| Abstrakt: |
A study conducted by the University of Southern California Keck School of Medicine examined the results of sponsored genetic testing panels for inherited retinal diseases. The study found that while free genetic testing panels have improved access to testing, the interpretation of results, particularly variants of unknown significance (VUS), remains challenging and requires expertise. The study compared the results of two testing panels and found that there were discrepancies in diagnostic yield and variant classification between the two. The researchers concluded that careful interpretation of genetic testing is necessary and that VUS should not be considered pathogenic in clinical decision-making. [Extracted from the article] |
