Challenging the Sacred Status of Free Enterprise

"Our position is very straightforward. No one should be able to patent human DNA; it would be like patenting air or water."
"Our genetics leadership really is at the leading edge in Canada of moving us toward that era of personalized medicine that everyone is talking about."
Alex Munter, CEO, Children's Hospital of Eastern Ontario

Children's Hospital of Eastern Ontario. (TONY CALDWELL/Ottawa Sun)

"CHEO [Children's Hospital of Eastern Ontario] has been the hub of internationally acknowledged, world-class research in finding rare-disease genes."
"It is particularly ironic that we have been involved in finding these genes, we have tests that can find mutations in all of these genes and really do a lot of good for patients, and yet patents have the ability to stand in the way of using that for the benefit often of the very patients who participated in the gene-finding endeavours."
"We feel there is a huge moral imperative to try to clarify (this situation). Long QT syndrome is one of about 7,000 genetic conditions we know about, and we are worried about the potential for new patents to cause this problem for increasing numbers of genes."
Dr. Gail Graham, chief, CHEO's genetics department

Dr. Gail Graham, CHEO


An Ottawa mother of two discovered a family history of long QT syndrome at age 34 when she was pregnant with her second child. Her mother and grandmother had died in their 20s soon after giving birth to their first children. Katherine Dines was four months old when her mother collapsed without warning and died, and the reason for that collapse had remained a mystery until her infant daughter was found at 34, to be at risk when she and her daughter were tested by a doctor at CHEO, revealing long QT syndrome.

Through genetic testing the family finally had a diagnosis.

Long QT syndrome affects about one in 2,500 newborns. Its presence can lead to arrhythmias, causing a significant number of sudden deaths in  young adults. Occasionally young athletes playing sports will suddenly suffer a surprise collapse, and die, never having been diagnosed with any health problems. Symptoms like fainting spells in exercise can sometimes assist doctors to diagnose and treat patients, but in many instances the first symptom of the syndrome becomes sudden death.

When diagnosis is achieved, the syndrome is treatable with medications. Genetic testing along with electrocardiograms seem the most significant manner in which diagnosis can be confidently achieved. On the cusp of becoming one of the province of Ontario's testing centres for the syndrome, a cease-and-desist order was served on the province from the patent holders, linked to the disease. As a result of patents related to the genes reflecting the disease, testing must be performed in the U.S.

There, the cost turns out to be between $4,500 to $4,800 for each patient, whereas if the tests could be done in Ontario, the costs would be between $1,500 and $2,000. Testing in Ontario would present notable savings to the Ontario health system of roughly $200,000 annually. Should genes continue on the patent route, explained Dr. Graham, the costs would continue rising into the millions each year for provincial health systems.

Notably, CHEO  has approached the final stages of verifying a new genetic test meant to simultaneously sequence each of the thousands of genes in an individual linked to human genetic diseases. A test such as this prospective one would present great difficulties to patients with undetected long QT syndrome, for if the test turned up genetic mutations for the syndrome, lab technicians would be deterred by patent law from providing that information to the physician treating the affected patient.

The result could mean that because of tying the matter up in a legally-mandated, profit-motivated knot a potentially fatal condition might go untreated.

As genetics move out of the laboratory and into clinical treatment, a prospect that reaches into the future of advanced treatments, researchers and clinicians looking for mutations in thousands of genes in the human genome connected to diseases must be confident they will be free to report their results to the patients involved. Patents such as those held by the University of Utah, Genzyme Genetics and Yale University forbid that.

The U.S. Supreme Court struck down patents on two genes linked to higher rates of breast and ovarian cancer, in 2013. The court felt that human DNA represents a product of nature and a basic tool of scientific and technological work should be beyond the range of patent protection. Justice Clarence Thomas stated a considerable danger existed that patents on DNA would effectively hinder research and innovation.

Now, the Children's Hospital of Eastern Ontario has gone to the Federal Court of Canada to declare patents on genes linked to the inherited heart condition QT syndrome be declared invalid. This is the first legal/medical challenge of its kind to take place in Canada, and the potential implications will be immense, reaching beyond the present, far into the future of medical science and the practise of the healing arts.

Should the patent laws adhering to gene research be upheld, said Dr. Graham, "It will stifle, rather than help, innovation" and invariably do great harm to patients whom such research and innovation is meant to benefit. The Toronto law firm of Gilbert's LLP has taken on the case pro bono, signifiying how important the outcome will be for the benefit of society at large

A U.S. patent holder has tried to prevent Ontario labs and hospitals from being able to deliver a genetic test to patients, says lawyer Richard Gold. (CBC)

"CHEO is an excellent research institution, and they treat the most vulnerable population. It is a dream for any lawyer to say, 'I was part of this'", commented Richard Gold, McGill University law professor, pointing out how strongly the law firm feels about critical issues of the public weal, revealed in this very case.