Okay, thank you.
Patients or their parents deserve an answer as to their underlying condition. One can only imagine the significant guilt carried by parents of a child with an undiagnosed condition.
A diagnosis is the first step to understanding the natural history and prognosis of the disorder. Receiving an appropriate diagnosis can secure access to services in the school or community, appropriate medical surveillance, and on some occasions an underlying treatment. A diagnosis allows patients the opportunity to reach out to similarly affected individuals locally, nationally, or internationally through the form of patient support organizations. Finally, for genetic conditions, a correct underlying diagnosis can help clarify genetic counselling for the patient and other family members.
Orphanet is the world's online reference portal for information on rare disease. The portal is accessed internationally more than 20,000 times a day. Particularly for individuals diagnosed with a rare disease, it represents a comprehensive database of information, which can contribute to improvements in the diagnosis, care, and treatment of patients with a rare disease.
With support from the Canadian Institutes of Health Research, CIHR, Orphanet Canada with Canadian-specific content is now available. It provides Canadians with access to services in French and English related to rare disease, including an inventory of orphan drugs, a directory of services, clinics, laboratories, research projects, registries, etc. Canada was the first country outside Europe to formally join Orphanet, although in the past year Orphanet has become increasingly global with participation from Japan and Australia among others.
Since our formal launch, announced by the minister in October 2012, we have contacted over 350 stakeholders, and currently have validated information on over 70 such groups on our site. It is our desire that Orphanet increasingly be recognized in Canada by patients and physicians alike as a valuable early and ongoing resource for those with a rare disease.
However, even this basic information is not available to those individuals with a rare disease that has not been diagnosed. It's long been recognized that even in the best equipped medical genetics clinics in Canada or worldwide, more than 50% of patients do not receive a correct underlying diagnosis. There are many reasons for this, including the fact that the condition may be so rare that it has not even been discovered yet, or that the patient's presentation is atypical in some way, so that the diagnosis is not obvious.
Our current approach to genetic tests relies heavily on arriving at a best guess clinical diagnosis and then arranging specific testing for one of the over 20,000 genes in the human genome, with each test currently costing $1,000 to $3,000.
Internationally, there are currently about 2,500 genes for which testing is available, and of these, about 150 tests are available in Canada. As a result, provinces spend a significant amount of money, $18 million in Ontario alone in 2011, for genetic testing done internationally. Each province has developed its own approach to the issue, and access to such testing is quite asymmetric nationally. T
This “diagnostic odyssey”, which refers to the process, often takes years, and the cost for many patients is in excess of $10,000 to arrive at a diagnosis.
Within the last few years a new technology, next generation sequencing, has made it possible to sequence the entire genetic code of an individual in a more timely and cost-effective manner. It can be viewed as 22,000 genetic tests at once.
This technology has been leveraged very successfully by a recent Canadian consortium funded by Genome Canada and the CIHR, entitled FORGE Canada. Through remarkable collaboration of all genetic centres in Canada, this group was able to identify over 180 rare pediatric genetic disorders affecting hundreds of children in Canada and internationally. We were able to identify the genetic basis for 77 of these, and in the process to discover 45 new genes. This shows the value of this testing and collaboration in reaching a diagnosis for families.
These tests are available on a research basis at a cost of $2,000, and now commercially in the U.S. at a cost of approximately $10,000, but these costs should drop in the future. This testing should benefit thousands of Canadians moving forward. However, implementation of these tests clinically will not be trivial. It will require investing in infrastructure, developing approaches to data management and sharing, dealing with unexpected or incidental findings while remembering that we're sequencing a patient's entire genetic code to arrive at a specific diagnosis, and educating countless Canadian physicians and health care providers about these new technologies and their implications.
Of course arriving at a specific diagnosis is also critical in the selection of therapy. Of the approximately 3,500 known genetic rare diseases, only about 200 therapies are currently available. Health Canada's modern framework for the development of orphan drugs in Canada is certainly welcome and essential.
We should not forget that discoveries of drugs with major importance for the general population have often been made by first studying patients with a rare disease.
One such example is the development of the now widely prescribed statin drugs for high cholesterol, which were first studied and developed for patients with rare genetic forms of high cholesterol.
We often hear of the implementation of personalized medicine into health care. Individuals with rare disease require personalized medicine now, and it is anticipated that the implementation of new technologies currently used to diagnose and guide care for patients with rare diseases will ultimately be applied to all Canadians to understand the personal aspects of their disease, as well as their response and side effects to therapies.
I want to conclude my remarks with an international perspective. In 2011 the International Rare Diseases Research Consortium, IRDiRC, was launched. This consortium has as its ambitious goals 200 new therapies for rare diseases and a means to diagnose the rarest diseases by the year 2020. Members of this consortium consist of organizations that have committed to invest $10 million or more over five years to research projects and programs related to the international rare disease consortium's objectives. Member groups include the European Commission, several of the U.S. National Institutes of Health, and importantly for us, both Genome Canada and CIHR.
The executive committee is currently chaired by a Canadian, Dr. Paul Lasko, scientific director of the CIHR, as is one of the three scientific committees of this body. IRDiRC held its first meeting in Dublin in April 2013. Canada was well represented with over 15 individuals from CIHR, Genome Canada, Health Canada, CORD, and academic medicine attending.
It's important for us to realize that the rare disease community is a global one, and collaboration will be essential to describe new rare diseases and identify the underlying basis to allow for diagnostic testing, to provide support for patients across borders, and to lead toward development of new, rational, and cost-effective therapies.
Canada is exceedingly well positioned to be a major leader in this field, with the realization that collaboration is critically important in areas of science where historically competition has been the norm.
I thank you for your attention to my initial remarks. I am optimistic for a future where, within Canada's health care system, patients and their families affected by rare diseases will be able to access a timelier and more cost-effective diagnosis, coupled with access to rational and affordable therapies. Our patients deserve this, and ultimately it will be associated with a healthier and more productive population.
Thank you.