Warnyta Minnaard lost her partner, Hederik, to Cancer of Unknown Primary (CUP). Heartbreak inspired her to spearhead a campaign for the reimbursement of whole genome sequencing in the Netherlands so that others might be spared the same fate
Hederik was just 32 when he became ill three years ago. It began with a drooping eyelid and prompted him to go to hospital in search of answers. Doctors were able to confirm after several months that he had cancer, but could not determine where it began. This matters because diagnosis informs treatment.
‘Unfortunately, he passed away in early January 2019 and I became a widow at age 29,’ Warnyta recalled. ‘Even though he was severely ill, we had no idea he was going to die as we were in the midst of an ongoing diagnostic trajectory that already took seven months.’
Hederik was one of about 1,500 Dutch people each year who are diagnosed with Cancer of Unknown Primary (CUP). For patients with CUP – an advanced/metastatic form of cancer which affects at least two areas of the body – time is of the essence. However, lack of access to cutting-edge diagnostics is a barrier to diagnosis and effective treatment which could prolong and improve lives.
The advent of whole genome sequencing (WGS) of tumours promises to transform cancer care, making it more personalized and more effective. Instead of treating cancer based on where in the body it began, doctors would select a treatment based on the genetic characteristics of the tumour.
Warnyta co-founded Missie Tumor Onbekend, a patient support and advocacy organization for patients with CUP in the Netherlands. The charity advocates for a specialized diagnostic and improved care pathways for CUP patients, better access to innovative diagnostics, and better treatment. The organization also offers support to patients, clinical research and awareness raising campaigns.
Legislators in the Dutch Parliament had been working on personalized medicine for some time in an attempt to update health insurance rules to keep pace with rapid advances in medical science. Warnyta and colleagues saw an opportunity to ensure that the interests of CUP patients were reflected in any legislation agreed by policymakers.
Following a series of events to engage with experts and members of Parliament and key decision-makers, Missie Tumor Onbekend and a team of clinical experts helped to secure a significant amendment to proposed legislation which has now come into force.
Petur Snaebjornsson, a clinical pathologist at the Netherlands Cancer Institute, helped to make the case to policymakers by explaining the technology and sharing early data from a large study. He argues that WGS is better than routine DNA testing which can sometimes leave out rare but relevant biomarkers.
‘WGS offers two main advantages. Firstly, in this all-in-one DNA test you can detect all genetic biomarkers that are used to guide so-called targeted treatment or immunotherapy, which are new types of cancer treatment compared to chemotherapy,’ he said.
‘Secondly, WGS can be used to predict the location of the primary tumour. Finding the primary tumour location is of importance because it guides the choice of chemotherapy. So WGS represents a win-win test for patients with cancer of unknown primary.’
In February 2021, the Parliament unanimously added extensive DNA-testing to the basic package of care that must be covered by private health insurers as part of their mandatory offering available to each citizen in the country. This led to WGS being reimbursed for CUP patients from 24 April 2021.
Petur said the campaign and subsequent changes to reimbursement rules have increased awareness of CUP, raised the profile of patient advocates, and prompted the establishment of a Dutch expert platform called CUPP-NL. ‘The platform aims to raise awareness and collaboration, pool current knowledge, stimulate research and improve diagnostics and treatment options for patients with CUP,’ he added.
It was a remarkable achievement for the small group of activists behind a relatively new advocacy organization. However, campaigners are not yet ready to celebrate as there is still work to do before the new rules have the desired impact. Some patients have reported a slow response to the new rules, with families struggling to access the testing they need.
Petur said performing WGS early in the diagnostic process is vital to improving outcomes. Some hospitals have opened CUP clinics and access would improve if more hospitals followed this example.
For Warnyta, this cannot come quickly enough: action must follow the policy shift announced in April. ‘We are now strong on policy but the coordination to reflect the policy change in care pathways is still missing at a central level. In specific parts of the country, hospitals are now taking a coordinator role for patients in their catchment areas but access needs to be arranged at a country-wide level so that it does not matter where you live,’ she said.
This is a source of deep frustration and sadness for campaigners and people living with CUP. As time ticks on, lives are lost. And that motivates Warnyta and other CUP patient advocates to continue to strive for more awareness and support for CUP.
World CUP Awareness Week runs from 20-26 September 2021