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Genetic Testing

News, opinions and meeting coverage in genetics.

A photo of a man鈥檚 lip swollen from hereditary angioedema

<乌鸦传媒>Hereditary Angioedema Attacks Reduced With Donidalorsen Prophylaxis

Investigational treatment passes muster in phase III trial

A computer rendering of a blood vessel narrowed by atherosclerosis

<乌鸦传媒>Age-Related Somatic Mutations Implicated in Cardiovascular Death

Clonal hematopoiesis a red flag for people with asymptomatic carotid atherosclerosis

Stylized illustration of strands of human DNA.

<乌鸦传媒>Genetics Studies Have a Diversity Problem That Researchers Struggle to Fix

Most data based on DNA from white people, but small differences can have big health outcomes

A close up photo of a fitness tracker on a woman鈥檚 wrist reading 9,606 steps

<乌鸦传媒>Need 10,000 Daily Steps to Prevent Obesity? It May Depend on Genetics

Current recommendations may underestimate activity needs for people with high genetic risk

A photo of a vial of Fluorouracil

<乌鸦传媒>Overdosing on Chemo: A Common Gene Test Could Save Hundreds of Lives Each Year

Treatment can be deadly for enzyme-deficient patients; NCCN doesn't call for preemptive testing

SMFM over a photo of Gaylord National Resort & Convention Center in National Harbor, MD

<乌鸦传媒>Genome Sequencing Identified Variants in Fetal Structural Anomalies

Researcher touts identification of "high percentage of genetic disorders"

A photo of a woman receiving an ultrasound early in her pregnancy.

<乌鸦传媒>More Patients Rely on Early Prenatal Testing as States Toughen Abortion Laws

But testing early in pregnancy may be inaccurate

A photo of a hand holding a well plate in front of an electropherogram

<乌鸦传媒>Cost of Genomic Testing on the Minds of Many Oncologists

Insurance coverage, patient out-of-pocket costs key considerations for 80% of survey respondents

A photo of a pregnant woman receiving an ultrasound.

<乌鸦传媒>Retinal Tumor Risk Incidentally Detected at 29 Weeks' Gestation

Finding poses clinical and ethical dilemma for parents and clinicians

A photo of a male firefighter standing in front of a fire truck.

<乌鸦传媒>Moving Beyond the 'Angelina Jolie Effect' to Address Cancer Disparities

A "local heroes effect" can better reach communities of color

A photo of a pipette in a petri dish laying on top of a DNA sequencing gel.

<乌鸦传媒>Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids, but Few Insurers Cover It

Test can "change the trajectory of these children's diseases"

A computer rendering of the female reproductive system in the pelvis.

<乌鸦传媒>In BRCA Breast Cancer, Prophylactic Salpingo-Oophorectomy Tied to Better Survival

PSO should be performed early, particularly for those with the BRCA1 variant, researchers say

FDA MARKETING Invitae Common Hereditary Cancers Panel over a photo of the product.

<乌鸦传媒>FDA Greenlights Test for Cancer-Predisposing Genetic Mutations

First-of-its-kind DNA test achieved 99% accuracy for variants in dozens of genes

FDA ADCOMM patisiran (Onpattro) over a medical illustration of cardiomyopathy over a microscopy of heart amyloid deposits

<乌鸦传媒>FDA Panel Reluctantly Backs Patisiran for ATTR Cardiomyopathy

Clinical meaningfulness is a different question, however

A photo of a box of Trikafta over CT scans of a male with sinusitis.

<乌鸦传媒>Some Sinus Relief for Cystic Fibrosis Patients on Trikafta

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

Photo of a doctor checking a sports athlete with a stethoscope.

<乌鸦传媒>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

A scanning electron microscope image of a sickle cell.

<乌鸦传媒>New Recommendations Address Global Inequality in Sickle Cell Disease Care

Commission lays out strategies for progress by 2025 and beyond

A graphical representation of a genome sequence map.

<乌鸦传媒>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

A computer rendering of aortic dissection.

<乌鸦传媒>Bicuspid Aortic Valves and Aortopathy Cluster Among Close Relatives

Large study supports wider screening of family members of probands

A photo of a pipette hovering over a petri dish laying on genetic testing results.

<乌鸦传媒>How to Overcome the Catch-22 in Precision Medicine Research

Improving the patient experience will go a long way

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

<乌鸦传媒>ASCO Backs Routine ESR1 Testing for Certain Breast Cancers

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

FDA APPROVED elexacaftor/tezacaftor/ivacaftor (Trikafta) over a photo of a little girl on a couch using a nebulizer.

<乌鸦传媒>FDA Extends Trikafta Approval to Even Younger Cystic Fibrosis Patients

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

AACR over a photo of Orange County Convention Center in Orlando, Florida.

<乌鸦传媒>Genomics Add Insight Into Worse Colorectal Cancer Outcomes in Black Patients

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

AACR over a photo of Orange County Convention Center in Orlando, Florida.

<乌鸦传媒>Many With Cancer Predisposition Diseases Unaware of Genetic Status

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

A portion of the map of the human genome

<乌鸦传媒>Genomics Can Help Diagnose Rare Pediatric Diseases

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

A photo of Eric Green, MD, PhD

<乌鸦传媒>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 乌鸦传媒

A photo of nurses in protective gear wheeling a male COVID patient down a hospital hallway.

<乌鸦传媒>Common Enzyme Deficiency Linked With COVID Severity

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

A close up photo of a female cancer patient having a central line port prepared for chemotherapy

<乌鸦传媒>KRAS Mutations in Metastatic CRC Predict Survival Benefit of Chemo Combo

Trifluridine/tipiracil fails to improve survival in patients with KRAS G12-mutant tumors

A computer rendering of a blue X chromosome highlighted in red in the center

<乌鸦传媒>Inflammatory VEXAS Syndrome May Not Be So Uncommon

Is new disease being missed by physicians?

A photo of a sign which reads: YOUNG PEOPLE ARE DYING OF COLORECTAL CANCER on the National Mall in Washington, D.C.

<乌鸦传媒>We're Underutilizing Genetic Testing for Colorectal Cancer

Universal germline testing should be part of the standard of cancer care

A photo of surgeons removing a breast cancer tumor.

<乌鸦传媒>Genomic Assay May Pinpoint Who Can Skip RT After Breast-Conserving Surgery

Patients categorized as low risk with 16-gene signature showed no significant benefit with RT

SABCS over a photo of Henry B. Gonzalez convention center in San Antonio, Texas.

<乌鸦传媒>Assay Predicts Breast Cancer Patients Who Will Benefit From Ovarian Suppression

Low score suggests improved outcomes with ovarian suppression plus adjuvant endocrine therapy

An illustration of a physician holding a patient's hand with the text The Doctor's Art - A podcast on Meaning in Medicine

<乌鸦传媒>Decoding Cancer

A conversation with Harold Varmus, MD, who received the Nobel Prize in Physiology or Medicine in 1989

A photo of Chris Hemsworth

<乌鸦传媒>Chris Hemsworth's APOE4 Alzheimer's Gene

The Thor actor recently learned about his genetic predisposition

A stylized computer rendering of a human heart and heartbeat.

<乌鸦传媒>Early Cardiac Amyloidosis Still Bad News Without Treatment

Observational study supports treating even asymptomatic patients

A photo of Shoshana Ungerleider, MD

<乌鸦传媒>My Risk Revealed: A Confirmed BRCA2 Mutation

My dad's cancer diagnosis offered me invaluable information

A photo of two bananas and two potatoes.

<乌鸦传媒>Starch for Cancer Prevention? It's Not as Bananas as You Think

Resistant starch may be protective against certain Lynch syndrome-related cancers

HRS over a photo of Moscone Center South in San Francisco, CA

<乌鸦传媒>Do Pediatric Electrophysiologists Have It Harder?

Clinicians discuss the dilemmas and shortcomings in the field

<乌鸦传媒>FDA Issues Warning on Prenatal Genetic Tests

Relying on results could lead to inappropriate medical decisions, agency warns

A close up shot of a hand holding a pencil over a DNA gel.

<乌鸦传媒>The Evolving Role of the Medical Geneticist

ACMG leadership on new opportunities for clinicians and the future of genetic medicine

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