2007 Conference

The third NZORD conference was held at the Intercontinental Hotel, Wellington on 1 and 2 November 2007. Seventy people registered and these numbers included a range of researchers, health professionals, officials and representatives of 21 different support groups. Click here for the detailed conference programme.

Celebrating New Zealand science

Day 1 of the conference concentrated on a celebration of innovative research being developed and applied here in New Zealand. It was inspiring to see the wide range of original research and innovative practices that are improving diagnosis and advancing the ability to treat many diseases. The day offered reinforcement of the view that despite New Zealand’s geographical isolation and limited financial resources, we have top class researchers producing top class science and they are translating that into clinical practice.

The NZORD report

The good news…

Another feature of Day 1 was the NZORD report where we outlined progress made by NZORD over recent years towards the achievement of our mission. We described our core tasks of providing information, resources and support to individuals and groups; identifying issues needing policy consideration and providing input into the policy process by advocacy to officials and politicians; and providing input into consultations. There was good news to report in a number of new initiatives and policy decisions made since our last conference in 2004, and satisfaction in the knowledge that our representations helped influence the decisions for these steps to be taken. These included:

  • Funding for pre-implantation genetic diagnosis
  • Expansion of newborn metabolic screening from 7 to 27 conditions
  • A decision to implement a universal newborn hearing screening programme
  • Government commitment to the development of a Carer Strategy
  • A public consultation on the development of a Medicines Strategy for New Zealand
  • Progress with a review of ante-natal screening practices
  • A decision to implement folate fortification of food

And the bad…

Despite the good news, the NZORD report also identified some major challenges we face. There has not been an adequate response from government or officials to the need to recognise the significant public health aspects of rare disorders, nor sufficient action to ensure good co-ordination of many service and policy issues that need to be addressed to ensure an adequate and equitable response to their needs. Clearly identified as the top priority action point is the implementation of the National Health Committee’s report on Molecular Genetic Testing in New Zealand. It was dispiriting to have to report to the conference that this report is now four years old and has not had an adequate response by the Health Ministry or DHBNZ, the co-ordinating body for District Health Boards. The first action item to come out of the conference was a resolution to send an updated briefing to the new Minister of Health, seeking his support for our agenda for rare disorders. Click here for an update on this briefing and the Minister’s response.

New opportunities in newborn screening

The whole of Day 2 of the conference focussed on new opportunities in newborn screening. After an introduction of what screening is all about, we explored technical and ethical issues, discussed how decisions are made about screening programmes, and considered what we need to do to influence the criteria and the decisions. The presentations on Fragile X Syndrome, Lysosomal Diseases and Muscular Dystrophy gave insight into the changing technical capacity.

This discussion was in the context of the recent expansion of newborn metabolic screening since the introduction of the tandem mass spectrometer in December 2006. We noted that the screening programme in New Zealand had been a world leader in the 1960s in developing a consistent nationally organised screening programme, but in recent years had slipped behind other programmes in terms of the number of conditions screened for. A case study on newborn hearing screening implementation highlighted the barriers to quick decision making processes for newborn screening.

The discussions highlighted how the advances in technology bring ethical, social and service delivery issues into sharp relief and helped us realise that the decision criteria for screening programmes must be reviewed with some urgency. Of particular importance is a decision criterion that refers to possible treatment for a child that is “screen positive”, compared to the interests of families to know about a disease when a treatment might not be available, but where knowledge would be of considerable value in family planning. This issue was highlighted in several presentations and identified different perspectives that can be taken by families versus health professionals and officials. It is apparent that more dialogue needs to occur on these topics and that family perspectives need to have added influence in the final decisions taken.

A significant observation that emerged during the meeting was that sound science, confirmation of technical possibilities, satisfaction of ethical and social issues and well argued cost benefit analysis are frequently not enough to get the ear of decision-makers about new health interventions. It is apparent that lobbying and political pressures are often also needed.

The final resolution from the conference was a call for the government, Ministry of Health and National Screening Unit to work to restore New Zealand’s Newborn Metabolic Screening Programme to a position of leadership among programmes worldwide. In particular, we sought a review of screening programme criteria and decision-making processes to ensure that emerging opportunities for screening, such as Fragile X, Lysosomal Diseases, some Immune Deficiencies, and others for which the technological capacity is rapidly advancing, are captured early, decided upon quickly and, if appropriate, implemented promptly. These messages will be formally communicated to relevant officials and government.

Katie Archer