Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK ...

For patients facing a rare disease, a genetic test isn’t the end of their story; it’s often just the beginning. A test result may point to a diagnosis, or it may reveal a genetic variant that we have ...

Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype.