Epilepsy gene variants differ sharply between East Asian and European populations
A nucleotide-resolved analysis of ClinVar and gnomAD reveals seventeen epilepsy variants dramatically enriched in East Asian populations and shows the ...
Tag: Genetic Testing
Only a Small Fraction of Genetic Variants Ever Change Clinical Meaning, 13-Year Study Finds
A 13-year analysis of 3.68 million ClinVar variants found that only 0.68 percent ever crossed the clinically actionable boundary between ...
Rare EGFR mutation sharply raises lung cancer risk in large genetic study
An observational study of 3.3 million research participants found that inherited EGFR T790M was associated with 25-fold higher lung cancer ...
Clinical Trials Drive Breast Cancer Progress as Awareness Month Highlights New Research
The Alliance for Clinical Trials in Oncology marks Breast Cancer Awareness Month with eight active trials spanning treatment de-escalation, survivorship ...
BRCA1 Carriers Respond Better to Breast Cancer Chemotherapy, Landmark Chinese Study Finds
A study of 1,009 Chinese breast cancer patients found that BRCA1 mutation carriers had far higher rates of complete tumor ...
Genetic Testing Reveals Hidden Gaps in Care for Women at High Breast Cancer Risk
A new survey of nearly 1,000 women with hereditary breast cancer susceptibility genes reveals that financial and emotional support services ...
Skin Biopsy Outperforms Invasive Surgery in Global Mitochondrial Disease Study
An international study shows that functional testing on cells grown from a small skin biopsy can diagnose mitochondrial disease, often ...
Massive Newborn Screening Effort in China Reveals Hidden Burden of Primary Carnitine Deficiency
A ten-year newborn screening program in Yancheng, China, identified 17 infants with primary carnitine deficiency and showed that SLC22A5 genetic ...
When a First Period Never Comes: New Case-Based Guide Maps Diagnosis of Primary Amenorrhea
A case-based review from the University of Messina proposes a physiology-based, four-case framework for diagnosing primary amenorrhea in adolescent girls, ...
Genes May Predict Which Children With Heart Muscle Disease Face the Worst Outcomes
A retrospective study of 77 Chinese children with dilated cardiomyopathy finds that those carrying pathogenic genetic variants had significantly poorer ...
Cancer Survivors Lead the Way in Genetic Testing, but Rural Gaps Persist, National Survey Finds
A nationally representative study of more than 27,000 U.S. adults finds that a personal cancer history strongly increases engagement with ...
Rare Genetic Kidney Disease and Tethered Cord Collide in a Seven-Year-Old Girl
A first-of-its-kind case report describes a seven-year-old girl with genetically confirmed nephronophthisis type 1 complicated by tethered cord, whose kidney ...
Three NHS Genetics Labs Fail to Share Variant Data Vital for Rare Disease Diagnosis
A BMJ investigation finds that three of England's seven NHS genetics laboratories are failing to routinely submit genetic variants to ...
Hidden Gene Deletions Explain Severe Friedreich Ataxia Cases Misdiagnosed by Standard Testing
Researchers have identified covert deletions of the proximal FXN gene that standard testing mistakes for identical repeat expansions, revealing a ...
Singapore’s Nationwide Genetic Carrier Screening Program Offers a Blueprint for Diverse Asian Populations
A nationwide reproductive carrier screening program in Singapore using a customized 112-gene panel has identified at-risk couples while revealing how ...
NCCN Summit Puts Cancer Prevention and Screening at the Heart of Health Policy
The National Comprehensive Cancer Network's two-day Oncology Policy Summit in Washington, D.C. united leaders from the NCI, CDC, and advocacy ...
One Gene, Four Very Different Fates: Rare Wolfram Syndrome Cases Reveal Family Puzzle
A Palestinian family case series shows four girls with the same homozygous WFS1 mutation developing strikingly different Wolfram syndrome features, ...
Case Study: CHARGE Syndrome Linked to CHD7 Variant
In a striking case that underscores the complexities of genetic disorders, researchers have recently reported a de novo variant in ...
Personalized Medicine Progress: Pharmacogenomics Breakthroughs at Ochsner Health
In recent years, the realm of precision medicine has witnessed transformative advancements, with pharmacogenomics emerging at the forefront of this ...
Evidence Lacking: Genetic Testing’s Role in Assessing Opioid Misuse Risk
Opioid misuse remains one of the most pressing public health challenges in the United States, representing a multi-faceted crisis that ...
