newborn screening
Initial results from a multinational rapid WGS newborn screening program are promising, though organizers hope to create a longitudinal study to support potential clinical uptake.
The mass spectrometry-based test measures homocysteine levels in newborns to detect the metabolic disease homocystinuria.
Rebranded GeneDx Bets Future on Whole-Exome, Whole-Genome Sequencing in Pediatric Rare Disease
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After dropping underdeveloped Sema4 business lines but emphasizing the Centrellis informatics platform, the new GeneDx expects to reach profitability by 2025.
State labs and commercial companies see rising spinal muscular atrophy test volumes as screening programs launch in US states and European countries, among others.
The UK government said it will also invest £26 million to support cancer genomics research, and an additional £22 million to improve genomic data diversity.