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In a large, diverse cohort of women with endometrial cancer, 11.9% harbored pathogenic germline variants, including Lynch syndrome and homologous recombination deficiency-related mutations. Testing at diagnosis identified most Lynch syndrom
Comprehensive exome sequencing reveals genetic heterogeneity in persistent tachypnea of infancy (PTI/NEHI), highlighting its phenotype nature and association with neurodevelopmental disorders, advocating early genetic testing to enhance dia
Incorporating a type 1 diabetes genetic risk score into MODY genetic testing helps identify misdiagnosed T1D cases, particularly in children, optimizing diagnostic accuracy and reducing unnecessary testing.
This multicenter study reveals improved outcomes in fetal cardiomyopathy, highlights genetic underpinnings in one-third of cases, and identifies fetal hydrops and extracardiac anomalies as key prenatal risk factors for mortality.
A massive cohort study of 245,388 US adults reveals that 1 in 287 carries a familial hypercholesterolemia mutation. Despite high risks for premature heart disease, most carriers remain undertreated, with fewer than 20% of those with establi
A landmark Spanish study reveals that patients with ‘arrhythmic’ genotypes in dilated cardiomyopathy face a significantly higher risk of advanced heart failure events, including heart transplantation and VAD implantation, necess
This review synthesizes recent large-scale genomic evidence (ROPAD, PD GENEration, MDSGene) to outline the diagnostic yield, ethnic variations, and genotype-phenotype correlations in Parkinson’s disease, emphasizing the transition toward un
The WISDOM trial found that 3.1% of women without breast cancer carried pathogenic variants in key susceptibility genes, many outside existing testing guidelines.
Genomic newborn screening shows promise for early detection of a wider range of diseases but raises significant technological, ethical, and equity challenges before becoming a universally accessible public health tool.
