Transformation Projects

Sudden Cardiac Death

A pilot project to identify family members at risk of Sudden Cardiac Death.

Sudden Cardiac Death

Project Background

Sudden cardiac death (SCD) is diagnosed when someone passes away unexpectedly and comprehensive investigations, including post-mortem examination of the heart, identifies a cardiomyopathy or aortopathy. If no underlying cardiac disease is found, sudden arrhythmic death syndrome is suspected.

As some of these conditions may be inherited, this means a genetic cause is suspected. In such circumstances families may benefit from genomic testing. Identifying a family where inherited genetic change may explain why an SCD occurred means they can be monitored, their health managed and potentially save their lives.

Project overview

Led by NHS East GMS Alliance, this Project aims to develop a streamlined integrated genetic testing pathway, which enables all families across England, where SCD is confirmed or suspected by the Coroner’s Office, to access genomic testing through the NHS. This pathway will invite family members of anyone who dies from SCD – caused by cardiomyopathy, aortopathy or inherited arrhythmia – to access genomic testing.

The GMSAs are working with NHS partners, the Coronial Service, the British Heart Foundation, Cardiac Risk in the Young, and Inherited Cardiac Condition clinics. This Project will deliver a geographically consistent management of SCD and explore the systematic introduction of post-mortem and family genetic testing for SCD through the newly established Genomic Laboratory Hubs (GLHs) across England. Whole Genome Sequencing (WGS) will be undertaken on stored DNA to ascertain if additional clinical benefit to current standard of care testing can be obtained.

The aims of the SCD pilot Project will be achieved by: auditing current referral criteria and access to Mult-Disciplinary Teams; embedding sample pathways into the regional GLHs; updating consent; identifying areas of unmet needs; barriers to sample storage and subsequent testing; and developing education resources.

By improving how we identify families where SCD has occurred, offering them genomic testing, and monitoring and managing their condition, we will help reduce the risk of other family members experiencing SCD.

A comparison between WGS and non-WGS pathways will also be undertaken to understand if WGS brings additional clinical benefit compared to current standard of care testing.

Progress to date

We have already established the pathway with a regional Coroner’s Office and pathologist, and the Coroner’s Office has been trained in how to request consent from families.

A new specialist cardiac nurse is ready to support families identified through the pathway.  Their role is to ensure referral to a specialist cardiac conditions centre where screening of relatives can take place, leading to appropriate treatment and management (e.g., medication, lifestyle advice, cardiac device implantation).  In addition, they will offer genetic testing of the deceased.

Key Contacts

Specialist Cardiac Nurse and Regional Project Lead

Claire Kirkby

0203 76 58644


Other Requirements

Please contact the Specialist Cardiac Nurse.

Please contact the Specialist Cardiac Nurse, who can provide you with information on eligibility and how to refer to a specialist cardiac conditions service.

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