33007198

RESUMO

In the post-genomic era, genomic medicine interventions as a key component of personalized medicine and tailored-made health care are greatly anticipated following recent scientific and technological advances. Indeed, large-scale sequencing efforts that explore human genomic variation have been initiated in several, mostly developed, countries across the globe, such as the United States, the United Kingdom, and a few others. Here, we highlight the successful implementation of large-scale national genomic initiatives, namely the Genome of Greece (GoGreece) and the DNA do Brasil (DNABr), aiming to emphasize the importance of implementing such initiatives in developing countries. Based on this experience, we also provide a roadmap for replicating these projects in other low-resource settings, thereby bringing genomic medicine in these countries closer to clinical fruition.


Assuntos
Genética Médica/organização & administração , Genoma Humano , Genômica/organização & administração , Saúde Única/legislação & jurisprudência , Medicina de Precisão/métodos , Brasil , Países em Desenvolvimento , Grécia , Sequenciamento de Nucleotídeos em Larga Escala/economia , Humanos , Saúde Pública/métodos , Reino Unido , Estados Unidos
3.
PLoS Comput Biol ; 16(1): e1007571, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31978042

RESUMO

High-throughput sequencing has become ubiquitous in biomedical sciences. As new technologies emerge and sequencing costs decline, the diversity and volume of available data increases exponentially, and successfully navigating the data becomes more challenging. Though datasets are often hosted by public repositories, scientists must rely on inconsistent annotation to identify and interpret meaningful data. Moreover, the experimental heterogeneity and wide-ranging quality of high-throughput biological data means that even data with desired cell lines, tissue types, or molecular targets may not be readily interpretable or integrated. We have developed ORSO (Online Resource for Social Omics) as an easy-to-use web application to connect life scientists with genomics data. In ORSO, users interact within a data-driven social network, where they can favorite datasets and follow other users. In addition to more than 30,000 datasets hosted from major biomedical consortia, users may contribute their own data to ORSO, facilitating its discovery by other users. Leveraging user interactions, ORSO provides a novel recommendation system to automatically connect users with hosted data. In addition to social interactions, the recommendation system considers primary read coverage information and annotated metadata. Similarities used by the recommendation system are presented by ORSO in a graph display, allowing exploration of dataset associations. The topology of the network graph reflects established biology, with samples from related systems grouped together. We tested the recommendation system using an RNA-seq time course dataset from differentiation of embryonic stem cells to cardiomyocytes. The ORSO recommendation system correctly predicted early data point sources as embryonic stem cells and late data point sources as heart and muscle samples, resulting in recommendation of related datasets. By connecting scientists with relevant data, ORSO provides a critical new service that facilitates wide-ranging research interests.


Assuntos
Sistemas de Gerenciamento de Base de Dados , Bases de Dados Genéticas , Genômica , Redes Sociais Online , Pesquisadores/organização & administração , Genômica/métodos , Genômica/organização & administração , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mídias Sociais
4.
Nucleic Acids Res ; 48(D1): D24-D33, 2020 01 08.
Artigo em Inglês | MEDLINE | ID: mdl-31702008

RESUMO

The National Genomics Data Center (NGDC) provides a suite of database resources to support worldwide research activities in both academia and industry. With the rapid advancements in higher-throughput and lower-cost sequencing technologies and accordingly the huge volume of multi-omics data generated at exponential scales and rates, NGDC is continually expanding, updating and enriching its core database resources through big data integration and value-added curation. In the past year, efforts for update have been mainly devoted to BioProject, BioSample, GSA, GWH, GVM, NONCODE, LncBook, EWAS Atlas and IC4R. Newly released resources include three human genome databases (PGG.SNV, PGG.Han and CGVD), eLMSG, EWAS Data Hub, GWAS Atlas, iSheep and PADS Arsenal. In addition, four web services, namely, eGPS Cloud, BIG Search, BIG Submission and BIG SSO, have been significantly improved and enhanced. All of these resources along with their services are publicly accessible at https://bigd.big.ac.cn.


Assuntos
Biologia Computacional/métodos , Biologia Computacional/organização & administração , Bases de Dados Genéticas , Genômica/métodos , Genômica/organização & administração , Navegador , Data Warehousing , Genoma Humano , Estudo de Associação Genômica Ampla/métodos , Humanos
5.
Public Health Genomics ; 22(5-6): 208-214, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31805565

RESUMO

Medical practitioners are increasingly adopting a personalized medicine (PM) approach involving individually tailored patient care. The Personalized Prevention of Chronic Diseases (PRECeDI) consortium project, funded within the Marie Sklodowska Curie Action (MSCA) Research and Innovation Staff Exchange (RISE) scheme, had fostered collaboration on PM research and training with special emphasis on the prevention of chronic diseases. From 2014 to 2018, the PRECeDI consortium trained 50 staff members on personalized prevention of chronic diseases through training and research. The acquisition of skills from researchers came from dedicated secondments from academic and nonacademic institutions aimed at training on several research topics related to personalized prevention of cancer and cardiovascular and neurodegenerative diseases. In detail, 5 research domains were addressed: (1) identification and validation of biomarkers for the primary prevention of cardiovascular diseases, secondary prevention of Alzheimer disease, and tertiary prevention of head and neck cancer; (2) economic evaluation of genomic applications; (3) ethical-legal and policy issues surrounding PM; (4) sociotechnical analysis of the pros and cons of informing healthy individuals on their genome; and (5) identification of organizational models for the provision of predictive genetic testing. Based on the results of the research carried out by the PRECeDI consortium, in November 2018, a set of recommendations for policy makers, scientists, and industry has been issued, with the main goal to foster the integration of PM approaches in the field of chronic disease prevention.


Assuntos
Doença Crônica/terapia , Prestação Integrada de Cuidados de Saúde/organização & administração , Genômica/organização & administração , Medicina de Precisão/métodos , Medicina Preventiva/organização & administração , Humanos
6.
Nurs Outlook ; 67(5): 605-612, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31395393

RESUMO

BACKGROUND: In the United States, access to genomic risk assessment, testing, and follow up care is most easily obtained by those who have sufficient financial, educational, and social resources. Multiple barriers limit the ability of populations without those resources to benefit from health care that integrates genomics in assessment of disease risk, diagnosis, and targeted treatment. PURPOSE: To summarize barriers and potential actions to reduce genomic health care disparities. METHOD: Summarize authors' views on discussions at a workshop hosted by the National Academy of Medicine. DISCUSSION: Barriers include access to health care providers that utilize genomics, genetic literacy of providers and patients, and absence of evidence of gene variants importance in ancestrally diverse underserved populations. CONCLUSION: Engagement between underserved communities, health care providers, and policy makers is an essential component to raise awareness and seek solutions to barriers in access to genomic health care for all populations.


Assuntos
Assistência à Saúde/organização & administração , Genômica/organização & administração , Letramento em Saúde , Acesso aos Serviços de Saúde/organização & administração , Disparidades em Assistência à Saúde/organização & administração , Colaboração Intersetorial , Cuidados de Enfermagem/organização & administração , Adulto , Idoso , Idoso de 80 Anos ou mais , Congressos como Assunto , Feminino , Humanos , Masculino , Área Carente de Assistência Médica , Pessoa de Meia-Idade , Estados Unidos
7.
BMC Med ; 17(1): 135, 2019 07 17.
Artigo em Inglês | MEDLINE | ID: mdl-31311600

RESUMO

BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver illness with a genetically heterogeneous background that can be accompanied by considerable morbidity and attendant health care costs. The pathogenesis and progression of NAFLD is complex with many unanswered questions. We conducted genome-wide association studies (GWASs) using both adult and pediatric participants from the Electronic Medical Records and Genomics (eMERGE) Network to identify novel genetic contributors to this condition. METHODS: First, a natural language processing (NLP) algorithm was developed, tested, and deployed at each site to identify 1106 NAFLD cases and 8571 controls and histological data from liver tissue in 235 available participants. These include 1242 pediatric participants (396 cases, 846 controls). The algorithm included billing codes, text queries, laboratory values, and medication records. Next, GWASs were performed on NAFLD cases and controls and case-only analyses using histologic scores and liver function tests adjusting for age, sex, site, ancestry, PC, and body mass index (BMI). RESULTS: Consistent with previous results, a robust association was detected for the PNPLA3 gene cluster in participants with European ancestry. At the PNPLA3-SAMM50 region, three SNPs, rs738409, rs738408, and rs3747207, showed strongest association (best SNP rs738409 p = 1.70 × 10- 20). This effect was consistent in both pediatric (p = 9.92 × 10- 6) and adult (p = 9.73 × 10- 15) cohorts. Additionally, this variant was also associated with disease severity and NAFLD Activity Score (NAS) (p = 3.94 × 10- 8, beta = 0.85). PheWAS analysis link this locus to a spectrum of liver diseases beyond NAFLD with a novel negative correlation with gout (p = 1.09 × 10- 4). We also identified novel loci for NAFLD disease severity, including one novel locus for NAS score near IL17RA (rs5748926, p = 3.80 × 10- 8), and another near ZFP90-CDH1 for fibrosis (rs698718, p = 2.74 × 10- 11). Post-GWAS and gene-based analyses identified more than 300 genes that were used for functional and pathway enrichment analyses. CONCLUSIONS: In summary, this study demonstrates clear confirmation of a previously described NAFLD risk locus and several novel associations. Further collaborative studies including an ethnically diverse population with well-characterized liver histologic features of NAFLD are needed to further validate the novel findings.


Assuntos
Hepatopatia Gordurosa não Alcoólica/genética , Adulto , Idoso , Índice de Massa Corporal , Estudos de Casos e Controles , Redes Comunitárias/organização & administração , Redes Comunitárias/estatística & dados numéricos , Progressão da Doença , Registros Eletrônicos de Saúde/organização & administração , Registros Eletrônicos de Saúde/estatística & dados numéricos , Feminino , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Genômica/organização & administração , Genômica/estatística & dados numéricos , Humanos , Lipase/genética , Masculino , Proteínas de Membrana/genética , Pessoa de Meia-Idade , Morbidade , Hepatopatia Gordurosa não Alcoólica/epidemiologia , Fenótipo , Polimorfismo de Nucleotídeo Único , Transdução de Sinais/genética
8.
Planta ; 250(3): 989-1003, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31073657

RESUMO

MAIN CONCLUSION: The African Orphan Crops Consortium (AOCC) successfully initiated the ambitious genome sequencing project of 101 African orphan crops/trees with 6 genomes sequenced, 6 near completion, and 20 currently in progress. Addressing stunting, malnutrition, and hidden hunger through nutritious, economic, and resilient agri-food system is one of the major agricultural challenges of this century. As sub-Saharan Africa harbors a large portion of the severely malnourished population, the African Orphan Crops Consortium (AOCC) was established in 2011 with an aim to reduce stunting and malnutrition by providing nutritional security through improving locally adapted nutritious, but neglected, under-researched or orphan African food crops. Foods from these indigenous or naturalized crops and trees are rich in minerals, vitamins, and antioxidant, and are an integral part of the dietary portfolio and cultural, social, and economic milieu of African farmers. Through stakeholder consultations supported by the African Union, 101 African orphan and under-researched crop species were prioritized to mainstream into African agri-food systems. The AOCC, through a network of international-regional-public-private partnerships and collaborations, is generating genomic resources of three types, i.e., reference genome sequence, transcriptome sequence, and re-sequencing 100 accessions/species, using next-generation sequencing (NGS) technology. Furthermore, the University of California Davis African Plant Breeding Academy under the AOCC banner is training 150 lead African scientists to breed high yielding, nutritious, and climate-resilient (biotic and abiotic stress tolerant) crop varieties that meet African farmer and consumer needs. To date, one or more forms of sequence data have been produced for 60 crops. Reference genome sequences for six species have already been published, 6 are almost near completion, and 19 are in progress.


Assuntos
Produção Agrícola , Produtos Agrícolas/genética , Genoma de Planta/genética , África ao Sul do Saara , Produção Agrícola/organização & administração , Produtos Agrícolas/crescimento & desenvolvimento , Agricultura Florestal , Genômica/métodos , Genômica/organização & administração , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Árvores/genética , Árvores/crescimento & desenvolvimento
11.
Med Sci (Paris) ; 35(2): 163-168, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-30774085

RESUMO

The announcement of the French Plan 'France Médecine Génomique 2015' demonstrates the will of the public authorities to make genomic medicine one of the flagships of public health and scientific research. It is against this backdrop that France announced its cooperation with Great Britain, one of the global leaders in genomics. The cooperation at an international level requires a common normative framework that addresses the new ethical challenges presented by genomic medicine. In order for such a framework to be adapted to different national contexts, it is important to identify and analyse the emerging ethical questions in general as well as within their specific national contexts. This article discusses the international implications of genomic medicine, and more precisely, the rise of international competitiveness in France. In a next step, the article explores the ethical implications of genomic medicine by taking the prenatal context as a case study. Finally, the article reflects on the way national contexts impact on the emerging ethical questions in France, as compared to Great Britain.


Assuntos
Pesquisa Biomédica , Genômica/ética , Saúde Pública , Medicina Reprodutiva/ética , Adulto , Pesquisa Biomédica/ética , Pesquisa Biomédica/métodos , Pesquisa Biomédica/organização & administração , Pesquisa Biomédica/tendências , Ética Médica , Feminino , França , Genômica/métodos , Genômica/organização & administração , Genômica/tendências , História do Século XX , História do Século XXI , Humanos , Cooperação Internacional , Masculino , Gravidez , Saúde Pública/ética , Saúde Pública/métodos , Saúde Pública/tendências , Medicina Reprodutiva/métodos , Medicina Reprodutiva/organização & administração , Medicina Reprodutiva/tendências , Reino Unido
12.
Am J Hum Genet ; 104(2): 193-196, 2019 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-30735659

RESUMO

Clinical genetics and genomics will exert their greatest population impact by leveraging the rich knowledge of human behavior that is central to the discipline of behavioral medicine. We contend that more concerted efforts are needed to integrate these fields synergistically, and accordingly, we consider barriers and potential actions to hasten such integration.


Assuntos
Pesquisa Comportamental/métodos , Pesquisa Comportamental/organização & administração , Aconselhamento Genético/psicologia , Genética Médica/métodos , Genética Médica/organização & administração , Genômica/métodos , Genômica/organização & administração , Adesão à Medicação/psicologia , Feminino , Humanos , Adesão à Medicação/estatística & dados numéricos , Medicina de Precisão/psicologia , Saúde Pública/métodos
13.
Ethn Dis ; 29(Suppl 3): 629-640, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31889768

RESUMO

In January 2015, President Barack Obama unveiled the "Precision Medicine Initiative," a nationwide research effort to help bring an effective, preventive, and therapeutic approach to medicine. The purpose of the initiative is to bring a precise understanding of the genetic and environmental determinants of disease into clinical settings across the United States.1 The announcement was coupled with $216 million provided in the President's proposed budget for a million-person national research cohort including public and private partnerships with academic medical centers, researchers, foundations, privacy experts, medical ethicists, and medical product innovators. The Initiative promises to expand the use of precision medicine in cancer research and modernize regulatory approval processes for genome sequencing technologies. In response, Congress passed the 21st Century Cures Act in December 2016, authorizing a total of $1.5 billion over 10 years for the program.2 Although the Precision Medicine Initiative heralds great promise for the future of disease treatment and eradication, its implementation and development must be carefully guided to ensure that the millions of federal dollars expended will be spent equitably. This commentary discusses two key threats to the Precision Medicine Initiative's ability to proceed in a manner consistent with the United States Constitutional requirement that the federal government shall not "deny to any person . . . the equal protection of the laws."3 In short, this commentary sounds two cautionary notes, in order to advance precision medicine equity. First, achieving precision medicine equity will require scientists and clinicians to fulfill their intellectual, moral, and indeed legal duty to work against abusive uses of precision medicine science to advance distorted views of racial group variation. Precision medicine scientists must decisively denounce and distinguish this Initiative from the pseudo-science of eugenics - the immoral and deadly pseudo-science that gave racist and nationalist ideologies what Troy Duster called a "halo of legitimacy" during the first half of the 20th century.4 Second, to combat the social threat to precision medicine, scientists must incorporate a comprehensive, ecological understanding of the fundamental social and environmental determinants of health outcomes in all research. Only then will the Precision Medicine Initiative live up to its potential to improve and indeed transform health care delivery for all patients, regardless of race, color, or national origin.


Assuntos
Eugenia (Ciência) , Genômica , Programas Nacionais de Saúde , Medicina de Precisão , Racismo/prevenção & controle , Genômica/ética , Genômica/organização & administração , Regulamentação Governamental , Equidade em Saúde/ética , Equidade em Saúde/legislação & jurisprudência , Humanos , Programas Nacionais de Saúde/economia , Programas Nacionais de Saúde/ética , Programas Nacionais de Saúde/legislação & jurisprudência , Medicina de Precisão/economia , Medicina de Precisão/ética , Medicina de Precisão/métodos , Medicina de Precisão/tendências , Estados Unidos
14.
Public Health Genomics ; 21(1-2): 77-84, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30522109

RESUMO

AIM: To develop a process for returning medically actionable genomic variants to Latino patients receiving care in a Federally Qualified Health Center. METHODS: Prior to recruitment, researchers met with primary care providers to (1) orient clinicians to the project, (2) establish a process for returning actionable and nonactionable results to participants and providers through the electronic health record, and (3) develop a process for offering clinical decision support for follow-up education and care. A Community Advisory Board was engaged to provide input on recruitment strategies and materials for conveying results to participants. Participants in the Sangre Por Salud (Blood for Health) Biobank with hyperlipidemia or colon polyps represented the pool of potentially eligible participants. RESULTS: A total of 1,621 individuals were invited to participate and 710 agreed to an in- person consenting visit (194 no-showed and 16 declined). Over 12-months, 500 participants were enrolled. Participants were primarily Spanish-speaking (81.6%), female (74.2%), and enrolled because of hyperlipidemia (95.4%). All but 2 participants opted to receive primary (i.e., related to enrollment phenotypes) as well as secondary actionable results. CONCLUSION: Efforts to bring precision medicine to community-based health centers serving minority patients may require multilevel engagement activities to include individuals, providers, health systems, and the community.


Assuntos
Bancos de Espécimes Biológicos/organização & administração , Centros Comunitários de Saúde/organização & administração , Genômica/organização & administração , Hispano-Americanos/genética , Adulto , Idoso , Arizona , Assistência à Saúde/organização & administração , Feminino , Pesquisa em Genética , Disparidades em Assistência à Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Grupos Minoritários , Seleção de Pacientes , Medicina de Precisão/métodos
16.
Yi Chuan ; 40(11): 1039-1043, 2018 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-30465537

RESUMO

Omics data in life and health sciences are of fundamental significance for scientific research and biomedical technology development. However, there is yet to be a platform for biological data management and sharing in China, making it difficult to meet the development needs of biomedical and related fields and consequently leading to severe issues in big data management, sharing and translation. To address these issues, Beijing Institute of Genomics (BIG) of Chinese Academy of Sciences founded the BIG Data Center (BIGD) in 2016, which is dedicated to establish a biological big data management platform and multi-omics databases, with a particular focus on national population healthcare and important strategic biological resources. In this paper, we describe core database resources in BIGD, including GSA (Genome Sequence Archive), GWH (Genome Warehouse), GVM (Genome Variation Map), GEN (Gene Expression Nebulas), MethBank (Methylation Bank), BioCode and Science Wikis. Taken together, all these resources provide a series of services for data deposition, integration and sharing, laying solid foundations for enhancing national biological science data management and further promoting the construction of national bioinformatics center.


Assuntos
Big Data , Genômica , China , Biologia Computacional/instrumentação , Biologia Computacional/organização & administração , Mineração de Dados , Bases de Dados Genéticas , Genômica/instrumentação , Genômica/organização & administração , Humanos
17.
PLoS One ; 13(8): e0201637, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30133459

RESUMO

Collaboration among scientists has a major influence on scientific progress. Such collaboration often results from scientific meetings, where scientists gather to present and discuss their research and to meet potential collaborators. However, most scientific meetings have inherent biases, such as the availability of research funding or the selection bias of professional societies that make it difficult to study the effect of the meeting per se on scientific productivity. To evaluate the effects of scientific meetings on collaboration and progress independent of these biases, we conducted a study of the annual symposia held by the International Milk Genomics Consortium (IMGC) over a 12-year period. In our study, we conducted permutation testing to analyze the effectiveness of the IMGC in facilitating collaboration and productivity in a community of milk scientists who were meeting attendees relative to non-attendees. Using the number of co-authorships on published papers as a measure of collaboration, our analysis revealed that scientists who attended the symposium were associated with more collaboration than were scientists who did not attend. Furthermore, we evaluated the scientific progress of consortium attendees by analyzing publication rate and article impact. We found that IMGC attendees, in addition to being more collaborative, were also more productive and influential than were non-attendees who published in the same field. The results of our study suggest that the annual symposium encouraged interactions among disparate scientists and increased research productivity, exemplifying the positive effect of scientific meetings on both collaboration and progress.


Assuntos
Autoria , Comportamento Cooperativo , Genômica/organização & administração , Animais , Congressos como Assunto , Fator de Impacto de Revistas , Leite
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