Call for tests after sudden death.

The BBC news
reports that senior doctors are calling for human tissue to be routinely kept for genetic testing in cases where young people die without explanation. They say the DNA from such samples may reveal an unsuspected inherited condition and save relatives’ lives. One doctor said pathologists should be encouraged to take the tissue and ask for consent later if necessary. But the Human Tissue Authority said it was “alarmed” about public calls for practitioners to break the law. The Human Tissue Act requires that appropriate consent is in place before the tissue is removed from a deceased person.

Dr Mary Sheppard, of the Royal Society of Medicine’s pathology section and a leading expert on Sudden Cardiac Death (SCD), said some coroners did ask relatives already but others felt it was not part of their remit. She said: “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.” She estimates that every year roughly 800 young people under the age of 35, apparently fit and healthy, die suddenly from unsuspected heart disease or without explanation.

The government has recently set up a database operated by the NHS Information Centre to collect reliable data from pathologists on these deaths.

Alison Cox, founder and chief executive of the charity Cardiac Risk in the Young (CRY) said: “In the past two years we have seen the coroners taking huge steps to support families after the tragedy of a young sudden cardiac death.” DNA testing is clearly a potential resource for further information when it is possible to obtain it.”

Inherited heart problems that can cause Sudden Cardiac Death include:
Long QT syndrome – a disorder of the electrical activity of the heart;
Brugada Syndrome – irregularities of the electrical activity of the heart;
Inherited cardiomyopathies or heart muscle diseases.

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