Articles related to GENETIC TESTING

Whole-genome sequencing of nearly one million participants identified pathogenic DMPK repeat expansions more frequently than historical estimates of myotonic dystrophy type 1 prevalence, while linking expansion status with cardiac conduction disorders and early-onset cataracts.

An international guideline recommends a more structured, phenotype-driven approach to genetic testing in children with short stature, identifying clinical characteristics that increase diagnostic yield while outlining when testing is and is not warranted.

Prostate cancer screening continues to rely on individualized risk assessment, PSA monitoring, and shared decision-making, while advances in MRI imaging and biomarker testing may help refine biopsy decisions and reduce unnecessary invasive procedures.

Genetic testing identifies causative variants in approximately 65% to 70% of suspected inherited retinal disease cases and may shorten diagnostic delays. Advances in sequencing technologies and expanding testing access continue to shape retinal disease evaluation and counseling.

A phase 1 study of mKRAS-VAX in 20 patients at high risk for PDAC showed KRAS-specific T-cell responses in most participants. No high-grade adverse events occurred, but clinical prevention data remain early.

Pediatric hearing loss care has shifted from physiologic detection and rehabilitation toward genetic diagnosis, prognostic counseling, and emerging targeted therapies. Advances in screening, cochlear implantation, and genetic testing have expanded etiologic evaluation, while therapeutic applications remain in early development.