Genetic Testing Benefits Critically Ill Adults

Genetic disorders are often underdiagnosed in adults, despite their significant role in causing critical illnesses, especially in intensive care units (ICUs). It has long been believed that the likelihood of finding undiagnosed genetic conditions decreases with age, which has led to genomic testing being largely limited to pediatric patients. As a result, many adults are not screened for potential genetic conditions, even though these conditions can contribute to severe health complications. Genetic testing has already proven beneficial for infants and children with suspected genetic diseases by providing early diagnosis and enabling cost-effective treatments. Now, researchers have found that genetic disorders are surprisingly common among adults in the ICU, suggesting that the majority of critically ill patients could benefit from genetic testing.

The study was conducted by researchers from the Perelman School of Medicine (Philadelphia, PA, USA) who analyzed whole exome sequencing (WES) data from 365 adults aged 18 to 40 years who were admitted to the ICU at the University of Pennsylvania Health System. The researchers found that nearly one in four patients had a genetic condition contributing to their ICU admission, and almost half of these patients were unaware of their genetic diagnosis. The study also revealed that these diagnoses could provide specific management guidelines for over 75% of the patients. The researchers emphasized that no correlation was found between patient age and the likelihood of having a genetic diagnosis, meaning that older adults were just as likely to have a genetic condition causing their critical illness as younger adults.

The findings, published in The American Journal of Human Genetics, also highlighted the significant race-based disparities in access to genetic testing, with Black patients being notably less likely to have documented genetic diagnoses compared to their white and Asian counterparts. This disparity is likely due to biases in physician referral practices and societal barriers. The study suggests that broad genetic testing could greatly benefit critically ill adults, providing valuable pharmacogenomic information to guide medication dosing and ensure efficacy. Moving forward, the researchers plan to prospectively sequence the genomes of ICU-admitted patients as part of a pilot study to demonstrate the utility of genetic testing in routine ICU care.

“Genetic testing costs little compared to an ICU stay, yet it’s rarely offered to adults,” said Theodore G. Drivas, Assistant Professor of Medicine at the Perelman School of Medicine. “Our findings strongly suggest that we should consider offering broad genetic testing to patients as part of their ICU admission; knowing a patient’s genetic diagnosis can mean better care, better survival, and fewer health disparities.”