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.

A more predictive, preventive approach to medicine can enable more accurate population-level risk assessments and predictions ...

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 ...

Understanding the Biology and Testing Techniques for Pharmacogenomics in Oncology: A Practical Guide for the Clinician Clinical practice guidelines may also provide algorithm-based guidance for use of ...