Genomic resource centre

Case Study: New Zealand

Situation

New Zealand has taken a de-centralized approach to the provision of health care services. The Ministry of Health Manatū Hauora (MOH) is the New Zealand governmental agency that issues guidelines and policy for medical services throughout New Zealand (1). The MOH distributes funding to District Health Boards (DHBs)(2) which are in turn responsible for funding and delivering health and disability services in their district. DHB laboratories are usually based within public hospitals and perform the majority of genetic tests. Seven laboratories in New Zealand offer diagnostic testing for about 75 genetic disorders (3). The current range of genetic tests available in New Zealand depends on clinical demand, the areas of individual interest of the laboratory, and available funds from each DHB. The 2 main laboratories are the Diagnostic Genetics Department at Auckland City Hospital, and Canterbury Health Laboratories, Christchurch. The term genetic services refers to a unit that provides a comprehensive range of clinical genetic services, including genetic counselling and referral for patient support. There are only two regional contracts for the provision of clinical genetic services in New Zealand: the Northern Regional Genetic Service based in Auckland; and the Central and Southern Regional Genetic Service, with offices in both Wellington and Christchurch. These services organize outreach clinics throughout New Zealand to provide access to services in areas outside of the major city centres of Auckland, Wellington, and Christchurch (4).

  • Regulation of laboratories
    International Accreditation New Zealand (IANZ) provides accreditation for a range of laboratories and technical services in New Zealand, including pathology laboratories (5) in compliance with the International Organization for Standardization (ISO) ISO 15189:2003 Medical Laboratories – Particular Requirements for Quality and Competence (6). IANZ also requires laboratories that offer genetic testing to comply with the NPAAC guidelines. IANZ has entered into a mutual recognition arrangement with NATA (the Australian accreditation body) recognizing equivalency of their standards of accreditation (7). The IANZ reports annually to the MOH. If the ministry is informed of a breach of the IANZ guidelines, action is taken through the funding agreements with the DHBs, rather than by taking action against the individual laboratory. The DHB is responsible for ensuring the quality of the laboratories to which it provide funding (8).

  • Regulation of tests
    The majority of tests are requested by general practitioners, and tend to be for common conditions. Currently, any medical professional can order any laboratory test, regardless of whether it is included on the service schedule. Tests for rare conditions are generally referred overseas. There is no standardized process of validation of tests, and so the development of genetic testing has been based on demand (9).

  • Assurance of patient safety
    According to the New Zealand Public Health and Disability Act 2000 (10) and the Code of Health and Disability Consumers Rights (1996) (11), New Zealand health care consumers have a legal right to appropriate information in order to give informed consent (12). The IANZ guidelines do not distinguish between written, oral, and implied consent for testing, and make no specific provisions for tests arriving without notification of consent (13). Rules governing patients' rights to privacy can be found in the Privacy Act (1993) (14).
    Internal policies have been set by the Auckland Diagnostic Genetics Department to process certain requests (mainly those for pre-symptomatic predictive tests) only when they are received from genetic services. It is recommended that some other tests go through genetic services but this is not a strict requirement. Requests for disorders are reviewed as they come into the laboratory for appropriateness of testing (15); thus control of testing is at the laboratory level.
    MOH funds the New Zealand Guidelines Group (NZGG) to provide evidence-based guidelines and technical advice to a number of MOH advisory groups. The NZGG has developed some specific guidelines that include considerations of genetics: Surveillance and Management of Groups at Increased Risk of Colorectal Cancer (16), and the Systematic Review of the Quantifiable Harms and Benefits of Preimplantation Genetic Diagnosis (17). The NZGG guidelines for Preimplantation Genetic Diagnosis (PGD) were used as a basis for the National Ethics Committee on Assisted Human Reproduction guidelines for the use of PGD, which were published in September 2004 (18). They require appropriate genetic counselling and outline the process of informed consent, although no specific mention is made of procedures to protect confidentiality and privacy. Specific criteria are also in place for population screening programs (19).


Challenges

The National Health Committee (NHC) has commissioned three major reports looking at the provision of genetic services in New Zealand:


2002 Some practical aspects of genetic testing in New Zealand. A report for the National Health Committee. (20).
2003 Genetic Testing - Survey of New Zealand General Practitioners’ knowledge and current practice (21).
2003 Molecular Genetic Testing in New Zealand (22).

These reports identified a number of challenges to the developing framweork for the provision of genetic services:

  • ACCESS--There are issues of access due to under-resourcing (both human and financial). Demand exceeds supply for genetic services; it is predicted that there will be more private and direct to public marketing of genetic tests (23) for which there are no regulations in place. Due to a shortage of trained professionals to work in genetic services, genetic testing is mostly carried out outside of genetic services. Genetic services are seen as inaccessible to both General Practitioners (GPs) and patients. The available genetic services are not being accessed when appropriate, and the onus of investigating appropriateness of testing is on laboratory staff.
  • EDUCATION--The majority of genetic testing is ordered by GPs who are not specialists in genetics leading to inappropriate ordering of genetic tests and the inability to ensure genetic counseling. There is a lack of accessible information, resources, and guidelines for genetic testing available to these GPs. GPs lack contact with, or knowledge of how to contact, local genetic services. There is a need to educate GPs and other medical professionals about genetics and genetic testing in general, as well as the services available to them.
  • REGULATION-- The existing quality assurance scheme under IANZ is inadequate for genetic testing. Quality criteria for publicly funded molecular genetics laboratories need to be updated in order to keep up with technological development. While all laboratories receiving public funding are required to be IANZ accredited, independent research laboratories are not. There is no coordinated mechanism to develop and evaluate new tests, or to assess them for clinical use. This is not just a problem for genetic tests, but for all medical tests in New Zealand. Laboratories are also not required to participate in external quality assurance activities for tests that do not have a formal programme in place.
  • UNIQUENESS-- Models and analyses of genetic testing have mostly been published in other countries; New Zealand needs to formally examine social and ethical issues of genetics and genetic testing within the New Zealand context. New Zealand also has a unique challenge to face in the presence of the strong, politically active and diverse indigenous Maori population and their specific cultural attitudes towards genetic information and biological material.
  • REGIONALIZATION-- There is no one agency in New Zealand to oversee health related genetic technology and genetic service delivery, and so there is inconsistency in the quality, and cultural and social sensitivity of testing services across the country. A national approach has yet to be adopted to address capacity building issues with the current regional structure of service delivery.

Solutions

  • ACCESS-- The genetic workforce should be increased, and provisions should be made for adequate resourcing and capacity building.
  • EDUCATION-- Protocols should be developed for each genetic test (including obtaining consent; criteria for when testing is appropriate, and by which practitioners it should be performed; and specific cultural and social sensitivity issues surrounding that test) to be an accessible resource for any medical professional. GPs, specialists, and medical students should have access to an appropriate level of genetic education in curricula and continuing education. Programs should also be developed to provide information on genetics and testing to the public.
  • REGULATION-- NHC's New Health Intervention Assessment Guidelines, along with international developments, should be assessed for applicability to genetic testing in particular. These, or other specific assessment guidelines should be developed to evaluate the quality of genetic testing services in New Zealand. Criteria to assess the clinical utility and validity of genetic tests may also be applied to other clinical tests, improving the quality assurance network for medical testing in general.
  • UNIQUENESS-- Not only should genetic services be sensitive to Maori customary practices and beliefs, but also Maori representatives should also be involved in the development of genetic services, and Maori should be particularly included as providers of these services.
  • NATIONALIZATION-- Use of the Scottish model of specialization in testing would allow the DHBs to share the burden of genetic testing, avoiding duplication of services and developing a high level of expertise and quality assurance in those specialities.This model is ideal for countries with small populations like New Zealand. This would require the genetic testing framework to be funded and coordinated nationally, although still delivered regionally.

Actions Taken

  • The District Health Boards New Zealand (DBHNZ) (the representative body of all 21 DHBs) is currently working on a project on laboratory services that is primarily focussed on laboratory operation, but will hopefully take a strategic perspective for assessment of genetic testing standards.
  • The NHC is also working on a framework to assess new technologies, which would include the identification, assessment, implementation, and evaluation of new genetic tests.
  • International Biotechnology Advisory Council of New Zealand (IBAC) developed a booklet to explain genetic testing (24) and inform the public about genetic technologies and their therapeutic applications. The IBAC has since been disestablished (2002) (25) and the New Zealand government Bioethics Council is now responsible for this area of work; although they have not yet developed any publications specifically in relation to genetic testing (26) .
  • A number of requests for continuing medical education sessions were submitted to genetic services as a direct result of the survey of GPs.

Conclusion

With the increasing demand for genetic services, it is necessary for a small nation like New Zealand to increase the number of clinical geneticists and counselors, particularly those that are trained to deliver culturally appropriate services. In light of the rapid advances being made in the field of genetics and genetic testing, GPs and other medical professionals require adequate training and education to be able to provide quality service to patients. In this way some of the burden on the under-resourced genetics services can be relieved at the same time ensuring access to genetic services where it is necessary. Other medical professionals can be used as a genetic resource in complement to (rather than as a replacement for) genetic services. Crucial to the provision of appropriate genetic services is the need to fund and coordinate services nationally for all DHBs and regions to improve access to safe and effective genetic testing.The development of overarching national guidelines would make development of specific guidelines for certain types of testing much simpler, if not unnecessary. A national framework for genetic testing would address the inconsistencies in the current model and ensure that a high standard of care is met nation-wide.


References


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