Case Study: Australia
As of 2005, there were over 220 genetic tests available in Australia and 45 laboratories provide genetic testing services (1). In Australia, genetic testing laboratories are usually attached to or affiliated with public hospitals or universities. In addition, some government departments have laboratories that conduct genetic testing, for example forensic laboratories. Private genetic testing laboratories operate as profit-making entities, either independently or in association with private hospitals or universities. Private laboratories may also provide their services to government on an ad-hoc basis or under contract. Some tests are also carried out in research laboratories (2).
The Australian health case system is largely regulated at the State and Territory level, however the Commonwealth Government also provides funding and has enacted some regulatory measures. Many services are publicly subsidized, however the private sector provides medical services in addition to the public health system.
- Regulation of laboratories
The Australian federal government regulates the provision of pathology services indirectly through the Department of Health and Ageing (DHA) administration of the funding schemes for public health (Medicare)(3). Under the provisions of the Health Insurance Act 1973 (Cth) (HI Act), only accredited laboratories are eligible for Medicare benefits from only those tests or services listed on the Medicare Benefits Schedule (MBS). Only Victoria has enacted state-specific legislation in this area. The States and Territories also influence pathology practice through funding of services.
Accreditation of testing services is administered by the National Association of Testing Authorities, Australia (NATA) (4). Currently, NATA is the only national accreditation body endorsed by the Commonwealth government to assess laboratory competency(5). NATA’s medical testing accreditation scheme is based on the relevant guidelines issued by the National Pathology Accreditation Advisory Council (NPAAC). NPAAC is run in part by the Royal College of Pathologists of Australasia (RCPA). NATA accreditation standards are developed with reference to international standards for laboratory competency in consultation with the RCPA.
To receive Medicare benefits, a laboratory must first be NATA accredited (6). Laboratories then apply to the Health Insurance Commission (HIC) (acting on behalf of the Minister for Ageing) to become Approved Pathology Laboratory (APL) in accordance with the HI Act and the Health Insurance (Accredited Pathology Laboratories-Approval) Principles (1999)(7). In the case of a breach of the principles outlined by NPAAC, NATA, and the HIC, Medicare benefits and accreditation may be removed. The State of Victoria has an independent structure for accreditation of all pathology laboratories in the state, regardless of whether they seek medicare payments (8), in accordance with NPAAC standards and the NATA/RCPA scheme (9).
- Regulation of tests
New genetic tests are constantly being developed as a result of ongoing research both internationally and within Australia. When new genetic tests become available in Australia, they must be individually assessed before Medicare benefits will be available for providing them; in compliance with the NPAAC guidelines; against which the providing laboratories are assessed each time they apply for or renew accreditation with NATA (10).
For specific tests to attract public funding an application must be made to the Medical Services Advisory Council (MSAC), which advises the Federal Government on the safety, effectiveness and cost-effectiveness of new medical technologies and procedures (11). MSAC makes recommendations to the Federal Minister for Health and Ageing, who then decides whether the test should receive public funding. If successful, the test will be listed on the MBS and Medicare benefits will be available (12).
- Assurance of patient safety
Genetic testing services generally comply with, but are not legally bound to, the National Health and Medical Research Council (NHMRC) Ethical Aspects of Human Genetic Testing(13)information paper and guidelines on genetic research (14). The Human Genetics Society of Australasia (HGSA) has also published or endorsed a number of general policies in relation to genetic testing services (15) including: The NHMRC guidelines for Ethical conduct in research involving humans(16) and the code of ethics for the Australasian Society of Genetic Counsellors (ASGC)(17). The HGSA provides guidelines for training and certification, as well as accreditation, in biochemical genetics, clinical genetics (in conjunction with the RACP), cytogenetics, genetic counselling and medical genetics (18). These guidelines make provisions for the maintenance of professional standards (MOPS) and continuing education schemes. Certification by the HGSA is not a legal prerequisite for practice [except for genetic counsellors in Victoria state health services (19)], however it is the preferred qualification for professionals working in genetics(20).
Federally, the Commonwealth Privacy Act (1988) (21) regulates information privacy in general. Most states have privacy legislation in place that apply to genetic testing. The NT, Tasmania, and WA are in the process of developing their own privacy legislation (22). Most states also have legislation in place to address the issue of consent in testing (23). In general, the state/territory public health system provides genetic counselling. The specific guidelines and legislation applicable in each State or Territory are well described in the National Public Health Partnership's (NPHP) An overview of public health surveillance of genetic disorders and mapping of current genetic screening services in Australia, Appendix 2: Summary of Legislation Survey (24).
Three major bodies, the DHA, the ALRC, and the NPHP have all published reviews of the quality and safety of pathology, and in specific, genetic testing.
|ALRC||2001||Essentially yours: the protection of human genetic information in Australia (25)|
|DHA||2001||Evaluation of the Australian Pathology Laboratory Accreditation Arrangements (26)|
|DHA||2002||Report of the review of Commonwealth legislation for pathology arrangements under Medicare (27)|
|NPHP||2002||An Overview of Public Health Surveillance of Genetic Disorders and Mapping of Current Genetic Screening Services in Australia (28)|
|DHA||ONGOING||Review of Enforcement and Offence Provisions of the Health Insurance Act 1973 as they Relate to the Provision of Pathology Services Under Medicare Summary(29)|
In general, “the current Australian pathology accreditation arrangements are fundamentally sound and should be maintained”(30). However, the reviews identified a number of common challenges to the provision of quality and safety in genetic testing:
- DECENTRALIZATION--Existing legislation is inadequate in relation to genetic testing, and lack clarity in its application. Legislation and policy relating to genetic testing is inconsistent between States due to the lack of overarching national guidelines for genetic testing. Funding of genetic services is split between the Commonwealth and States and Territories.
- REGULATION--Because laboratories are regulated through administration of the MBS, a small number of laboratories that do not seek Medicare benefits are unregulated (31,32). This includes most research laboratories, some of which may be providing testing for clinical use, and private laboratories, which are growing in number. The processes to address offences in publicly funded laboratories result in only minor action being taken. There is a lack of legislative measures to ensure compliance with NPAAC, HGSA, and NATA guidelines.
- ACCESS-- There is a lack of training of medical professionals with regard to the use of, and access to, genetic services. Restrictions on eligibility to request pathology tests has reduced access to services in areas where there is a shortage of medical practitioners, resulting in some genetic tests are requested and processed in ways that breach the Health Insurance Act. Not all regions have access to a full complement of genetic services, dependent on the resources available.
- APPROPRIATENESS--There is a lack of uniform protocols for referral to a genetic service, forcing the laboratory to act as the gatekeeper to determine appropriateness of testing. Current laboratory accreditation standards fail to address issues such as informed consent, privacy, access to counselling and chain of custody of samples. Genetic tests may be provided direct to the public without and allowances made for patient safety. There is a lack of adequate genetic testing and genetic counselling guidelines; and there are no specific provisions in any state to prohibit any person, regardless of qualifications, claiming to be a genetic counsellor, or providing genetic counselling. There are also no formal sanctions in place for breach of ethical or professional standards in genetic counselling.
The review made a number of recommendations to facilitate a framework for the provision of genetic services in Australia:
- NATIONALIZATION--A national oversight body for issues around genetic testing and genetic information, known as the Human Genetics Commission of Australia (HGCA) should be established to develop codes of practice and advice relating to the provision of genetic services including: genetic testing and counselling practice guidelines in consultation with HGSA, and regulation of tests provided direct to the public (33).
- REGULATION--National bodies such as NPAAC should be strengthened to ensure compliance. NPAAC should further develop ethical standards for medical genetic testing, in consultation with the NHMRC and the proposed HGCA. The Commonwealth Government should amend existing legislation to make it applicable and sufficient for the regulation of genetic services. State legislation should be enacted to compliment the national system, including regulation of laboratories outside of the Medicare scheme.
- ACCESS-- A joint funding agreement should be made between the States and the Commonwealth. National reference laboratories (laboratories that specialize in a specific disorder or group of disorders) to provide testing for rare disorders should continue to be developed.
- The Commonwealth Government has announced moves to improve the standards of pathology laboratory testing and to identify laboratories that do not meet required standards (34).
- The DHA also confirmed in 2003 that the establishment and implementation of an improved quality assurance and accreditation scheme was under consideration (35). The DHA is working with the States and Territories (through the Australian Health Ministers’ Advisory Council (AHMAC)) towards specific regulation for genetic services. AHMAC’s Advisory Group on Human Gene Patents and Genetic Testing is currently considering the ALRC’s recommendation for the development of practice guidelines for genetic testing and counselling, and the HGSA has agreed to consult on this matter.
- The AHMAC National Health Privacy Working Group has drafted a National Health Privacy Code to harmonize health privacy protection, specifically including genetic information in its definition of health information (36).
- The Department of Health and Ageing is implementing a trial system for point of care testing (PoCT) commencing in August 2005, to be completed in 2007(37). PoCT is when testing is performed outside of a laboratory setting, and is a potential solution to reduced access in low-resource areas if its clinical and cost effectiveness can be proven.
Australia's regulatory framework for ensuring the quality and safety of genetic testing is currently adequate. However there is room for improvement, particularity in strengthening what are now considered guidelines so that they are actually binding. There is room for more general, overarching, national strategies to ensure consistency of the standard of testing and patient care across the States and Territories. Genetic testing is no longer a novel technology, and it is important that national and international policy specifically address the quality and safety issues it raises. With increasing cross-border and out-sourcing of testing, collaboration in the development of international standards will be of critical importance in maintaining a high quality of testing and patient safety.