Genetic screening can protect relatives after sudden death

21 January 2014

New guidance for coroners stresses the importance of screening for genetic heart problems in relatives of people who die suddenly and unexpectedly.
Inherited cardiac conditions (ICCs) are a large group of more than fifty different conditions (including hypertrophic cardiomyopathy and Long QT Syndrome) that primarily affect the heart; together they affect more than 340,000 people in the UK alone. Unfortunately, in children and young adults the first sign of a problem may also be the last, with these conditions accounting for a significant proportion of sudden deaths in this age group.
Five years ago, the PHG Foundation led a major project on the rapidly emerging role of genetic testing for inherited cardiac conditions in improving diagnosis and care for patients and families, involving key charities including the British Heart Foundation (BHF), Cardiac Risk in the Young (CRY) and Sudden Arrhythmic Death Syndromes (SADS) UK.
One of the key recommendations of this work was that that coroners needed to be made aware of the potential value of genetic testing for family members following the sudden death of a young person, and their responsibilities in making them aware of this.
Coroners are independent government officials who confirm and certify the cause of death in certain circumstances, including sudden unexpected deaths. They are often the first official point of contact for bereaved families after sudden death, so their knowledge of the possibility of inherited heart disease can be pivotal.
These conditions can be detected by simple medical investigations such as electorcardiograms (ECGs) or echocardiograms, whilst genetic testing can identify underlying genetic defects. Retaining a tissue or blood sample from someone who has died suddenly can reveal whether a genetic heart condition was present, and facilitate testing of relatives to determine whether they are also affected and may be at risk of sudden death. Knowledge of the specific genetic cause can also help doctors provide the best treatment and advice to reduce risks.
Now the BHF has developed and issued specific guidance for coroners in England and Wales, asking them to directly recommend medical screening to relatives of sudden death victims and saying that hundreds of lives could be saved in this way. GPs can refer families for the investigations they may need.
BHF medical Director Prof Peter Weissberg commented: “We are delighted the Chief Coroner is supporting this important guidance. It will save lives and prevent families suffering a second devastating loss”.
Comment: The PHG Foundation’s recommendations also led to the creation of health service commissioning guidelines for inherited cardiac conditions, and the subsequent designation of ICC services as a priority area for development. With improved availability and scope of these new services, it is more important than ever that families with known or suspected inherited heart conditions should access them, and coroners have a vital role to play in this respect.

To find out more, read our 2009 report Heart to Heart: inherited cardiovascular conditions services

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