Charities Commission Registration CC22512

International Genetic Alliance

Policy statement on the need for improved information, diagnosis, clinical care and treatment for rare diseases.

(NZORD is an active participant in the International Genetic Alliance and played a lead role in the drafting, promotion and consultation on this document prior to its adoption by the IGA in March 2006)

Introduction

There are more than 6000 and perhaps as many as 8000 different diseases that occur less often than 1 in 2000 (European Union definition), or affect fewer than 200,000 Americans (US definition which is approx 1 in 1400).  The vast majority of these rare diseases are genetic in origin. Some are solely determined by our genetic makeup but most arise from genetic susceptibility compounded by environmental impacts. Non-genetic causes include parasites, viruses, trauma, etc.

Rare diseases share many of the same problems and challenges as genetic diseases. These include privacy of information, ethics and consent issues, professional/patient relationships, reimbursement of treatment and drug costs, and access to quality treatment and care. However the rarity of these diseases can create special problems for affected populations:

• Difficulty in obtaining accurate diagnosis
• Lack of experience to treat
• Good information is harder to find, for professionals and families
• Research is less likely to occur than for common diseases
• Developing medicines may not be economic for companies
• Treatments are often very expensive
• In developing countries the problems are compounded by poverty, scarcity of medical expertise and other resource limitations.

Rapidly expanding genetic knowledge and technological advances are greatly improving our ability to intervene in a very wide range of health conditions, including rare diseases.
In order for this potential to be realized it is essential that rare diseases are the subject of a particular focus in health policy and in service delivery if the needs of those affected or at risk are not to be overlooked.

In the US and EU, legislation to promote orphan drugs and medical devices for rare diseases has had clear and identifiable benefits in bringing a number of treatments into clinical practice. However many challenges lay ahead as many more rare diseases remain unresearched and untreatable. Treatments for some remain unaffordable.

Key principles

1. Rare diseases are a significant public health issue. They affect around 8% of the population and when the immediate family is factored in, rare diseases impact on nearly 25% of the population.
   • In many countries 8% is equivalent to the size of significant minority populations. Just as leaving the health needs of such a population unmet would be unacceptable and discriminatory, so is the neglect of equivalent populations affected by rare diseases.
2. Health care and treatment for rare diseases is a human rights issue. Non-discrimination, justice and equity of access to health care, all require that specific policies are put in place to address the needs of people affected by rare diseases.
   • Responses such as prioritisation and the need to ration resources, as reasons for lesser attention to rare diseases in health research, planning and service delivery, are not ethically sustainable arguments.
3. A comprehensive approach to rare diseases is needed, including education, research, prevention, diagnosis, care and treatment.
   • Services and support for patients and families need to be holistic and integrated to provide for the many health, disability and social issues often associated with them.
4. Quality information, informed consent and autonomous decision making are critical for upholding the rights and the protection of patients and their families in all aspects of treatment, research and prevention.
   • Combining genetic knowledge with newborn screening, pre-natal screening and other detection methods to identify risk, should be actively pursued to give parents choice about prevention, but this must be balanced with careful attention to informed consent and autonomous decision making.

Implementation

Patient and family advocacy and support groups expectations of governments, health systems, research institutions and industry, in relation to rare disease policy issues are as follows:

1. Governments should recognise the impact of rare diseases as a significant public health problem, and require their health systems to adopt action plans to deal with them.
2. Governments should adopt policies that aim to achieve equitable allocation of resources towards all aspects of rare diseases, including research, clinical care, information resources and development of treatments. Targeted budgets for orphan drugs and rare disease research, the development of specialist services, and information services for professionals and the public, are just some ways this can be achieved.
3. Governments and health systems should recognise that priority setting towards common diseases with high impact in total costs and in numbers of people affected, will create disparities in health status for populations affected by rare diseases, unless specific counterbalancing policies are put in place to meet their needs.
4. Governments should recognise the human rights issues inherent in rare disease care and treatment. They should adopt the principle that the frequently higher unit costs for rare diseases should not be grounds for denying access to services or therapies, and that specific programmes and policies will be needed to protect those rights.
5. Health economics criteria should take account of the personal, social and economic benefits of treating diseases, even where the unit cost of treatment may be more expensive. Recognising these wider factors will improve the cost effectiveness assessment for many higher cost interventions that also have significant benefits in clinical effectiveness.
6. Research policies should note the specific benefits of research into rare diseases, especially single gene disorders, as an extremely valuable means of gaining information about the cause of more common multi-factorial diseases. Taking advantage of this for the benefit of the whole population implies weighting of basic research funds towards rare diseases, in particular where high quality animal models offer opportunities for understanding disease processes.
7. Governments should recognise the specific problems of rare diseases in developing nations, and investigate ways in which support with screening, diagnosis, treatment and clinical training can be provided in aid programmes or other arrangements.
8. Governments should offer incentives to encourage development of orphan drugs by industry, as has been done in the US and EU. However there is a need to recognise problems with the development cost of such treatments. Regulatory and clinical trials requirements are key drivers of those costs and reviews need to be made of these on the basis that risk management can be approached differently for small numbers and very serious diseases, compared to treatments for whole populations.
9. Governments, researchers and industry should recognise that gaining knowledge of disease processes is as highly relevant to possibilities for prevention, as it is to treatment of those with the disease. This means that opportunities to prevent serious rare diseases should be a priority in research even if developing treatment for that disease is a significant challenge.
10. Criteria for newborn screening and ethical controls for other predictive testing need reconsideration in the light of changes in knowledge of disease causes, patient and support group awareness and prevention possibilities.
11. Health systems should note a changing dynamic in the role of patient advocacy groups. These provide important information and support and they should be resourced by governments and health officials to carry out this important role. They should also be directly involved in advisory groups and expert panels set up to consider specific policy options, ethical controls, risk management and service planning.
12. Good information is an essential component of good health care. Information technology enables some people affected by rare diseases to rapidly access good information on their disorder and to become an expert in managing their own health, in partnership with their health professionals. Development of information networks and support group capacity is an important aspect of widening access to this information to the whole community.
13. Industry should be encouraged to increase its public good contributions to rare disease knowledge. In particular, industry should examine its intellectual property holdings and consider public good donation of products or techniques that may have little commercial application, but which may offer great opportunities for understanding or treating rare diseases.