New England Journal of Medicine Publishes Study Where Researchers Call Attention to Lack of Knowledge about Some Genes Included in Gene Panel Tests for Inherited Cancers
Researchers are concerned about the lesser-known genes included in the test and also point out that little published research exists to support use of these genes for clinical laboratory testing
Gene-panel tests for inherited cancers were scrutinized by a group of 17 prominent international genetic researchers in a study published by the New England Journal of Medicine (NEJM) this summer titled “Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk.” These experts pointed out that, for many of the genes included in these test panels, there remains much uncertainty about their role in various cancers and other diseases.
What will be of greatest interest to pathologist, Ph.D.s, and medical laboratory professionals currently performing molecular diagnostics assays and genetics is that these experts proposed greater regulation of unvalidated gene-panel tests for inherited cancers. In the NEJM, the authors provided some examples of genetic tests, such as those offered by Myriad Genetics, Inc. (NASDAQ:MYGN), Ambry Genetics, Invitae (NYSE:NVTA), and Illumina, Inc. (NASDAQ:ILMN) and noted that risks posed by many mutations occurring on these panels are unknown.