Researchers highlight the limitations of a specific commercially available clinical genetic test in dermatology

Earlier this year, Department of Genetics professor Joel Sax, along with Christopher McFarland, assistant professor at the Department of Genetics and Genome Sciences, and Bryan Carroll, associate professor for the Department of Dermatology, published an article titled “Limitations of the Commercially Available Gene Expression Test in Predicting Cutaneous Squamous Cell Carcinoma Metastasis and Clinical Outcomes” for the Journal of the American Academy of Dermatology.

In an independent investigation into the original study and validation studies of this test, the team uncovered issues in the presentation of statistical accuracy metrics and the use of a limited training dataset. The article also emphasized the broader challenges in the certification, regulation and clinical validity of genetic testing.

Through this testing, Sax, McFarland, and Carroll hope to shed light for the general public on the need for clear regulation for clinical genetic testing.