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3.
PLoS One ; 15(6): e0235001, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32559245

RESUMO

Effective adoption of genetics in clinical practice requires the support of and interaction between the different partners of healthcare system; healthcare professionals (HCPs) and patients. The study aimed to assess and compare the knowledge, factors affecting the knowledge, and concerns of HCPs and patients regarding genetic-related issues such as lack of knowledge about genetics and genetic conditions, awareness of the importance of genetics in clinical practice and genetic services and resources deficits. A cross sectional study was conducted in different areas of Jordan using a convenient sampling approach. An English questionnaire was self-administered to HCPs. Face-to-face interviews were conducted with patients in Arabic by trained researcher. A total of 1000 HCPs and 1448 patients were recruited. There was a significant difference (p<0.001) in the knowledge between HCPs and patients. Among HCPs, physicians (OR = 2.278, 95%CI = 1.410-3.680, p = 0.001) and pharmacists (OR = 2.163, 95%CI = 1.362-3.436, p = 0.001) were more knowledgeable than nurses. In addition, females were more knowledgeable than males (OR = 1.717, 95%CI = 1.203-2.451, p = 0.003). Among patients, participants who had a bachelor degree (OR = 1.579, 95%CI = 1.231-2.025, p<0.001) were more knowledgeable compared to those who only had school education. HCPs appeared to have more concerns than patients (p<0.001) regarding all genetic-related issues. These findings suggested a positive association between education and genetic knowledge as well as concerns; as HCPs were more knowledgeable and concerned than patients. Appropriate integration and expansion of basic genetic knowledge courses and clinical genetic training in the curriculum should be adopted to prepare HCPs to enhance the integration of genetic information in clinical settings.


Assuntos
Serviços em Genética , Genética Médica , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde/psicologia , Pacientes/psicologia , Adulto , Feminino , Letramento em Saúde/estatística & dados numéricos , Pessoal de Saúde/estatística & dados numéricos , Humanos , Jordânia , Masculino , Pessoa de Meia-Idade , Pacientes/estatística & dados numéricos
8.
Nature ; 581(7809): 444-451, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32461652

RESUMO

Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide variants (SNVs)5. However, there are no reference maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and complex landscape of 433,371 SVs, from which we estimate that SVs are responsible for 25-29% of all rare protein-truncating events per genome. We found strong correlations between natural selection against damaging SNVs and rare SVs that disrupt or duplicate protein-coding sequence, which suggests that genes that are highly intolerant to loss-of-function are also sensitive to increased dosage6. We also uncovered modest selection against noncoding SVs in cis-regulatory elements, although selection against protein-truncating SVs was stronger than all noncoding effects. Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate that 0.13% of individuals may carry an SV that meets the existing criteria for clinically important incidental findings7. This SV resource is freely distributed via the gnomAD browser8 and will have broad utility in population genetics, disease-association studies, and diagnostic screening.


Assuntos
Doença/genética , Variação Genética , Genética Médica/normas , Genética Populacional/normas , Genoma Humano/genética , Grupos de Populações Continentais/genética , Feminino , Testes Genéticos , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Polimorfismo de Nucleotídeo Único/genética , Padrões de Referência , Seleção Genética , Sequenciamento Completo do Genoma
9.
Am J Med Genet A ; 182(6): 1302-1308, 2020 06.
Artigo em Inglês | MEDLINE | ID: covidwho-108928

RESUMO

In the midst of the COVID-19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. This publication is designed to offer ideas and resources for quickly transitioning our education to meet the current demands in the time of a pandemic. Not only will this allow us to continue our strong history of education, it will enhance our strong commitment to using modern educational techniques and tools to address the genetics workforce issues that have defined the recent past. We have the opportunity to aggressively educate for trainees that now have the capacity to learn, and to lead the way in showing how the genetics community rallies together no matter the challenge.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/epidemiologia , Educação a Distância/organização & administração , Educação de Pós-Graduação em Medicina/organização & administração , Genética Médica/educação , Pandemias , Pneumonia Viral/epidemiologia , Recursos Audiovisuais/provisão & distribução , Contenção de Riscos Biológicos/métodos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/psicologia , Infecções por Coronavirus/transmissão , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Pneumonia Viral/diagnóstico , Pneumonia Viral/psicologia , Pneumonia Viral/transmissão , Saúde Pública/métodos , Estudantes de Medicina/psicologia , Telemedicina/métodos
11.
Am J Hum Genet ; 106(5): 611-622, 2020 05 07.
Artigo em Inglês | MEDLINE | ID: mdl-32275883

RESUMO

Population-scale biobanks that combine genetic data and high-dimensional phenotyping for a large number of participants provide an exciting opportunity to perform genome-wide association studies (GWAS) to identify genetic variants associated with diverse quantitative traits and diseases. A major challenge for GWAS in population biobanks is ascertaining disease cases from heterogeneous data sources such as hospital records, digital questionnaire responses, or interviews. In this study, we use genetic parameters, including genetic correlation, to evaluate whether GWAS performed using cases in the UK Biobank ascertained from hospital records, questionnaire responses, and family history of disease implicate similar disease genetics across a range of effect sizes. We find that hospital record and questionnaire GWAS largely identify similar genetic effects for many complex phenotypes and that combining together both phenotyping methods improves power to detect genetic associations. We also show that family history GWAS using cases ascertained on family history of disease agrees with combined hospital record and questionnaire GWAS and that family history GWAS has better power to detect genetic associations for some phenotypes. Overall, this work demonstrates that digital phenotyping and unstructured phenotype data can be combined with structured data such as hospital records to identify cases for GWAS in biobanks and improve the ability of such studies to identify genetic associations.


Assuntos
Doença/genética , Estudo de Associação Genômica Ampla , Fenótipo , Asma/genética , Bases de Dados Factuais , Feminino , Genética Médica , Genótipo , Humanos , Masculino , Neoplasias/genética , Reino Unido
12.
PLoS Genet ; 16(4): e1008662, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32310939

RESUMO

African Americans (AAs) are disproportionately affected by metabolic diseases and adverse drug events, with limited publicly available genomic and transcriptomic data to advance the knowledge of the molecular underpinnings or genetic associations to these diseases or drug response phenotypes. To fill this gap, we obtained 60 primary hepatocyte cultures from AA liver donors for genome-wide mapping of expression quantitative trait loci (eQTL) using LAMatrix. We identified 277 eGenes and 19,770 eQTLs, of which 67 eGenes and 7,415 eQTLs are not observed in the Genotype-Tissue Expression Project (GTEx) liver eQTL analysis. Of the eGenes found in GTEx only 25 share the same lead eQTL. These AA-specific eQTLs are less correlated to GTEx eQTLs. in effect sizes and have larger Fst values compared to eQTLs found in both cohorts (overlapping eQTLs). We assessed the overlap between GWAS variants and their tagging variants with AA hepatocyte eQTLs and demonstrated that AA hepatocyte eQTLs can decrease the number of potential causal variants at GWAS loci. Additionally, we identified 75,002 exon QTLs of which 48.8% are not eQTLs in AA hepatocytes. Our analysis provides the first comprehensive characterization of AA hepatocyte eQTLs and highlights the unique discoveries that are made possible due to the increased genetic diversity within the African ancestry genome.


Assuntos
Afro-Americanos/genética , Expressão Gênica/genética , Hepatócitos/metabolismo , Locos de Características Quantitativas/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Processamento Alternativo/genética , Citocromo P-450 CYP3A/genética , Éxons/genética , Feminino , Predisposição Genética para Doença , Genética Médica , Genoma Humano , Estudo de Associação Genômica Ampla , Humanos , Fígado/citologia , Masculino , Proteínas do Tecido Nervoso/genética , Medicina de Precisão
13.
Artigo em Inglês | MEDLINE | ID: mdl-32323908

RESUMO

In the midst of the COVID-19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. This publication is designed to offer ideas and resources for quickly transitioning our education to meet the current demands in the time of a pandemic. Not only will this allow us to continue our strong history of education, it will enhance our strong commitment to using modern educational techniques and tools to address the genetics workforce issues that have defined the recent past. We have the opportunity to aggressively educate for trainees that now have the capacity to learn, and to lead the way in showing how the genetics community rallies together no matter the challenge.


Assuntos
Betacoronavirus/patogenicidade , Infecções por Coronavirus/epidemiologia , Educação a Distância/organização & administração , Educação de Pós-Graduação em Medicina/organização & administração , Genética Médica/educação , Pandemias , Pneumonia Viral/epidemiologia , Recursos Audiovisuais/provisão & distribução , Contenção de Riscos Biológicos/métodos , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/psicologia , Infecções por Coronavirus/transmissão , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Pneumonia Viral/diagnóstico , Pneumonia Viral/psicologia , Pneumonia Viral/transmissão , Saúde Pública/métodos , Estudantes de Medicina/psicologia , Telemedicina/métodos
14.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 219-225, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128736

RESUMO

The development of clinical practice guidelines for medical genetics and genomics specialty is a key step in translating basic and clinical genetic research into evidence-based and precision clinical services. This paper briefly expounds the principles of writing high-quality and trustworthy clinical practice guidelines. According to these principles, the management framework, writing process, review and revision procedures, and application monitoring of medical genetic specialty guidelines are described. Systematic review of relevant literature for evidence applicable to the screening, diagnosis, counseling, treatment and prevention of specific genetic diseases is summarized. Specific requirements for writing and reviewing high-quality professional guidelines for medical genetics are introduced. These principles and requirements can ensure that the evidence-based methods and recommendations in the written guidelines conform to current international standards and have specific clinical purposes, scope of practice and time-tracking mechanism. Implementation of such guidelines can promote the translation of basic and clinical genetic research, promote cooperation of medical genetics and other clinical specialties and coordination of interdisciplinary clinical practice guidelines, and provide effective and safe clinical services for patients and their families.


Assuntos
Genética Médica/normas , Genômica/normas , Guias de Prática Clínica como Assunto , Pesquisa em Genética , Humanos
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 235-242, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128738

RESUMO

Alpha-thalassemia is an autosomal recessive genetic disease as well as a relatively common hemoglobinopathy. Severe alpha-thalassemia (also known as Hb Bart's Hydrops fetalis syndrome) and intermediate alpha-thalassemia (also known as Hb H disease) are among the most common birth defects in southern China. To implement carrier screening and large population prevention program in high incidence areas can significantly reduce the incidence of alpha-thalassemia. This guideline was established by combining the discoveries of basic research, clinical research and guidelines from other countries and the actual data of Chinese population. It has summarized the medical genetics knowledge and key points in the clinical treatment for alpha-thalassemia, and provided suggestions for the clinical diagnosis and standard management of patients.


Assuntos
Hidropisia Fetal/diagnóstico , Hidropisia Fetal/terapia , Guias de Prática Clínica como Assunto , Talassemia alfa/diagnóstico , Talassemia alfa/terapia , China , Genética Médica , Hemoglobinas Anormais , Humanos
16.
Rev. bioét. derecho ; (48): 209-226, mar. 2020.
Artigo em Espanhol | IBECS | ID: ibc-192088

RESUMO

El Proyecto Genoma Humano ha significado un paso trascendental en la historia de la ciencia, especialmente en el ejercicio de la medicina y en el tratamiento del paciente. Sin embargo, este hito histórico también ha repercutido con intensidad en otras áreas de la sociedad, las cuales a la fecha han comenzado a mostrar los impactos en sus diversas esferas. Este trabajo intenta analizar el estado actual de esta nueva realidad bajo el prisma de cada uno de estos agentes mencionados, con especial énfasis en el nuevo concepto de "discriminación genética" que afecta a todo individuo en razón de la información codificada en su ADN


The Human Genome Project has meant a transcendental step in the history of science, especially in the practice of medicine and in patient's treatment. However, this historical milestone has also had an impact on other areas of society, which have begun to show the effects in their various spheres. This paper analyzes the current state of this new reality under the prism of each of these mentioned agents, with special emphasis on the new concept of "genetic discrimination" that affects every individual because of the information encoded in their DNA


El Projecte Genoma Humà ha significat un pas transcendental en la història de la ciència, especialment en l'exercici de la medicina I en el tractament del pacient. No obstant això, aquesta fita històrica també ha repercutit amb intensitat en altres àrees de la societat, les quals a la data han començat a mostrar els impactes en les seves diverses esferes. Aquest treball analitza l'estat actual d'aquesta nova realitat sota el prisma de cadascun d'aquests agents esmentats, amb especial èmfasi en el nou concepte de "discriminació genética" que afecta a tot individu en raó de la informació codificada en el seu ADN


Assuntos
Humanos , Projeto Genoma Humano/ética , Privacidade Genética/ética , Genômica/ética , Projeto Genoma Humano/legislação & jurisprudência , Privacidade Genética/legislação & jurisprudência , Testes Genéticos/legislação & jurisprudência , Genética Médica/classificação , Genética Médica/ética , Achados Incidentais
19.
Genet Med ; 22(2): 441-442, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31578472
20.
Genet Med ; 22(2): 443, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31578473
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