Genetics in Medicine

Systematic review & meta-analysis of 46 studies found exome/genome sequencing (ES/GS) each diagnosed ~39% of critically ill patients w/suspected genetic disorders. GS showed trends toward higher yield, supporting early genomic testing in NICU/PICU care bit.ly/4fjl6FW

Connecting research and clinical care: #UDN study highlights majority of new diagnoses required both clinical evaluation and use of research strategies beyond standard approaches. bit.ly/4zoQQ4x #RareDisease #UndiagnosedDiseaseNetwork

#Functional #genomic testing for people with suspected #rare #monogenic disorders could deliver up to $1.1 million in annual net benefits to Australia’s health system. bit.ly/3V34POE #Genomics #PrecisionMedicine

Postmortem genetic testing for sudden cardiac death found a genetic cause in about 1 in 5 cases. Most variants were in ACMG secondary findings genes, but wide variation in testing and reporting shows need for standardized autopsy, testing & family followup bit.ly/4fcyrQn

Rare structural variants can be hard to interpret, but analysis of patient-derived iPSCs may help clarify pathogenicity. Study of two families with craniosynostosis highlights how regulatory changes near FGF genes can drive phenotype. bit.ly/4ifPQd2