Rare Disease - Governmental Agencies
Four major global governmental agencies were identified in this research: the European Commission's Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases; the United Kingdom's Rare Disease Policy Board; the U.S. Office of Rare Disease Research; and Canada's Health Canada. These organizations and their respective roles area discussed in more detail below.
Government Agency 1: The EU Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases (European Union)
- The Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases ("the Steering Group") is a branch of the European Commission. It supports European member states to reach the health targets outlined in Europe's Sustainable Development Goals. The group focuses on four main policy areas and one of those is r are diseases.
- The Steering Group aims to improve access to diagnosis of rare diseases, provide information about rare diseases to the public, and improve access to rare disease treatment options. Examples of recent accomplishments of the Steering Group include recommendations to the European Commission for measures that would improve sharing diagnostic resources among member states (2015), recommendations to member states to better incorporate rare diseases into their domestic health policies (2016), and financing a research project aimed at better informing European member states' policies with respect to rare diseases (2017).
- In addition to continuing to coordinate member state action on rare diseases, the Steering Group plans to fund research on rare diseases through the program Horizon 2020. The program will make €900 million available for research on rare diseases over the next 7 years.
Government Agency 2: U.K. Rare Disease Policy Board (United Kingdom)
- The U.K. Rare Disease Policy Board is responsible for overseeing the implementation of the UK strategy for rare diseases in the four countries that make up the U.K.: English, Wales, Scotland, and Northern Ireland. The board is made up of a number of stakeholders, including individuals from the national Department of Health and Social Care, the National Health Service, the Scottish, Welsh, and Northern Irish governments. It also includes doctors and patients suffering from rare diseases.
- In the past few years, the policy board has had a number of accomplishments, bringing the UK closer to fully implementing their rare disease strategy. The board completed implementation plans in each of England (2018), Scotland (2014), Wales (2015), and Northern Ireland (2015). The board also supported a rare disease forum conference in 2017 that brought together industry, policy-makers, patients, and researchers. And, in 2018, they supported a survey of patients with rare diseases, the results of which will inform the work of the policy board.
- Future goals include participating in the creation of a National Genomics Board which would support gene research, improving collaboration between the four nations of the United Kingdom, working to create platforms that improve the sharing of research data, and maintaining partnerships with European research communities as the UK leaves the European Union.
Government Agency 3: Office of Rare Disease Research (United States)
- The Office of Rare Disease Research (ORDR) is an agency established by US federal government legislation under the National Institute of Health (NIH). The office is located within the NIH's National Center for Advancing Translational Sciences (NCATS). It is responsible for coordinating and overseeing NIH activities related to rare diseases.
- Among the primary tasks of the ORDR is maintaining a database on rare diseases, liaising and collaborating with international rare disease organizations, and responding to information requests from other government departments to inform rare disease policy. The office oversees several programs related to rare diseases, including the Genetic and Rare Disease Information Center (GARD), the Rare Disease Registry Program (RaDaR), and the Rare Disease Clinical Research Network (RDCRN). GARD provides information to the public about rare diseases, RaDaR guides rare disease researchers with keeping and maintaining databases and registries of rare diseases, and RDCRN supports researchers to conduct and disseminate high quality research on rare diseases.
- Some recent accomplishments include providing $1.5 million in grant funding in 2019 for clinical researchers working on rare diseases, launching a rare disease awareness contest in 2018, and, in 2016, launching the Biomedical Data Translator to make research data on rare diseases more accessible.
- The office and its programs have several goals for the future. One is to move away from an approach where one treatment to rare diseases is developed at a time, and instead pursue an approach that looks at disease commonalities. They hope this strategy will allow treatment development to happen more efficiently. Another goal is to support research on rare diseases by developing patient registry systems that are scalable and patient-centered.
Government Agency 4: Health Canada (Canada)
- Health Canada is a Canadian federal government agency that is broadly responsible for ensuring that Canadians stay healthy. It is responsible for advising on and creating health policy throughout the country, providing health information to the public, conducting health research, and approving food and products for sale in Canada.
- With respect to rare diseases, Health Canada advises and makes national drug policy and provides information to the public about rare diseases and various treatment options. They also play an important role in making treatments available for rare diseases because they are the body that approves drugs to be sold in Canada.
- In the past 5 years, Health Canada has harmonized regulatory requirements for drug manufacturers with other international jurisdictions so companies applying to have their rare disease drugs approved can apply only once. For example, Health Canada developed a common drug approval application portal with the US Food and Drug Administration. This has improved the efficiency of the orphan drug approval process.
- In 2016, Health Canada also launched a review of the regulations around the approval of drugs for rare diseases in Canada. The aim of that review was to find opportunities to make the regulatory process for these drugs even more efficient. Then, in 2017, Health Canada approved 16 drugs for the Canadian market that are used to treat rare diseases.
- The Canadian government, through Health Canada, plans to do more for the future: they plan to create a national drug agency that would help coordinate bringing access to orphan drugs to Canadians and they further plan to invest $1 billion over 2022 and 2023 to fund a national strategy for rare diseases that would make treatments for rare diseases more accessible.
The research team defined government agencies as any agency that was directly affiliated with a governing body—either national or international. This included government departments (like Health Canada), as well as institutions directly created by, or linked to, national or international governments, like the Rare Disease Policy Board in the U.K., and the E.U. Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable Diseases. All organizations that were established by government legislation were also considered government agencies, which includes the U.S. Office of Rare Disease Research.
The research team was asked to look for "major" governmental agencies. Agencies were determined to be "major" when they influenced national or international policy and outcomes for jurisdictions that had populations greater than 30 million people. A population size of 30 million or greater was chosen because less than 20% of countries have populations this big; these countries represent the top fifth largest countries by population. Each of the four organizations listed above directly influence national policies and have international reach. The European Steering Group influences polices of the 28 nations that are members of the European Union. The U.K. Rare Disease Policy Board influences policy in each of the 4 countries that make up the United Kingdom. Both the Office of Rare Disease Research in the U.S. and Health Canada influence national policy in their respective jurisdictions and also have international collaborations. Further, the populations for each of the jurisdictions represented by the above organizations exceeds 30 million: Canada's population is about 35 million, the U.K.'s population is about 65 million, the population of the U.S. is about 326 million, and the population of all the European member states together is about 513 million. Thus, it was determined that each of the above organizations can be considered to be "major" governmental agencies.
The research also required that we find agencies that "deal with" rare diseases. We determined that an agency "deals with" rare diseases if it plays a role in any of the following functions related to rare diseases: collecting data or conducting research, sharing data, engaging in actions that support prevention or treatment, making or advising policy, or providing information to the public. Among other actions, all the organizations included here make and advise on policy for rare diseases. They also all provide information to the public. Thus, they all met the criteria for inclusion.