National Health committee paper on diagnostics overview

22 May 2015

There is considerable momentum world-wide to incorporate new genomic data and technology into improved healthcare. The potential to improve early and accurate diagnosis is a particularly promising opportunity. But work is needed to determine the best systems and technology to ensure we capture these opportunities well. Capacity to interpret the data and convey it in an appropriate clinical setting is also a big challenge.

In March 2015 the National Health Committee released a discussion paper on diagnostics, including sections on genomics, screening, laboratory services and imaging. Here is NZORD’s submission:

To the National Health Committee,

Submission on Diagnostics Overview papers on Genomics, Screening, Laboratory Services and Imaging

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. 


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 wide-reaching 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.

· 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. 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.

· 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.


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