Most Genetic Counselors Encounter Discrepant Variant Classifications, Must Work Out Interpretations
While neither common nor rare, discrepant variant classification can affect the management of patient care, and there are efforts to improve interpretations.
New Data Underscores Volatility of Variant Classification, Highlights Need for Regular Reanalysis
A review of Myriad Genetics' results over 10 years revealed that a significant proportion of variant calls were reclassified at some point.
Rhabdomyosarcoma Genes Revealed by Statistical Analysis of Gene Expression, CNV Data
The approach, published this week in Cell Reports, could be used more generally to discover disease genes in other cancer types.
Variant Reclassification Common, Causes Range of Emotions Among Patients
Two speakers at the National Society of Genetic Counselors annual meeting discussed how often genetic variants are reclassified and how that affects patients.
Biocept, UT Southwestern Partner for ALK Liquid Biopsy Study
Investigators will use Biocept's liquid biopsy tests to detect ALK rearrangements both at baseline and to monitor treatment response and resistance mechanisms.