RESUMEN
Global investments in health information technology (HIT) in the form of electronic health record systems represent important new strategies to improve the quality and efficiency of health care. These potential benefits of HIT will not be achieved without direct attention to the use of health care information for clinical research purposes. To support clinical research effectively, the systems put in place in the next few years must implement appropriate interoperability, information-sharing policies, and infrastructure that can liberate health data from clinical records.
Asunto(s)
Investigación Biomédica , Atención a la Salud , Informática Médica , Registros Electrónicos de Salud , Política de Salud , Innovación OrganizacionalRESUMEN
A variety of efforts are underway at national, state, regional, and local levels to enhance the performance of programs for early detection of inherited diseases and conditions of newborn infants. Newborn screening programs serve a vital purpose in identifying nonsymptomatic clinical conditions and enabling early intervention strategies that lessen morbidity and mortality. Currently, the programs of most intense focus are early hearing detection and intervention, using physiological techniques for audiology screening and use of newborn dried blood spots for detection of metabolites or proteins representing inherited disorders. One of the primary challenges to effective newborn screening programs to date has been the inability to provide information in a timely and easily accessible way to a variety of users. Other challenging communication issues being faced include the complexity introduced by the diversity of conditions for which testing is conducted and laboratory methods being used by each state's screening programs, lack of an electronic information infrastructure to facilitate information exchange, and variation in policies that enable access to information while protecting patient privacy and confidentiality. In this study, we address steps being taken to understand these challenges, outline progress made to date to overcome them, and provide examples of how electronic health information exchange will enhance the utility of newborn screening. It is likely that future advances in science and technology will bring many more opportunities to prevent and preempt disabilities among children through early detection programs. To take their advantage, effective communication strategies are needed among the public health, primary care practice, referral/specialty service, and consumer advocacy communities to provide continuity of information required for medical decision-making throughout prenatal, newborn, and early childhood periods of patient care.
Asunto(s)
Continuidad de la Atención al Paciente , Registros Electrónicos de Salud , Tamizaje Neonatal/normas , Adolescente , Adulto , Anemia de Células Falciformes/diagnóstico , Anemia de Células Falciformes/terapia , Femenino , Humanos , Recién Nacido , Masculino , Fenilcetonuria Materna/diagnóstico , Fenilcetonuria Materna/terapia , Embarazo , Garantía de la Calidad de Atención de SaludRESUMEN
The tools and knowledge base for personalized medicine practices are being developed as a major transformation is underway in our health care system. Although the foundation supporting the scientific and technological applications that enable individualized approaches in health care continues to be framed, an uncertain health care delivery landscape lies ahead, driven by economic, quality-of-care, and other policy considerations. There are commonalities in the needs and the opportunities for personalized medicine and health care system change, and these 2 facets can mutually inform one another. Here, we examine this interface in the dimensions of innovation and costs, health information technology, evidence development and comparative effectiveness, clinical data standards, consumer tools, and patient safety and public health. Indeed, personalized medicine must offer solutions for broader health priorities if it is to achieve its potential impact.
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Reforma de la Atención de Salud , Medicina de Precisión , Política de Salud , Humanos , Calidad de la Atención de SaludRESUMEN
BACKGROUND: Advances in technology and the scientific understanding of disease processes are presenting new opportunities to improve health through individualized approaches to patient management referred to as personalized medicine. Future health care strategies that deploy genomic technologies and molecular therapies will bring opportunities to prevent, predict, and pre-empt disease processes but will be dependent on knowledge management capabilities for health care providers that are not currently available. A key cornerstone to the potential application of this knowledge will be effective use of electronic health records. In particular, appropriate clinical use of genomic test results and molecularly-targeted therapies present important challenges in patient management that can be effectively addressed using electronic clinical decision support technologies. DISCUSSION: Approaches to shaping future health information needs for personalized medicine were undertaken by a work group of the American Health Information Community. A needs assessment for clinical decision support in electronic health record systems to support personalized medical practices was conducted to guide health future development activities. Further, a suggested action plan was developed for government, researchers and research institutions, developers of electronic information tools (including clinical guidelines, and quality measures), and standards development organizations to meet the needs for personalized approaches to medical practice. In this article, we focus these activities on stakeholder organizations as an operational framework to help identify and coordinate needs and opportunities for clinical decision support tools to enable personalized medicine. SUMMARY: This perspective addresses conceptual approaches that can be undertaken to develop and apply clinical decision support in electronic health record systems to achieve personalized medical care. In addition, to represent meaningful benefits to personalized decision-making, a comparison of current and future applications of clinical decision support to enable individualized medical treatment plans is presented. If clinical decision support tools are to impact outcomes in a clear and positive manner, their development and deployment must therefore consider the needs of the providers, including specific practice needs, information workflow, and practice environment.
Asunto(s)
Sistemas de Apoyo a Decisiones Clínicas , Gestión de la Información/tendencias , Sistemas de Registros Médicos Computarizados/tendencias , Administración de la Práctica Médica/organización & administración , Medicina de Precisión/tendencias , Humanos , Administración de la Práctica Médica/tendenciasRESUMEN
The increasing availability of personal genomic tests has led to discussions about the validity and utility of such tests and the balance of benefits and harms. A multidisciplinary workshop was convened by the National Institutes of Health and the Centers for Disease Control and Prevention to review the scientific foundation for using personal genomics in risk assessment and disease prevention and to develop recommendations for targeted research. The clinical validity and utility of personal genomics is a moving target with rapidly developing discoveries but little translation research to close the gap between discoveries and health impact. Workshop participants made recommendations in five domains: (1) developing and applying scientific standards for assessing personal genomic tests; (2) developing and applying a multidisciplinary research agenda, including observational studies and clinical trials to fill knowledge gaps in clinical validity and utility; (3) enhancing credible knowledge synthesis and information dissemination to clinicians and consumers; (4) linking scientific findings to evidence-based recommendations for use of personal genomics; and (5) assessing how the concept of personal utility can affect health benefits, costs, and risks by developing appropriate metrics for evaluation. To fulfill the promise of personal genomics, a rigorous multidisciplinary research agenda is needed.
Asunto(s)
Genómica/métodos , Difusión de la Información/métodos , Humanos , National Institutes of Health (U.S.) , Atención Individual de Salud/métodos , Estados UnidosRESUMEN
Remarkable advances in the fundamental knowledge about the biological basis of disease and technical advances in methods to assess genomic information have led the health care system to the threshold of personalized medicine. It is now feasible to consider strategic application of genomic information to guide patient management by being predictive, preemptive, and preventive, and enabling patient participation in medical decisions. Early evidence of this transition has some hallmarks of disruptive innovation to existing health care practices. Presented here is an examination of the changes underway to enable this new concept in health care in the United States, to improve precision and quality of care through innovations aimed at individualized approaches to medical decision making. A broad range of public policy positions will need to be considered for the health care delivery enterprise to accommodate the promise of this new science and technology for the benefit of patients.
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Atención a la Salud , Política de Salud , Informática Médica , Medicina de Precisión/métodos , Medicina de Precisión/tendencias , Toma de Decisiones , Atención a la Salud/legislación & jurisprudencia , Atención a la Salud/métodos , Atención a la Salud/tendencias , Estudio de Asociación del Genoma Completo/métodos , Política de Salud/legislación & jurisprudencia , Política de Salud/tendencias , Humanos , Informática Médica/legislación & jurisprudencia , Informática Médica/métodos , Informática Médica/tendencias , Participación del Paciente , Estados UnidosRESUMEN
The Personalized Health Care Workgroup of the American Health Information Community was formed to foster a broad, community-based approach to facilitate the incorporation of interoperable, clinically useful, genetic/genomic information and analytical tools into electronic health records, to support clinical decision-making. The Personalized Health Care Workgroup has developed a series of use cases that outline the informational needs of multiple stakeholders (eg, patients, clinicians, organizations, and systems) and describe the information systems necessary to connect these stakeholders at multiple levels. These use case scenarios offer a guide for standardized data elements and architecture that enable interoperability (content sharing) among different formats of patient electronic health records.
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Servicios de Salud del Niño/legislación & jurisprudencia , Servicios de Salud Comunitaria/legislación & jurisprudencia , Información de Salud al Consumidor/legislación & jurisprudencia , Electrónica Médica/instrumentación , Atención Dirigida al Paciente/legislación & jurisprudencia , Pediatría/legislación & jurisprudencia , Niño , Servicios de Salud del Niño/organización & administración , Servicios de Salud Comunitaria/organización & administración , Conducta Cooperativa , Humanos , Relaciones Interprofesionales , Atención Dirigida al Paciente/organización & administración , Estados UnidosRESUMEN
On the basis of discussions with representatives from all sectors of the cancer research community, the National Cancer Institute (NCI) recognizes the immense opportunities to apply proteomics technologies to further cancer research. Validated and well characterized affinity capture reagents (e.g. antibodies, aptamers, and affibodies) will play a key role in proteomics research platforms for the prevention, early detection, treatment, and monitoring of cancer. To discuss ways to develop new resources and optimize current opportunities in this area, the NCI convened the "Proteomic Technologies Reagents Resource Workshop" in Chicago, IL on December 12-13, 2005. The workshop brought together leading scientists in proteomics research to discuss model systems for evaluating and delivering resources for reagents to support MS and affinity capture platforms. Speakers discussed issues and identified action items related to an overall vision for and proposed models for a shared proteomics reagents resource, applications of affinity capture methods in cancer research, quality control and validation of affinity capture reagents, considerations for target selection, and construction of a reagents database. The meeting also featured presentations and discussion from leading private sector investigators on state-of-the-art technologies and capabilities to meet the user community's needs. This workshop was developed as a component of the NCI's Clinical Proteomics Technologies Initiative for Cancer, a coordinated initiative that includes the establishment of reagent resources for the scientific community. This workshop report explores various approaches to develop a framework that will most effectively fulfill the needs of the NCI and the cancer research community.
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Proteínas de Neoplasias/análisis , Neoplasias/química , Péptidos/análisis , Investigación Biomédica , Humanos , Indicadores y Reactivos , Proteínas de Neoplasias/aislamiento & purificación , Péptidos/aislamiento & purificación , Biosíntesis de Proteínas , Reproducibilidad de los ResultadosRESUMEN
This review assesses the effect that mouse embryonic stem (ES) cells have had on biomedical research during the 20 years that followed their isolation in 1981. Notable scientific discoveries enabled by these cell lines--including insights into cell cycle regulation, spatial and temporal relationships during development, and the roles of transcription factors and homeobox genes in developmental pathways--are discussed. The acceleration of basic discovery of gene function and the genetic basis of disease using a breakthrough technology (homologous recombination between modified gene constructs and the ES cell genome) became the principal enabling method to establish transgenic laboratory animals with single targeted genetic change. This review also examines the widespread influence of mouse ES cells as an enabling technology by highlighting their effect on drug development paradigms, directed differentiation to treat specific diseases, nuclear transfer protocols used in cloning, and establishment of methodologies for isolating non-rodent ES cells. This review concludes with a brief analysis of the most influential mouse ES cell lines of the first 20 years as viewed within the twin contexts of human disease application and contributions to the primary literature.