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Genetics

Outcome of patients with an ultralow-risk 70-gene signature in the MINDACT trial.

24 Jan, 2022 | 08:08h | UTC

Outcome of Patients With an Ultralow-Risk 70-Gene Signature in the MINDACT Trial – Journal of Clinical Oncology (link to abstract – $ for full-text)

Related:

70-gene signature as an aid for treatment decisions in early breast cancer: updated results of the phase 3 randomised MINDACT trial with an exploratory analysis by age

70-Gene Signature as an Aid to Treatment Decisions in Early-Stage Breast Cancer – New England Journal of Medicine

 

Commentary on Twitter:

 

M-A: In patients with acute coronary syndrome, a guided approach (i.e., platelet function or genetic testing) to P2Y12 inhibiting therapy may reduce major adverse cardiovascular events without increased risk of bleeding.

21 Jan, 2022 | 09:33h | UTC

Comparative effects of guided vs. potent P2Y12 inhibitor therapy in acute coronary syndrome: a network meta-analysis of 61 898 patients from 15 randomized trials – European Heart Journal (link to abstract – $ for full-text)

Commentary: Another Win for Guided P2Y12 Therapy in ACS: Meta-analysis – TCTMD

 

Commentary on Twitter

 

The emergence, genomic diversity and global spread of SARS-CoV-2.

10 Dec, 2021 | 10:21h | UTC

The emergence, genomic diversity and global spread of SARS-CoV-2 – Nature

 

RCT: 21-Gene assay to inform chemotherapy benefit in node-positive breast cancer.

2 Dec, 2021 | 09:49h | UTC

21-Gene Assay to Inform Chemotherapy Benefit in Node-Positive Breast Cancer – New England Journal of Medicine (link to abstract – $ for full-text)

 

Commentary on Twitter

 

International Consensus Statement on the diagnosis, multidisciplinary management, and lifelong care of individuals with achondroplasia.

28 Nov, 2021 | 21:16h | UTC

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia – Nature Reviews Endocrinology (if the link is paywalled, try this one)

 

Commentary on Twitter

 

Randomized Trial: Conventional in vitro fertilization resulted in a cumulative live-birth rate that was noninferior to live-birth rates with the addition of preimplantation genetic testing for aneuploidy.

28 Nov, 2021 | 21:14h | UTC

Live Birth with or without Preimplantation Genetic Testing for Aneuploidy – New England Journal of Medicine (link to abstract – $ for full-text)

Commentary: New research casts fresh doubt on a common procedure that promises to increase the odds of IVF – STAT

 

Novel gene therapy for hemophilia A leads to sustained expression of clotting factor and reduced bleeding events.

19 Nov, 2021 | 10:25h | UTC

News release: Novel gene therapy for hemophilia a leads to sustained expression of clotting factor and reduced bleeding events – Children’s Hospital of Philadelphia

Original Study: Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A – New England Journal of Medicine

 

Commentary on Twitter

 

Pro-Con Debate: Should all babies have their genome sequenced at birth?

19 Nov, 2021 | 10:19h | UTC

Should all babies have their genome sequenced at birth? – The BMJ

Related:

RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.

Whole genome sequencing may improve the diagnosis of rare diseases and shorten diagnostic journeys for patients.

Review: Genome sequencing as a diagnostic test.

 

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.

17 Nov, 2021 | 08:19h | UTC

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps – Nature Medicine

 

Commentary on Twitter

 

IDSA/ASM Consensus Review Document: Clinical and Infection Prevention Applications of SARS-CoV-2 Genotyping.

16 Nov, 2021 | 08:50h | UTC

Clinical and Infection Prevention Applications of SARS-CoV-2 Genotyping: An IDSA/ASM Consensus Review Document – Clinical Infectious Diseases

News Release: New review article outlines potential of SARS-CoV-2 genetic sequencing in patient care – American Society for Microbiology

 

Whole genome sequencing may improve the diagnosis of rare diseases and shorten diagnostic journeys for patients.

11 Nov, 2021 | 08:46h | UTC

News Release: Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients – Queen Mary University of London

Original Study: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report – New England Journal of Medicine

Related:

RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.

Review: Genome sequencing as a diagnostic test.

 

A prominent virologist warns new COVID-19 pill could unleash dangerous mutants. Others see little cause for alarm.

10 Nov, 2021 | 07:13h | UTC

A prominent virologist warns COVID-19 pill could unleash dangerous mutants. Others see little cause for alarm – Science

Original viewpoint: Supercharging New Viral Variants: The Dangers Of Molnupiravir (Part 1) – Forbes

Related:

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.

[Press release – not published yet] Merck announces oral antiviral Molnupiravir reduced the risk of hospitalization or death by approximately 50 Percent compared to placebo for patients with mild or moderate COVID-19.

Merck’s Covid-19 pill is great news but may not be a game-changer.

Video | A Pill For COVID? A Doctor Explains Molnupiravir.

 

Review: Genome sequencing as a diagnostic test.

28 Oct, 2021 | 09:42h | UTC

Genome sequencing as a diagnostic test – Canadian Medical Association Journal

 

Opinion | We Need to Ground Truth Assumptions about Gene Therapy – “Researchers, practitioners and patients must balance the discipline’s promise with its reality”.

27 Oct, 2021 | 01:21h | UTC

We Need to Ground Truth Assumptions about Gene Therapy – Nature

 

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

7 Oct, 2021 | 10:17h | UTC

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice – Nephrology Dialysis Transplantation

 

Commentary on Twitter

 

RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.

28 Sep, 2021 | 09:05h | UTC

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial – JAMA Pediatrics

 

Commentaries on Twitter

 

Review | The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology.

14 Sep, 2021 | 09:58h | UTC

The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology – Nature Medicine

 

Commentary on Twitter

 

AHA Scientific Statement: Genetic testing for heritable cardiovascular diseases in pediatric patients.

6 Sep, 2021 | 10:33h | UTC

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association – Circulation: Genomic and Precision Medicine

News release: Genetic testing in children for heart disorders should be family-centered, include counseling – American Heart Association

 

Commentary on Twitter

 

Cohort study: Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers.

20 Aug, 2021 | 08:39h | UTC

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study – American Journal of Obstetrics and Gynecology

 

Commentary on Twitter

 

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.

5 Aug, 2021 | 08:33h | UTC

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls – New England Journal of Medicine

Visual abstract: Risdiplam-Treated Infants with Type 1 SMA vs. Historical Controls

 

Review: Tuberous sclerosis complex for the pulmonologist.

5 Aug, 2021 | 08:30h | UTC

Tuberous sclerosis complex for the pulmonologist – European Respiratory Review

 

Large genomic analysis has identified 13 new genomic regions associated with susceptibility and severity to Covid-19.

13 Jul, 2021 | 09:59h | UTC

Mapping the human genetic architecture of COVID-19 – Nature

Commentaries: The quest to find genes that drive severe COVID – Nature AND Gene hunters turn up new clues to help explain why Covid-19 hits some people so hard – STAT AND Large genomic analysis highlights COVID-19 risk factors – Broad Institute of MIT and Harvard AND A new study finds genetic variations in Covid patients that could point to better drug treatments. – The New York Times AND How your DNA may affect whether you get COVID-19 or become gravely ill – ScienceNews

 

WHO issues new recommendations on human genome editing for the advancement of public health.

13 Jul, 2021 | 09:42h | UTC

WHO issues new recommendations on human genome editing for the advancement of public health – World Health Organization

See reports:

Human genome editing: recommendations

Human genome editing: a framework for governance

Commentaries: New Global Recommendations for Human Genome Editing may Improve Use to Cure and Treat Diseases – Health Policy Watch AND WHO should lead on genome-editing policy, advisers say – Nature AND WHO Calls for Global Registry of Human Genome Editing – HealthDay AND Expert reaction to the WHO’s newly published recommendations and governance framework for human genome editing – Science Media Centre

 

Commentary on Twitter (thread – click for more)

 

Review: Advances in the diagnosis and treatment of primary ciliary dyskinesia.

21 Jun, 2021 | 08:27h | UTC

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia: A Review – JAMA Otolaryngology – Head & Neck Surgery (free for a limited period)

 

CDC now calls coronavirus Delta variant a ‘variant of concern’.

17 Jun, 2021 | 09:53h | UTC

CDC now calls coronavirus Delta variant a ‘variant of concern’ – CNN

Guidance: SARS-CoV-2 Variant Classifications and Definitions – Centers for Disease Control and Prevention

 

Commentary on Twitter

 

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