New SNOMED Codes for FH DNA test results!

HEART UK are pleased to tell you that, after about a year of working through the process, the SNOMED codes for FH genetic testing procedures and test results have been finally approved. They should be available to GPs in the next few weeks, and they will be very helpful for the accurate audit of the FH-patient care pathway by CVD Prevent.  ( ). However, we need your help!

To help GPs select the correct code, we are asking all lipid clinics to include the correct findings code in the letter they return to the referring GP. Please note the two new codes for a finding of “Genetic variant causing familial hypercholesterolaemia not detected” and “Genetic variant of uncertain significance detected”. These are especially important as we need to be able to get National data on the number of negative tests and VUS found from the number of likely FH patients the GPs are referring to lipid clinics.

It would also be best practice if all Lipid clinics could include a copy of the genetic test report they receive for the Diagnostic Laboratories, which the GPs could include in the patient file.

Big thanks !

Peter Green and Steve Humphries (UCL)