In recent years, great strides in research have been achieved in the field of rare diseases in Canada and internationally. In particular, a number of Canadian biopharmaceutical companies and institutional researchers have developed drugs for rare diseases (DRDs) that are saving and improving patients’ lives. Many others are at the cutting edge of genetics research and personalized medicine, and are bringing forward the promise of life-saving medicines for Canadians impacted by rare disorders with no current therapies for their condition.
Significant scientific progress has been made in Canada and abroad. Research and development, commercialization and patient access related to DRDs is, however, more challenging than conventional therapies and medicines. As Canada starts to address some of the challenges, stakeholders in the rare disease community are working together to ensure the policy and regulatory environment promotes innovation in the area of rare diseases. This type of environment will enable researchers and biotechnology companies to find better health care solutions for patients suffering from severe conditions so that they can have access to the same high quality of treatment as other Canadians across the country.
Over the last thirty years, many countries have adopted measures to promote the commercial development of DRDs and facilitate patient access to these treatments. Against this background, and given recent developments in the area of rare diseases in Canada, it is timely to assess what has been accomplished so far and to seek to align all the elements required to implement a successful public policy for DRDs in this country.
This paper starts by presenting the context related to orphan diseases and drugs and proposing core principles to help guide the development of DRD initiatives. The paper then explores five elements that need to be included in a comprehensive approach to DRDs, namely: (1) research; (2) regulatory environment and intellectual property; (3) health technology assessment (HTA); (4) reimbursement; and (5) health system adoption.
The purpose of this paper is not to provide complete solutions to all challenges posed by DRDs, but rather to raise opportunities and considerations on how to best move forward in improving the development of, and access to, DRDs in Canada.