New Blood Test Could Speed Up Diagnosis of Rare Genetic Diseases in Babies

Researchers at the University of Melbourne have developed a blood-based test that can rapidly diagnose rare genetic disorders in children by analyzing proteins in blood cells, The Guardian reported.

This approach complements genomic testing, which currently provides a diagnosis in only about 50% of suspected cases and often leads to lengthy, invasive follow-up tests.

The new test examines how genetic mutations affect proteins, delivering results in as little as three days. It outperforms current gold-standard tests for mitochondrial diseases and can diagnose conditions that genomic testing alone misses. It requires only 1ml of blood, avoiding invasive muscle biopsies.

The test is applicable to roughly half of the 7,000 known rare diseases and could raise diagnostic rates to 50-70%. Experts praise it as a significant advancement that is minimally invasive, cost-effective, and promises to improve patient care. Further validation and integration into healthcare systems like the NHS are anticipated.