Genética
Uso responsável dos escores de risco poligênico na prática clínica: potenciais benefícios, riscos e falhas.
17 Nov, 2021 | 12:47h
Comentário no Twitter
PRS scores are moving closer to widespread clinical use.
In our latest Perspective, a panel of experts in genetics, law, and ethics discuss recent advances and potential benefits, risks, and gaps. @ICDAbio @cristenw @minouye271 @umichCVC @Cambridge_Unihttps://t.co/ZBvBGy4XPr— Nature Medicine (@NatureMedicine) November 16, 2021
Documento de consenso IDSA/ASM | Aplicações clínicas e de prevenção de infecção da genotipagem do SARS-CoV-2.
16 Nov, 2021 | 12:48hComunicado de imprensa: New review article outlines potential of SARS-CoV-2 genetic sequencing in patient care – American Society for Microbiology
Sequenciamento genômico completo pode melhorar o diagnóstico de doenças raras e encurtar a jornada diagnóstica para os pacientes.
11 Nov, 2021 | 16:13hComunicado de imprensa: Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients – Queen Mary University of London
Estudo original: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report – New England Journal of Medicine
Conteúdos relacionados:
Review: Genome sequencing as a diagnostic test.
Um proeminente virologista alerta que a nova pílula contra COVID-19 pode gerar perigosas mutações no vírus. Outros não veem com tanto alarde.
10 Nov, 2021 | 12:47hPonto de vista original: Supercharging New Viral Variants: The Dangers Of Molnupiravir (Part 1) – Forbes
Conteúdos relacionados:
The U.K. approves Merck’s COVID-19 antiviral pill, calling it a world first.
Merck to allow other nations to produce new COVID-19 antiviral.
Video: Merck’s Covid pill could transform treatment. Here’s how it works.
How antiviral pill Molnupiravir shot ahead in the COVID drug hunt.
What we know — and don’t know — about Merck’s new Covid-19 pill.
Merck’s Covid-19 pill is great news but may not be a game-changer.
Video | A Pill For COVID? A Doctor Explains Molnupiravir.
Revisão | Sequenciamento genômico como teste diagnóstico.
28 Out, 2021 | 15:50hGenome sequencing as a diagnostic test – Canadian Medical Association Journal
Opinião | É preciso fundamentar as suposições sobre terapia gênica – “Pesquisadores, clínicos e pacientes devem equilibrar a promessa dessa disciplina com sua realidade.”
27 Out, 2021 | 12:28hWe Need to Ground Truth Assumptions about Gene Therapy – Nature
Teste genético no diagnóstico de doença renal crônica: recomendações para a prática clínica.
8 Out, 2021 | 11:36h
Comentário no Twitter
The diagnostic yield of genome sequencing in patients with chronic kidney disease is about 30% in children and 15-20% in adults. Should it be performed in clinical practice? @knoers and coauthors provide an informative review and recommendations. https://t.co/Pzwl0ztTLU pic.twitter.com/tWbko9mOyK
— Muin J. Khoury (@MuinJKhoury) July 23, 2021
Estudo randomizado | Efeito do sequenciamento total do genoma na abordagem clínica de crianças agudamente doentes com suspeita de doença genética.
1 Out, 2021 | 18:34h
Comentários no Twitter
This @JAMAPediatrics randomized clinical trial of acutely ill infants showed that access to whole genome sequencing doubled the proportion of patients with a precision diagnosis and a change of clinical management. https://t.co/yykog2UGLT pic.twitter.com/Gd7iuuUWII
— Muin J. Khoury (@MuinJKhoury) September 27, 2021
New study found two-times more infants in the ICU get a diagnosis and precision care when they get genomes. First-line genomes may reduce healthcare disparities by providing equitable access to dx https://t.co/FOO82Mds7D pic.twitter.com/BTb5AwsVHE
— JAMA Pediatrics (@JAMAPediatrics) September 27, 2021
Revisão | A próxima fase da vigilância do SARS-CoV-2: epidemiologia molecular em tempo real.
14 Set, 2021 | 14:26hThe next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology – Nature Medicine
Comentário no Twitter
Important paper. Monitoring virus evolution and assessing variants is critical to guide the response.
Science, collaboration, analyses, sharing, discussion, action, repeat
Proud @WHO provided technical and financial support for it. #COVID19 https://t.co/M7v8dmIy6q https://t.co/j1VOgBhw6Y
— Maria Van Kerkhove (@mvankerkhove) September 10, 2021
Diretriz Científica da AHA | Teste genético para doenças cardiovasculares hereditárias em pacientes pediátricos.
6 Set, 2021 | 16:06hComunicado de imprensa: Genetic testing in children for heart disorders should be family-centered, include counseling – American Heart Association
Comentário no Twitter
Just out @Circ_Gen Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement: American Heart Association! Fantastic leadership @APLandstrom Honored to be part of it @GenPrecisionMed @AHA_Research #CardioTwitter https://t.co/zEc9tDYAeC pic.twitter.com/49RAkuYCZG
— Prof Chris Semsarian (@CSHeartResearch) August 20, 2021