Increasing access to genetic testing for families who have lost a loved one to SCD, to reduce the number of SCD deaths in the UK.
Background
Sudden Cardiac Death (SCD) is when someone passes away unexpectedly and comprehensive investigations, including post mortem examination of the heart, suggest an underlying cardiac condition. Some of these conditions may be inherited meaning that families may benefit from genomic testing to establish a diagnosis.
Up to 1,500 SCDs occur in the UK each year in people under 35 but SCD can occur at any age. Coronial investigation (with clear communication of potential genetic cardiac cause of death), signposting of family to Inherited Cardiac Conditions Services (ICC) and routine tissue retention for genetic testing is key. H
owever, this is inconsistent across England with some family members not signposted to the ICC and tissue not being retained for testing.
What are we doing?
This project aims to develop an integrated pathway that enables all families affected with SCD to access genomic testing on stored tissues and DNA when SCD is suspected.
Identifying a family where an inherited cardiac condition has led to SCD means they can be screened and monitored if necessary; their condition managed with the potential to save their lives.
Who are we working with?
- The Coronial Service and Chief Coroner's Office
- British Heart Foundation and Cardiac Risk in the Young
- Inherited Cardiac Condition clinics
- Seven NHS Trusts sites in the East of England
- Pathologists in Leicester
Progress and next steps
We are testing a pathway across seven sites (corresponding to the seven GMSAs) that formalises routine coronial investigation, consenting for retention of deceased tissue and signposting positive case families for follow up and index case and cascade genetic testing.
Next steps include:
- Developing databasing as part of ongoing national efforts.
- Developing and disseminating nationally applicable best practice pathways for NHS adoption employing a toolkit approach (engaging patients and support groups with an interest in inherited cardiac disorders).
Meet our team
- Professor Dick Sandford, Project Lead (r.sandford@nhs.net)
- Jo Lowry, Regional Programme Manager (jo.lowry@uhl-tr.nhs.uk)