Articles related to GENETIC TESTING

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.

The American Thoracic Society updated guidance for childhood interstitial lung disease in infants, emphasizing genetic testing, chest imaging, biopsy indications, and transplant referral. Recommendations formalize evaluation priorities for rare pediatric lung disorders.

Analysis of genetic testing data from nearly 180,000 individuals with autism suggests that Phelan-McDermid syndrome may affect approximately 1 in 7,300 people. The findings indicate the condition may be substantially more common than previously estimated and highlight ongoing diagnostic gaps.

Talazoparib plus enzalutamide reduced the risk of radiographic progression or death by 52% versus enzalutamide alone in patients with metastatic castration-sensitive prostate cancer harboring homologous recombination repair gene alterations, with a 3-year rPFS rate of 77% versus 56% in a 599-patient phase 3 trial.