Feedback received by the National Health Committee on the Diagnostics
Overview Strategic Assessments
Summary of feedback received
No
Organisation / Individual
D1
General Practitioner
D2
Royal Australasian College of Physicians
D3
Genetic Health Service NZ
D4
NZ Organisation for Rare Disorders
D5
Consultant Haematologist
D6
Dr Peter Stone
Professor Maternal Fetal Medicine
School of Medicine
University of Auckland
D7
Royal College of Pathologists
D8
National Laboratory Roundtable
D9
Royal Australasian College of Physicians
D1
12/04/2015 10:45 a.m
Thank you for the opportunity of feedback.
My thoughts/questions...
1. We include imaging & screening as "FSAs". As a GP a diagnostic test is often more useful than a specialist
consult. It keeps the patient pathway lean GP-->test --->GP, rather than, GP-->specialist --> test ---> specialist --> GP. Approval driven by patient need rather than their location or the clinician they are seeing. Guided by
pathways & the FSA prioritisation tool.
2. New or improved screening ? Patients are suffering and we are rationing their care, yet we also seeking
disease in the well. Ethically this is challenging. Does the balance need to be managing the sick / equity rather
than more screening ? JAMA Network | JAMA | How Useful Are Screening Tests?
http://jama.jamanetwork.com/article.aspx?articleid=2214070&utm_source=TWITTER&utm_medium=social_j
n&utm_term=163993131&utm_content=article_promotion%7Carticle_engagement&utm_campaign=article_ale
rt&linkId=13302712
3. How can public / private conflicts of interest be managed across the system ? What role / responsibility do
specialists have in managing the population health of their particular speciality ?
Kind Regards
XXXX
GP
D2
The Royal Australasian College of Physicians
13 April 2015
National Health Committee
1 The Terrace
Floor 2
PO Box 5013
Wellington 6011
Submitted via email to: nhc info@nhc.govt.nz
Please note this document
was uploaded from a secure
PDF. The formatting is not
reflective of the original letter.
Dear National Health Committee members,
Feedback on: Haematuria: Presentation,
Diagnostic Options.
Diagnostic Pathway and Alternative
Thank you for the opportunity to provide feedback on your Tier 2 document, Haematuria:
Presentation, Diagnostic Pathway and Alternative Diagnostic Options.
The Royal Australasian College of Physicians (the College), trains, educates and advocates
on behalf of more than 14,500 physicians - often referred to as medical specialists - and
6,500 trainees, across Australia and New Zealand. It represents more than 32 medical
specialities including paediatrics and child health, cardiology, respiratory medicine,
neurology, oncology and public health medicine, occupational and environmental medicine,
palliative medicine, sexual health medicine, rehabilitation medicine, geriatric medicine and
addiction medicine. Beyond the drive for medical excellence the College is committed to
developing health and social policies which bring vital improvements to the wellbeing of
patients.
The College's feedback is general in nature, as urologists, trained by the Royal Australasian
College of Surgeons, are the specialists most often involved in providing secondary care for
patients with haematuria.
The College understands the need for the National Health Committee (NHC) to make
assumptions in order to progress the discussion about the potential of genomics as a tool to
diagnose bladder cancer, which is a possible diagnosis for patients with haematuria, earlier
in the pathway of care. The College notes, however, that some of NHC's assumptions about
the numbers of patients undergoing various activities, as described in section 8 the cost of
haematuria diagnosis, of the document, may not accurately reflect the reality.
The College's members comment that, in practice, most patients in secondary care will have
imaging of some sort with many, but not all, going on to have diagnostic cystoscopy. This
situation is different from NHC's assumptions outlined in table 8. If not all patients in
secondary care with haematuria have diagnostic cystoscopy, then the costing model for
cystoscopies in section 8.2 is no longer accurate. In figure 3 in the document, it is noted that
P.O. Box 10 601 , Wellington 614 3, New Zealand
Sth Floor, 99 The Terrace, Wellington 601 1
Tel: (64 4} 472 671 3 l2 Fax: (64 4) 472 671 8
Email: racpr liracp.org.nz n Web: W\V\V.racp.edu.au
for 1,800 patients, urinary tract infection (UTI), is the final diagnosis. NHC does not, however, appear to
provide evidence anywhere else in the report to support the assumption that 1,800 of 3,000 patients seen
in secondary care will have UTI as the diagnosis. Most of the patients with haematuria seen in secondary
care do not a cystoscopy and therefore modelling costs are affected.
NHC's perspectives, as described in section 11 of the document, are rational, noting that it is too early in
the development of genomics, with not enough clarity around the effectiveness and cost-effectiveness
to support the use of biomarker tests ahead of current clinical practise. The College notes this is
a tier 2 document, and that the NHC intends to release further tier 3 analysis of diagnostic options for
bladder cancer in the primary care setting and the impact on secondary care for consultation later in
2015.
The College is grateful to be involved and trusts our comments are beneficial to the process. If you have
any questions, or would like to discuss any part of this submission, please contact Maureen Gillon,
Senior Executive Officer, at Maureen.Gillon@racp.org.nz.
Yours sincerely
A/Prof Mark Lane MBChB FRACP RACP
New Zealand President
The Royal Australasian College of Physicians
D3
14/04/2015 08:39 a.m.
Genetic Health Service NZ Response to the NHC paper-Genomics and the implications for
health care.
We appreciate being asked to feedback on your working document “Genomics and the Implications
for Health Care”.
Genetic Health Service New Zealand (GHSNZ) is a national service made up of clinical geneticists
(subspecialty of medicine) and genetic counsellors (MSc course in genetic counselling). We are an
outpatient based clinical service that sees a very wide range of referrals. A vital tool in our practice is
the ability to perform diagnostic genetic testing (on patients with disease) and predictive genetic
testing (testing other family members when a known genetic diagnosis is present in a family).
A recent development is that the reduced price and increased diagnostic yield of Next Generation
Sequencing technologies (NGS) has meant that many subspecialist clinicians are actively seeking to
incorporate NGS testing as part of their investigation of their patients.
When using NGS technologies in practice, many factors need to be considered: when testing is
indicated (clinical utility decision making), deciding which test to order, consenting patients,
interpreting results, feeding back results to patients, cascading testing to the extended family. A
significant knowledge base is required to perform these tasks in a safe and effective manner.
The availability of NGS testing raises very important questions about the relative roles of clinical
genetics and subspeciality services in managing genomic testing for patients and their families. We
will attempt to clarify some of these issues below.
There are a number of in depth reports that cover many of the broad questions that need to be
considered before introducing NGS in healthcare. Much of the accessible literature is from the UK
(see appendix for a few of the more relevant discussion documents).
Key Challenges and Possible Solutions
The NZ government needs to make genomics in health care a major priority.
Different countries are planning the medical genomics revolution in different ways. Many countries in
Europe (Holland, France, Switzerland) have well developed plans for the roll out of the genomics era.
These countries have placed the clinical genetics service at the centre of the model and built strong,
well staffed clinical genetics teams and laboratories with genomics expertise. Laws to protect patient
safety have been enacted. These require clinical geneticists to be involved in decision making for all
important complex genetic testing involving patients. There is a mandate that predictive genetic
testing must be performed by genetic counsellors.
Like much of Europe, the UK has recognised that genomics is a lynch pin in the development of
excellent patient care and is investing very substantial sums to develop a plan to implement this new
paradigm. The UK has taken the tack that genomics requires a knowledge revolution for all of health
care with clinical genetics acting in an oversight/advisory role. Currently, there are no concrete plans
as to how non clinical genetics physicians are to be adequately supported/educated to engage in
NGS activities in a clinically safe manner.
The factors that UK and European models share is that they have been working on a long term
strategy for some years and have recognised that considerable financial investment is required to
develop the infrastructure and staffing to allow for services to move successfully into the genomics
era. Investment in genomics is of direct benefit to health care but also touches on many other areas of
science and technology.
Additional investment in healthcare (on top of that already spent) in NZ is a challenge due to funding
constraints. However, a regionally driven, poorly coordinated, infrastructure, governance and skills
poor approach puts NZ patients at risk.
Australia has recognised the need for significant investment in researching this topic. The NHMRC
and Australian Federal Ministry have released a funding package of $25M for a multidisciplinary
group to undertake research aimed at developing a paradigm for the integration of genomics medicine
into healthcare. This is largely technology focussed. All the funding will go to one group. See the
NHMRC website for details.
The HPC (Hospitals Practice Committee, includes NZ) has set up a Genomics in Clinical Practice
Working Group to address the practicalities associated with the use of genetic technology in clinical
practice. These two groups will have complementary roles. They are at the start of this process and
details of models of care are not clarified.
There is need for a long term workforce plan for clinical genetics service staff
The introduction of microarray technology (which requires expert our interpretation) was introduced 4
years ago and has led to a significant climb in referrals for advice and resulted in long delays before
some patients are seen due to long waiting lists. There has been a need by the NHB to invest in a
backlog project to address the waitlist.
Increased public awareness of such issues as familial breast cancer has led to a similar increase in
referrals for the genetic counsellors. We would expect that further introduction of NGS technology and
increased public awareness of familial aspects of genetic risk will lead to significant further demands
on the clinical genetics service.
The RCP in the UK and RACP in Australia is looking into ways of educating subspecialist physicians
in genomic issues but there are no current training programs for other clinicians that are available that
have demonstrated dramatic upskilling of these clinicians to practice independently of clinical genetics
services.
There is a long lag time for recruitment of clinical geneticists (typically>2 years). If the government
does not act now to increase FTE to enable active recruitment it will face a dramatic skill shortage of
clinicians central to genomic interpretation just when the need for their expertise is at its greatest.
There is urgent need for a long term workforce plan.
We are in favour of an approach that involves strengthening of the clinical genetics service to enable
us to have the resources to support other clinical services in organising some of the proband genetic
testing (in specific clinical situations).
The type and quality of NGS S testing performed will have a major impact on future workload
for the clinical genetics service and potentially on patient safety.
When deciding what kind of testing to offer, there are two main options:
1) Analyse only a well defined limited gene list linked directly to the patients presenting phenotype
(gene panel approach). This is the best approach when the patient has a well defined phenotype.
2) Interrogate the whole exome or genome for sequence changes. This kind of testing is often more
useful when the patients phenotype is not clear. However the down side of such testing is that
this kind of “open” sequencing can result in finding more variants of uncertain significance
(VOUS) and incidental findings (IF) which are findings not at all related to the reason why the
patient is being investigated in the first place.
The NZ health service is resource constrained and needs to utilise technology to maximise finding
answers to a clinical question while minimising the need to spend time interpreting results of uncertain
signficance.
GHSNZ is concerned that inappropriate use of testing with high VOUS and IF rates (both clinical and
research), there is a significant risk that GHSNZ will not have the staffing levels to respond rapidly to
requests for interpretation of VOUS data and valuable resources will be diverted to this task. There
will also be a risk of clinicians outside the service misinterpreting genetic test results (which can very
commonly happen if there is a lack of expert knowledge).
For the reasons above, if New Zealand is to invest in more extensive NGS testing locally, GHSNZ
needs to be central to the decision making process about what kind of testing is developed.
Our service feels that (at least in the short term) most testing ordered by other clinicians should be
based around the concept of the gene panel (a well-defined list of genes for which testing is indicated
for a well-defined phenotype). Access to exomes should be limited to those cases where clinical
phenotype does not fit well into the gene panel approach or as a second line test. If large scale testing
is to be performed in NZ there needs to be sufficient funding for bioinformatics expertise to be
developed as part of any testing package. Those funding testing need to be aware that not
infrequently there will be a need to test both parents to aide in interpretation of the probands result
(which may increase the cost of testing by 3x).
Access to complex genomic testing should be justified by clear standardised transparent
criteria with evidence to support clinical utility.
The majority of the GHSNZ testing budget is spent on genetic testing for genes where there are well
developed tools for deciding on clinical utility (BRCA gene testing etc). We have a well-defined budget
and a long history of making clinical utility decisions.
If genetic testing is to be introduced for use by other clinicians, there need to be robust methods of
gatekeeping.There are a number of ways that gatekeeping can be tackled:
1) Develop well defined budgets specific to genetic testing for each service: In practice much of
the gatekeeping for genetic testing in the UK is done by local clinical genetics service staff
who often hold the hospital budgets for sendaway genetic testing and are therefore in a
position to make decisions about what testing can and cannot be ordered by other services.
GHSNZ needs to make it clear that it does not want to be the budget holder for all
subspecialty genetic testing and does not want to directly gatekeep other services budgets.
2) Train clinicians in how to make clinical utility decisions: Some labs in the UK like Cambridge
have introduced “non-routine genetic testing forms” that need to accompany requests for
genetic testing. These forms make the clinician justify the clinical utility of genetic testing.
GHSNZ in Auckland has been working with several of the subspeciality services using
multidisciplinary meetings to improve clinical utility decision making with some success.
3) Develop criteria for access to genetic testing at the level of the laboratory: The UK has tried to
develop criteria which can be used to in an automated fashion to limit access to genetic testing
for a given subset of genes to appropriate groups of clinicians and limited to certain clinical
scenarios (the UK Genetic Testing Network). Currently, this is of limited utility for several
reasons: the list of genes for which criteria apply is relatively small, the criteria for allowing
testing are relatively broad and work on developing clinical utility criteria are a few years
behind so criteria for gene panels are still in the development stage. Clinical utility gene cards
have been developed by a European lab consortium with the same aim but these are user
unfriendly in clinical practice. You cite the ACCE framework. This is a good starting point but
NZ does not have the resources to reinvent the wheel in terms of developing access criteria
for the vast array of testing that is available in clinical genetics labs at present. EGAPP is a
review process for criteria to access a very small number of higher volume very specific tests
and is not broad in its scope. The UKGTN network is the best available and could be used in
NZ as part of a gatekeeping mechanism (recognising its limitations).
There is already a trend in NZ for subspecialist physicians to be ordering their own genetic testing
either with or without the involvement of the clinical genetics service. Some subspeciality services
actively seek our advice while others prefer to attempt to self educate about genetic issues and work
completely independent of our service which is of concern.
GHSNZ would prefer to take a central role in gatekeeping but our lack of staff, lack of desire of some
other services to engage productively with us and budgetary issues, all combine to make this a very
difficult proposition.
A combination of physician education, laboratory gatekeeping with the use of available existing
criteria and advice from the clinical genetics service to the lab may be the best available approach at
present.
A national approach to solutions will result in equity of access to genetic testing for all NZ
patients
GHSNZ is a national service. We are committed to equitable access to genetic testing and are willing
to engage to create a working practical answer to the issue of gatekeeping genetic testing. However,
we do not want to see a piecemeal approach where rules for access to testing vary across the
country. Without a national approach, there is a real danger that genomic medicine will favour those
patients in centres that have tertiary/quaternary hospitals when this care needs to be available across
the country.
One option for equitable access to genetic testing is the development of national guidelines for access
to testing for genetic conditions where the volume of testing is reasonably high. We acknowledge that
guidelines take time and effort to write but if a subspeciality wants to undertake a substantial volume
of testing for a specific condition, an argument can be made that a protocol needs to be developed by
that service and agreed upon (with GHSNZ involvement) before such testing can be readily accessed.
The national basis of such protocols would help to aide in equitable access across the country.
Consenting processes need to be a mandatory part of NGS testing
It is the responsibility of the referring clinician to provide transparent information and to seek consent
relating to targeted and open sequencing and analysis. Clinicians ordering such tests should refer
patients to genetics if unable to discuss these issues fully.
There is need for an interim national consensus approach to the how NZ labs approach the
identification of IF’s.
There is on-going international debate about how analyses of NGS data should be handled to mask
or identify incidental findings (IF). There is no international consensus and views differ widely
regarding the appropriate approach. Research on clinical benefit and effects on patients after result
disclosure are lacking.
The clinical genetics service is where most patients with IF’s will end up for advice. Clinical geneticists
are fully aware of how hard it can be to give accurate advice regarding appropriate management of
many IF’s (often in contrast with other clinicians and labs in NZ who actively go out of their way to
look for IF’s).
We would suggest that the identification of IF’s in clinical practice is currently of secondary importance
and until more research is available regarding the utility of searching for IF’s, New Zealand labs take a
conservative approach to this issue. This is another reason why GHSNZ needs to be actively involved
in development of NGS if it is going to be performed locally.
Predictive testing should only be done by registered genetic counsellors working within the
GHSNZ umbrella.
There needs to be high level recognition that GHSNZ is the only centre that should be able to perform
predictive testing for asymptomatic patients at risk of a serious genetic disorder (as recognised by
most other Western countries). Currently most NZ labs gatekeep this issue and do not allow for
subspecialist clinicians to organise for testing on asymptomatic family members without involvement
of the clinical genetics service. However, an increasing number of subspecialist doctors feel that if
they can order proband testing, they should also be able to perform predictive testing and could
possibly arrange this themselves in overseas labs. There needs to be recognition at a high level in the
health service that it is only appropriate for the trained staff of GHSNZ to undertake this role.
GHSNZ needs to set up a Centre for Genetics Education
The UK is the leader in developing programmes for teaching mainstream clinicians about genetics. It
has a National Genetics Education Centre, which is involved in many initiatives including engagement
with the Royal Colleges and the development of video educational resources.
The NZ Government has not yet allocated any resources to the upskilling of the health workforce in
genomics issues. I would suggest that we set up a Centre for Genetics Education under the auspices
of the Genetic Health Service NZ. The UK has many excellent initiatives and materials that we could
draw upon, as well as expertise and experience that they are very willing to share with us. Australia
would be another obvious source of expertise.
Suggested useful documents that cover some of the issues
PHG Foundation. Realising Genomics n Clinical Practice. December 2014. Available on PHG
Foundation website.
D4
15/04/2015 04:16 p.m.
To the National Health Committee,
This submission is from NZORD, the New Zealand Organisation for Rare Disorders, a charitable trust
set up in 2000 to represent the interests of those affected by rare disorders (prevalence less than 1 in
2,000). We seek to improve information, prevention, diagnosis, clinical care, community disability
support, income support, and research, for the benefit of patients with rare disorders and their
families.
Rare disorders (about 7,000 of them) collectively impact on about 8% of the population, and many of
them represent high levels of mortality, morbidity, chronic health issues and disability among New
Zealanders. They are high users and often very expensive users of health, disability support and
social services.
Submission:
1 – Early and accurate diagnosis is widely accepted as the vital factor for access to appropriate
clinical care, disability support, pharmaceutical treatments, surgery, and more, in our health system.
Misdiagnosis and delays in diagnosis result in a very substantial burden of disease on rare disease
patients and their families, and significant direct costs to our health system through many repeat visits
and tests, and inappropriate interventions.
2 – Significant incremental progress was made over the post-WW2 decades to greatly improve
prevention, screening, diagnosis and care for rare disorders. We now face a quantum leap forward
with advances in technologies to screen, test and diagnose sooner and more accurately. However
there has been a significant delay in New Zealand in responding to these new opportunities and the
challenges that come with them, even though these advances offer the most significant and widereaching beneficial impacts that could accrue to the entire community of rare disease patients and
their families. These delays also continue avoidable health sector costs as described above.
3 – New Zealand’s health system has adopted new innovations in screening, prevention and
diagnosis in fits and starts over the decades. More recently there was a significant wave of new
service development and uptake in the period 2003 to 2008 (approximately) where improvements to
genetic services, expanded newborn metabolic screening, improvements to ante-natal screening, the
introduction of pre-implantation genetic diagnosis, and starting newborn hearing screening, saw us
tending to “catch up” with developments elsewhere. Unfortunately we have slipped behind again,
significantly.
4 – The consultation documents from the National Health Committee offer some useful commentary
from an “overview” perspective, but they also miss several important aspects of the current situation
and future opportunities, which we address here with emphasis on those issues we consider to impact
significantly on rare disorders:

The papers do not address the need for our National Screening Unit to maintain a leading (or
at least “fast-following”) approach to conditions that should now be included in our newborn
screening programmes. More progress should have been made by now in adding SCID and
other conditions to the Guthrie card test, and pulse oximetry testing for critical congenital heart
disease should also be at the implementation phase by now.

Nor do the documents mention non-invasive prenatal screening/testing as a rapidly advancing
technology that will have significant impact on ante-natal screening. This impact will be
imminent, if not already beginning, as a result of private provision of commercial tests. That
will provide significant challenges for equity, access and standards, as well as ethical and
social issues to address, and action should commence on this promptly.

Pre-implantation genetic diagnosis is mentioned but simply in terms of procedures done in one
year. This understates the enormous beneficial impact of over 300 procedures performed in
NZ since this service began, in avoiding possible repetition of serious conditions for more than
200 couples. It also misses important questions of administration of the funds for this tiny
niche service which can be problematic when the $500,000 per annum is divided into several
regions with different contract managers and different approaches to contracting. This makes
equity of access and consistency of delivery vulnerable to these differences. This has
previously been addressed via the National Health Board, whose interim solutions now seem
vulnerable to the independent behavior in one region.

Problems with quality standards in ante-natal ultrasound screening are not addressed. This
seems to be a major risk that needs attention, and at the same time this method of ante-natal
screening might need to be changed considerably with any introduction of non-invasive
prenatal screening/testing. This area needs urgent consideration and review.

The papers do not address the process for managing the integration of these technologies into
clinical practice, nor the significant clinical safety, training and budgetary issues. In the
absence of a consistent national approach, it seems that some sub-specialties may be
adopting their own approach when there may well be uncertainty about clinical validity and
clinical utility of some testing.

Commercially provided private NIPS/T will impact on public health referrals through follow-up
requests, but the validity and utility might not be established to an acceptable level. In some
jurisdictions such testing is defined as a medical device to ensure some control versus
uncontrolled introduction. New Zealand needs to make decisions about management of this
possible impact on public health budgets and services.

Laboratory alignment and integration in a common set of guidelines and decision criteria for
testing should be established to avoid a piecemeal and inconsistent approach. This needs to
be established by a working group with appropriate expertise, including consumer
representation.

We note that much of the new technologies described are likely to have greater impact and
application for rare genetic disorders and some cancers, than for common diseases. For
example, exome sequencing and whole genome sequencing can increase the strike rate in
diagnosing many rare conditions from 14% (as noted in the report using current technology) to
a much improved rate of 30%. Further improvements are certain to come, yet there needs to
be work done promptly to decide which panels or sequencing tests should be done for which
presentations, who should order them, who should do them here, and which should be paid for
from overseas labs.

In keeping with the point immediately above, the value and use of genomic technologies for
common diseases is likely to be much less clear and in a much longer timeframe for
implementation, than for rare diseases. The NHC should take this into account in its
assessment of this topic.

Though the conditions for which the technology will yield most benefit are rare, they are
certainly not insignificant in terms of disease burden and health sector costs. Research
NZORD is currently doing suggests average costs for 9 selected rare inherited disorders can
be around 9 times the average health spend in our population, with some of them very much
higher than that level too. We expect to have this information ready for publication when last
details are extracted from Ministry datasets and we are happy to discuss this with you if you
wish.
5 – We note that comparable jurisdictions such as the UK and Australia have already taken steps to
implement genomic technologies and other screening and diagnostic advances into clinical practice.
We submit that this should be given similar urgent consideration for incorporation in our health
system.
6 – The process for new technology implementation should ensure well integrated consumer interests
in evaluation and implementation decisions, but at the same time there is no need to totally reinvent
the wheel around some of the ethical, legal and social debates. They have been canvassed in great
detail for more than 2 decades now, with emerging consensus on most approaches to be taken. This
process needs effective but also efficient consideration in parallel with the technical and clinical
evaluations.
Conclusion:
An important pre-requisite for these possible interventions in the diagnostic dimension is establishing
the validity, utility and acceptability of the technology and to ensure our workforce and health sector
systems are up to speed to implement them reliably, consistently and safely. Work should start on this
promptly because there will always be implementation delays, and lost opportunities are measurable
by the day. The work needs to evaluate technical issues, clinical utility, align systems and services,
review ethical considerations, conduct translational research where needed, and evaluate workforce
capacity and training, to ensure the most appropriate and acceptable application as soon as possible.
More needs to be done faster, to avoid falling further behind best practice and equitable provision. An
action plan needs to be put in place, to implement now what is validated and useful for health
outcomes and quality of life, and to prepare for what is coming.
Thank you for the opportunity to submit on these important issues. We are more than ready to discuss
further with you if you wish.
Regards, john
John Forman
Executive Director
NZ Organisation for Rare Disorders
Post: PO Box 38-538, Wellington Mail Centre, Petone 5045, NZ
Street: 228 Tinakori Rd, Thorndon, Wellington 6011, NZ
Email: exec.director@nzord.org.nz
Web: www.nzord.org.nz
Additional Information sent from John Forman on 22/04/2015 02:58 p.m
Hello Janine and Marty,
Thanks for this.
An additional (late) comment from NZORD:
There is in fact another possibility in screening the should be explored, but not mentioned in our submission.
Screening in teens or early adulthood for carrier status for certain inherited diseases, is well established in
particular communities such as Ashkenazi Jews and in Cyprus. In general this approach has not been
considered acceptable for most other populations, yet advances in technology are making it feasible for
selected conditions to be considered for this. For example, screening for triplet repeats in young women who
may be at risk of having children with Fragile X.
In fact, X-linked conditions might be the most obvious candidates for such screening as opposed to more
problematic issues related to carrier status for recessive disorders.
I think any report that provides an overview of potential developments in the screening area, certainly should
refer to this as an area for exploration and possible development of a programme. I think the NSU should also
have it somewhere on its own strategic plan.
Regards, john
John Forman
Executive Director
NZ Organisation for Rare Disorders
Post: PO Box 38-538, Wellington Mail Centre, Petone 5045, NZ
Street: 228 Tinakori Rd, Thorndon, Wellington 6011, NZ
Email: exec.director@nzord.org.nz
Web: www.nzord.org.nz
D5
16/03/2015 10:35 p.m
I am a consultant haematologist at XXXX. I am writing to provide feedback to your document, “Tier 1 –
Genomics and the Implications for HealthCare”
Overall, this document focuses the role of specialist genetic services, but takes little account of the genetic
tests, which are part of routine clinical practice in my own field (malignant and non-malignant haematology).
We are high-volume users of genetic tests, and, as we are dual pathology/medicine trained, we are often
responsible for reporting the results of genetic tests and for developing local policies.
Section 1: Introduction
Where you provide examples of malignancies for which genetic markers establish choice of
therapy, you should include haematological malignancies (particularly leukaemias): for example, in
acute myeloid leukaemia, FLT3 ITD and NPM1 status are routinely used to select patients for
allogeneic stem cell transplantation in first remission; in chronic lymphocytic leukaemia, TP53
mutation and/or deletion status is routinely used to select first-line treatment (and, in fact, is required
by Pharmac funding criteria for rituximab); in acute lymphoblastic leukaemia, presence of BCR-ABL1
determines first-line treatment.
Section 2.2: Disease diagnosis
Much more routine examples of genetic tests for disease diagnosis include: factor V Leiden
testing, haemoglobin alpha gene testing (to detect alpha0 thalassaemia), JAK2 V617F mutation status
(required to diagnose polycythaemia vera), BCR-ABL1 molecular status/FISH (for chronic myeloid
leukaemia), CCND-IGH rearrangement status (for mantle cell lymphoma)
Section 4.4: Clinical information
“Linking results of genomic testing to the patient record may allow effective use of the information…”
I would go further, and point out that, “Including results of genomic testing in the patient record may be
necessary for effective use of the information”.
We routinely undertake many phenotypic tests with genetic implications (e.g. sickle cell disease screening,
factor assays for haemophilia). I consider it highly inconsistent to exclude clinically-important genetic results
from electronic records, while including results of such phenotypic assays, and of other sensitive tests (e.g. HIV
or hepatitis serology). There are serious risks of excluding information from the electronic record, as well as of
including it.
Section 7: New Zealand services provision
In my view, this section belittles the current, and largely highly successful, role of hospital laboratories in
providing routine genetic assays. Bear in mind that the number of genetic assays requested overall in NZ is
orders of magnitude greater than the 2972 tests requested by the Genetic Health Service New Zealand. The
discussion of risks of genetic tests in this section fails to recognise that New Zealand’s clinical laboratories
undertaking routine genetic tests are generally:
- already participating in external quality assurance schemes, and
- assessed and accredited by IANZ, and
- developing and conducting these tests under the supervision of trained pathologists, with pathologist
input into quality assurance, reporting of results, and clinician liaison
As a clinician and haematopathologist, who engages regularly in multidisciplinary and diagnostic meetings, I
take particular issue with the following paragraph regarding ‘companion diagnostics’:
“Genetic testing is done in ‘standalone’ laboratories and can be an income stream for the laboratory. Advice on
clinical utility is not requested and requests come via clinicians who may not have sufficient understanding of
the clinical utility of the test.”
I consider this is a sweeping and unjustified comment. I suggest that you rephrase this as, “Genetic testing is
sometimes undertaken in ‘standalone’ laboratories. In this instance, there may not always be effective liaison
between clinician and the laboratory to communicate the clinical utility and limitations of the test”.
Thank you for taking my comments into account.
Regards,
XXXX
Consultant Haematologist
D6
13/04/2015 02:09 p.m.
Submission to National Health Committee on Diagnostics Overview
Thank you for the opportunity to comment.
I do so both as an individual professional actively involved in clinical service as well as an advisor to
the National Screening Unit, Antenatal and Newborn Screening Division.
I have also chaired a Health Workforce New Zealand Working Group which has taken a life course
approach to preconception, pregnancy and first 3-5 years of health care.
In reading all the documents under the Diagnostics Overview and noting the brief of the Executive as
“The NHC Executive is the secretariat that supports the Committee. The NHC Executive’s primary
objective is to provide the Committee with sufficient information for it to make decisions regarding
prioritisation and reprioritisation of interventions and services”…. I am concerned about certain
omissions and lack of important detail which is necessary to inform the Ministry of Health and the
Minister of Health. Without wishing to be too critical, but noting the aim of the opening of the
documents for comment, I do not sense that the papers indicate any actions in the short to medium
term to improve or expand these services. We are in the midst of a revolution in what might be termed
screening and diagnostic genetics which may have far reaching ( generally positive) implications and
outcomes, but which requires careful management including the development of national services and
standards and a national Bioethical debate. ( Maybe reformation of the Bioethics Council would be
useful).
•Tier 1 - Genomics and the Implications for Healthcare:
This paper is too brief to really give a sense of what is possible and what is actually happening now in
New Zealand. It has scant mention of the pre and early pregnancy area. There are established and
potential pathways which need development. One example is the prenatal fetal genotyping of blood
group to target resources in this case antenatal Anti D immune prophylaxis. In this area New Zealand
is now a long way behind other developed nations and ( as you might expect) women know this
through their use of the Internet. From a national perspective, a new paradigm of early –prenatal risk
assessment for many diseases leading to confirmatory diagnosis and care pathway stratification will
be the future of maternity care. This needs to be embraced if we are to see real changes to perinatal
outcomes.
•Tier 1 - An Overview of Screening in New Zealand
This paper does not really discuss the evidence and omits virtually all of Non Invasive Prenatal
Diagnosis(NIPT). This is here now in the private sector with off shore testing – with all the problems
that brings-, plus it has an increasing range of conditions for which the companies will issue results. A
very large driver to introduce publically funded NIPT now is the poor performance of the current
screening for Down Syndrome and Other conditions, with a detection rate of 78% and a false positive
rate of ~3%. (Draft Monitoring Report National Screening Unit) This poor performance is in large part
due to problems with ultrasound standards in New Zealand. NIPT can offer substantial improvements
in performance with a cost neutral model ( as modelled in the UK recently).
At this time there is little hard data on preeclampsia screening but there could be direction given to the
to be reformed National Screening Advisory Committee to research this as a priority.
Diabetes screening in pregnancy remains controversial, as the benefits from screening have yet to be
shown and whether or not gestational diabetes should be considered a disease entity is also
controversial. Should New Zealand go anywhere near adopting certain international “guidelines” for
diabetes in pregnancy screening, it will cause a significant increase in clinical workloads for less clear
outcome benefit. This issue is far from settled.
There is good evidence for SCID screening and also pulse oximetry – not the least because this has
the potential to detect life threatening fetal –neonatal cardiac disease that is either not detectable or
not detected by prenatal scans.
Where there is good evidence or where there is controversy that needs resolution, the document
needs to provide a strategic direction.
One of the biggest challenges in any screening , but is very apparent in antenatal, is inequality. This
has arisen and has not been addressed in the antenatal area. It is due to many factors , but this is a
key fact which needs to be highlighted in the documents.
•Tier 1 - An Overview of Laboratory Services in New Zealand
There is an urgent need for a rational approach to the high tech and generally expensive testing that
is developing , an example being around gene testing – sequencing or single nucleotide
polymorphism(SNP) testing. In a small nation such as New Zealand , it is simply not sensible to
duplicate or triplicate services.
There is a need to have more fairness and equity so that all people have access to an agreed
schedule of testing. There is variation around New Zealand in how genetic tests are available.
A further pressing issue around quality assurance and cost is imaging services. The NHC document
does not really address this at all yet imaging is a test and should be subjected to the same QA and
rigour as what has traditionally be seen as a “lab” service. My comments around the quality of
prenatal scans are a case in point where poor or absent QA is reflected in poor performance and yet
costs are not tied to outcome.
There are few incentives for clinicians to restrain use of blood or image based testing because the
budget for tests is separate from that which the clinician has. Strategies for some oversight of testing
such as a new approach to schedules for primary tests and a schedule for those which can only be
initiated after referral are needed.
•Tier 1 - An Overview of Imaging in New Zealand
See also comments above. The paper on imaging gives a very “traditional” view of imaging
It states for example… “Radiological diagnostic imaging services provided include plain X-rays,
computerised tomography (CT), magnetic resonance imaging (MRI), ultrasound and nuclear medicine
imaging techniques. These modalities provide images that are interpreted to assist in the diagnosis of
disease”. The problem is that in maternity for example ( but in other areas as well) scanning is
screening where there may be no disease- and pregnancy is hardly a disease-.
Also, ultrasound in pregnancy is performed by sonographers in the main but also obstetricians,
maternal fetal medicine specialists, and sometimes by radiologists themselves though more typically
they report scans off line- which is one of the quality issues. Fetal MRI is also being increasingly used
both for diagnostics prenatally and after a fetal loss especially where post-mortem is declined.
Technology is now available to permit streaming of ultrasound so that remote centres could have live
scanning being reported by a senior elsewhere. The radiology sector has been slow to adopt these
technologies.
Point of care scanning is now done by many medical disciplines and in future nursing and midwifery
will need to embrace this technology. It would be one way of achieving equity of access and
improving care.
All the initiatives mentioned above would be needed to be a in a strategic paper.
In addition, QA has to be addressed as does the matter of appropriateness or usefulness of the
increased utilisation of imaging modalities.
Finally, there is great inequality in imaging services and availability around New Zealand and the part
charge for prenatal scans has been identified as a major barrier to access.
There is no reason at all why imaging should not be considered a “test” and be treated like all other
tests on a schedule. DHBs increasingly do not see it their role to provide imaging for primary health
care, yet so much imaging is duplicated once a patient is referred or admitted. DHBs are used as
training institutions and as such they not only need a “patient” flow but they should be entitled to
receive the revenues that accrue in the private sector.
The cost model of all testing be it bodily specimens or images needs to be investigated- these are all
part of the diagnostic pathway to a clinical outcome.
Summary:
I have a host of references I can provide for many of the sections on which I have made comment.
We are moving into a new era of medical diagnostics. We talk of personalised medicine and this will
occur to some extent , but there will always be dysfunction and (as the geneticist will tell us) the
phenotype does not always reflect the genotype. Epigenetics- the interplay of environment and the
genes- will also have effects but there are other influences on health such as external factors which
are non genetic for which labs( specimens and imaging ) will play a vital role.
I work closely with others in Genetics and other disciplines and I have not commented upon areas
which I believe have been covered by other groups.
It is good that the NHC has made a start, but I would have liked to have seen more depth and
potential action plans or identification of areas of controversy where work is needed.
Dr Peter Stone
Professor Maternal Fetal Medicine
The University of Auckland
12 April 2015
D7
D8
D9
The Royal Australasian
College of Physicians
New Zealand
5 May 2015
National Health Committee
Clo NHC Executive
Ministry of Health
Via email: nhc
consultation@nhc.govt.nz
Dear members of the National Health Committee
National Health Committee consultation on Overview of Laboratory Services in New
Zealand and Overview of Imaging in New Zealand
The Royal Australasian College of Physicians (the College) thanks the National Health Committee
(NHC) for the opportunity to submit feedback on a range of Diagnostic processesas part of
their Tier One Consultation package. The College has received feedback from its members on
the Overviews of Laboratory Services and Imaging in New Zealand, and this is detailed below.
The College trains, educates and advocates on behalf of more than 14,500 physicians - often
referred to as medical specialists - and 6,500 trainees , across Australia and NewZealand . It
represents more than 32 medical specialities including paediatrics and childhealth, cardiology,
respiratory medicine, neurology, oncology and public health medicine, occupational and
environmental medicine, palliative medicine, sexual health medicine,rehabilitation medicine,
geriatric medicine and addiction medicine. Beyond the drive formedical excellence the College
is committed to developing health and social policies which bring vital improvements to the
wellbeing of patients.
Ensuring the quality of laboratory and imaging services system in New Zealand is vital. The
diagnostic testing performed by laboratories is a core component of a sustainable, integrated
health care system. The services offered by laboratories are a crucial link between primary and
secondary care, informing the referrals process and clinical decision-making .
Overview of Laboratory Services in New Zealand
The College encourages the NHC to consider a strategic approach to laboratory testing in New
Zealand with a particular emphasis on:
• multiple-level workforce planning (from technicians and scientists to consultant
pathologists);
• committing to developing a structured career path for medical laboratory scientists,
thereby retaining these experts in New Zealand laboratories ;
• exploring longer-term contracts and expanding the public-private partnership model,
with appropriate commercial risk sharing between DHBs and private providers;
• development of a national process to assess , evaluate and introduce new laboratory
tests based on evidential best practice; and
• encourage research into timely and cost-effective laboratory testing, and reduce
numbers of unnecessary tests.
P.O. Box l O 60 l , We llington 6 1 43, New Zea land • 99 The Terrace, We llington 60 l l •
Tel: (64 4) 4 72 671 3 • Fax: (64 4) 472 67 1 8 • Email: racp@racp.org.nz • Web: www. racp.edu.au
The College's feedback on laboratory services is informed by Fellows of the New Zealand
Adult Medicine Division Committee, many of whom are engaged with the diagnostic work of
hospital and community laboratories on a daily basis. Their feedback on specific sections of the
consultation document follows :
2.3 Workforce
The College found the short paragraph (p9) relating to the medical laboratory workforce quite
inadequate . What is written fails to register the complexity of the environment and its challenges
. A discussion around the workforce demographics and the challenges of working in the medical
laboratory environment would be more constructive . The major issues of workforce recruitment,
training , retention and continuing education, are significant risks facing every laboratory in
New Zealand .
The College notes that the demographics of the medical laboratory workforce have been welldocumented by the professional bodies of medical laboratory scientists and pathologists.
Medical laboratory technicians and scientists remain on Immigration New Zealand's Immediate
and Long Term Skill Shortage Lists1 2 . Similar to other subsectors of
the health workforce in New Zealand, the laboratory workforce is ageing . Data collected by the
Medical Council of New Zealand show that 57 per cent of pathologists practising in New Zealand
are aged 50 or over; with 23 per cent aged 60 or over 3. As older practitioners tend to work
shorter hours, there is the potential for laboratories to rely heavily on lessexperienced technicians, and increase pressure on operations out-of-hours . Potential impacts
of this trend are an increased risk of laboratory errors.
2.4.2 The laboratory warehouse and laboratory repositories
A national laboratory test repository linking all regions in New Zealand is strongly supported by
the College.
The College is supportive of a scheme which would ensure the operation of a national laboratory
warehouse and/or laboratory repository (p10). Test results could be coded and organised by the
patient's NHI number for national consistency and clarity, regardless of which laboratory
performed the testing, or whether it was ordered by a GP or specialist physician. As New
Zealand's population becomes increasingly mobile, people are likely to change District Health
Boards (DHBs) - in centres such as Auckland and Wellington, moving house across the region
can necessitate a change in DHB. If all laboratory test results werecompiled in one online
repository, information could be held and accessed independent of region, and mitigate any
regional variation or access issues.
The College recommends all test results for a patient are available to their specialists and the
patient's own GP, allowing for all results to be viewed side by side. This not only contributes to
an overall understanding of what diagnostic testing has been undertaken; it reduces the potential
for unnecessary (repeat or duplicate) testing procedures being ordered.
Alternative models for the delivery of laboratory services in New Zealand
The College is concerned that the NHC did not consider any alternative models of delivery
for laboratory services in New Zealand, particularly in light of the re-organisation of diagnostic
laboratory services in Auckland and the potential for the Wellington region to
1
Royal College of Pathologists of Australasia (2006) New Zealand Pathology Workforce Fact File. Sydney: Royal
College of Pathologists of Australasia . Available from http://www.rc pa.edu.au/Libra ry/Fa ct - Sheets/Fact - Files
2
Immigration New Zealand (2014) Long Term Skills Shortage List INZ 1093. W ellington : Ministry of Business,
Innovation and Employment. Available from http://www.skillshortages.imm igration .govt .nz
3
Association of Salaried Medical Specialists (2014) Proposed privatisation of hospital laboratories : weighing the
risks of unintended consequences Health Dialogue 10(November). Available from
http://www .asms .org. nz/publicatio ns/health -dialogue
2
undergo a similar process4 5 . Rather than objectively assessing the various delivery options
for community and hospital laboratory testing, the document assumes that the current 'quasicompetitive' model of tendering will be continued in to the future . While a number of issues
in regards to the current state of laboratory services in NZ are referred to (p14), the College
has real concerns that the NZ community laboratory landscape is now being increasingly
dominated by a single provider, viz. Southern Community Laboratories/Healthscope .
Overview of Imaging in New Zealand
The College considers medical imaging to be an essential support service , aiding in
diagnostics and contributing to clinical decision-making processes. Moreover, the College
would like to stress that imaging is not seen in isolation; rather it needs to be considered as
an integral part of clinical pathways to ensure appropriate use of resources.
2. Organisation of imaging in New Zealand
The College is concerned by a growing inequity of access to imaging services across New
Zealand DHBs, particularly in rural and regional areas. The College recommends imaging
services are extended to improve after-hours capability nationally e.g. by teleradiology,
improving access in the regions and potentially improving outcomes - for example, in the
case of injury.
2.3 Information systems
The College strongly recommends investment in a nationally coordinated, accessible digital
repository for diagnostic imaging, similar to the laboratory warehouse/repository outlined
above. Patient's images would be ordered according to NHI number. A system of this
capacity would further enable the development of teleradiology, whereby specialists can
access expert image interpretation and consultation despite geographic distances .
A digital repository of images would have many of the potential benefits noted in the example
of the laboratory repository , particularly in the interface between primary and secondary
care, where GP and specialist (both public and private) can access the same information
and removing the potential for ordering duplicates . The repository would also allow for the
possibility of patient mobility around New Zealand and across DHB boundaries .
3. Emerging technologies
The College is supportive of the NHC exploring the application of imaging technologies for
broader clinical use, for example at point of care. The College's members noted that imaging
technologies are increasingly employed at bedside/point of care, particularly in emergency
medicine, cardiology and respiratory medicine. As imaging technology develops , there will be
increasing opportunities for point of care use in the future e.g. the portable ultrasound is
rapidly becoming to the modern acute physician, what the stethoscope was to their forebears
. How medical practitioners are credentialed in their use, how results are documented and
how any images are stored requires a different approach to that applied to/by traditional
organ imaging services .
How new technologies are introduced and maintained is of increasing concern , particularly in
terms of any discrepancies between public and private hospitals, and the College
recommends standards are developed to ensure new technologies are implemented
appropriately .
4
Ratcliffe L. (2009) Positive steps in lab saga, but not enough NZ Doctor 21 October . Available from
htt p://www .nzdoct o r.co. nz/i n- print/20 09/o ctober-2009/21- octob er-2009/ positiv e- step- in- la b-saga ,- but- noteno ugh.as px
5
Castaneda R (2015) Closed-door talks on future of Wellington labs leave docs sidelined . Available from
http://www .nzdoct o r .eo.nz/ new s/20 15/ j a nua ry-2015/29/close d- door -ta lks-o n-future-of-w ellingt o n- la bs--leav esdocs-s ide lined .aspx
In summary the College recognises the significant contribution made by professionals working
in laboratory services and imaging in New Zealand and how the diagnostic and testing
operations provided by these sectors form key components of an integrated health care system.
The College thanks the NHC for the opportunity to comment on these two overviews , and looks
forward to developments in areas so integral to patient diagnosis , management and care.
Yours sincerely
Associate Professor Mark Lane MBChB FRACP
RACP New Zealand President
The Royal Australasian College of Physicians