Lead: NHS East GMS Alliance
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.
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. The GMSAs will work with partners, the Coronial Service, the British Heart Foundation, Cardiac Risk in the Young and Inherited Cardiac Conition clinics, to help identify families where SCD has occurred, offer them genomic testing and monitor and manage their condition. A comparison between whole genome sequencing and non-whole genome sequencing will also be undertaken to improve the current genomic tests offered.
This will be achieved by defining all current stakeholders, auditing current referral criteria, ensuring access to Mult-Disciplinary Clinical Teams, identifying areas of unmet need and barriers to sample storage and subsequent testing, and developing education resources.
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.
There will be a pilot site in each of the 7 NHS GMS Alliances. As of June 2022 five sites are live with the additional sites to be up and running shortly.