At a meeting on Sudden Cardiac Death (SCD) at the Royal Society of Medicine, sponsored by Cardiac Risk in the Young (CRY), doctors have called for coroners to routinely request consent from relatives to allow small amounts of tissue to be retained from young people (under 35 year olds) who die suddenly from heart disease or without explanation. DNA extracted from the retained tissue may then be tested to provide information about possible genetic conditions that might explain that person's death, and which may therefore affect their relatives.
Dr Mary Sheppard, of the Royal Society of Medicine's Pathology Section and a leading expert in SCD, argued "A DNA sample from a person who has died suddenly could provide a whole genome picture which might benefit relatives potentially at risk from genetic conditions, such as certain inherited heart problems that cause SCD*. If coroners routinely requested consent from the family to retain material for DNA testing at autopsies we would be able to find out far more about how the person died and possibly prevent other deaths in the same family."
It is currently illegal to retain tissue for DNA testing without consent of the deceased's relatives except in forensic cases. Dr Paul Brennan, a Clinical Geneticist and Clinical Lead for Cardiac Genetics for the Northern Genetics Service, argued for a change to the current situation in his presentation at the meeting. He said,
"The coroner's remit is to establish cause of death. This does not currently involve DNA analysis so there is no imperative for the coroner to request storage of DNA from the deceased person. There is, however, a need to alert surviving relatives to the possibility that their relative may have died from an inherited heart problem, in which case genetic testing in the deceased is often necessary. Ideally, there should be one part of a coroner's form which deals specifically with consent for the pathologist to retain tissue for DNA extraction and storage. Until then, I would urge pathologists who haven't had the opportunity to obtain consent, to think about taking these tiny tissue samples - usually a spoonful of blood or a cubic centimetre of spleen tissue - and then ask the relatives for consent. If consent is not given, the tissue must, by law, be destroyed. But if it is not even taken in the first place, a huge potential benefit is lost."
The tissue required for DNA extraction and genetic testing needs to be taken at autopsy in order to provide the information needed. Delay can mean that the specimen cannot provide the important information needed. "There's only a short window of opportunity after a person has died. Once that time has passed a perfect - perhaps life-saving - opportunity is missed," said Dr Brennan.
At present, all close relatives of a victim of SCD should be offered medical screening tests to see if they display signs of an inherited heart problem. This approach can, however, fail to detect problems that a genetic test can help to reveal. The whole idea is to detect these conditions before they cause serious complications - including sudden death. Dr Brennan argued that routine retention and subsequent analysis of the specimens would have negligible cost implications as the cost of genetic testing was usually provided for under specialist commissioning arrangements.
He added, "There has been a lot of discussion about DNA being retained in criminal cases. It seems ridiculous that we don't retain tissue in a situation where it could actually save lives."
* Conditions such as: Long QT Syndrome; Brugada Syndrome; inherited cardiomyopathies
Source
Royal Society of Medicine
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