Genetic testing of critically ill adults can yield surprises—and reveal disparities in treatment of Black patients

Before a baby in the United States reaches a few days old, doctors will run biochemical tests on a few drops of their blood to catch certain genetic diseases that need immediate care to prevent brain damage or other serious problems. Efforts are underway to expand newborn screening with direct testing for genetic mutations. In adults, however, widespread genetic testing is relatively uncommon because it’s thought to be less likely to produce diagnoses that affect patients’ care. But a study of genetic testing of adults admitted to intensive care units (ICUs), published this week in The American Journal of Human Genetics, suggests it’s not just newborns who can benefit from this diagnostic strategy.

Nearly one-quarter of the adult patients had genetic diagnoses pertinent to their symptoms in the ICU, the researchers found—and half of those people had not previously been aware of these genetic disorders. The team also found Black patients were far less likely than white patients to receive these personalized diagnoses before or during their ICU stay.

The work is “groundbreaking,” says Tara Wenger, a pediatric...