'Junk DNA' pioneer hits back at critics

Australian geneticist Malcolm Simons has hit back at critics of the controversial international patents he secured in the 1990s for the use of non-coding DNA to predict individuals' genetic risk of developing diseases like cancer and cardiovascular disease.

Simons and Genetic Technologies (GTG), the Melbourne company that now owns the patents, have come under strong and sustained criticism in recent months from doctors and researchers who have argued that the patents are far too broad, threaten to restrict academic research, and may make it too expensive for people take potentially life-saving tests to identify their risks of cancer and other diseases.

Eminent US geneticist Francis Collins, head of the National Human Genome Research Institute, this week joined British Nobel laureate Sir John Sulston in criticising GTG and the Simons patents, which cover all diagnostic applications of all so-called 'junk' DNA, which constitutes around 98 per cent of the human genome.

Simons, who invited Collins to discuss the issue at the US geneticist's plenary address on Monday evening, said he was "grateful" to Collins for bringing the matter into the public domain so it could be dealt with in a constructive manner.

"Everyone seems to have views on it, mostly critical, and none of them will meet be to discuss their concerns."

Simons said it was necessary to separate the issues of the scope of the patent, and GTG's plans to charge for academic use of the patents, from the issues of "who is claiming to have discovered what", and his critics' claims that his discoveries were neither novel, or non-obvious, as required by international patent law.

He said the first patent applications had been made in 1989-90, and the most significant patents were issued 1993, 1997 and 1998.

During this extended period, patent offices in all jurisdictions had chosen to grant the patents, with some modifications.

"Most people would accept that by 1998, the US Patent Office knew what it was doing We can assume it wasn't lacking in competence, and five more years have now elapsed, during which thousands of people have had their attention drawn to the issue by GTG," he said.

With the exception of several claims that are still subject to litigation, the process had not uncovered any publication that could be considered prior art.

"I'm not aware of any need from GTG advisers to notify patent offices of any change, so after 10 years it's looking pretty solid, and people should direct their criticisms at the patent office, not at me," he said.

Simons said he now wanted his peers to substantiate their case that the application of non-coding DNA to disease-risk prediction was "obvious".

"If they can't, then the patent office is correct, and it's thanks very much. I would like to be recognized for my foresight and inventiveness, or to be told I'm deluded," he said.