ABSTRACT
This viewpoint explores the current state of cancer genetics care in Aotearoa and how appropriate resourcing could lead to improved outcomes in individuals with an underlying cancer predisposition. There is increasing demand for genetic results at the point at which they may have a clinical impact in patients diagnosed with cancer, highlighting the need for improved access to genetic testing. For those cancers that are heritable, genetic test results can also inform appropriate management for at-risk relatives, including screening, risk-reducing surgery and prophylactic medical therapy, leading to an expected decrease in cancer incidence. We explore barriers to cancer genetics care and offer potential solutions to ensure equitable service delivery.
KEYWORDS: Barriers, cancer, culturally appropriate care, future directions, indigenous health, mainstreaming, multidisciplinary, oncology, prevention, treatment
Viewpoint
Appropriate resourcing will allow cancer genetics care to be delivered in an equitable way, improving outcomes for individuals with cancer and those with an underlying genetic risk in Aotearoa.
Introduction
Genetic Health Service New Zealand (GHSNZ) | Ratonga Hauora Iranga Aotearoa is involved in the care of individuals affected with cancer and their whānau, organising diagnostic and predictive germline genetic testing to inform their cancer treatment and preventative strategies.
The identification of a disease-causing variant in a cancer susceptibility gene allows tailored risk management for the individual tested, as well as predictive testing and risk management for relatives. Risk management can include additional screening, risk-reducing surgery and prophylactic medical therapy, leading to a reduction in the overall burden of cancer by reducing the number of cases and allowing earlier detection.
In patients who have been diagnosed with cancer, the identification of an inherited predisposition to cancer can influence the management they are offered, including the type of surgery and choice of medical therapy.
Unfortunately, current GHSNZ resourcing, staffing and demand for our service means that our routine waitlist is approximately 10–15 months. Genetic testing results typically take another two to four months. Urgent appointments and genetic testing turnaround are only available in very specific situations.
There has been increasing demand for our service over the years and, in 2016, our wait list was three to four months. The increase in wait time since then is likely due to a combination of factors including an increased demand for testing and no funding increase since 2017.
We discuss some of the key areas of evolution in cancer genetics in New Zealand including access to genetic testing, mainstreaming, and the need for progress in understanding our genetically-unique population. We also outline some of the barriers to cancer genetics care, as well as potential solutions, which in future could ensure equitable access to genomic medicine for the benefit of all in Aotearoa.
Barriers to genetic care and potential solutions
Barriers to accessing genetic testing include those internal to GHSNZ and external. GHSNZ undertook an internal review in 2023 and provided a series of recommendations in key areas including waitlist management, workforce development, and IT systems, detailed below and in Table 1.
Table 1.
Clinical genetic cancer care in NZ: Barriers and potential solutions.
| Barriers | Solutions underway | Potential solutions & future directions |
|---|---|---|
| Long wait list and increasing demand for initial genetics appointment |
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| Traditional one-to-one in-clinic appointment structure |
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| Inadequate IT infrastructure |
|
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| Perceived and actual genetic discrimination by insurers |
|
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| Lack of genomic testing infrastructure |
|
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| Lack of Māori and Pacifica representation within the genetic counselling workforce |
|
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| Inequitable access to referral to GHSNZ |
|
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| Lack of NZ-specific cost-effectiveness studies to inform care for our unique population |
|
Internal barriers
Wait list management and workforce development
A long wait list can deter individuals and involves a level of clinical risk. Implementation of some recommendations from our internal review regarding waitlist management is underway, including developing clinically safe prioritisation and referral guidelines nationally. However, with increasing referrals, it is not possible to deliver acceptable wait times without additional resourcing.
In New Zealand in 2022, there was 1 genetic counsellor per 315,000 people (Stats NZ 2023). This is less per capita than the number of genetic counsellors in both Australia (1 GC per 59,000–74,000), and the UK (1 GC per 210,000) (Ormond et al. 2024).
Between 2016 and 2024, there has been no increase in permanent genetic counselling FTE (16.4 permanent FTE nationally). However, referrals have increased by approximately 20% (approximately an additional 1000 referrals per year) (figure 1). We note that these numbers include both cancer and non-cancer referrals. We have increased the number of non-contact advice letters to address this increase, but as a measure of our service delivery, the combined number of first-appointments and non-contact advice letters has increased by approximately 17%. Despite this increase in delivery, there is a growing difference between the number of referrals and the number of combined first appointment and non-contact advice provided, illustrating our growing waitlist.
Figure 1.
GHSNZ volume metrics 2016 and 2024.
Lack of adequate IT infrastructure
Investment is needed to establish a national genetic database. This would allow GHSNZ to store, access, share and link patient/whānau genetic and whakapapa information nationally, as well as improving equity through cross-site support and enhanced outreach, managing data in a culturally appropriate way, saving clinician time, and enabling national waitlist and scheduling processes.
Rigid appointment structure is a barrier for culturally-appropriate care
Traditional Western medical appointments are one-to-one and face-to-face. This may be a barrier to families receiving quality and efficient care. GHSNZ has adapted its service to offer group and hui appointments, and offer telehealth (via phone or video).
In the medical setting, a hui is a family meeting with multiple relatives from the extended family/whānau, usually hosted by the whānau at the marae, with invited medical staff. These approaches are offered to meet patient/whānau needs, though they typically require extra time and flexibility in planning and booking.
External barriers
Access to referral to GHSNZ
Longstanding inequities in access to GPs and hospital care has a flow-on effect to access to tertiary care services, such as GHSNZ. Solutions to mitigate health disparities across the health system (including increased delivery of cancer screening and GP visits) would improve equitable access to genetics.
New Zealand-specific cost-effectiveness studies to inform policy
GHSNZ offers genetic testing for hereditary cancer when the likelihood of finding a disease-causing variant is 10% or more (threshold based on overseas cost-effectiveness studies). Recent UK and Australian studies showed cost-effectiveness in offering genetic testing to all breast cancer patients, compared to offering testing only to those who meet current test criteria. This would also lead to improved identification of individuals with a cancer predisposition (Tuffaha et al. 2018; Sun et al. 2019). Whilst it is likely that it would also be cost-beneficial to have more inclusive test criteria in New Zealand, the authors are not aware of New Zealand-specific cost-effectiveness studies to inform policy in this area. Local cost–benefit analyses to inform testing criteria in New Zealand are needed to allow delivery of a cost-effective service.
Genetic discrimination in insurance
In many countries, legal protections prevent genetic discrimination by insurers (Joly et al. 2020). This is not yet the case in NZ and there is evidence that some individuals may decline or defer genetic testing due to concern about insurance discrimination. Legal protection could allay concern, allowing more people to access genetic testing (Fraser et al. 2023). The Contracts of Insurance Act 2024 supports limiting genetic discrimination. This is discussed elsewhere in the current issue by our colleagues (Shelling et al. 2025).
Treatment
Results of genetic testing in individuals with cancer can have a direct impact on treatment, including choice of surgery type and targeted treatment. One example that illustrates this is hereditary breast cancer. Affected women with a causative high-risk variant may choose mastectomy, rather than conservative breast surgery and radiotherapy, following discussion with their care team (Figure 2). As reconstructive surgery is more difficult on irradiated breast tissue, having genetic results before surgery is important. Unfortunately, it is not possible to provide genetic results prior to surgery for many women referred with breast cancer. Increased uptake in mainstreaming would allow more patients to access genetic testing in an appropriate timeframe (see Mainstreaming below).
Figure 2.
Hereditary breast cancer case example.
Increasingly, decisions about medical treatment for cancers (with chemotherapy, hormone therapy and immunotherapy) are also likely to be influenced by knowledge of germline genetic abnormalities. For instance, Poly ADL-ribose polymerase (PARP) inhibitors were originally Pharmac-approved for patients diagnosed with ovarian cancer and with germline BRCA1 or BRCA2 variants, and they are likely to be considered more widely for other tumour types (including breast, prostate and pancreatic cancer) in the future.
Prevention
Turnbull et al. (2018) argue that it makes sense to target the use of cancer prevention resources to a group who is at higher risk of developing cancer.
The family discussed in Figure 2 illustrates how genetic test results can impact cancer prevention. Currently, barriers to genetic care may result in the diagnosis of new cancers that could have been prevented, or diagnosed at an earlier stage.
For instance, bilateral risk-reducing mastectomy reduces breast cancer risk by 95% and can be offered to women who are high risk (Rebbeck et al. 2004). Unfortunately, access to reconstruction following risk-reducing mastectomy is variable in New Zealand and some patients face the choice to either have risk-reducing breast surgery with no reconstruction, or face a significant wait for risk-reducing surgery with immediate reconstruction.
Risk-reducing medications tamoxifen, raloxifene and anastrozole reduce the relative risk of breast cancer by 30–60% in women with a high risk of breast cancer, although access to these medications may be problematic.
Some cancer predisposition genes are associated with other cancer risks. For example, disease-causing variants in BRCA1 and BRCA2 are associated with an increased risk of ovarian cancer and risk-reducing surgery may also be relevant. Bilateral salpingo-oophorectomy reduces ovarian cancer risk to less than a 1% 10-year risk, if no serous tubal intraepithelial carcinoma (STIC) is found (Steenbeek et al. 2022).
Cancer prevention options are not limited to patients with a BRCA1 or BRCA2 variant and prophylactic strategies result in cancer risk reduction in patients with germline variants in other cancer predisposition genes. Prophylactic strategies currently available include:
Surveillance: e.g. colonoscopy in patients with Lynch syndrome (germline pathogenic variants in MLH1/MSH2/MSH6/PMS2)
Surgery: e.g. prophylactic gastrectomy in patients with Hereditary Diffuse Gastric Cancer (germline pathogenic variants in CDH1)
Reproductive options (e.g. prenatal diagnosis or pre-implantation genetic testing for monogenic disorders) are potentially available for families with a known cancer predisposition.
The results from numerous international chemoprevention trials are also likely to inform future strategies for cancer prevention in patients with cancer predisposition syndromes, particularly in reducing risk of breast or colorectal cancers.
Gene therapy and vaccinations are also likely to become important cancer prevention tools in highly personalised medicine in the future.
Mainstreaming
The demand for genetic testing is ever-increasing. With no increase in funding since 2017 and an increasing waitlist, patients requiring urgent treatment-related testing may not receive results in the time frame needed. In many cases, where there is a clear indication for genetic testing and rapid results are required, diagnostic testing can be arranged by other clinicians involved in patient care (George et al. 2016). This is known as mainstreaming.
In the context of cancer genetics, mainstreaming refers to genetic testing of patients with cancer performed by the oncology team, with support as required from clinical genetics. This model of delivery is highly acceptable to patients, when reassured that a genetics follow-up pathway for family exists (Hallowell et al. 2019).
The establishment of a nationally coordinated mainstreaming approach has many benefits. An increase in testing through improved access will identify more at-risk families for targeted preventative strategies (Hamilton et al. 2021). Testing at the point of diagnosis avoids a separate referral to genetics, saving time and appointment-related costs (Bokkers et al. 2022). Results that inform time-critical chemotherapy and/or surgical decisions are obtained early in the patient’s treatment.
Mainstreaming for ovarian cancer patients was established in Auckland in 2018 following a pilot project in that region. A specific Pharmac-funded PARP inhibitor treatment became available for individuals with a BRCA1 or BRCA2 pathogenic variant in August 2022 and a nationally-equitable approach was required to ensure all patients could access rapid treatment-related testing. GHSNZ has been instrumental in the roll-out of mainstreaming for ovarian cancer throughout Aotearoa by establishing a nationally-consistent process. The process ensures that non-genetics providers know which patients to test, what test to order, the nuances of consenting for genetic testing, how to correctly interpret results, and when to seek input from GHSNZ.
A breast cancer mainstreaming pilot is currently underway and we envision that mainstreaming could be extended to all cancer types with potential treatment implications.
Multidisciplinary team meetings
Multidisciplinary team meetings (MDMs) provide mutual learning opportunities for genetics and non-genetics providers, as well as ongoing support for specialist services. MDMs support decision-making when further expertise is required. This model works successfully for other specialties in NZ (e.g. neurology, cardiology, renal, endocrinology) and could be provided to support mainstreaming in oncology.
Somatic testing
It is important that GHSNZ continues to work with oncologists who order genomic somatic testing to inform treatment choice. Somatic testing is offered publically for only some cancer types, where there is a Pharmac-funded treatment. Some somatic variants are isolated to the tumour, while some will also be present in the germline. Germline variants can have implications for patients in terms of their own future cancer risks, and also implications for relatives. Somatic testing in the context of treatment decision-making is not ordered by GHSNZ, however, we receive referrals to assess the likelihood that such somatic variants are present in the germline (germline conversion) and will offer germline testing in some situations. GHSNZ leadership is needed on molecular tumour boards in order to determine when an onward referral to GHSNZ is needed, to ensure patients are offered germline testing following somatic testing, when appropriate.
Ancestral inequity of genetic testing
For any patient, genetic tests create a list of genetic variants which must then be evaluated by the laboratory and classified as either pathogenic or benign. A small group of genetic variants will be rare and not classifiable as pathogenic or benign, these are labelled as ‘variants of uncertain significance’ (VUS).
Most VUS are reclassified as benign over time as more evidence becomes available, but some will eventually be reclassified as pathogenic (Chen et al. 2023). For patients, identification of a VUS is not helpful as this type of result typically should not be used to guide cancer risk management or screening, and generally cannot be used to predict who within the family is at higher genetic risk for cancer. It also creates risk for overtreatment – there are several documented cases internationally where non-genetic clinicians ‘over interpret’ a VUS and may recommend a patient have ‘risk-reducing’ surgery for a variant which is later classified as benign (Farmer et al. 2021).
Unfortunately, reference genetic databases over represent European and East Asian populations, meaning VUS are significantly more likely to occur in non-European and especially indigenous populations (Appelbaum et al. 2022; Cook et al. 2023). VUS are identified more commonly in Māori and Pacific people accessing genetic testing than in Pākehā (Earle et al. 2024). There is a risk of compounding the ‘genomic divide’, without careful work to address ancestral inequity.
He Kākano: Aotearoa New Zealand Variome project
A Genomics Aotearoa initiative has been created with the aim of reaching towards equity in the research and practice of precision medicine. In particular, the Aotearoa Human Variome project has been carefully co-developed by university researchers and Māori leaders, with the aim of cataloguing genetic variation in a diverse group of 1000 healthy Māori participants. A leadership roopu provides oversight and governance of data; access is carefully controlled. When access is permitted, data can have immediate clinical use, as a specific VUS identified in a patient can be queried and the frequency of that variant within the dataset may be sufficient to reclassify the variant as benign. The project is considered world leading in indigenous design, leadership and governance of a genomic variation dataset (Caron et al. 2020).
Future directions
Appropriate resourcing and the implementation of other proposed solutions (Table 1) would allow our service to see patients eligible for genetic testing in a timeframe that would be optimal for their cancer treatment or cancer-risk management, leading to improved patient outcomes, improved equity and a reduction in cancer diagnosis and overall disease burden in Aotearoa.
GHSNZ would play a supportive role in the implementation and oversight of mainstreaming and this would result in oncologists ordering diagnostic testing for their patients so results could be used for treatment decision-making. As a result of mainstreaming, there would be an increased number of diagnostic tests ordered nationally and, as a result, more at-risk family members would be identified. GHSNZ would offer more predictive tests to at-risk family members and this would lead to a reduction in cancer diagnosis and death. It is important to note that this would likely lead to an increase in demand for downstream specialist services, and increased resource allocation would be essential for these services to ensure patients have access to the recommended risk management.
Outside of our patient-facing role, we would like to be able to offer more support for other services, such as at multidisciplinary meetings. More time would be available to provide advice for supporting our colleagues ordering treatment-related genetic testing (e.g. somatic testing and pharmacogenomic testing). Pharmacogenomic testing is not currently funded in New Zealand, and it is our view that this testing would be ordered by the treating oncologist. However, GHSNZ would be in a position to provide guidance on the implementation of this.
In the future, if polygenic risk scores become ready for widespread clinical use, GHSNZ could lead their introduction, enabling highly personalised cancer risk stratification for our population. This would mean an increase in identifying individuals at high genetic risk for cancer. However, accurate risk-stratification would also allow many individuals to safely reduce their screening, with a benefit to both the individual and the specialist services that could be allocated to those who are at higher risk.
Conclusion
Cancer genetics services are instrumental in the prevention and treatment of cancer in Aotearoa. Additional resourcing will ensure our health system is able to deliver cancer genomic healthcare to all who need it. GHSNZ is well placed to lead further integration of genomics into oncology care, which would improve outcomes for those with cancer and reduce cancer incidence in those with an increased genetic risk.
Acknowledgements
The authors would like to acknowledge the support of their colleagues at GHSNZ, including the clinical geneticists, genetic counsellors, genetic counselling assistants, and administrative support, who are passionate in their commitment to providing a high quality genetic service.
Disclosure statement
The NZ Genetic Health Service has received financial support from Astra Zeneca to provide a parallel ovarian rapid treatment related clinic, as mainstreaming is established nationally for women with ovarian cancer.
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