The 2nd Conference of NZORD, the NZ Organisation for Rare Disorders was held at Te Papa Museum, Wellington, Friday 28th & Saturday 29th May 2004
The conference theme, Partnerships for Progress was about families and support groups, working in partnership with clinicians and researchers:
- to make progress in understanding, treating and controlling the incidence of rare disorders
- sharing knowledge to create "expert patients and families"
- meeting the challenges of biotechnology, genetics and ethics
Conference report: NZORD Conference 2004 a Resounding Success
More than 80 people attended the two days of NZORD’s Conference 2004, with two-thirds of these being representatives of 25 rare disease support groups. The balance of participants were from research institutions, medical specialties, Genetic services, and health policy agencies.
Each of our sessions included speakers from research, clinical practice and family experiences and the combination of these produced very positive responses from all present. This model of conference, integrating the range of perspectives in its presentations, is consistent with our theme of Partnerships for Progress. Many successful conferences on health and disability issues now follow this model, allowing a shared learning environment and the addition of important perspectives often lacking in traditional specialised conferences. Interestingly, it is the professionals who find this model extremely helpful to their learning, and they invariably give very positive feedback about their conference experience.
Key themes emerging during the two days were:
- The value of research into rare diseases, particularly single gene disorders, as an important gateway to understanding common diseases.
- The significant contribution to disease knowledge and clinical care that can be made by families who gather natural history of their experience of rare diseases, and share this collected knowledge to spur the research effort.
- Animal models of human disease are very valuable tools in understanding the disease process in humans, and there are great opportunities for expanding and promoting the number of animal models available to New Zealand researchers. NZORD announced to the conference plans to develop an animal model bank to increase rare disease research in New Zealand.
- Research into rare diseases is more likely to occur when samples of tissue, blood, urine, etc are gathered together specifically for research purposes. NZORD announced plans to establish a human tissue Biobank based on voluntary contributions from New Zealanders affected by rare disorders, with the specific purpose of facilitating and encouraging research.
- Ethics is central to the protection of patient, family and support group interests in health and disability research, but the establishment of our Biobank requires a new perspective on the level of protection, consent and reporting requirements that should be required, when our Biobank is the source of researched material. In such cases we are promoters, collaborators and participants, rather than research subjects.
- Public health policy in New Zealand had not developed well in the area of population-wide impacts of genetic or rare diseases. Our genetic services are poorly developed and there is little recognition of the significant public health problem posed by the collective impact of all rare diseases. In North America and Europe public policy recognizes the major public health problem of rare diseases that affect between 8 and 10% of the entire population. Significant improvements are also needed in diagnostic, screening and treatment capacity for our diseases.
- The promise of better understanding and treatment of rare diseases, offered by biotechnology and genetics, is balanced by the slow and incremental way in which the ability to do these things, gradually meets the theoretical possibilities. Along the way there will be disappointments as well as detractors who try to prevent these innovations. We must ensure that the scientific and medical research continues without undue obstruction.
- Patients and families as potential beneficiaries of new advances in medicine, are also at risk of problems with the research, and so lay claim to a better informed perspective on safety and risk assessment of innovative research, than those motivated by political agendas.
- Pre-implantation genetic diagnosis is seen as a very powerful tool for the prevention of serious disease, while reducing the ethical concerns associated with other control measures. We note the significant delay in establishing this as an available technology in New Zealand, and urge its speedy approval by government.
- The ethical considerations for PGD have been thoroughly canvassed here and overseas, and we see no justification for delay in approving the process on those grounds. Associated genetic and laboratory services to support PGD should be given urgent attention.
- We consider the question of government funding of PGD to be a high priority. The emotional and economic costs of disease is a strong justification for government to spend on PGD, and equity of access requires government funding to avoid a disproportionate impact of serious diseases on less affluent populations over time.
NZORD’s conference concluded with unanimous support for the following resolution which was summarised from feedback sheets filled in by conference participants:
- That NZORD continue to build its profile as the umbrella group for rare disorders – to lobby government for recognition and funding; highlighting issues of access to good diagnosis, care and preventative technology.
- NZORD should support research efforts and lobby for greater emphasis on rare disease research. The conference in particular supports the development of the NZORD Biobanks.
- The conference endorses the value of gatherings such as this one, bringing together families, researchers, clinicians and policy-makers, to focus on rare diseases, and supports the idea of further conferences and focus groups being held.
NZORD expresses it grateful thanks to all who gave so generously of their time and energy to make this conference such a success. We especially note the support of the Ministry of Health and of our