Some Practical Aspects of Genetic Testing in New...

Some practical aspects of genetic testing in New Zealand

A report for the National Health Committee

March 2002

DIANA SARFATI PUBLIC HEALTH PHYSICAN

TABLE OF CONTENTS

SECTION 1: INTRODUCTION .............................................................................. 3

SECTION 2: THE VALIDATION OF GENETIC TESTS......................................... 3 2.1 Definitions ...........................................................................................................................................3 2.2 Validation of genetic tests internationally ..........................................................................................4

2.2.1 United States .................................................................................................................................5 2.2.2 United Kingdom............................................................................................................................6 2.2.3 Canada ..........................................................................................................................................7 2.2.4 Australia........................................................................................................................................7

2.3 Situation in New Zealand....................................................................................................................8 2.3.1 Role of the Service Schedule..........................................................................................................8 2.3.2 Cytogenetic and molecular genetic testing laboratories...................................................................8 2.3.3 The role of other organisations.......................................................................................................9

SECTION 3: QUALITY/ ACCREDITATION ISSUES ASSOCIATED WITH GENETIC TESTING............................................................................................. 10 3.1 Background....................................................................................................................................... 10 3.2 International experience with quality and accreditation issues ....................................................... 10

3.2.1 United States ............................................................................................................................... 10 3.2.2 United Kingdom.......................................................................................................................... 11 3.2.3 Canada ........................................................................................................................................ 12 3.2.4 Australia...................................................................................................................................... 12

3.3 Laboratory quality and accreditation in New Zealand .................................................................... 12 SECTION 4: WHICH PRACTITIONERS SHOULD ORDER WHICH GENETIC

TESTS ................................................................................................................. 14 4.1 Background....................................................................................................................................... 14 4.2 Situation in New Zealand.................................................................................................................. 15 SECTION 5: ISSUES OF INFORMED CONSENT .............................................. 16 5.1 Informed choice and genetic testing ................................................................................................. 16 5.2 How is informed choice obtained in New Zealand?......................................................................... 17

APPENDIX: IANZ QUALITY AND SERVICE STANDARDS FOR MEDICAL TESTING LABORATORIES................................................................................ 20

Section 1: Introduction There is an enormous amount of interest in genetic testing internationally. Many organisations and institutions are grappling with the multitude of social, legal, ethical and policy challenges presented by the new technology. Genetic testing is complex. The results of genetic testing hold implications for both the individual and their family; they often apply to future disease and, particularly for susceptibility testing, are highly probabilistic in nature. Also, there are often no effective preventive or treatment options for the conditions identified by genetic testing. Added to these complexities is the magnitude and unpredictability of advances in the field of genetics. The rapid evolution of genetics is exciting, but there are also risks. This report was commissioned by the National Health Committee (NHC) to summarise international best practice and the current New Zealand situation in relation to four main areas relating to genetic testing. These are

• the validation of genetic tests; • quality and accreditation issues associated with genetic testing laboratories; • issues relating to which practitioners should order which genetic tests; and • issues of informed consent.

This report is not a comprehensive review of the literature on these issues, nor does it provide a full quantitative assessment of these issues in New Zealand. It does however, identify the key current models from other countries and gives an overview of the current situation in New Zealand according to key published and unpublished documents, and information from key informants. For the purposes of this report, at the request of the NHC, genetic testing refers only to the testing of DNA (molecular tests) or chromosomal material. It does not include prenatal or preimplantation testing. Genetic tests, in this context, include:

• diagnostic testing e.g. for cystic fibrosis; • presymptomatic or predictive testing e.g. for Huntington’s disease prior to the

development of symptoms; • susceptibility testing e.g. for BRCA gene in breast cancer; • carrier testing e.g. for haemophilia.

Section 2: The validation of genetic tests

2.1 Definitions The growth of molecular genetic testing in clinical laboratories has led to the international availability of genetic tests for many hundreds of genetic disorders. Demand for genetic testing is likely to continue to increase substantially over the next years and decades,

particularly with the growth in relation to pharmacogenetics and predisposition testing.1 As with all new medical technologies, new genetic tests need to be the subject of formal evaluation. The pathway between gene discovery and clinical use is complex and dependent on a number of factors including genetic factors (such as the number of mutations responsible for a condition, and the expressivity of genes); test specific factors (such as specificity, sensitivity, and predictive values) and contextual factors (such as the prevalence of the condition, the impact of environmental factors on the condition, and the availability of clinical intervention). A number of organisations around the world have been attempting to develop models to evaluate genetic tests against these sorts of factors. For the purpose of this report validation is being considered in this broad context. A number of terms are used in discussion of laboratory test validity and effectiveness. Particularly important are the terms analytical validity, clinical validity and clinical utility.2 Analytical validity gives a measure of how well the test measures the property or characteristic it is intended to measure. It includes measures of analytical sensitivity (the probability that a test is positive if the genetic mutation is present), and analytical specificity (the probability that a test is negative if the mutation is not present). It also includes the tests reliability (the extent to which the test gives the same result under the same circumstances). Clinical validity measures the extent to which the test predicts a clinical outcome. It is described in terms of clinical sensitivity and specificity; and in terms of a test’s predictive values. Positive and negative predictive values are the extent to which a test accurately predicts the presence or absence, respectively, of a clinical condition. Predictive values are heavily dependent on the prevalence of the condition in the population being tested. As a result a test may be clinically valid when applied to individuals from a high risk population, but not so when applied in the general population. Thus an assessment of who should be offered the test is part of the assessment of clinical validity. Clinical utility is the extent to which a positive or negative test result confers benefit or harm. This is affected by factors such as whether the test is intended to be diagnostic or predictive, the seriousness of the condition, whether there is effective treatment or prevention available for the condition, whether the result may lead to psychological, social or economic harm, and the implications of the test result on the family.2 3

2.2 Validation of genetic tests internationally The following is a summary of the key models identified from specified countries. Without exception, the models assume an evidence-based approach. It is, however, important to note that in the case of genetic testing high quality evidence is often lacking. Furthermore, the extent, unpredictability and rate of change in the field of genetics make validation of individual tests particularly challenging.

1 Expert Working Group to the NHS Executive and the Human Genetics Commission. 2000. Laboratory Service for Genetics. http://www.doh.gov.uk/genetics.htm. 2 Secretary’s Advisory Committee on Genetic Testing. 2000. A public consultation on oversight of genetic tests. http://www4.od.nih.gov/oba/sacgt/reports/Public_Consultation_document.htm 3 Secretary’s Advisory Committee on Genetic Testing. 2000. Enhancing the oversight of genetic tests. Recommendations of the SACGT. http://www4.od.nih.gov/oba/sacgt.htm

2.2.1 United States In 1995, the Nation Institutes of Health (NIH) and the Department of Energy Working Group on Ethical, Legal and Social Implications of Human Genome Project set up a Task Force on Genetic Testing.4 This group was charged with ensuring safe and effective genetic tests for the United States. In their report, this group identified a number of concerns relating to genetic testing. One of these was that genetic tests are sometimes introduced clinically before they have been demonstrated to be safe and effective. They recommended criteria which should be fulfilled before a test be accepted into routine clinical practice. These criteria were:

1. that the genotypes to be detected by a genetic test must be shown by scientifically valid methods to be associated with the occurrence of disease. The observations must be independently replicated and subject to peer review;

2. that analytical sensitivity and specificity of a genetic test must be determined; 3. that data to establish the clinical validity of genetic tests (clinical sensitivity,

specificity and predictive value) must be collected under investigative protocols. In clinical validation, the study sample must be drawn from a group of subjects representative of the population for whom the test is intended;

4. that data must be collected to demonstrate the benefits and risks that accrue to participants from both positive and negative results.

The Task Force recommended that independent Institutional Review Boards should assess the scientific merit of proposals to develop new genetic tests. It recommended that laboratories should not offer a test whose clinical validity had not been established, and that laboratories should conduct a pilot phase after introducing a new test during which all steps in the testing procedure were assessed. The Taskforce called on the NIH and Centres for Disease Control (CDC) to facilitate collaborative efforts in the collection of data on safety and effectiveness of new tests and recommended the formation of a broad-based group to build on the work of the Task Force on Genetic Testing. As a result of the Task Force’s recommendation, the Secretary’s Advisory Committee on Genetic Testing (SACGT) was chartered in 1998. In relation to the issue of validation of genetic tests, SACGT concluded that tests should be assessed in terms of four sets of criteria. These were analytical validity, clinical validity, clinical utility and social consequences. They described social consequences as being special risks that some tests may carry, for example, because of social implications of the health condition (e.g. mental illness); or because of the stigmatisation of a particular group as a result of targeted programmes. SACGT also recognised that some genetic tests would require a greater level of scrutiny before being introduced clinically than others. They recommended that tests be categorised according to complexity using a number of factors including whether the test was predictive or diagnostic, the degree of penetrance of the mutation and whether there were adequate interventions available for the condition. The level of scrutiny required for each complexity level could then be specified. However, despite considerable effort since then, attempts to categorise tests have been unsuccessful. SACGT also recommended a multi-agency approach to the evaluation of new genetic tests with the FDA taking the lead in reviewing and approving all new tests beyond the basic research stage, and CDC having a role in coordinating post market collection, aggregation and analysis of data. Since the recommendations of SACGT were released the FDA and 4 Task Force on Genetic Testing. 1997. Promoting safe and effective genetic testing in the United States. http://www.nhgri.nih.gov/ELSI/TFGT_final/

CDC have been working together to attempt to develop relatively user-friendly mechanisms to evaluate tests without inhibiting access to testing or technology.5 This work is ongoing.

2.2.2 United Kingdom In 1996, the Government established the Advisory Committee on Genetic Testing which produced a Code of Practice on genetic tests provided directly to the public,6 and a report on the introduction of genetic tests for late onset conditions.7 In these reports, the advisory committee discussed the importance of ascertaining the analytical and clinical validity of a test before introducing it into clinical practice. In 1999 the Expert Working Group to the NHS Executive and the Human Genetics Commission was set up to examine current provision of laboratory genetic services within the NHS and identify future developments.8 In their 2000 report, the Working Group concluded that there was no formal coordination between the laboratories and no explicit approach to the introduction of new tests. “New tests are developed using research monies. There is currently no co-ordinated mechanism to evaluate these tests, no criteria for assessing when they might be ready for service use, and no consistent means to gain access to new funds enabling the implementation of a new test as a routine national service.” (p15) They recommended that a national body be appointed by the Department of Health to be responsible for amongst other things “a co-ordinated mechanism for the assessment and evaluation of new genetic tests according to agreed criteria for analytical and clinical validity and for clinical utility.” (p16) They recommended a process be developed which included a mechanism for scanning for new technologies, a strategy to identify those that are suitable for assessment, and a capability to rapidly respond to those new technologies most likely to be beneficial. The assessment itself would include an evaluation of analytical validity, clinical validity, clinical utility and cost effectiveness. The Expert Working Group also highlighted the paucity of quality economics data relating to genetic tests, although since then there has been some progress, with priorities identified for research in genetics and health economics.9 Recently, the Secretary of Health announced some developments in the United Kingdom including the establishment of six ‘knowledge parks’. These will bring together clinicians, scientists, academics and industrial researchers with the aim of facilitating the smooth transition of gene technology to useful clinical practice. Two new genetic reference

5 see http://www.phppo.cdc.gov/dls/genetics/default.asp 6 Advisory Committee on Genetic Testing. 1997. Code of Practice and Guidance on Human Genetic Testing Services Provided Direct to the Public. http://www.doh.gov.uk/pub/docs/doh/hgts.pdf 7 Advisory Committee on Genetic Testing. 1998. Report on genetic testing for late onset disorders. Http://www.doh.gov.uk/genetics/lodrep.htm 8 Expert Working Group to the NHS Executive and the Human Genetics Commission. 2000. Laboratory Service for Genetics. http://www.doh.gov.uk/genetics.htm. 9 Genetics and health economics: report of a workshop. 2001. http://www.medinfo.cam.ac.uk/phgu/.

laboratories are also to be opened specialising in the assessment and development of new tests.10

2.2.3 Canada The most recent report from Canada is a comprehensive review by the Ontario Advisory Committee on New Predictive Genetic Technologies.11 This group has similarly identified the need to strengthen the capacity to assess, evaluate and monitor new genetic technology. They have also recommended the creation of a broad based group, in this case the Human Genetics Commission, to take this role. The advisory committee have suggested that the Commission adopt a health technology assessment approach, with multidisciplinary input covering safety, efficacy, effectiveness, quality of life, economic, ethical and social implications of tests. In order to make this type of evaluation more manageable, one Canadian source has suggested a two stage implementation process for genetic tests. The initial stage would focus on analytical validity with some data also collected on clinical validity and utility. If the results suggested the test would be useful, it would move into a second stage of restricted clinical use during which further data on broader issues of utility at an individual and social level would be collected and independently assessed before the test would move into unrestricted clinical use.12

2.2.4 Australia Currently genetic services including laboratories are largely funded by State Government in Australia. There is no formal evaluation process for new tests introduced into Australia other than those implemented by the laboratories themselves.13 However work has been carried out to review various aspects relating to genetic services in Australia by, for example, the Human Genetic Society of Australasia (HGSA)14, the National Health and Medical Research Council15, and the Victorian Genetic Services. Little has been specifically written on the validation of new tests in Australia, but this latter group, which produced a report in 1996, recommended greater central coordination of genetic services in Australia including the review and monitoring of genetic tests.16 This issue was raised at a conference of Australian health ministers and as a result the Medicare Services Advisory Committee (MSAC) is currently undertaking a review of genetic services. This review is primarily focussed on issues relating to the funding of genetic services, and ethical issues.17 10 Press release. 16 January 2002. Department of Health. ‘Britain must be at the leading edge of genetics – Milburn new national network of genetics centres announced’ http://tap.ccta.gov.uk/doh/intpress.nsf/page/2002-0025?OpenDocument. 11 Ontario Advisory Committee on New Predictive Genetic Technology. 2002. Ontario Draft Report to Premiers: Genetics, Testing and Gene Patenting: Charting New Territory in Healthcare. Draft Report. 12 Blancquaert I, De Langavant GC, Bouchard L et al. 2001 Oversight mechanisms for technology transfer in molecular genetics. Meeting the Challenge. ISUMA Canadian Journal of Policy Research 2: 103-9. Quoted in Ontario Advisory Committee on New Predictive Genetic Technology. 2002. Ontario Draft Report to Premiers: Genetics, Testing and Gene Patenting: Charting New Territory in Healthcare. Draft Report 13 Personal communication, Desiree Dusart, HGSA Australia. 14 See http://www.hgsa.com.au 15 see http://www.health.gov.au/nhmrc/issues/humangenetics.htm 16 Working Group on Genetic Service Development. Genetic Services in Victoria. A discussion paper. (undated). http://www.dhs.vic.gov.au/phd/hdev/genetics/ 17 Personal communication, Bob Williamson, Murdoch Institute, Australia.

2.3 Situation in New Zealand Laboratory testing in New Zealand is generally done either by District Health Board (DHB) or community laboratories. DHB laboratories are usually based within hospitals and tend to carry out more complex tests including the majority of genetic tests. They are funded to carry out tests for hospital patients through the Diagnosis Related Group (DRG) system, and also have capped funding available for carrying out non-schedule tests (see below) requested from non-hospital sources. 18

2.3.1 Role of the Service Schedule The Schedule Test Purchase List (the Schedule) is a list of tests for which a benefit is claimable by the laboratory.19 Before 1998, schedule tests were those that were carried out by community laboratories and for which a fee for service was paid. The schedule, therefore, defined which provider carried out a test, not which test a referrer could order.20 Decisions on which tests were included on the schedule were made in negotiations between community laboratories (or the Community Laboratory Association) and the funder. As a result, there were variations in the tests included on the schedule across Regional Health Authority areas.21 In 1998, the Health Funding Authority launched the Laboratory Services Project with the aim of developing a strategy to manage demand driven expenditure in delivery of referred laboratory services, to achieve national consistency and to increase efficiency.20 Competition was introduced between community and hospital laboratories, so both were able to carry out and charge for tests on the schedule, and a nationally consistent schedule was introduced. The HFA convened an expert group, the Laboratory Services Advisory Committee (LSAC) which was to provide independent, expert advice regarding which tests should be included on this schedule. This group first met in July 2000, and recommended 18 additions to the schedule. The Ministry of Health did not accept any of these recommendations.18 The legality of the Ministry decisions is currently being challenged in court by the Association of Community Laboratories. As a result LSAC is currently not functioning, although has not been officially disbanded.22 Of note is that the LSAC had no role in determining which tests were available in hospital laboratories which is where most cytogenetic and molecular genetic testing is carried out in New Zealand.

2.3.2 Cytogenetic and molecular genetic testing laboratories There is no formal process for validation of genetic tests in New Zealand. The main reasons reported for the current selection of available tests are clinical demand, areas of individual interest (within laboratories), and level of funding.23 New tests may be introduced for similar reasons, for example since 1997 there has been a growth in

18 Personal communication, Philip Pigou, South Island Shared Services Agency Ltd (SISSA) 19 Agreement for the funding and provision of laboratory services between [specified] DHB and [specified] laboratory. Laboratory Contract version 17. Viewed March, 2002. 20 Anonymous. 2001. Laboratory Services Strategy. Report to the Services Development Board. 21 Briefing paper of HFA Laboratory Strategy. 4 February 2000. 22 Personal communication, John Gommans, Chair LSAC. 23 Personal communications, genetic testing laboratories in New Zealand

susceptibility testing in New Zealand hospital laboratories.24 The tests that are currently provided tend to be well validated tests for relatively common conditions Tests for less common conditions are frequently referred to overseas laboratories.

2.3.3 The role of other organisations The Ministry of Health produced a draft discussion document in 2001 entitled The Implications of Genetic Development for the New Zealand Health System.24 This is a useful summary of issues, but did not directly address the issue of the introduction of new genetic tests in to New Zealand. The Ministry has a role in maintaining the National Service framework which includes some quality and audit requirements for laboratories, as well as defining the mechanisms through which labs are funded.25 Under the New Zealand Public Health and Disability Act, the Ministry also has a specific role in monitoring the performance of DHBs. However, the Ministry does not currently have a specific role in identifying, introducing or validating new genetic tests in New Zealand. Funding for genetic tests has been devolved to District Health Boards which means that DHBs currently are responsible for ensuring the quality of genetic services in their regions, and largely carry the financial risk for genetic testing in New Zealand. This devolution is somewhat in contrast to the international trend of increasing centralisation in the planning and coordination of genetic services. DHBNZ, a representative body of all 21 DHBs, is currently working on a number of projects including one on laboratory services. Currently their focus is largely operational, but they are hoping to develop a more strategic perspective which may provide a mechanism for further assessment of some of the issues identified here in the future.26 The National Health Committee is currently working on a framework for the assessment of new technologies which is based on:

• the early identification of emerging technologies; • assessment of safety, effectiveness and cost effectiveness; • consideration of social and ethical acceptability including need, equity and

opportunity cost; • the transfer of technology to clinical practice in a controlled manner; • evaluation following introduction.

This framework has close parallels to the models currently being developed overseas for the assessment of new genetic tests. Currently PHARMAC has no role in relation to laboratory testing in New Zealand, however the suggestion has been made in a briefing paper that PHARMAC may be in a position to take on responsibility for managing primary referred laboratory services. PHARMAC has some useful experience and expertise, however, a number of risks were also recognised including the possibility that such a role might dilute PHARMAC’s current effectiveness, and that such a role may increase the litigation risk.27

24 Ministry of Health. 2001. The implications of genetic developments for the New Zealand health system. Wellington, Ministry of Health. Draft document. 25 See Agreement for the funding and provision of laboratory services between [specified] DHB and [specified] laboratory. Laboratory contract version 17. 26 Personal communication, Philip Pigou, South Island Shared Services Agency (SISSA). 27 Pigou P. Laboratory Services Strategy. Briefing paper to the Minister of Health 6 June 2000.

The Independent Biotechnology Advisory Council (IBAC) was established in 1999 to advise the Government on issues relating to biotechnology. IBAC currently reports to the Minister of Research Science and Development, although it is soon to be disestablished and its activities taken over by the Bioethics Council. IBAC recently developed a draft booklet on genetic testing which explains the technologies and their therapeutic opportunities.28 This resource will be useful in informing the public about the issues relating to genetic testing, and will facilitate the involvement of lay people in decisions relating to genetic tests. In their booklet, IBAC conclude that “we can learn from their experiences, but decisions made in other countries will not necessarily suit our needs. New Zealanders need to make their own choices.” Section 3: Quality/ accreditation issues associated with genetic testing

3.1 Background Quality laboratories have been defined by IANZ as those which routinely provide reliable results, at a level of accuracy consistent with the needs of the users, at an economic price and within acceptable timeframes.29 Quality assurance can include laboratory accreditation,30 external quality assessment (EQA)31, internal quality control, and use of standard operating practices (SOPs).32 Genetic testing is complex, and may result in difficult life decisions which can have a major impact on the life of an individual and their family. For these reasons, clarification of specific standards of service in laboratories offering genetic tests is a recurring theme in work carried out all over the world.

3.2 International experience with quality and accreditation issues

3.2.1 United States Currently laboratories in the United States carrying out cytogenetic, molecular genetic or biochemical tests for genetic diseases are accredited under federal Clinical Laboratory Improvement Amendments (CLIA). The regulations under CLIA are based around a complexity model in which molecular genetic analysis is considered high complexity. The regulations require a biennial inspection, some proficiency testing, specified qualifications of personnel and specific requirements depending on the specialities in which laboratories are involved. It is possible for individual states to opt out of CLIA as long as their own regulatory processes are more stringent than those of CLIA.2 28 IBAC. 2001. Genetic testing. An introduction to the technology that is changing our lives. Some issues to consider. Draft booklet. 29 see http://www.ianz.govt.nz/ 30 Accreditation is the process by which an organization gains recognition that its activities and products meet a set of externally defined standards. 31 EQA or proficiency testing provides an independent check on a laboratory’s performance measured against an external ‘gold standard’. Most EQA systems rely on a disease specific approach, assessing both the laboratory’s ability to generate accurate results, and ability to interpret genotype within a specific clinical context. 32 OECD. 2000. Genetic Testing. Policy Issues for a new Millennium. http://www. Oecd.org//dsti/sti/s_t/biotech/act/gentest.pdf

The FDA has a role in assessing the quality of tests which are provided to multiple laboratories. Their reviews involve primarily an analysis of analytical and some clinical validity. The FDA has the authority to regulate in-house laboratory tests as well, but at the time of the SACGT review, had elected not to exercise that authority except inasmuch as the sale of specific reagents was restricted to certain laboratories.2 Both the Task Force on Genetic Testing and SACGT concluded that the oversight of genetic testing was insufficient for ensuring quality. The major concerns were the fact that genetic testing was not a speciality under CLIA, and that there were insufficient safeguards for new tests developed in laboratories. Both groups recommended that CLIA should be strengthened to include specific requirements for genetic testing. The CDC, and the Health Care Financing Administration (HCFA) have since been developing these requirements. This process is ongoing, but some of the likely inclusions in the new regulations will be a definition of what constitutes a genetic test under CLIA, specification of the persons authorised to order a genetic test, the requirement to ensure informed consent and availability of genetic counselling, specification of confidentiality requirements and issues relating to specific phases of genetic testing.33 CDC also has an ongoing work programme dedicated to improving and standardising quality within genetic testing laboratories.34 As part of this, they coordinate a number of activities including relevant research, QA courses and consensus-building conferences.35 A number of other professional groups have also developed guidelines to safeguard the quality of genetic testing in the United States. These include the College of American Pathologists (CAP)36 which has a quality assurance programme on molecular and cytogenetic tests; the Association for Molecular Pathology37 which runs an exchange of PCR tests, and the American College of Medical Genetics38 which has defined some quality assurance standards for laboratories.

3.2.2 United Kingdom In their 2000 report, the expert working group to the NHS executive and the Human Genetics Commission recommended that genetic testing services should be underpinned by a laboratory service of high quality and cost effectiveness. The report listed three principles that should inform quality assurance:

1. All laboratories offering genetic testing of any type should be subject to external accreditation, which include satisfactory performance in national external quality assessment schemes that are peer reviewed.

2. There should be a minimum complement of scientific and technical staff available in laboratories.

3. Laboratories should have sufficient throughput to prevent excessive ‘batching’ of tests. There should be explicit agreement on acceptable waiting times.

33 Summary report. Meeting of CLIAC February 2001. http://www.phppo.cdc.gov/dls/genetics/policy.asp 34 see http://www.phppo.cdc.gov/dls/genetics/default.asp 35 see www.phppo.cdc.gov/mlp/EQA.asp 36 see http://www.cap.org/ 37 see http://www.ampweb.org/ 38 see http://www.acmg.net/

The expert working group also supported the specialisation of labs to allow increased familiarisation with specific reagents, and detailed knowledge of genes tested for rare disorders or complex tests. Clinical laboratories in the UK can be accredited by Clinical Pathology Accreditation (CPA) which was established in 1992, and provides an accreditation service which is recognised by the International Laboratory Accreditation Cooperation (ILAC).39 CPA also provides laboratories with a list of current accredited EQA schemes. A number of these have been developed in association with the Clinical Molecular Genetics Society which held a series of consensus-building workshops relating to molecular genetics. The reports from these workshops formed the basis of guidelines which act as a resource for laboratories and EQA assessors. Most of these guidelines are disease specific, and the EQA system is largely voluntary.40

3.2.3 Canada Accreditation of Canadian laboratories is not currently mandatory. The report by the Ontario Advisory Committee on New Predictive Genetic Technologies11 identified the need “to work together to ensure appropriate and comparable quality standards are in place across all jurisdictions providing genetic testing including;…monitoring processes for lab quality…” (p.iv) However, the report does not provide specific ideas about how this may occur.

3.2.4 Australia Medical laboratories in Australia can be accredited by the National Association of Testing Authorities (NATA). Although accreditation with NATA is not mandatory, central and state Government agencies must use accredited laboratories to meet their own testing needs whenever possible.41 There is no fully coordinated EQA programme in Australia for genetic laboratories, though most laboratories participate in such programmes if they are available. Currently HGSA runs a number of EQA programmes specifically for cytogenetics, newborn screening and biochemical genetics. HGSA is also currently developing an EQA programme for molecular genetics in conjunction with the Royal College of Pathologists of Australasia (RCPA) which is expected to be functioning later this year.42

3.3 Laboratory quality and accreditation in New Zealand The main laboratory accreditation body in New Zealand is IANZ (International Accreditation New Zealand). IANZ is a crown owned organisation which provides accreditation services to a diverse range of laboratories and technical services. The accreditation process for medical laboratories includes:

• an assessment of the laboratory’s quality management system; • an assessment of the qualifications and continuing competence of the

professionals working in the laboratory;

39 For more information see Clinical Pathology Accreditation website on http://www.cpa-uk.co.uk 40 Clinical Molecular Genetics Society website. http://www.cmgs.org 41 see http://www.nata.asn.au 42 Personal communication, Desiree Dusart, HGSA Australia

• a detailed assessment of the laboratory’s competence for specific tests against specified methods;

• a requirement to participate in internal and external quality assurance programmes relevant to the specific tests carried out within the laboratory. An assessment of the number of tests carried out, and whether that number is adequate to maintain competence.

(For more detail see Appendix: IANZ quality and service standards for medical testing laboratories). All IANZ programmes have technical advisory committees which, in the case of medical laboratories, includes representatives from RCPA. Full assessments of laboratories are carried out every 3-4 years, and reviews are carried out annually. For specialised laboratories, external experts are employed for the assessment process. For example, in a recent evaluation of a molecular genetics laboratory in Auckland, a representative from HGSA was employed from Australia.43 If a laboratory receives public funding for any test, then it must be accredited by IANZ for that test. There are two main professional organisations involved with QA for genetic tests in New Zealand. These are the RCPA and HGSA. The RCPA carries out proficiency testing for some common tests including factor V Leiden and haemachromatosis, and also a QA programme in cytogenetics. As described above (3.2.4 Australia) the HGSA runs QA programmes in cytogenetics, new born screening and biochemical genetics, and is currently developing a programme for molecular genetics in association with the RCPA. In 1995, there was a review of genetic services by Drs Dixon, Winship and Webster. In their report, they produced lists of criteria which should be filled by laboratories providing specialist genetic services. 44 These criteria included accreditation with TELARC (now IANZ), conformation with HGSA guidelines, liaison with internationally recognised reference labs for given tests, and participation in recognised QA programmes. They also suggested that there should be staff with specified qualifications, and a minimum number of samples analysed per year in each laboratory. Some of these are criteria now met through compulsory accreditation with IANZ. However some weaknesses in the current system remain. Several laboratories reported that there are no formal quality control programmes in Australasia for many of the genetic tests they carry out.45 Some laboratories have established exchange programmes with other countries, however these have been arranged in an opportunistic fashion and not all laboratories are involved. Some expressed concern that current systems may not pick up poor laboratory practice. Research laboratories are not required to be IANZ accredited. The primary role of a research laboratory is clearly different to that of a clinical laboratory, however research laboratories often do provide limited clinical testing. It is unclear what quality processes such laboratories have in place. Similar concerns have been expressed overseas, with the

43 Personal communication, Lou Richards, CEO IANZ 44 Dixon JW, Winship I, Webster DR. Priorities for genetic services in New Zealand. A report to the National Advisory Committee on Core Health and Disability Support Services. Wellington, July 1995. 45 Personal communication, genetic testing laboratories in New Zealand.

difficulty in balancing quality concerns with avoiding inhibiting important research advances. There are also issues relating to accountability. If IANZ suspects laboratory failure but cannot prove it there is currently no requirement to inform the Ministry. If the Ministry is informed the only current lever is though the funding agreements with DHBs. DHBs have primary responsibility for the quality of laboratories to which they provide funding. The Ministry of Health role is that of monitoring DHBs.

Section 4: Which practitioners should order which genetic tests

4.1 Background Currently genetics services are focused on prenatal diagnosis, carrier testing and presymptomatic testing of Mendelian disorders such as the muscular dystrophies. However, the identification of susceptibility genes for common disorders is likely to ensure an increasingly important genetic component in the practice of all health professionals.46 Consumers are ever more well-informed and are likely to demand access to such technology. The desire to know may exceed what publicly funded health systems can provide, and there is likely to be progressively more private and direct-to-public marketing of genetic testing. 11 8 For example, in Canada there is a service which offers customers a profile of their predisposition to diseases such as cancer, heart disease and Alzheimer’s for a set fee.11 There will also be downstream impacts on non-genetic clinical services as a direct result of genetic testing, for example, demand for colonoscopies and mammographies in response to cancer predisposition testing. While the central role of the clinical geneticist is not disputed, there is a shortage of geneticists worldwide, and consequently access to genetic services cannot be assumed.11 24

8 Non-genetic health professionals will, as a result, have a critical role in meeting the future demand for genetic testing. The Task Force on Genetic Testing concluded that “With adequate knowledge of test validity, disease and mutation frequencies in the ethnic groups to whom they provide care, primary care providers and other non-genetic specialists can and should be the ones to offer predictive genetic tests to at-risk individuals” (p. 16).8 While the Ontario group stated that while increasing the number of clinical geneticists and genetic counsellors was urgent, “…genetics is a growing field and one that very quickly will need to move from primarily a domain of labs and specialists into the day-to-day practice of primary care physicians, nurses and other health-care professionals” (p.69).11 Concern has been expressed, however, that lack of knowledge might be a barrier to the involvement of non-geneticists in the provision of genetic services.8 32 47 As a result, there is almost unanimous international support for an improvement in the education of both the public and health professionals on genetic issues, and on concepts of statistical

46 Mather Z. Postgenomic technologies: hunting the genes for common disorders. BMJ 2001; 322: 1031-4. 47 Emery J, Hayflick S. The challenge of integrating genetic medicine into primary care. BMJ 2001; 322: 1027-30.

risk.4 8 11 24 48 However, with such rapid advancements, more innovative solutions to the issues will be required such as easily accessible and well-maintained clinical guidelines, and web-based decision making tools. Close liaisons between genetic and non-genetic clinical services will also remain critical, to ensure that appropriate genetic testing is offered, that results are accurately interpreted and that appropriate pre- and post-counselling is Undertaken.8 24 44

4.2 Situation in New Zealand Ideally, a survey on how referrals are made to genetic clinical or laboratory services could explore how such decisions are made, and by whom. However, such a survey was beyond the scope of this report. Informal communication with laboratories offering genetic services, and with a range of clinicians allowed some generalisations to be made. These should, however, be treated as provisional until they are confirmed with a more systematic and quantitative approach. Any medical practitioner in New Zealand can order any laboratory test whether or not the test is included on the service schedule (see 2.3.1 Role of the Service Schedule). There are no easily accessible clinical guidelines available to New Zealand clinicians on what tests they should appropriately order, when to refer and what services they can access. Currently in New Zealand a significant proportion of genetic tests are ordered by non-geneticists. The relative proportions are highly test, practitioner and laboratory specific. The clinicians involved include both primary care practitioners and specialists, particularly paediatricians, oncologists, haematologists, obstetricians and neurologists. Some laboratories reported that the majority of their referrals came from general practitioners, but that that these referrals were for a few commonly requested tests such as Factor V Leiden and haemachromatosis. General practitioner access to these tests was considered highly appropriate by all the laboratories offering them. There were examples of inappropriate laboratory referrals, for example occasional referrals from general practitioners for ‘genetic susceptibility to cancer’; however these were very much in the minority. Perhaps obviously, specialist groups vary in the tests they request depending on their speciality. However, there are also variations within specialist groups. For example, while a general paediatrician might only infrequently order a genetic test, a paediatrician specialising in dysmorphology may appropriately do so often. The decision that an individual clinician makes on whether or not to order a genetic test or whether to refer a patient to a genetic service is likely to be multifactorial. These factors may include:

• professional factors such as individuals’ areas of interest and expertise; • personal factors such as attitude to risk, confidence and style of practice;

48 World Health Organization. 1997. Proposed international guidelines on ethical issues in medical genetics and genetic services. Report of a WHO meeting on ethical issues in medical genetics. http://www.who.int/ncd/hgn/hgnethic.htm

• patient factors such as patient expectations; • societal factors such as balancing patient and population benefits; • access factors such as availability of genetic services. A 1997 review suggested

that 50% of New Zealand children had little or no access to genetic services.49 In summary, much genetic testing is carried out outside of genetic services by both primary care practitioners and by medical specialists. To some extent it could be argued that this is not only appropriate, but necessary because of the limited genetic services available in New Zealand. There is concern, nevertheless, that lack of knowledge on the part of some non-genetic clinicians may impede the quality of services received by individuals outside specialist genetic services.

Section 5: Issues of informed consent

5.1 Informed choice and genetic testing Informed consent, or perhaps more appropriately, informed choice is an important concept. It recognises that autonomy and self-determination is, or should be, central to the health professional–client relationship. It highlights that a particular individual is in a unique position to understand key factors that are pivotal in the decision on whether a test could be potentially beneficial to that individual.50 Shared decision making allows the individual to weigh up the costs and benefits according to their own values and then to make a decision based on these.51 In New Zealand, the right to be fully informed and to make an informed choice is enshrined in the Code of Health and Disability Consumers’ Rights. Informed choice for genetic testing is more complex than most other health related information because of the simultaneous presence of a number of factors such as the direct effect on the whole family, the probabilistic nature of particularly susceptibility testing, the uncertainty of outcomes, the lack of therapeutic options and the risk of psychological and social harm.52 There has been a call for laboratories to be required to have evidence of pre-test counselling and informed consent prior to carrying out predictive and susceptibility testing.8 11 53 The Task Force on Informed Consent, part of the NIH-run Cancer Genetics Studies Consortium, developed some detailed guidelines on informed consent for cancer susceptibility testing.52 Their main recommendations were:

• informed consent should be seen as part of a process, rather than a single event in time. Participants should be given time to consider their decision;

49 Genetic and Metabolic Services Committee. 1997. Strategic plan for sub-specialist (tertiary) services for the children of New Zealand. Report for the National Review Group. 50 Forrow L, Wartman SA, Brock DW. Science, ethics and the making of clinical decisions: implications for risk factor intervention. JAMA 1988; 259: 3161-67. 51 Brock DW, Wartman SA. 1990. When competent patients make irrational choices. New England Journal of Medicine 1990; 322: 1595-99. 52 Geller G, Botkin JR, Green MJ et al. Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent. JAMA 1997; 277: 1467-73. 53 Grody WW, Pyeritz RE. Report card on molecular genetic testing. Room for improvement? JAMA 1999; 281: 845-7.

• the participants experiences, beliefs, and attitudes should be elicited prior to the consent process including the individual’s perceived risk of the disease;

• a variety of educational formats should be employed e.g. face-to-face, written information, video;

• specific information should be given on: o purpose of the test; o practical aspects of the test including the type of test, time for results,

results that may be obtained, the name of a contact person for questions or concerns, and information on how results will be communicated;

o issues around the interpretation of results and potential uncertainties; o prevention and treatment options; o psychological and social implications for the individual and their family

including insurance and employment risks; o confidentiality arrangements; o alternatives to testing including the option NOT to test.

• Informed consent should be provided in writing, and on a form which is easily comprehensible to participants;

• post test counselling should always occur regardless of the result of the test. There is also some acknowledgement that the level of informed consent may vary in accordance with the seriousness of the genetic condition, the predicted outcomes for the individual and whether there is a research component to the testing. There is a wide range of views, for example, on whether informed consent is required at all for newborn screening.54 55 Cross cultural issues are also of critical importance. Cultural attitudes towards whakapapa, individual versus group ‘guardianship’ of genetic material, and attitudes towards potential interventions such as termination of pregnancy will vary across cultural groups. A detailed discussion of these issues is beyond the scope of this report, but for more information see ‘A Maori viewpoint on genetic research and services’ by Aroha Te Pareake Mead in ‘Priorities for Genetic Services in New Zealand’,44 and ‘Whose genes are they anyway?’ by Deborah Baird and others.56

5.2 How is informed choice obtained in New Zealand? Individuals undergoing genetic testing within genetic services in New Zealand undergo pre and post genetic counselling by clinical geneticists or genetic counsellors who are accredited to carry out this work by the HGSA. This work is carried out using specified procedures, and written informed consent is obtained on what tests are being carried out, for what conditions, whether the sample will be used for research purposes, and whether (and when) results may be shared with the participant’s family/ whanau.

54 Mandl KD, Feil S, Larson C, Kohane IS. Newborn screening program practices in the United States: notification, research and consent. Pediatrics 2002; 109: 269-73 55 Hiller EH, Landenbuger G, Natowicz MR. Public policy in medical policy-making and the status of consumer autonomy: the example of newborn screening programs in the United States. American Journal of Public Health 1997; 87:1280-8. 56 Baird D, Geering L, Saville-Smith K et al. 1995. Whose genes are they anyway? Report of the HRC conference on human genetic information. HRC. Auckland.

It is less clear whether adequate consent procedures take place outside of the specialist genetic services. There are no studies on this in New Zealand, but the limited information from abroad suggest that, in general among health care professionals, knowledge about genetics is poor, and there is considerable variation in practice in relation to informed consent.57 58 Anecdotal information suggests that this is also the case in New Zealand.59 There is a number of potential impediments to informed choice which can be divided into:52

• situational barriers including the imbalance of power between the individual and the health professional;

• professional barriers including lack of knowledge on the professional’s part, difficulties professionals have in understanding probabilistic data, poor communication skills, cynicism about informed choice and tendency to be directive;

• participant barriers including the difficulties people have in understanding probabilistic data, and the lack of willingness of some individuals to be active decision makers.

Studying the extent to which informed consent occurs in clinical practice is notoriously difficult. There is a number of problems particularly the fact that information provided in a survey situation is unlikely to be an accurate reflection of what actually occurs in clinical practice. In addition, it is difficult to define how much information a health professional has to impart, and how much understanding is sufficient on the part of the participant to ensure informed choice has taken place. A number of components can, however, be usefully investigated. These include:

• a census of the status quo in relation to knowledge and experience of genetics among (non-geneticist) clinicians who are most likely to order genetic tests (such as general practitioners, paediatricians, oncologists, haematologists etc). This would include knowledge about the appropriate referral for genetic tests, implications of those tests, etc;

• an assessment of clinicians’ attitudes and expectations relating to informed choice in relation to genetic testing. Also barriers identified by clinicians in obtaining informed choice;

• identification of particular guidelines or consent forms that are used in clinical practice for genetic testing.

It is likely that both qualitative and quantitative approaches would be useful. For example, a series of focus groups or in-depth individual interviews would allow the identification and in-depth exploration of the issues from the perspective of clinicians. A written postal survey of randomly selected clinicians would be useful to identify variations in the extent to which individual clinicians order genetic tests, would provide more generalisable data about clinicians’ knowledge and experience with genetics, and their attitudes and practice of informed consent.

57 McGovern MM, Benach MO, Wallenstein S et al. Quality assurance in molecular genetic testing laboratories. JAMA 1999; 281: 835-40. 58 Burgess MM, Laberge CM, Knoppers BM. Bioethics for clinicians: 14. Ethics and genetics in medicine. CMAJ 1998; 158: 1309-13. 59 Personal communication, Dianne Webster, National Testing Centre

An assessment of the consent process from the perspective of the participants would also be useful. This would ideally involve the identification of individuals who had undergone genetic testing, which would probably require an initial approach by either laboratories or clinicians. This may be a barrier to achieving an acceptable response rate. If this limitation could be overcome, however, individuals could be assessed in terms of:

• whether they underwent pre-test counselling, and their knowledge of genetic testing as a result. This is important because it has been shown that during informed consent procedures, people tend to be informed more about the practicalities of the test, rather than aspects that would truly inform their decision relating to it;60 61

• how acceptable they found the process, and whether they perceived any barriers to being able to make an informed decision.

An assessment of consent processes from the perspective of Maori clients is also important. The priorities, and most appropriate methods should be identified within a Treaty of Waitangi framework, and it would be essential for a Maori researcher to be involved in this from the outset.

60 Strull WM, Lo B, Charles G. Do patients want to participate in medical decision making? JAMA 1984; 252: 2990-4. 61 Marteau TM, Slack J, Kidd J, Shaw RW. Presenting a routine screening test in antenatal care: practice observed. Public Health 1992; 106: 131-41.

Appendix: IANZ quality and service standards for medical testing laboratories May 2000 ISO/IEC 15189 will be the standard used to assess medical testing laboratories in New Zealand, as soon as it becomes available. In the meantime, ISO 9002 and ISO Guide 25 will continue to be used. The following set of quality and service standards are to be used in addition to the recognised international standards, to enable International Accreditation New Zealand (henceforth referred to as IANZ) to assess all aspects of medical testing laboratory services in New Zealand in a uniform manner. Compliance with all standards will be assessed by IANZ, and an appeal system is in place should any laboratory choose to query the interpretation or application of these standards. For the purpose of this document, medical testing laboratories include any facility performing medical tests, including near patient testing remote from an accredited laboratory. It does not include self-testing by patients (e.g. diabetic monitoring). (1) ACCREDITATION OF MEDICAL TESTING LABORATORIES 1.1 Accreditation Criteria

Criteria for accreditation shall include the Quality Management System requirements of ISO Guide 25 and ISO 9002 and the technical requirements as defined in the specific criteria documents available from IANZ. These criteria may be modified when ISO/IEC 15189 is published.

1.2 Accreditation Authority

These standards have been developed by IANZ who, as an accreditation authority, will in turn demonstrate full compliance with ISO Guide 58.

1.3 Time frame for Accreditation

Newly established laboratories wishing to be accredited by IANZ should begin formal communication with IANZ prior to opening, should be prepared to be assessed within six months of commencing operation, and should demonstrate full compliance with criteria for accreditation such that they can be accredited within twelve months of opening.

1.4 Published Accreditation Criteria

Quality management system criteria for accreditation are currently published as ISO Guide 25 and ISO 9002. These will be replaced in due course by ISO/IEC 15189. Additional technical criteria and standards for accreditation are available from IANZ, who retain copyright for all published material it has been responsible for developing. In some disciplines, additional technical criteria will also need to be considered. (E.g. GMP licensing requirements of blood transfusion services).

1.5 Notification of Suspension or Withdrawal of Accreditation

If any laboratory has a contract which requires accreditation as a prerequisite for providing a medical testing service, that laboratory assumes full responsibility for notifying the contractor in writing of suspension or withdrawal of accreditation within 48 hours of such

action being taken. Rights of appeal against suspension are defined in IANZ criteria documents.

(2) PATHOLOGIST STAFF

2.1 Qualifications and Recognition A Pathologist is a registered medical practitioner who has fulfilled all requirements, as defined by the Medical Council of New Zealand, to practise as a Pathologist. General Pathologists are defined as Pathologists who have trained in up to four disciplines, but who may have restricted their continuing work experience to one or more disciplines. Single Discipline Pathologists are defined as those who have predominantly trained and worked in only one discipline. Note: Exceptions to the above requirement will be considered on an individual basis (e.g. oral pathologists, endocrinologists, cytogeneticists, public health medical specialists).

2.2 Professional Development

To demonstrate continuing professional development, it is recommended that Pathologists should participate in the Royal College of Pathologists of Australasia (RCPA) Continuing Professional Development Programme (CPDP). This programme is available to non-Fellows. Participation in similar programmes (e.g. MOPS) may be considered as a suitable alternative, but the relevance of alternative programmes will be assessed. Note: Although the CPDP allows for the comparison of Pathologists with a similar practice profile, and may assist in the identification of inconsistencies in professional development, it is not a measure of practice competence. Other evidence of other continuing education and development will also be assessed (e.g. active participation in training courses, workshops, conferences, clinical meetings, journal clubs, QA programmes, etc.).

2.3 Pathologist Staffing All medical testing laboratories shall be under the direction and control of a Pathologist(s) appropriately qualified, experienced, and capable of interpreting all of the tests performed by the laboratory, who is also able to perform such tests which specifically require pathologist training. Pathologists shall have clearly defined and documented responsibilities. Direction and control includes establishing lines of communication such that the Pathologist(s) can be readily contacted by either the laboratory or clinical staff for advice. Management decisions which have any bearing on the quality of the clinical service being provided must be referred to the pathologist(s) for comment and approval, and must be documented. The duties of the Pathologist(s) should also include educational activities with both laboratory staff and the clinical staff within the institution.

In addition, an appropriate level of Pathologist staff in laboratories shall be interpreted as follows: (a) Major HHS and Community laboratories within each region shall employ Single

Discipline Pathologist(s) with training and experience relevant to each pathology discipline included within that laboratory, and to the range and complexity of the tests being provided

by each discipline. Pathologists with academic appointments will be considered on the basis of their contribution to the laboratory service.

(b) Laboratories with a resident Pathologist(s), who is unable to cover all disciplines, shall

invite appropriately qualified and experienced Pathologist(s) to visit and provide direction and control for those disciplines not covered. The visits shall occur with a frequency and duration consistent with the level of responsibility the visiting pathologist is expected to assume. The adequacy of such involvement will be judged following a peer review assessment, taking into account the level of daily/weekly communication which occurs between the laboratory and the visiting pathologist.

(c) Laboratories with no resident Pathologist, shall either be visited by appropriately trained

and experienced General Pathologist(s), or by relevant Single Discipline Pathologists. These visits shall occur with a frequency and duration consistent with the level of responsibility the visiting pathologist is expected to assume. The adequacy of such involvement will be judged following a peer review assessment, taking into account the level of daily/weekly communication which occurs between the laboratory and the visiting pathologist.

Records of visits shall be kept, including the duration of visit, topics and issues discussed,

and the outcome of advice which was given. If there is uncertainty about the requirements for Pathologist input to a particular laboratory, this shall be determined by the accreditation body after considering the range of tests performed and the workload undertaken by the laboratory.

2.4 Pathologist/Clinician Liaison

Pathologist(s) shall be available to provide clinical advice prior to test ordering and to advise on the interpretation of all test results. For some laboratories, this may entail referring the clinician to an appropriately experienced Pathologist in another laboratory. Freedom of consultation between Pathologists (including that necessary to gain a second opinion) or between Pathologists and Clinicians, must not be hindered by commercial or financial considerations.

(3) SCIENTIFIC, TECHNICAL and SUPPORT STAFF 3.1 Qualifications and Recognition

Scientific Officers shall hold advanced tertiary qualifications and/or have experience appropriate to the scope of testing and developmental work they perform. Technologists shall be appropriately qualified and registered as Medical Laboratory Technologists in accordance with Section 3 of the Medical and Dental Auxiliaries Act, 1985. Medical Laboratory Assistants may hold a tertiary qualification, or a Qualified Technical Assistant qualification, or have undergone relevant training specific to the tasks performed. Note: The appropriate mix of laboratory staff will be assessed and advised upon as part of the accreditation process.

3.2 Professional Development All Technologists shall fulfil the requirements of the NZIMLS/MLTB CPD Programme. Other laboratory staff shall participate in appropriate professional development programmes as they become available.

As an interim measure, Scientific Officers and Medical Laboratory Assistants shall participate in a range of learning activities that ensure continuing professional development. For example, these activities could include: - Conferences - Visits to other laboratories - Training Courses - Regional QC meetings - User group meetings - Seminars and lectures - Journal reading - Clinical or ward meetings, including case presentations As a guideline for a minimum level of participation, all key staff holding positions of responsibility would be expected to spend at least 15 hours in each 3 month period and all other support staff would be expected to spend at least 5 hours in each 3 month period participating in these activities, unless otherwise directed by the accreditation body following a peer review assessment . For part time staff, the minimum level of participation should be at least proportional to the above full time equivalent minimum. Detailed records of participation in these activities shall be kept, in addition to records of competency in the performance of key tasks in the laboratory.

3.3 Clinical Advice and Test Interpretation by Technical and Scientific Staff Technical and Scientific staff must make their qualifications and experience clear to clinicians when they give advice or interpret test results. The clinical interpretation of laboratory test results remains the responsibility of the supervising Pathologist(s) unless delegated by their written authority. It is recognised that a laboratory “result” may range from a report which provides a definitive diagnosis to data requiring Pathologist input for clinical interpretation. The Pathologist shall clearly define which results may be reported directly by Technical and Scientific staff without Pathologist input.

(4) QUALITY CONTROL PROGRAMMES 4.1 External QC

Laboratories shall participate in external quality assurance programmes relevant to the range of tests performed in the laboratory. Records shall be kept of the review by laboratory staff of external QC results, including details of corrective action taken to address less than optimal performance.

4.2 Sharing External QC Material In circumstances where the cost of subscription to a comprehensive range of external QC programmes (particularly for small laboratories) would be prohibitive, a formal arrangement for the sharing of QC material may be acceptable. In such circumstances, the integrity of the QC material and or the resulting reporting procedures, shall not be compromised. Note: For some testing disciplines (e.g. Cytology), the sharing of QC material is not practical and an individual subscription by each laboratory shall be necessary.

4.3 Internal QC All laboratories shall have established and documented internal QC procedures relevant to the scope and frequency of tests performed. Minimum guidelines for internal QC shall be detailed in the specific criteria documents for each testing discipline, and internal QC programmes shall be individually reviewed as part of the accreditation process.

Records shall be kept of all internal QC, including details of corrective action taken to address less than optimal performance.

4.4 Designated Responsibility for QC Medical testing laboratories, or (where appropriate) individual departments within laboratories, shall appoint a person responsible for Quality Control activities. This shall be a primary responsibility and the appointee shall be provided with resources and authority sufficient to carry out this role effectively. Primary responsibility implies that this task shall have a high priority, and shall not be compromised by other responsibilities. The time commitment will depend on the size and scope of the laboratory operation. Note: A deputy shall be appointed for the person having QC responsibility.

(5) PATIENT & SPECIMEN MANAGEMENT 5.1 Collection Facilities

Laboratories responsible for the collection of specimens from patients, or for conducting tests on patients, shall provide adequate facilities for this purpose. The facilities and procedures must comply with the requirements of the Health Information Privacy Code. These shall include: • A dedicated room offering privacy (i.e. separate to and closed off from the laboratory and

patient reception area). • Appropriate facilities and equipment (including emergency equipment where appropriate). • Detailed documented procedures (including emergency procedures). • Staff trained and skilled in the procedures being performed.

5.2 Specimen Labelling and Request Form Requirements

All patient specimens accepted by the laboratory for testing shall be labelled in accordance with procedures defined and approved by the accreditation body. Although special exemptions may apply (e.g. HIV) guidelines for minimum specimen labelling are as follows: • Family name (Surname) • Given name or initials • Date of birth or NHI number • Date of sampling • Time of sampling if relevant to tests requested • Site specimen collected from, if relevant.

In some disciplines (e.g. transfusion medicine) these minimum guidelines will need to be supplemented by further requirements as defined by a licensing body.

The accompanying request form shall include, in addition to the above:

• Name of requesting practitioner (legible) or practitioner’s code. • Clear indication of the tests requested. Where bar coding of patient specimens or request forms is practised, it is still necessary to meet the minimum labelling requirements. The laboratory shall have a documented procedure for recording and handling inadequately labelled specimens and request forms.

5.3 Informed Consent from Patients For the majority of laboratory tests performed, patient consent will have been obtained (oral, written, or implied) prior to the receipt of the specimen into the laboratory. In exceptional

circumstances (e.g. following needle stick injury during phlebotomy) the laboratory should comply with current legal requirements in obtaining patient consent for additional tests..

(6) TESTING CAPABILITY OF LABORATORIES

The testing capability of individual laboratories shall be assessed and approved by the accrediting body.

6.1 Criteria for the maintenance of testing competence

Laboratories shall demonstrate that technical competence is maintained with regard to each test included within the laboratory’s testing scope. While guidelines for minimum testing volumes shall be presented in the specific criteria documents for each testing discipline, interpretation will vary according to the technical complexity of the test and the required clinical reliability. Such interpretation shall be included as part of the accreditation process. Where testing volumes are below the minimum guidelines, the laboratory may be asked to demonstrate competency.

(7) TEST RECORDS AND REPORTS

7.1 Authorisation of Results Laboratories shall implement a system which allows for the identification of the person or persons responsible for key elements of each test process. In addition, those persons authorised to release test results, shall be identified. Note: Persons given authority to release results shall normally be approved by the accreditation body as “signatories”. In some cases, the release of results may be delegated to less senior staff.

7.2 Consistency of Reporting Laboratories providing a Histopathology service shall include the following information (minimum) on all Histology reports: • Testing laboratory identification • Patient demographic information. • Date of specimen receipt. • Clinical information identifying the specimen. • Macroscopic description (dimensions, mass etc.) • Microscopic description (where relevant) • Comments, conclusion or diagnosis • Names of reporting pathologist • Classification (SNOMED) if necessary • Date of issue of report • Name(s) of the clinician who referred the specimen and to whom the report is directed.

7.3 Electronic Transfer of Results It is essential that the integrity of data and confidentiality requirements are met during the transfer of results by any electronic system. Where the clinician requests the electronic transmission of test results from the laboratory to a location remote from the laboratory, the responsibility for ensuring the integrity of data transfer to the referring clinician and other designated addressees rests with the laboratory. At appropriate intervals, the laboratory shall provide a means of confirming the integrity of the electronic transfer process. This interval may vary according to the frequency and mode of transmission and the complexity of test data. Records of transfer integrity checks shall be kept.

7.4 Retention of Patient Records

Minimum retention periods for patient records and specimens shall conform to RCPA recommendations, Ministry of Health guidelines, and those defined by the accreditation body. Note: The term “patient records and specimens”, include items such as microscope slides, tissue blocks, electrophoresis strips, request forms, test reports etc.

7.5 Reporting of results on material referred to another laboratory When a laboratory refers patient specimens to another laboratory for testing, the referring laboratory shall report the test results received from the testing laboratory as follows: • Instruct the testing laboratory to send the original report directly to the person requesting the

test. In this case, the testing laboratory must also send a copy to the original referring laboratory.

or • Forward the original report from the testing laboratory in its entirety to the person originally

requesting the test. or • Where the referring laboratory has already performed related tests, any additional tests

performed by another laboratory may be reported as part of a composite report issued by the referring laboratory. In this case, the laboratory/pathologist responsible for performing each test in the composite report must be clearly identified.

Where all tests or the majority of tests, performed on a patient specimen were referred to another laboratory, the referring laboratory may not reprint the test results. Where test results are reported electronically, the requirement for traceability must be maintained.

7.6 Confidentiality All staff working within a laboratory service shall abide by the requirements of the Privacy Act in relation to patient privacy and result confidentiality.

(8) TEST PROCEDURES AND EQUIPMENT

8.1 Relevance of Methods Test methods used in medical laboratories shall be subject to yearly review to ensure the maintenance of contemporary standards. Method performance shall be monitored as part of the accreditation process. If a particular method no longer conforms to accepted laboratory practice, it shall be discontinued. In accordance with the criteria for the selection of test methods, test equipment shall also be subject to assessment to ensure continuing satisfactory performance in relation to acceptable quality and throughput parameters.

8.2 Equipment Maintenance and Replacement Programmes Laboratories shall maintain an appropriate maintenance programme for each key item of test equipment. Records shall be kept, including details of faults and corrective measures taken, equipment down time, etc. The equipment maintenance and performance records should be used to determine the equipment replacement programme.

(9) POINT OF CARE TESTING (POCT) 9.1 Management of Point of Care Testing Equipment

Testing equipment operated remotely from an accredited laboratory shall be subject to the same maintenance, calibration and QC criteria appropriate to the machine and the testing being undertaken.

9.2 Training of Staff All staff using POCT equipment shall have successfully completed a relevant training programme in the use of the equipment. Training records for non-laboratory staff shall be kept and should be reviewed regularly.

9.3 Laboratory Responsibility for Point of Care Test Results The accredited laboratory within an institution or laboratory service shall accept responsibility for the management of POCT equipment associated with that institution or service, including the training of staff using the equipment.

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