Early results from preemptive genomic testing are raising questions about the prevalence and penetrance of pathogenic variants, and who is pursuing such testing.
Researchers found cancer risk variants in individuals who did not meet criteria for testing, and testing led to early cancer detection in several cases.
With panel sequence data from Ambry's clinical lab and a TNBC research consortium, researchers saw risky hereditary variants in BRCA1/2 and other genes.
Researchers led by MD Anderson’s Karen Lu want to know the most efficient genetic counseling strategy as more people are getting screened for cancer risk genes.
Researchers analyzed germline mutations in 256 kidney cancer patients and found mutations that would have been missed, including therapeutically relevant ones.
With panel sequencing data for more than 143,000 individuals, researchers characterized intragenic copy number variants in hundreds of monogenic disease genes.
The Center for Genomic Interpretation and NSGC want payors to cover confirmatory testing for patients with positive results from 23andMe's FDA-cleared test.
The firm reported selling more billable tests in Q1 than any previous quarter and said that it is starting to see momentum in new initiatives, such as carrier screening.
A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.
