Unreported Lab Data Hinders Care for Pediatric Epilepsy Patients
Source: Epilepsia open
Summary
Researchers studied how often unreported information about genetic changes, known as variants of uncertain significance (VUS), is found in children with epilepsy. They looked at the medical records of 162 pediatric patients who underwent genetic testing at the University of Utah and Intermountain Primary Children Hospital's Neurology clinic in 2022. In total, they identified 265 VUSs from these tests.
The study found that nearly half (46%) of the VUSs had suspected internal case data at the laboratory that was not documented in the test reports. However, only a small number of providers (7.3%) reached out to the lab for this additional information. This suggests that many healthcare providers may not be aware of the valuable data that could help them understand these genetic changes better.
Understanding the frequency of unreported data is important because it can help healthcare providers make more informed decisions about patient care. If providers know that there is additional information available, they may be more likely to contact the lab for clarification. However, the study has limitations, such as focusing only on one hospital and not all potential cases, which means the findings may not apply everywhere.
