Interpretation of genetic test results

Genetic testing is becoming increasingly accessible to patients as non-genetics doctors are ordering more genetic tests.  Sometimes these results are straightforward and subsequent management implications for the patient and family are clear.  However, genetic 'variants of uncertain significance' (VUS) can be challenging to interpret and the next steps to further evaluate these are not always clear.  Our team of expert clinical geneticists and genetic counsellors are appropriately skilled to facilitate explanation of these complex results for patients and families.  In some cases, we may recommend further investigation or assessment to try to clarify the significance of a VUS, such as testing of additional family members.  Our team is also equipped to deal with the individual family implications of pathogenic DNA changes.