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1.
Nursing ; 49(7): 54-60, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31219988

RESUMO

In 2006, the American Nurses Association created a set of essential genetics and genomics (G/G) competencies for all RNs, regardless of academic preparation, practice setting, or specialty. However, more than half of the RNs practicing today received no prelicensure education on these G/G competencies. This study describes the current use of G/G nursing competencies in acute care hospitals and how nurses perceive them.


Assuntos
Competência Clínica/normas , Genética Médica/educação , Genômica/educação , Adulto , Atitude do Pessoal de Saúde , Educação em Enfermagem , Humanos , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem no Hospital/psicologia , Recursos Humanos de Enfermagem no Hospital/estatística & dados numéricos , Adulto Jovem
7.
Nat Genet ; 51(4): 579, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30926967
8.
J Hum Genet ; 64(5): 397-407, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30842598

RESUMO

Japan has been proactively promoting genomic medicine initiatives as national policy. With rapid pace developments in genomic medicine, an increasing number of patients and their families will be able to access genomic information. In such circumstances, a consideration of public interests and an assessment of the general knowledge about genomic research and genomic medicine are becoming imperative. This study aims to elucidate public attitude to the handling of genetic information during research and general medicine. The results of the questionnaire survey of 3000 people have revealed the following points: (1) older participants were likely to have better knowledge of genetic information than younger ones; (2) people with better understanding of genetic information tended to care more strongly about technical issues; (3) respondents with higher literacy regarding genetic issues favored stricter rules for handling of genetic information compared to handling of ordinary medical data; and (4) research community and funding agencies should preserve and develop public trust in genomic research and medicine. These results suggest the importance of education for younger people, the need of different types of explanation and transparency aimed at individuals with different levels of knowledge about the genome, and indicate the adequacy of the current governmental guidelines.


Assuntos
Pesquisa Biomédica , Genética Médica , Conhecimento , Feminino , Humanos , Japão , Masculino
9.
Mol Genet Genomic Med ; 7(2): e00606, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30816028

RESUMO

Attention has been focused on the field of genetics and genomics in Iran in recent years and some efforts have been enforced and implemented. However, they are totally not adequate, considering the advances in medical genetics and genomics in the past two decades around the world. Overall, considering the lack of medical genetics residency programs in the Iranian health education system, big demand due to high consanguinity and intraethnic marriages, there is a lag in genetic services and necessity to an immediate response to fill this big gap in Iran. As clarified in the National constitution fundamental law and re-emphasized in the 6th National Development Plan, the Iranian government authority is in charge of providing the standard level of health including genetic services to all Iranian individuals who are in need.


Assuntos
Utilização de Instalações e Serviços , Doenças Genéticas Inatas/diagnóstico , Testes Genéticos/estatística & dados numéricos , Genética Médica/estatística & dados numéricos , Diagnóstico Pré-Natal/estatística & dados numéricos , Análise de Sequência de DNA/estatística & dados numéricos , Bases de Dados Genéticas , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/genética , Testes Genéticos/economia , Testes Genéticos/legislação & jurisprudência , Genética Médica/economia , Genética Médica/legislação & jurisprudência , Genética Médica/organização & administração , Humanos , Irã (Geográfico) , Diagnóstico Pré-Natal/economia , Análise de Sequência de DNA/economia
11.
Mol Genet Genomic Med ; 7(1): e00599, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30786327

RESUMO

To help fill the knowledge gap in human genetics and genomics, an International Summit (IS) in Human Genetics and Genomics was conceived and organized by the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) as a 5-year initiative, from 2016 to 2020. In its first 3 years, 71 professionals from 34 countries received training.


Assuntos
Congressos como Assunto , Países em Desenvolvimento , Genética Médica/estatística & dados numéricos , Genômica , Genética Médica/economia , Genética Médica/organização & administração
12.
Genome Med ; 11(1): 9, 2019 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-30795816

RESUMO

Genomic medicine has considerable potential to provide novel diagnostic and therapeutic solutions for patients who have molecularly complex diseases and who are not responding to existing therapies. To bridge the gap between genomic medicine and clinical practice, integration of various data types, resources, and joint international initiatives will be required.


Assuntos
Terapia Genética/métodos , Genética Médica/métodos , Genômica/métodos , Pesquisa Médica Translacional/métodos , Humanos
15.
Mol Genet Genomic Med ; 7(4): e00571, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30724040

RESUMO

In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics.


Assuntos
Genética Médica , Medicina , Argentina , Genômica
16.
BMC Med Educ ; 19(1): 19, 2019 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-30635068

RESUMO

BACKGROUND: Advances in genetics and genomics require that healthcare professionals manage and incorporate new technologies into the appropriate clinical practice. The aim of this study was to identify core competencies in genetics for non-geneticists, both physicians and non-physicians. METHODS: We performed a literature review by searching MEDLINE, SCOPUS, and ISI Web of Science databases to identify studies reporting competencies in genetics in terms of knowledge, attitudes and abilities for non-genetic healthcare professionals. Furthermore, we conducted a survey according to a modified Delphi method, involving genetics experts to evaluate the competencies to be included as items of the curricula. RESULTS: Three eligible documents were identified and 3 Delphi rounds were carried out to reach a consensus on the competencies to be incorporated in the curricula. With reference to the curriculum for physicians, 19 items were included in the knowledge domain, 3 in the attitudes and 10 in the abilities domain. We developed two different curricula for non-physicians: one specific for those working in genetic services (20 items in the knowledge domain, 3 in the attitudes and 12 in the abilities) and one for those not working in genetic services (10 items in the knowledge domain, 3 in the attitudes and 2 in the abilities). CONCLUSIONS: We developed 3 curricula in genetics addressed to non-genetic healthcare professionals. They differ in the "knowledge" and "abilities", while the "attitudes" are the same for all the healthcare professionals. Although some concerns about the generalizability of the findings could arise due to the Italian perspective, we envisage the curricula can be used for genetics educational programs in several contexts.


Assuntos
Técnica Delfos , Genética Médica/educação , Pessoal de Saúde , Competência Profissional/normas , Currículo , Genética Médica/normas , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Guias de Prática Clínica como Assunto
18.
Genet Med ; 21(4): 772-789, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30659246

RESUMO

PURPOSE: Glycogen storage disease (GSD) types VI and IX are rare diseases of variable clinical severity affecting primarily the liver. GSD VI is caused by deficient activity of hepatic glycogen phosphorylase, an enzyme encoded by the PYGL gene. GSD IX is caused by deficient activity of phosphorylase kinase (PhK), the enzyme subunits of which are encoded by various genes: ɑ (PHKA1, PHKA2), ß (PHKB), É£ (PHKG1, PHKG2), and δ (CALM1, CALM2, CALM3). Glycogen storage disease types VI and IX have a wide spectrum of clinical manifestations and often cannot be distinguished from each other, or from other liver GSDs, on clinical presentation alone. Individuals with GSDs VI and IX can present with hepatomegaly with elevated serum transaminases, ketotic hypoglycemia, hyperlipidemia, and poor growth. This guideline for the management of GSDs VI and IX was developed as an educational resource for health-care providers to facilitate prompt and accurate diagnosis and appropriate management of patients. METHODS: A national group of experts in various aspects of GSDs VI and IX met to review the limited evidence base from the scientific literature and provided their expert opinions. Consensus was developed in each area of diagnosis, treatment, and management. Evidence bases for these rare disorders are largely based on expert opinion, particularly when targeted therapeutics that have to clear the US Food and Drug Administration (FDA) remain unavailable. RESULTS: This management guideline specifically addresses evaluation and diagnosis across multiple organ systems involved in GSDs VI and IX. Conditions to consider in a differential diagnosis stemming from presenting features and diagnostic algorithms are discussed. Aspects of diagnostic evaluation and nutritional and medical management, including care coordination, genetic counseling, and prenatal diagnosis are addressed. CONCLUSION: A guideline that will facilitate the accurate diagnosis and optimal management of patients with GSDs VI and IX was developed. This guideline will help health-care providers recognize patients with GSDs VI and IX, expedite diagnosis, and minimize adverse sequelae from delayed diagnosis and inappropriate management. It will also help identify gaps in scientific knowledge that exist today and suggest future studies.


Assuntos
Genômica , Doença de Depósito de Glicogênio/genética , Hipoglicemia/genética , Fosforilase Quinase/genética , Gerenciamento Clínico , Genética Médica/tendências , Glicogênio/genética , Glicogênio/metabolismo , Doença de Depósito de Glicogênio/diagnóstico , Doença de Depósito de Glicogênio/epidemiologia , Doença de Depósito de Glicogênio/terapia , Guias como Assunto , Humanos , Hipoglicemia/metabolismo , Hipoglicemia/terapia , Fígado/metabolismo , Fígado/patologia , Mutação , Fosforilase Quinase/química , Estados Unidos/epidemiologia
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