RESUMO
Approximately 1 in 2 Japanese people are estimated to be diagnosed with cancer during their lifetime. Cancer still remains the leading cause of death in Japan, therefore the government of Japan has decided to develop a better cancer control policy and launched the Cancer Genomic Medicine (CGM) program. The Ministry of Health, Labour, and Welfare (MHLW) held a consortium at their headquarters with leading academic authorities and the representatives of related organizations to discuss ways to advance CGM in Japan. Based on the report of the consortium, the CGM system under the national health insurance system has gradually been realized. Eleven hospitals were designated in February 2018 as core hospitals for CGM; subsequently, the MHLW built the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) as an institution to aggregate and manage genomic and clinical information on cancer patients, and support appropriate secondary use of the aggregated information to develop research aimed at medical innovation. As the first step in Japan's CGM in routine practice, in June 2019 the MHLW started reimbursement of 2 types of tumor profiling tests for advanced solid cancer patients using the national insurance system. Japan's CGM has swiftly been spreading nationwide with the collaboration of 167 hospitals and patients. The health and research authorities are expected to embody personalized cancer medicine and promote CGM utilizing state-of-the-art technologies.
Assuntos
Genômica/organização & administração , Implementação de Plano de Saúde , Oncologia/organização & administração , Programas Nacionais de Saúde/organização & administração , Neoplasias/terapia , Ensaios Clínicos como Assunto/organização & administração , Aconselhamento Genético/economia , Aconselhamento Genético/organização & administração , Testes Genéticos/economia , Genômica/economia , Genômica/métodos , Humanos , Japão , Oncologia/economia , Oncologia/métodos , Programas Nacionais de Saúde/economia , Neoplasias/diagnóstico , Neoplasias/economia , Neoplasias/genética , Medicina de Precisão/economia , Medicina de Precisão/métodos , Mecanismo de Reembolso , Terapias em Estudo/economiaRESUMO
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 , HumanosAssuntos
Doença Crônica/epidemiologia , Genômica/organização & administração , Promoção da Saúde/organização & administração , Programas de Rastreamento/organização & administração , Administração em Saúde Pública , Neoplasias da Mama/genética , Doenças Cardiovasculares/genética , Doença Crônica/prevenção & controle , Neoplasias do Colo/genética , Neoplasias Colorretais Hereditárias sem Polipose/genética , Prática Clínica Baseada em Evidências/organização & administração , Feminino , Testes Genéticos , Humanos , Hiperlipoproteinemia Tipo II/genética , Recém-Nascido , Triagem Neonatal/organização & administração , Neoplasias Ovarianas/genéticaRESUMO
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 UnidosRESUMO
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 , Hispânico ou Latino/genética , Adulto , Idoso , Arizona , Atenção 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/métodosRESUMO
Personalized management of cardiovascular disorders (CVD), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is selection of the best treatment for an individual patient. It involves the integration of various "omics" technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring therapy. Because CVD involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms, and modeling of personalized benefit of treatment may be helpful for guiding the choice of intervention. Bioinformatics tools are helpful in analyzing and integrating large amounts of data from various sources. Personalized therapy is considered during drug development, including methods of targeted drug delivery and clinical trials. Individualized recommendations consider multiple factors - genetic as well as epigenetic - for patients' risk of heart disease. Examples of personalized treatment are those of chronic myocardial ischemia, heart failure, and hypertension. Similar approaches can be used for the management of atrial fibrillation and hypercholesterolemia, as well as the use of anticoagulants. Personalized management includes pharmacotherapy, surgery, lifestyle modifications, and combinations thereof. Further progress in understanding the pathomechanism of complex cardiovascular diseases and identification of causative factors at the individual patient level will provide opportunities for the development of personalized cardiology. Application of principles of personalized medicine will improve the care of the patients with CVD.
Assuntos
Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/terapia , Biologia Computacional/organização & administração , Medicina de Precisão/métodos , Biomarcadores , Fármacos Cardiovasculares/uso terapêutico , Doenças Cardiovasculares/genética , Terapia Baseada em Transplante de Células e Tecidos/métodos , Predisposição Genética para Doença , Genômica/organização & administração , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Estilo de Vida , Lipídeos/sangue , Lipídeos/genética , Isquemia Miocárdica/genética , Nanotecnologia/métodos , Testes Farmacogenômicos/métodos , Polimorfismo de Nucleotídeo Único , Biologia de Sistemas/organização & administraçãoRESUMO
The overall goal of radiogenomics is the identification of genomic markers that are predictive for the development of adverse effects resulting from cancer treatment with radiation. The principal rationale for a focus on toxicity in radiogenomics is that for many patients treated with radiation, especially individuals diagnosed with early-stage cancers, the survival rates are high, and therefore a substantial number of people will live for a significant period of time beyond treatment. However, many of these patients could suffer from debilitating complications resulting from radiotherapy. Work in radiogenomics has greatly benefited from creation of the Radiogenomics Consortium (RGC) that includes investigators at multiple institutions located in a variety of countries. The common goal of the RGC membership is to share biospecimens and data so as to achieve large-scale studies with increased statistical power to enable identification of relevant genomic markers. A major aim of research in radiogenomics is the development of a predictive instrument to enable identification of people who are at greatest risk for adverse effects resulting from cancer treatment using radiation. It is anticipated that creation of a predictive assay characterized by a high level of sensitivity and specificity will improve precision radiotherapy and assist patients and their physicians to select the optimal treatment for each individual.
Assuntos
Genômica/métodos , Neoplasias/radioterapia , Lesões por Radiação/genética , Marcadores Genéticos , Genômica/organização & administração , Humanos , Neoplasias/genéticaRESUMO
In Latin America (LA), cancer is the second leading cause of death, and little is known about the capacities and needs for the development of research in the field of cancer genomics. In order to evaluate the current capacity for and development of cancer genomics in LA, we collected the available information on genomics, including the number of next-generation sequencing (NGS) platforms, the number of cancer research institutions and research groups, publications in the last 10 years, educational programs, and related national cancer control policies. Currently, there are 221 NGS platforms and 118 research groups in LA developing cancer genomics projects. A total of 272 articles in the field of cancer genetics/genomics were published by authors affiliated to Latin American institutions. Educational programs in genomics are scarce, almost exclusive of graduate programs, and only few are concerning cancer. Only 14 countries have national cancer control plans, but all of them consider secondary prevention strategies for early diagnosis, opportune treatment, and decreasing mortality, where genomic analyses could be implemented. Despite recent advances in introducing knowledge about cancer genomics and its application to LA, the region lacks development of integrated genomic research projects, improved use of NGS platforms, implementation of associated educational programs, and health policies that could have an impact on cancer care.
Assuntos
Atenção à Saúde/normas , Genômica/organização & administração , Neoplasias/genética , Academias e Institutos/estatística & dados numéricos , Educação Médica/estatística & dados numéricos , Genômica/educação , Genômica/normas , Política de Saúde , Humanos , Fator de Impacto de Revistas , América Latina , Avaliação das Necessidades , Publicações/estatística & dados numéricos , Estados UnidosAssuntos
Genômica/tendências , Programas Nacionais de Saúde/tendências , Pesquisa Translacional Biomédica/tendências , Genômica/organização & administração , Humanos , Infecções/genética , Programas Nacionais de Saúde/organização & administração , Neoplasias/genética , Doenças Raras/genética , Pesquisa Translacional Biomédica/organização & administração , Reino UnidoRESUMO
The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterization. Samples were matched at the individual level to clinical data collected at the time of catheterization and stored in the Duke Databank for Cardiovascular Diseases (DDCD). Clinical data included the following: subject demographics (birth date, race, gender, etc.); cardiometabolic history including symptoms; coronary anatomy and cardiac function at catheterization; and fasting chemistry data. Third, as part of the DDCD regular follow-up protocol, yearly evaluations included interim information: vital status (verified via National Death Index search and supplemented by Social Security Death Index search), myocardial infarction (MI), stroke, rehospitalization, coronary revascularization procedures, medication use, and lifestyle habits including smoking. Fourth, samples were used to generate molecular data. CATHGEN offers the opportunity to discover biomarkers and explore mechanisms of cardiovascular disease.
Assuntos
Bancos de Espécimes Biológicos , Doenças Cardiovasculares/genética , Bases de Dados Genéticas , Genômica/métodos , Bancos de Espécimes Biológicos/organização & administração , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/terapia , Perfilação da Expressão Gênica , Interação Gene-Ambiente , Estudos de Associação Genética , Marcadores Genéticos , Predisposição Genética para Doença , Testes Genéticos/métodos , Genômica/organização & administração , Humanos , Propriedade Intelectual , Modelos Organizacionais , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Fatores de Risco , Manejo de Espécimes , Fatores de TempoRESUMO
Large-scale human cancer genomics projects, such as TCGA, generated large genomics data for further study. Exploring and mining these data to obtain meaningful analysis results can help researchers find potential genomics alterations that intervene the development and metastasis of tumors. We developed a web-based gene analysis platform, named TCGA4U, which used statistics methods and models to help translational investigators explore, mine and visualize human cancer genomic characteristic information from the TCGA datasets. Furthermore, through Gene Ontology (GO) annotation and clinical data integration, the genomic data were transformed into biological process, molecular function, cellular component and survival curves to help researchers identify potential driver genes. Clinical researchers without expertise in data analysis will benefit from such a user-friendly genomic analysis platform.
Assuntos
Mineração de Dados/métodos , Bases de Dados Genéticas , Internet/organização & administração , Neoplasias/genética , Pesquisa Translacional Biomédica/organização & administração , Interface Usuário-Computador , Sistemas de Gerenciamento de Base de Dados/organização & administração , Genômica/organização & administração , Humanos , SoftwareRESUMO
CKD affects an estimated 14% of adults in sub-Saharan Africa, but very little research has been done on the cause, progression, and prevention of CKD there. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, the H3Africa Kidney Disease Research Network was established to study prevalent forms of kidney disease in sub-Saharan Africa and increase the capacity for genetics and genomics research. The study is performing comprehensive phenotypic characterization and analyzing environmental and genetic factors from nine clinical centers in four African countries (Ghana, Nigeria, Ethiopia, and Kenya) over a 5-year period. Approximately 4000 participants with specified kidney disease diagnoses and 4000 control participants will be enrolled in the four African countries. In addition, approximately 50 families with hereditary glomerular disease will be enrolled. The study includes both pediatric and adult participants age <1 to 74 years across a broad spectrum of kidney diseases secondary to hypertension-attributed nephropathy, diabetes, HIV infection, sickle cell disease, biopsy-proven glomerular disease, and CKD of unknown origin. Clinical and demographic data with biospecimens are collected to assess clinical, biochemical, and genetic markers of kidney disease. As of March 2015, a total of 3499 patients and controls have been recruited and 1897 had complete entry data for analysis. Slightly more than half (50.2%) of the cohort is female. Initial quality control of clinical data collection and of biosample and DNA analysis is satisfactory, demonstrating that a clinical research infrastructure can be successfully established in Africa. This study will provide clinical, biochemical, and genotypic data that will greatly increase the understanding of CKD in sub-Saharan Africa.
Assuntos
Pesquisa Biomédica/métodos , Genômica/métodos , Nefrologia/métodos , Insuficiência Renal Crônica/genética , Insuficiência Renal Crônica/terapia , Adolescente , Adulto , África Subsaariana/epidemiologia , Idoso , Pesquisa Biomédica/organização & administração , Estudos de Casos e Controles , Criança , Pré-Escolar , Biologia Computacional , Comportamento Cooperativo , Feminino , Predisposição Genética para Doença , Genômica/organização & administração , Hereditariedade , Humanos , Lactente , Cooperação Internacional , Masculino , Mentores , Pessoa de Meia-Idade , Nefrologia/organização & administração , Linhagem , Fenótipo , Prevalência , Prognóstico , Insuficiência Renal Crônica/diagnóstico , Insuficiência Renal Crônica/epidemiologia , Projetos de Pesquisa , Medição de Risco , Fatores de Risco , Adulto JovemRESUMO
Genomic research has rapidly expanded its scope and ambition over the past decade, promoted by both public and private sectors as having the potential to revolutionize clinical medicine. This promissory bioeconomy of genomic research and technology is generated by, and in turn generates, the hopes and expectations shared by investors, researchers and clinicians, patients, and the general public alike. Examinations of such bioeconomies have often focused on the public discourse, media representations, and capital investments that fuel these "regimes of hope," but also crucial are the more intimate contexts of small-scale medical research, and the private hopes, dreams, and disappointments of those involved. Here we examine one local site of production in a university-based clinical research project that sought to identify novel cancer predisposition genes through whole genome sequencing in individuals at high risk for cancer. In-depth interviews with 24 adults who donated samples to the study revealed an ability to shift flexibly between positioning themselves as research participants on the one hand, and as patients or as family members of patients, on the other. Similarly, interviews with members of the research team highlighted the dual nature of their positions as researchers and as clinicians. For both parties, this dual positioning shaped their investment in the project and valuing of its possible outcomes. In their narratives, all parties shifted between these different relational positions as they managed hopes and expectations for the research project. We suggest that this flexibility facilitated study implementation and participation in the face of potential and probable disappointment on one or more fronts, and acted as a key element in the resilience of this local promissory bioeconomy. We conclude that these multiple dimensions of relationality and positionality are inherent and essential in the creation of any complex economy, "bio" or otherwise.
Assuntos
Genômica/organização & administração , Neoplasias/genética , Pesquisadores/psicologia , Doadores de Tecidos/psicologia , Universidades , Adulto , Animais , Feminino , Esperança , Humanos , Entrevistas como Assunto , Conhecimento , Masculino , Pessoa de Meia-Idade , Análise Serial de ProteínasRESUMO
Cystic echinococcosis (CE) is a cosmopolitan disease caused by the dog tapeworm Echinococcus granulosus. The disease is difficult to diagnose, treat, and control and is responsible for considerable human morbidity and mortality globally. There is an urgent need for new diagnostic tests and new drugs for treatment of CE and the development of a vaccine against adult worms of E. granulosus in dogs. We recently presented a draft genomic sequence for the worm comprising 151.6 Mb encoding 11,325 proteins. We undertook an extensive comparative analysis of the E. granulosus transcriptome using representative life stages (protoscoleces, cyst germinal cells and membranes, adult worms, and oncospheres) to explore different aspects of tapeworm biology and parasitism. The genome and transcriptome of E. granulosus provide a unique platform for post-genomic research and to facilitate the development of new, effective treatments and interventions for echinococcosis control.
Assuntos
DNA de Helmintos/genética , Equinococose/parasitologia , Echinococcus granulosus/genética , Genes de Helmintos , Genoma , Aminoácidos/biossíntese , Animais , Anti-Helmínticos/farmacologia , Antígenos de Helmintos/análise , Antígenos de Helmintos/genética , Ácidos e Sais Biliares/fisiologia , China , Doenças do Cão/diagnóstico , Doenças do Cão/tratamento farmacológico , Doenças do Cão/parasitologia , Doenças do Cão/prevenção & controle , Cães , Desenho de Fármacos , Equinococose/diagnóstico , Equinococose/tratamento farmacológico , Equinococose/prevenção & controle , Equinococose/veterinária , Echinococcus granulosus/crescimento & desenvolvimento , Echinococcus granulosus/imunologia , Echinococcus multilocularis/genética , Genômica/organização & administração , Proteínas de Helminto/genética , Proteínas de Helminto/fisiologia , Helmintos/classificação , Helmintos/genética , Interações Hospedeiro-Parasita/genética , Humanos , Terapia de Alvo Molecular , Filogenia , Especificidade da Espécie , Vacinas , ZoonosesAssuntos
Segurança Computacional , Privacidade Genética/organização & administração , Genética Médica/organização & administração , Genética/organização & administração , Genômica/organização & administração , Oncologia/organização & administração , Política Organizacional , Previsões , Agências Internacionais/organização & administração , Sociedades/organização & administraçãoRESUMO
The Victorian Centre for Functional Genomics (VCFG) is an RNAi screening facility housed at the Peter MacCallum Cancer Centre in Melbourne, Australia. The Peter Mac is Australia's largest dedicated Cancer Research Institute, home to a team of over 520 scientists that focus on understanding the genetic risk of cancer, the molecular events regulating cancer growth and dissemination and improving detection through new diagnostic tools (www.petermac.org). Peter Mac is a well recognised technology leader and established the VCFG with a view to enabling researchers Australia and New Zealand-wide access to cutting edge functional genomics technology, infrastructure and expertise. This review documents the technology platforms operated within the VCFG and provides insight into the workflows and analysis pipelines currently in operation.
Assuntos
Genômica/organização & administração , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Neoplasias/genética , Interferência de RNA , Pesquisa Translacional Biomédica/organização & administração , Austrália , Genômica/métodos , Humanos , MicroRNAs , Neoplasias/diagnóstico , Controle de Qualidade , RNA Interferente Pequeno , Transfecção/instrumentação , Transfecção/métodos , Pesquisa Translacional Biomédica/instrumentação , Pesquisa Translacional Biomédica/métodos , Fluxo de TrabalhoRESUMO
The completion of the Human Genome Project has led to a greater understanding of the role of genetics/genomics in the development of all common diseases, which is leading to the routine integration of genetics and genomics into all aspects of health care. This change in practice presents new challenges for health care professionals. This article provides an overview of how genetics/genomics has the potential to improve health care within many different clinical scenarios, and highlights the key issues for nurses working in a variety of settings.
Assuntos
Genética Médica/organização & administração , Genômica/organização & administração , Papel do Profissional de Enfermagem , Processo de Enfermagem/organização & administração , Padrões de Prática em Enfermagem/organização & administração , Medicina de Precisão/enfermagem , Aconselhamento Genético/organização & administração , Genoma Humano , Genômica/educação , Necessidades e Demandas de Serviços de Saúde , Humanos , Neoplasias/genética , Neoplasias/enfermagemRESUMO
Since 2003, genetics and genomics information has led to exciting new diagnostics, prognostics, and treatment options in oncology practice. Profiling of cancers offers providers insight into treatment and prognostic factors. Germline testing provides an individual with information for surveillance or therapy that may help them prevent cancer in their lifetime and options for family members as yet untouched by malignancy. This offers a challenge for oncology nurses and other oncology health care providers to become comfortable with incorporating education about genetics/genomics into their clinical practice and patient education.