The government should consider opening “biobanks” full of thousands of patients’ samples to allow scientists to crack the genetic codes of cancer and other serious diseases, a leading biochemist said.
Following the sequencing of the human genome, scientists are now working to decipher the genetic factors influencing a whole range of inherited diseases – such as why some people chain-smoke all their lives and never get cancer, while others catch it at an early age.
Professor John Scott, of Trinity College Dublin, who yesterday revealed he had discovered genes that make people more likely to get spina bifida, said the best way to do this was to compare thousands of samples from patients with a particular disease with samples from people who did not have it.
However, following the Alder Hey Children’s Hospital scandal over the retention of dead babies’ body parts, it will be a criminal offence in the UK to carry out testing on human material without “informed consent”, and new legislation on the issue is being considered in Scotland.
Prof Scott, who presented a paper on his work at the BA Festival of Science in Dublin yesterday, said both the UK and Ireland should look at whether vast biobanks with thousands of tissue samples could be opened up to scientists.
“That’s one of these ethical issues that run through the media; protecting people’s right to not have their DNA looked at and in a sense denying science the right to use them,” he said.
“There are biobanks all over Ireland and the UK where there is biopsy material from people with colon cancer and people who don’t have colon cancer.
“The issue arises: do we have permission to look at the DNA? The ethical issue is: can one presume we have informed consent?”
While the sequencing of the human genome was completed in 2003, Prof Scott said there had been “very little” progress in establishing which genes are major causes of inherited disease. “The science has now caught up,” he said. “We haven’t heard a great deal about this, but believe me, we will.”
In addition to finding genes that make people sick, scientists are looking for genes that protect against specific diseases.
“People can smoke 80 cigarettes a day for 60 years and never get lung cancer. Why is that? The presumption is they have protective genes,” said Prof Scott. “We’ll be trying to track the genes that slightly increase the risk and slightly decrease the risk of catching a disease.”
His research has found two genes linked with spina bifida, a condition which causes paralysis, malformations and, in rare cases, mental illness.