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NZORD briefing to the Minister of Health - May 2006

At a briefing with Health Minister Pete Hodgson on 11 May 2006, NZORD requested the following three priority actions:

1. that the Government recognizes 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.

Our briefing was well received by the Minister who declared particular interest in the fate of the Genetic Services report and how its implementation might be speeded up.

Here is the full text of the briefing given to the Minister and officials:

Hon Pete Hodgson
Minister of Health
Parliament Buildings
Wellington

NZORD Briefing to the Minister of Health

Dear Pete,

As the new Minister of Health you have inherited a portfolio where considerable effort has been expended in the last six years building stability and confidence in the health sector, and cementing in major new initiatives with an emphasis on primary health care. NZORD supports this.

However, there are a number of important issues that are not well served by the ‘broad brush’ policy approach that has been adopted by government, nor by the Ministry of Health’s implementation of policy. The issues are those which often seem on the margins, but which have a significant impact on the health and quality of life of significant numbers of people. We refer in particular to the needs of those with genetic and rare disorders.

While thousands of conditions are individually rare, the collective impact of them is that approximately 8% of the entire population is 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:

The existence of 22 DHB 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.
Of particular concern is the enthusiasm with which some DHBs talk about redirecting resources from secondary/tertiary services to primary care. While this is in line with Government priorities, there is a serious concern that redirection will occur at the expense of vital secondary and tertiary services.

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.

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.

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 well over two 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.

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.

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.
Problems with medicine access are highlighted by the absence of an over-arching medicine strategy for New Zealand. It is important to recognise many other issues besides cost effectiveness, including ethical obligations and legal duty, 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.

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.

Carer issues are an increasing problem for many families.
NZORD is working closely with the NZ Carers Alliance, the Minister for Disability Issues, Ruth Dyson and officials to develop a Carer Strategy for New Zealand. We hope you will offer your support to this policy work.

The need to future watch.
We urge you as Minister to set up 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 co-ordinating DHB uptake and managing financial risk. They do not have an outward-looking approach to capturing the best in a timely way, especially 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. Current responsibilities are spread between the National Screening Unit, Clinical Services Directorate, DHBs, Food Safety Authority, Public Health Directorate, Disability Service Directorate, and the Sector Policy Directorate; all with different responsibilities for different parts of the system related to our interests. Positive progress will occur only when these are centrally co-ordinated and led. 

NZORD priorities:

1. Recognise rare disorders as significant public health problems that require a planned approach to services, including:
   • Incorporating genetics education and information in Public Health action plans.
   • Review secondary and tertiary services governance and delivery to ensure appropriate access across New Zealand, and adequate training in genetics within clinical specialties.
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. Implement government funding of pre-implantation genetic diagnosis for couples at risk of inherited diseases in their family, and those facing repeated risk of foetal aneuploidy. (Funding announced December 2005 but still not available to couples).
4. Implement a universal newborn hearing screening programme for all NZ babies, and expand newborn metabolic screening. (Work is progressing but not yet implemented).
5. Implement best practice for ante-natal screening for foetal aneuploidy to improve detection rates and reduce foetal loss from current sub-standard practice. (Our current practices are scandalously bad).
6. Improve ante-natal screening guidelines and practices for diseases transmittable from mother to baby.
7. Review medicine policy to establish an over-arching medicine strategy that provides equity of access for all patient groups and works to redress the disparities in health status faced by many with rare disorders. Include orphan drug rules in this.
8. 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.
9. Implement folate fortification of flour to reduce neural tube defects.
10. Implement monitoring of sudden cardiac deaths in healthy people to assist identification of genetic risks in relatives.
11. Establish a New Zealand public good cord blood bank for future transplants and other therapeutic uses.

We estimate that the benefits of implementing the bulk of these eminently “do-able” service and policy initiatives (including funding commitments already made) is approximately $15 Million per annum to achieve gains for around 400 families each year in mortality and morbidity avoided. Given the fatal or very severe nature of most of the genetic and rare diseases referred to, that is a very significant gain indeed.

Comparing the cost benefits to the MeNZB vaccine campaign (which we strongly support) these gains would deliver around 4 times the benefits of that vaccine programme.

In summary, we recommend to you a stance where New Zealand health and disability services adopt a best practice approach to policy, service design and implementation for genetic and rare diseases. We 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