Charities Commission Registration CC22512

Some good news from the Ministry of Health - and some not so good. 4 March 2005.

In January this year NZORD wrote to the Director-General of Health urging a plan of action for a number of “do-able” initiatives to improve prevention, diagnosis and treatment for rare disorders. See details of our letter and the issue that triggered it.

We are pleased to note a prompt reply from the Ministry and particularly pleased with the number of items to which there is a positive response. We summarise some of them here:

New technology to expand newborn screening.
The Ministry has confirmed that agreement has been reached on the purchase of a tandem mass spectrometer, the piece of technology needed to improve screening accuracy and to widen the range of conditions that can be screened for. The Ministry will commence work with the newborn screening service and its advisory group to introduce expanded screening in a measured way and the end of 2005 is indicated as the timeframe for this.

Newborn hearing screening.
No final decision on this yet, but the Ministry is doing a formal evaluation of the pilot project in the Waikato and will be setting up an advisory group to develop options for a nationally coordinated screening programme, and reporting the results and options to the Ministers of Health and Education.

Guidelines on pre-implantation genetic diagnosis.
The formal evaluation of submissions has been completed and advice presented to the Minister of Health for her decision. A decision is expected soon.

Folate fortification of food to prevent neural tube defects.
Both the Ministry and the Food Safety Authority have supported mandatory fortification of food with folate, a vitamin supplement, and the work on this proposal is expected to be completed by October this year. The decision will be made by the joint food regulatory authority for Australia and New Zealand.

Implementation of the genetic services review.
The Ministry indicates that steps to prepare for the implementation of the National Health Committee report on genetic services for New Zealand will completed by June this year.

But the not so good news is………

Prenatal screening for abnormalities.
Work is proceeding to review existing screening practices and explore new possibilities, but there is no indication of any urgency about this matter. The last review group meeting was almost a year ago and no process is yet in place to progress this important work.

Umbilical cord blood bank.
The Ministry is not moved by the arguments to set up a publicly owned and operated bank here, and prefers to rely on overseas sources instead.

Access to orphan drugs for rare diseases.
Though the system does provide for waiver of registration fees for some drugs, and fast-track procedures to consider access to drugs for very serious illness, there is no provision for a separate budget to manage the invariably high cost drugs for rare diseases. This is the single most effective mechanism that could be implemented to improve equitable access to therapies by those with rare diseases.

An action plan for rare disorders.
Despite the significant pieces of good news received from the Ministry, the one policy that would make the most significant difference is still not on their agenda. That is the need for an action plan and a special budget to drive forward progress on a number of fronts to better understand, diagnose and treat rare diseases. This is the very approach that has been successfully put in place in the US and in the European Union. Their results are significant and measurable, and we are being left behind.

The many other priorities in health clearly show that progress on our concerns is always a second or third priority. Real progress can be made when a dedicated budget is made available to a group that has a mandate to get on with implementing the things that will make a big difference for our conditions. Till that occurs, there will be an ongoing lack of equity for those affected by rare diseases, and a continuation of the health disparities we face.