Genetics
Opinion | “The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice”.
26 Jan, 2022 | 01:52h | UTCCommentary: ‘Unproven and unethical’: experts warn against genetic embryo tests – The Guardian
Review: Genotypic and phenotypic characteristics of hereditary colorectal cancer.
26 Jan, 2022 | 01:16h | UTCGenotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer – Annals of Coloproctology
M-A: BRCA1 and BRCA2 pathogenic variants and prostate cancer risk.
25 Jan, 2022 | 09:01h | UTC
Review: Prostate cancer risk in men of differing genetic ancestry and approaches to disease screening and management in these groups.
25 Jan, 2022 | 08:59h | UTC
Outcome of patients with an ultralow-risk 70-gene signature in the MINDACT trial.
24 Jan, 2022 | 08:08h | UTCOutcome of Patients With an Ultralow-Risk 70-Gene Signature in the MINDACT Trial – Journal of Clinical Oncology (link to abstract – $ for full-text)
Related:
Commentary on Twitter:
In MINDACT, 15% of the pts (n=1000) had an ultra-low 70-gene signature. Although some had tumors >2 cm (20%) & were LN+ (20%), prognosis was outstanding
8-year DMFI 97%
8-year BCSS 99.6%Most of these patients received adj treatment. Did they need it?https://t.co/V9SH2StuQE
— Paolo Tarantino (@PTarantinoMD) January 22, 2022
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 | UTCComparative 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
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: read more in EHJ!https://t.co/oAehSfPVdt#cardiotwitter @ESC_Journals @escardio pic.twitter.com/AEuH7V6IkR
— EHJ Editor-in-Chief (@ehj_ed) December 23, 2021
The emergence, genomic diversity and global spread of SARS-CoV-2.
10 Dec, 2021 | 10:21h | UTCThe 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 | UTC21-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
Among postmenopausal women with HR–positive, HER2-negative breast cancer, 1-3 positive lymph nodes, and a 21-gene recurrence score of 25 or lower, 5-year invasive disease–free survival was similar whether they received endocrine or chemoendocrine therapy. https://t.co/aZLXBvSHHl pic.twitter.com/EBVnMkGHx4
— NEJM (@NEJM) December 2, 2021
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 | UTCLive 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
International Consensus Statement on the diagnosis, multidisciplinary management, and lifelong care of individuals with achondroplasia.
28 Nov, 2021 | 21:16h | UTCInternational 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
New content online: International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia https://t.co/sP3BbFsc5z pic.twitter.com/fR23dID0Hw
— Nature Reviews Endocrinology (@NatureRevEndo) November 26, 2021
Pro-Con Debate: Should all babies have their genome sequenced at birth?
19 Nov, 2021 | 10:19h | UTCShould all babies have their genome sequenced at birth? – The BMJ
Related:
Review: Genome sequencing as a diagnostic test.
Novel gene therapy for hemophilia A leads to sustained expression of clotting factor and reduced bleeding events.
19 Nov, 2021 | 10:25h | UTCOriginal Study: Multiyear Factor VIII Expression after AAV Gene Transfer for Hemophilia A – New England Journal of Medicine
Commentary on Twitter
3.5 years after therapy with factor VIII-containing adeno-associated virus, 16 of 18 men with hemophilia A had enough factor VIII expression that bleeding events were reduced to nearly zero and prophylaxis was discontinued. https://t.co/n3cPyjGDkn pic.twitter.com/vPyz0OmT1S
— NEJM (@NEJM) November 18, 2021
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
17 Nov, 2021 | 08:19h | UTC
Commentary on 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
IDSA/ASM Consensus Review Document: Clinical and Infection Prevention Applications of SARS-CoV-2 Genotyping.
16 Nov, 2021 | 08:50h | UTCNews 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 | UTCOriginal Study: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report – New England Journal of Medicine
Related:
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 | UTCOriginal 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.
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 | UTCGenome 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 | UTCWe 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
Commentary on 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
RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.
28 Sep, 2021 | 09:05h | UTC
Commentaries on 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
Review | The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology.
14 Sep, 2021 | 09:58h | UTCThe next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology – Nature Medicine
Commentary on 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
AHA Scientific Statement: Genetic testing for heritable cardiovascular diseases in pediatric patients.
6 Sep, 2021 | 10:33h | UTCNews release: Genetic testing in children for heart disorders should be family-centered, include counseling – American Heart Association
Commentary on 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
Cohort study: Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers.
20 Aug, 2021 | 08:39h | UTC
Commentary on Twitter
For #BRCA1 mutation carriers, longer duration of oral contraceptive use (>10 yr) is associated with a greater reduction in #OvarianCancer risk, and the protection is long term. https://t.co/HrrutgaYKX
— Anna Chichura, MD (@AnnaChichuraMD) July 3, 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
5 Aug, 2021 | 08:33h | UTCVisual abstract: Risdiplam-Treated Infants with Type 1 SMA vs. Historical Controls
Review: Tuberous sclerosis complex for the pulmonologist.
5 Aug, 2021 | 08:30h | UTCTuberous sclerosis complex for the pulmonologist – European Respiratory Review