Submission on the Public Health Strategy and Action Plan

Submission to the Ministry of Health Consultation on the Public Health Strategy and Action Plan - October 2002

NZORD is involved with individuals or very small groups of people who are often overlooked when population based approaches are taken to health and disability issues. But collectively they represent a very large number of people and very high health and disability cost to society. The key themes we wish to promote to you are:

1. Inherited genetic diseases (and especially rare ones) often suffer discrimination by neglect in health policy. Despite the obvious knowledge limits in earlier decades, this could also be described as the tyranny of the majority, by those more cynical.

2. As water-borne and infectious diseases are largely controlled by sanitation, vaccines, etc, genetic conditions come to represent a relatively larger proportion of society's burden of disease.

3. As with all past gains (hygiene, cross-infection control, vaccines, antibiotics, etc) there was a critical point when knowledge of the causes of the disease, and the technology to prevent or control them, came together to make health gains possible and a public health approach highly beneficial.

4. The burgeoning knowledge of the genome, and the rapidly advancing technology for testing, screening, treating, and in some cases curing genetic conditions, means the time is right for a planned and co-ordinated public health approach to minimising the incidence and controlling the consequences of genetic conditions.

5. Our clinical genetics services are there but with limited resources. We are adding specialist metabolic treatment services, and improving child health services for those affected. We have disability support services, and health research strategies. But our public health approach is very limited.

6. Our only public health approach, newborn screening, is restricted to a limited range of disorders. More can now be done for early identification and intervention, but this has not yet been expanded. (example, screening for lysosomal diseases is now technically possible, is not yet done, but more than 66% of them have some treatment available now, with many more in development).

7. Opportunities for people to understand inheritance factors, and use this knowledge or testing to make informed choices that control their own risks, is very much in its infancy, due to limited clinical genetics services, and the absence of a public health approach.

8. Each severely disabled baby will cost society about $1 million in health and disability support costs. We suspect this cost is underestimated in health planning as much of the cost is "transferred" to disability budgets, but they are under severe pressure too.

9. The life-long trauma for affected families becomes a more tragic thing when opportunities to identify and control the risk are not made available.

10. As the strategy being developed is a 5 to 10 year strategy and action plan, it is vital that the combination of genome knowledge, biotechnology advances, and clinical advances, is factored into a plan for a public health approach to the management of genetic conditions. The speed of this knowledge gain, means the time to plan and act is now, not later.

11. In conjunction with this there will need to be a boost to the ethical debates and consultations to ensure appropriate standards and beneficence in the approach taken.

12. Figures are hard to find, but a conservative estimate based on US, European and other data about rare genetic conditions, suggests there is at least 5% of the population, and probably as much as 8%, who have significant health and disability consequences from a rare inherited genetic condition. It is obviously much higher when the "common" genetic conditions are factored in. The incidence, costs and the potential savings are significant. The opportunity for reduced morbidity is huge. Prevention strategies will also avoid significant infant mortality (currently at the same levels as SIDS), and avoid huge burdens and grief for families.

To add to the context of this submission we ask you to note the following:

1. The European Union in 1999 adopted a Programme of Community Action for Rare Diseases, as one of its 8 major programmes in public health.

2. In the US there has been a commitment to double resources for the National Institutes of Health and plans to boost the Office of Rare Diseases as part of capitalising on the genome knowledge, and a systematic attack on rare diseases on all fronts. They are also funding public information programmes about rare disorders, as part of this approach.

3. Significant Genetics Education programmes are established in other similar societies, e.g. New south Wales and Victoria.

4. A planned public health approach will dovetail nicely with a public willing to know more and control more about their own health.

5. People affected by rare disorders are keen to get out of the "too small, too few, too hard, too bad" basket. We have been stuck there too long, and the reasons for keeping our interests corralled there, are rapidly fading.

NZORD is a new organisation but has a network of over 70 rare disease groups and is developing regular dialogue with them. The themes above are consistent with the mandate given by over 80 people from more than 30 groups that attended our inaugural conference in Sept 2000, and with feedback since then.

We see our approach as perfectly consistent with the overarching goals of the NZ Health Strategy, and with some of the specific objectives of other detailed strategies, e.g. the Child Health Strategy. Adding a public health approach to dealing with rare genetic conditions, will improve the balance of resources committed to these problems.

We need some fencing work at the top of the cliff, so the ambulances down below have less to cope with.

John Forman
Executive Director