Senior doctors are calling for human tissue to be routinely kept for genetic testing in cases where young people die without explanation. It is thought that 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. During the implementation of the Coroners and Justice Bill we will consider the additional procedures that might be required to enable families’ wishes in this respect to be achievedquote here
Ministry of Justice spolesperson
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.
- Inherited heart problems that can cause SCD:
- 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
Coroners are in charge of inquests and post mortem examinations and overseen by the Ministry of Justice.
A spokesperson for the Ministry of Justice said: “We recognise that some families who lose their loved ones tragically early would want a more extensive post mortem than is usually required by a coroner whose duty is to establish the cause of death. “During the implementation of the Coroners and Justice Bill we will consider the additional procedures that might be required to enable families’ wishes in this respect to be achieved. More generally, and in relation to specific research projects, the new Chief Coroner is expected to issue guidance on the handling for all requests relating to research into the causes of deaths which coroners investigate, and to provide advice to coroners on how they may or may not be able to co-operate.”
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.”
Dr Paul Brennan, a clinical geneticist for the Northern Genetics Service, said there should be a change to coroners’ forms to deal specifically with consent for the pathologist to retain tissue for DNA extraction and storage. He said: “Until then, I would urge pathologists who have not 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.”
Adrian McNeil, chief executive of the Human Tissue Authority (HTA) said: “The HTA is alarmed about any public statement that urges practitioners to consider breaking the law governing consent and the taking of tissue for DNA testing. “We recognise Dr Brennan’s right, as a senior practitioner in the sector, to propose changes to the current law but cannot endorse what would be a clear breach of the legislation.”