NZORD calls for genetics to be incorporated into public health planning

While supporting the overall direction and most of the specifics in the Public Health Action Framework, we have concerns that some important areas of existing and potential public health action are not mentioned in the document:

Newborn screening and prenatal testing/screening.

Both of these areas of activity are significant methods of controlling incidence, mortality and morbidity through the "whole population" approach that is taken in providing these services. Though they are actively funded by the personal health directorate and managed through DHBs and other health providers, we think it is important that their existence and impact as an important public health measure, is noted in the framework.

Potential for significant public health action from knowledge of genetics.

In the diagram on Determinants of Health (page 19), hereditary factors are noted in the core, along with age and sex, but the action plan does not elaborate further on how the increasing knowledge of genetics can be factored into a public health approach to managing the impact of hereditary factors. There are significant examples worldwide of population based responses to genetic factors leading to significant reduction in inherited diseases. The Tay-Sachs carrier-screening programme in the Ashkenazim Jewish population is one well-known example. Other examples include successful programmes in Iran, Sardinia and Cyprus to control the incidence of Beta-Thalassemia.

NZORD considers that the potential for such programmes to be developed for other inherited diseases, increases in significance as genome knowledge rapidly increases, and the potential for significant public health action to grow in the area of genetics. It is likely that such programmes will become feasible for diseases that do not have the high penetrance of the examples given above, and that programmes will become realistic for less common disorders. Also, programmes that identify genetic predisposition to health problems, and opportunities for compensatory health initiatives in the existing population, may become as significant as those which currently identify carrier risk and imply prevention measures.

Once again, the likelihood of such genetic screening programmes in New Zealand being managed by other parts of the health system rather than directly operated by the Public Health Directorate, should not exclude these potentially significant opportunities from being at least acknowledged in the framework, as areas of potential development.

Public education about genetics.

Similar issues are noted in relation to public education programmes that enable individuals, their families and their wider community, to understand more about risks and potential for managing that risk, once an inherited disease has been identified. This is important because inherited diseases do not just affect individuals. They have an impact on wider family and potentially on whole communities. Currently most of that work is done at an individual family level by the Genetics service or other specialists, and they are very constrained by the resources they can invest in that effort. Another important aspect is the work of patient/family support groups in providing support and information.

While it would be wrong to overstate the speed of developments in this area, there can be little doubt that the sure and steady growth of genome knowledge and advances in biotechnology, mean there is increasing potential for whole communities to know more about their risks and to be active participants in managing those risks. The public education side of genetics thus becomes an increasingly important consideration.

The increasing significance of rare diseases.

In our first submission on the public health discussion document, we elaborated on this aspect. Though it seems at times that issues like SARS, meningitis and bioterrorism might totally undermine our arguments, there can be little doubt that when diseases that are individually rare, are considered in their collective numbers and impact on society, they represent a growing proportion of the total health and disability problems in society.

We urge you to note the responses adopted in the US and the European Union where targeted research funds for understanding the basic causes, schemes to promote clinical trials, incentives for the production of orphan drugs, and the provision of significant information resources for clinicians and the public alike, are all part of a comprehensive package of efforts to control the collective impact of these diseases. The information strategies certainly fit the definition of a public health response, and similar additions to our public health action framework would make it a more robust document.

Also of note is the level of co-ordination in the US and Europe between their major research funding bodies, health policy agencies and patient advocacy organisations, in implementing all aspects of this approach.

The summary of the public health policy for rare diseases, set out in the European Commission’s health strategy gives a good overview of the formally adopted public health approach of the European Union to the impact of rare diseases in Europe. This summary reflects the comprehensive approach adopted in the US.

Looking at the big picture, rather than a narrow focus for public health action.

The framework is significant for the way in which it has taken on wider issues like housing, poverty and employment in its scope. This is a very positive move. To continue with this broader vision, it is time to add a significant section on inherited rare and genetic diseases, and start a systematic approach to dealing with the public health issues associated with them.

The importance of national leadership and co-ordination of effort.

An important aspect of the Public Health and Disability Act is the emphasis on organisation at either a local, regional or national level, according to the optimal arrangements for the most effective delivery of properly co-ordinated health services. Experience to date suggests a tension between funding most services at a local level through DHBs, and the need for a national focus on the provision of many specialist or specialised services that must serve the whole population. Even if some services we have described may be delivered through DHBs or other providers, we think it is important to retain national leadership and co-ordination of these important matters. We would not have confidence that individual DHBs would take initiative on these matters, nor that national consistency could be provided through responsibility being left with DHBs.

Thank you for the opportunity to contribute to this discussion.

John Forman
Executive Director