Genetics

Genetic Testing

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FDA Panel Reluctantly Backs Patisiran for ATTR Cardiomyopathy

Clinical meaningfulness is a different question, however

Sep 13, 2023
FDA ADCOMM patisiran (Onpattro) over a medical illustration of cardiomyopathy over a microscopy of heart amyloid deposits
Some Sinus Relief for Cystic Fibrosis Patients on Trikafta

Lung function, BMI, bacterial swabs, sweat chloride levels also improved

Sep 11, 2023
A photo of a box of Trikafta over CT scans of a male with sinusitis.
Cautious Return-to-Play Appears Safe for Athletes With Heart Conditions

Shift away from blanket restrictions is not placing top-tier athletes at undue risk, data suggest

Aug 14, 2023
Photo of a doctor checking a sports athlete with a stethoscope.
New Recommendations Address Global Inequality in Sickle Cell Disease Care

Commission lays out strategies for progress by 2025 and beyond

Jul 13, 2023
A scanning electron microscope image of a sickle cell.
Whole Genome Sequencing Boosts Diagnosis of Rare Disease in Infants

Whole genome scans took longer than a commercially available test, but not for most urgent cases

Jul 11, 2023
A graphical representation of a genome sequence map.
Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives

Large study supports wider screening of family members of probands

Jun 15, 2023
A computer rendering of aortic dissection.
Opinion
How to Overcome the Catch-22 in Precision Medicine Research

Improving the patient experience will go a long way

May 31, 2023
A photo of a pipette hovering over a petri dish laying on genetic testing results.
ASCO Backs Routine ESR1 Testing for Certain Breast Cancers

Activity of elacestrant in EMERALD trial "provides strong signal" for guideline update

May 18, 2023
A photo of test tubes of blood and a petri dish laying on a mammogram of a breast tumor laying next to DNA sequencing result
FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients

Patients ages 2 to 5 years now eligible for the triple therapy

Apr 27, 2023
FDA APPROVED elexacaftor/tezacaftor/ivacaftor (Trikafta) over a photo of a little girl on a couch using a nebulizer.
Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patients

Fewer actionable mutations, less likely to meet genomic criteria for immunotherapy

Apr 19, 2023
AACR over a photo of Orange County Convention Center in Orlando, Florida.
Many With Cancer Predisposition Diseases Unaware of Genetic Status

Moreover, a significant proportion do not qualify for genetic screening under current guidelines

Apr 19, 2023
AACR over a photo of Orange County Convention Center in Orlando, Florida.
Genomics Can Help Diagnose Rare Pediatric Diseases

Large study found genomic analysis delivered answers for 41% of kids with undiagnosed disease

Apr 12, 2023
A portion of the map of the human genome
NIH's Genome Chief Says Genomics Is Evolving and Docs Need More Education on It

National Human Genome Research Institute Director Eric Green sits down with MedPage Today

Apr 07, 2023
A photo of Eric Green, MD, PhD
Common Enzyme Deficiency Linked With COVID Severity

Certain groups of men with G6PD deficiency had higher odds of severe illness

Mar 29, 2023
A photo of nurses in protective gear wheeling a male COVID patient down a hospital hallway.
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Continuing Medical Education