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New Zealand Organisation for Rare Disorders

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Press Releases and Submissions

Press Releases and Submissions Index: Medicines Strategy signals significant changes / Submission to Ministry of Health on tobacco displays / Minister helps to rescue genetic services report / Submission on the Public Health Bill / 2008 Genethics competition launched / Xenotransplantation clinical trial / Storage and use of Guthrie cards / NZORD’s submission to NZ Food Safety Authority – August 2009 / TVNZ coverage of the folic acid debate

Minister intervenes to rescue the Genetic Services report and initiate rare disease policy work - March 2008.

NZORD is delighted to report a very successful outcome to our recent briefing with Health Minister David Cunliffe. We have been pushing hard for the implementation of the genetic services report since its publication by the National Health Committee in 2003. We have also promoted the need for centralised responsibility for policy dealing with rare disorders. Both items were agreed to by the Minister.

Breaking the log-jamb of official neglect of rare disease clinical care, treatment issues, and information, has been a long-term priority for us. The Minister’s positive response has given clear direction to officials to make progress, and we are very pleased that he has given an undertaking that we will be involved in the development of this work.

At the meeting we acknowledged significant progress since our last Ministerial briefing two years ago, with the following important policy initiatives:

  • Reviewing ante-natal screening
  • Funding of pre-implantation genetic diagnosis
  • Development of a Medicines Strategy
  • Introduction of newborn hearing screening
  • Folate fortification of food to prevent neural tube defects
  • Work to put a Carers’ Strategy in place
  • Expanding newborn metabolic screening

These are all matters of great importance to NZORD and those we represent. Progress on them has been most welcome but a key message to the Minister was the need for a more centrally coordinated approach to these policy issues, avoiding the often piecemeal way in which things happen, and addressing the seriously outstanding issue of the genetic services report.

Here are extracts from the briefing we discussed with the Minister at our March meeting. Though we did not get full agreement to the first request (our top priority long term objective) we are very pleased with the Minister’s support for requests 2 and 3, and his direction to officials to take prompt steps to report progress to him. This is an extremely good outcome for NZORD and all people affected by rare disorders.

To Hon David Cunliffe
Minister of Health

Briefing and request from the NZ Organisation for Rare Disorders

NZORD seeks your consideration of the issues covered in this briefing and in particular our priority requests:

  1. that the Government recognises rare diseases as a significant public health issue with a suitable policy response.
  2. that the Government appoints an individual or group with responsibility and authority to coordinate policy relating to rare diseases.
  3. that the Government implement the Molecular Genetic Testing Report (National Health Committee October 2003) as a first priority item. The cost of this programme is estimated to be $2.5m per year. It would benefit hundreds of families every year by providing the core expertise needed to intervene to avoid mortality and serious morbidity.


While we support the energy and focus in the government’s approach to health, there are a number of important issues that are not well served by the ‘broad brush’ policy approach, nor by the Ministry’s implementation of policy.

While thousands of conditions are individually rare, the collective impact of them is approximately 8% of the entire population affected by a rare disease at some stage of their life, with most of them genetic in origin. We believe that for every affected person, at least two other people in the household are also affected, (often profoundly so, given the severity of the rare disease) which makes rare diseases a much bigger health and social problem than is commonly recognized. Yet most of these disorders are neglected in both policy frameworks and service delivery.

The result of this neglect is a growing disparity in health status, driven, not by socio-economic status or ethnicity, but by genetic makeup.

The key problems are:

  1. The existence of 21 DHBs leads to significant problems in the provision and coordination of some secondary and most tertiary services that are essential components of good health care for those with genetic and rare disorders.
    • Patients with conditions that are complex and/or chronic often require tertiary level services that are difficult to access in some parts of the country. e.g. Paediatric neurology or specialist metabolic services. 
    • It is clear some DHBs have difficulty addressing inconsistencies in available care or are unwilling to address them and without greater central direction and coordination they are under no obligation to do so.
  2. The many versus the few.
    • Priority goes to those conditions with large numbers affected and a correspondingly high impact on health budgets. But that only increases the disparity in health status for many outside the majority.
    • This is especially so for many genetic and rare conditions where there is still not an acceptable baseline of services and expertise available.
  3. Public Health approaches to the health of the population have many potential benefits, but usually ignore the fact that a very significant portion of the disease burden in society is driven by genetic factors.
    • In these cases the priorities need to be adequate screening, diagnostics, specialist services and prevention measures, to reduce the disease burden.
    • For most genetic and rare diseases, secondary services are the most appropriate place for “primary” intervention to take place.
    • Many services to screen, diagnose and treat genetic and rare diseases are validated and effective interventions and capable of being implemented right now, but the will to implement them has been lacking.
  4. The primary health strategy provides important gains for general health in the population through early intervention, but that strategy is limited by an absence of training and experience in genetics to enable primary health practitioners to do more than symptomatic treatment for genetic diseases.
    • One solution to this problem is a strong specialist genetic service with the capacity to diagnose, identify risk, initiate treatments and to educate and support primary health professionals in ongoing clinical care – all supported by quality specialist services to back them up or take over when appropriate.
    • It is now four years since the National Health Committee report on the development of Genetic Services for New Zealand. Continued delay in implementing this puts families with genetic and rare diseases at a severe disadvantage in health provision.
  5. Disability support services are tightly bound up with the health status of many people with genetic and rare diseases. For most of them the disability they have is disease-driven, yet disability policy has a strong social model framework with a focus on social issues and barriers.
    • The social model is an important truth for many disabled people, but it is inadequate for dealing with the reality of the even greater numbers coping with disease-driven disability.
    • The inter-connectedness of health status and disability should be re-established as a key factor informing an integrated health and disability policy. This means rejecting both the old “medical” and newer “social” models in favour of an integrated holistic model.
  6. Access to medicines is a significant issue for many people with rare disorders, as the drugs are often high cost and fail to meet current cost-effectiveness criteria set by Pharmac.
    • We are pleased to note the work underway to establish a medicine strategy for New Zealand. NZORD has contributed significantly to this policy work. We hope this will lead to greater recognition of other issues besides cost effectiveness, including ethical obligations and legal duty, equity, best medical practice and standards of care.
    • In order to introduce equity of access to health care and medicine, and to avoid increasing the disparities faced by this segment of the population, it is important to establish a distinctive set of rules for “orphan” drugs.
    • The government’s plans to establish a medicine strategy is an important opportunity to address these issues and to ensure that the utilitarian approach to allocation of the budget is based on a sound “sophisticated utilitarianism” that is consistent with New Zealand values, rather than the “crude utilitarianism” that prevails at present.
  7. New Zealand should follow the lead of North America and Europe where public policy had noted the collective impacts of rare diseases as a “major public health problem”.
    • In both places there are specific policies, dedicated budgets for research, diagnosis, development of therapies and clinical care, information and education strategies, and orphan drug rules to ensure access to therapies.
  8. The need to future watch.
    • We ask you to establish a future-watch group to review emerging treatments, research, technologies and innovative practices for genetic and rare diseases, for possible application in the New Zealand.
    • Existing technology implementation procedures in the health system are more about coordinating DHB uptake and managing financial risk. They do not have an outward-looking approach to capturing the best in a timely way, and they tend to act generally as a block to progress, especially so when the less common is concerned.
    • Many possible innovations that could improve the health of the nation and efficiency in health care delivery are often slow to arrive here.
    • Similar future-watch schemes are set up in areas of risk such as Ministry for the Environment. The principle should also be applied to areas of positive gain, and health is a perfect place to broaden this approach because of the potential for rapid spread of benefits.
    • We specifically recommend that an individual or committee is given the responsibility for cross-directorate leadership on matters relating to innovations and technology for genetic and rare diseases. Despite recent changes in the Ministry of Health there is still fragmentation of rare disease interests across many directorates and agencies. Positive progress will occur only when these are centrally co-ordinated and led.
  9. NZORD priorities.
    1. Recognise rare disorders as significant public health problems that require a planned approach to services, including:
      1. Incorporating genetics education and information in Public Health action plans.
      2. Review secondary and tertiary services governance and delivery to ensure appropriate access across New Zealand, and adequate training in genetics within clinical specialties.
      3. Establishing of a co-ordinating and future-watch group.
    2. Implement the 2003 Genetic Service report from the National Health Committee, to bring genetic services in NZ up to an acceptable base-line.
    3. Ensure the proposed medicine strategy produces equity of access to medicines for all New Zealanders, with appropriate priority for those with the most serious conditions and urgent needs.
    4. Improve ante-natal screening guidelines and practices for diseases transmittable from mother to baby and ensure newborn screening options are promptly implemented when validated.
    5. Review the NZ Disability Strategy to give a more balanced approach to the issues faced by all disabled people, in particular by embracing an holistic model of integrated health and disability issues for the majority of disabled people.
    6. Establish a New Zealand public good cord blood bank for future transplants and other therapeutic uses.

In summary, we recommend a best practice approach to policy, service design and implementation for genetic and rare diseases. New Zealanders accept nothing less in surgery and screening programmes and we should not have to settle for low standards and significantly delayed implementation in health services for those with rare disorders.

Yours sincerely,

John Forman
Executive Director