The Coalition for Rare Diseases (the Coalition) refers to the Storting's website and the invitation to participate in the hearing on Prop. 1S (2023-2024) for the budget year 2024 under the Ministry of Health and Care Services. In this consultation response, the Coalition requests that the Health and Care Committee:
- Ensures a funding model that addresses known challenges for people living with a rare diagnosis.
- Follow up that rare diagnoses are taken into account in the announced prioritization report.
- Follows up on the National Strategy for Rare Diagnoses
Funding scheme that ensures equal access to treatment
Today, people living with rare diseases may experience that similar cases are treated differently depending on where they live in the country due to the financial situation of the health trust or the individual clinic depending on the funding model of the RHAs. The same people also experience more difficult access to drug treatment than if they had belonged to a larger patient group.
The fixed costs of development, distribution and follow-up are largely the same for small and large patient groups. The current premise of the lowest possible price for financing drugs for rare diseases is not sustainable and means that Norwegian citizens are the silent losers. It is not reasonable that patients should feel that they are not allowed to participate in society because they were given a lottery ticket in life where they belong to a small group with genetic mutations. One wonders whether the committee would have accepted the same treatment for patients with cancer or diabetes, for example.
The coalition therefore asks the committee to ensure in the upcoming national health and interaction plan that a sustainable funding model for the treatment of rare diseases is developed that ensures equal access for Norwegian citizens living with rare diseases.
The prioritization report must ensure equal treatment of rare diagnoses
In 2019, the majority of the Storting called for the system for new methods to be evaluated on the basis of "the challenge seen in connection with the introduction of new methods for rare diseases and other small patient groups, and believes that the decision-making processes must take these into account to a greater extent".
The final evaluation from PROBA Analyse was handed over to the government in 2021, and pointed out that "It is primarily challenges related to personalized medicine, advanced therapies and treatments for rare conditions that will make themselves felt" in the future.
After much pressure from the reference group, New Methods has included a strategic goal for rare diagnoses. At the same time, few of the Storting's repeated instructions to take care of rare diagnoses are reflected in the signals given for what to investigate in a new prioritization report.
Access to treatment has deteriorated. The IQVIA W.A.I.T report from 2023[1] shows that Norway has only provided access to 34% of the treatments for rare diseases that were approved by the European Medicines Agency, in contrast, the same report in 2019[2] showed that Norway had provided access to 53% of the same type of drugs. The reports show a decline in both absolute and relative numbers.
None of the expert groups appointed by the Government have been given a mandate to address the treatment of rare diagnoses. It is also unclear to what extent rare diseases will be adequately addressed in the upcoming prioritization report.
It currently takes an average of 5 years to get a rare diagnosis[3], and 50% of people with a rare diagnosis in Europe lack a diagnosis. As of October 2023, the Rare Disease Registry at OUS had 3,200 people in its registry, with an estimated patient group of 320,000 people, there is a large gap to cover in order to get a better overview that can ensure access to treatment, clinical trials and research.
These challenges must be addressed in a new prioritization report. The coalition therefore wants the Health and Care Committee to ensure that rarity is adequately discussed in the upcoming prioritization report.
The strategy for rare diagnoses must be followed up
It is gratifying to read that the National Competence Service for Rare Diagnoses (NKSD) will receive a real growth of 2.7% in this year's state budget. This is an important contribution to strengthening competence building and knowledge dissemination on rare diagnoses.
Nevertheless, as previously mentioned, there is a large group of patients who go for many years without a diagnosis. They also have to wait a long time for equal and appropriate treatment, which is limited due to poor access to research literature[4]. Diagnosis and treatment options are very limited compared to other patient groups of the same size, and will continue to be so despite major and important efforts from the professional community, NKSD and the European reference networks.
In 2022, Helse Sør Øst was tasked with investigating how equal and rapid access to highly specialized assessment, diagnostics and treatment of people with rare diagnoses can best be ensured in the specialist health service. As far as the Coalition can find, this has not yet been acknowledged. The latest update points out that several European projects are underway, including the European Reference Network, which are important pillars of support for equal and rapid access to diagnosis and treatment, but it is important that this does not become a resting place for the specialist health service.
About the Coalition for Rare Diseases
The Coalition for Rare Diseases (the Coalition) works to improve the framework conditions for rare diseases by actively participating in public processes, arranging and attending meetings, and participating in the public debate. In particular, the coalition has worked to secure national funding for rare diseases, an introduction system for new methods that takes into account the unique market mechanisms that play a role in the development of therapies for rare diagnoses, and to put in place a national strategy for rare diagnoses. The coalition currently consists of the biotech companies Amicus, UCB, BioMarin, Chiesi and Sanofi.
[1] https://www.efpia.eu/media/s4qf1eqo/efpia_patient_wait_indicator_final_report.pdf
[2] https://www.efpia.eu/media/554526/patients-wait-indicator-2019.pdf
[3] https://ec.europa.eu/research-and-innovation/en/horizon-magazine/long-journey-rare-disease-diagnosis
[4] https://www.dagensmedisin.no/lik-behandling-forutsetter-lik-tilgang-til-oppdatert-kunnskap/568747