The researchers estimated that addition of RNA-based testing could benefit about 1 in 43 individuals undergoing hereditary cancer predisposition genetic testing.
The team analyzed multigene panel test data from Ambry Genetics for 165,000 individuals, focusing on hereditary cancer risk related to 32 genes in six cancer types.
By profiling hereditary risk variants in women with breast cancer, researchers hope to lay the foundation for future genetic testing programs in the Caribbean country.
Researchers classified 64 hereditary cancer gene variants with RNA genetic test data, investigating related management changes and potential impacts in other DNA test recipients.
My Gene Counsel's confirmatory testing program is the latest example of how the healthcare system is adapting to consumers' growing appetite for genetic testing.
Ambry researchers recently published a study suggesting that roughly 40 percent of genetic variants reported in raw data from DTC genetic tests may be wrong.
MSK's PathoMAN achieved 94 percent and 81 percent concordance with results from three commercial labs for pathogenic and benign variants, respectively.
