monogenic disease
Increase in Healthcare Utilization, Costs Modest After Genetic Risk Results Return
Researchers tracked follow-up healthcare use and cost in the 12 months after individuals and providers received pathogenic or likely pathogenic variant results for five conditions.
Monogenic Conditions Detected by Panel Sequencing of General Newborn Population
Researchers demonstrated that targeted gene panel sequencing is an effective first-tier method for newborn screening, providing an avenue to expand the conditions considered.
BabySeq Project Unearths Actionable Genetic Variants Impacting Infants, Parents
Researchers saw monogenic disease-related mutations in almost 11 percent of infants' genomes, prompting further testing and management, including for family members.
Experts Endorse Universal Genomic Screening of Monogenic, Treatable Diseases in Newborns
This survey recorded responses from 238 experts and found that 85 percent of them recommend a list of 25 genes-disease pairs to be screened in newborns.
PreventionGenetics Nabs FDA Approval for Obesity Drug Companion Diagnostic
The test detects variants in the POMC, PCSK1, and LEPR genes to identify individuals eligible for treatment with Rhythm Pharmaceuticals' recently approved Imcivree.