The first International Rare Disease Day was February 29, 2008. As the headline in the National Post pointed out on February 28, rare diseases are “rare” in name only.

The article states that there may be as many as 7,750 types and some will affect as few as 20-30 Canadians but “taken as a group, however, at least one in 10 Canadians suffers from a rare disorder, and that is only the tip of the iceberg. The numbers may be much higher. Many go undiagnosed for years, so little is known of them.”

With the evolution of genomics it is becoming clear that these rare diseases sometimes referred to as “orphan diseases”, are becoming a force to be reckoned with. Even the recent federal budget included funding for genome work.

Dr. Durhane Wong-Reiger, president of the Canadian Organization for Rare Disorders (CORD), has suggested that these rare disorders, when considered as a class, have a far greater impact than common serious diseases such as diabetes, heart disease and even cancer.

Those who suffer from disorders such as Gaucher’s, Guillain-Barre, Fabry’s or sickle cell anemia seem to be the forgotten ones. Few have a cure and often treatment is so costly that provincial drug benefit plans refuse to pay.

CORD is the voice of Canadians desperately needing help facing their disorders but it is developing some clout when it comes to newborn screening for genetic diseases and advancing made-in Canada orphan drug policy. Although Europe and the United States have had success with national orphan drug and rare disease policies, Canada is lagging.

In the US, orphan drug legislation has helped 310 new products come to market to save the lives of millions of people. In Canada, there is opportunity to attract research and development here which could lead to more treatments for more people.

But in Canada, the money still goes where the votes are and the sad fact according to Dr. Steve Arshinoff, an opthalmologist with the Canadian National Institute for the Blind’s Ontario Medical Mobile Eye Clinic, is that we have limits on health care budgets. He says, “Money goes to diseases suffered by the many, not the few. If more money is available to treat cataracts, that usually means less is available for cornea transplants.”

Canada’s lack of a national comprehensive strategy toward diagnosis and treatment of rare diseases means there is no mechanism to pay for the expensive treatments patients will need, he says.

As our knowledge of genetics and genetic disease increases, so will the demand for research funding, new diagnostic modalities and new treatments. According to an article in The Medical Post by Celia Milne, February 22, 2008, “Navigating the murky waters of genetic testing” the numbers of genetic tests available-well into the thousands- is exploding. She writes that, “Soon molecular testing will predict what diseases patients will get, how their bodies will metabolize drugs and what foods they should avoid.”

With spotty access and limited resources in Canada, some patients are turning to private facilities in the US but without doctors as gatekeepers, information can be ambiguous or “even dangerous” she writes, “breaking families apart, jeopardizing careers and insurance coverage, and making patients scared and even suicidal.”

As much as knowledge is empowering, we need to identify when these genetic tests are valuable to patients and when the testing can truly make a difference to a patient’s life. Canada does not have a national system of genetic testing. Once again, just like cancer medication funding, provinces fall into “haves” and “have-nots”.

Resource pressures are not likely to go away with new frontiers opening up in genetic testing. Not only are there more genetic tests appearing, sometimes with daily reports on new discoveries including genetic links to autism, diabetes, breast cancer, Alzheimer’s disease to name just a few, but genetic counselling is growing rapidly in importance. Most recently as reported in the Ottawa Citizen February 29, 2008, Edmonton researchers have discovered a gene that may block HIV from spreading and which could prevent the onset of AIDS.

More genetic testing, more genetic based medication and more human resources to make sense of the genetic picture will be required. Although there are only 250 genetic counsellors across Canada, the demand is huge. They help couples decide family planning issues and can screen entire communities for susceptibility to common diseases such as type 2 diabetes. Some rare disorders affect the elderly more than the young and with an aging population we can expect rare diseases to be a growing problem.

How will we fund the genetic testing or the medication that may be life-long and likely expensive? How will we regulate this huge emerging industry? Who will be the providers to make sense of the myriad of genetic information that will be available?

How will our system provide for more chronic disease treatments related to rare disorders that exist now and that will be identified in the future?

How can our system cope with even more long term treatments for diseases that are neither preventable nor curable?