Germline molecular testing involves detecting variants in genetic material in an individual, and interpreting the significance of these in relation to a specific clinical presentation and/or family history. This can be used to inform risk assessment and clinical management of inherited conditions.
The availability of large sequencing panels presents opportunities to improve diagnosis but also increased challenges with detection of many more variants, many of which will be benign or of uncertain clinical significance.
A clear interpretation framework inline with current UK best practice guidelines (ACGS, CanVIG) is thus helpful in assisting with the interpretation and re-interpretation of genetic test results as knowledge improves.
Germline molecular testing, reporting and interpretation services are provided by Gail Norbury.