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Practical Aspects Genetic Testing NZ
Practical Aspects Genetic Testing NZ
March 2002
DIANA SARFATI
PUBLIC HEALTH PHYSICAN
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TABLE OF CONTENTS
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situation in New Zealand according to key published and unpublished documents, and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.
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,
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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
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
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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.
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/
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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)
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/.
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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.
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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
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.
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
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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.
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.
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.
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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.
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.
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/
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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.
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
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
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(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.
Page 14
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.
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.
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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
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
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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.
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.
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• 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
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.
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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
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
Page 19
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.
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.
Page 20
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).
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).
action being taken. Rights of appeal against suspension are defined in IANZ criteria
documents.
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).
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.).
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.
(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
Page 22
(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.
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.
Scientific Officers shall hold advanced tertiary qualifications and/or have experience appropriate to
the scope of testing and developmental work they perform.
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.
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.
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As an interim measure, Scientific Officers and Medical Laboratory Assistants shall participate in a
range of learning activities that ensure continuing professional development.
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.
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.
4.1 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.
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.
Page 24
Records shall be kept of all internal QC, including details of corrective action taken to address less
than optimal performance.
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.
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.
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.
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.
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
Page 25
circumstances (e.g. following needle stick injury during phlebotomy) the laboratory should comply
with current legal requirements in obtaining patient consent for additional tests..
The testing capability of individual laboratories shall be assessed and approved by the accrediting
body.
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.
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.
Laboratories providing a Histopathology service shall include the following information (minimum)
on all Histology reports:
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.
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.
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.
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.
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.
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.
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.
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.