The Coalition for Rare Diseases (the Coalition) thanks you for the opportunity to provide input to the Ministry's work on the National Health and Coordination Plan. We would like to draw the Ministry's attention to the following elements that we believe should be given particular focus in the work on the new plan:
- Further develop early diagnosis systems
- Maintaining and further developing the competence services
- Implementation of a national rare registry and coding system
- Developing solidarity-based financing solutions for the treatment of rare diagnoses
Rare diagnoses
A rare diagnosis is usually congenital, hereditary and complex. In around 80% of cases, the condition can be explained by a change in the genes. A condition that affects 1 in 2000 is now considered rare, and recent estimates have shown that there are between 190 000 and 320 000 people with a rare diagnosis living in Norway today.
The diseases are often very serious, complex and resource-intensive. Symptoms can appear immediately after birth, but can also appear without warning later in life. Only a few of the known rare diagnoses can be treated with medication, and often the underlying condition cannot be treated. The symptoms must then be prevented, limited or treated to improve the patient's life and quality of life.
A recent report published by Menon Economics[1] has mapped the social costs associated with rare diagnoses. The report shows that for rare diseases, the patients and their families bear the bulk of the socio-economic burden, while in other disease areas the burden falls primarily on the health care system. Thus, although the total societal costs are very high, the burden of rare diseases is distributed differently than is usual for major disease groups.
Early diagnosis
Early diagnosis and prompt follow-up are important if you are born with a rare disease. Newborn screening is offered to all newborns, and 27 different congenital and serious diseases are currently screened for. The Norwegian screening programme is of very high coverage and quality, also in an international context, and quickly detects the conditions included in the programme.
The criteria for when to screen for a disease are well established and widely agreed. The key is to be able to treat the conditions being screened for. Today, it is possible to treat more diagnoses than are screened for in the newborn screening programme, and with more new gene therapies coming in, it will be possible to expand the programme significantly within a few years.
However, there is still room for improvement. At present, it is unclear who is responsible for initiating and deciding whether to include new conditions in the programme. One of the reasons, in the Coalition's view, is that the division of roles between the many actors involved is not sufficiently clear.
The consequences of unclear roles and lack of a strategy for newborn screening are that the implementation of new diagnoses in the programme takes longer than necessary. This in turn delays further diagnosis, treatment and other follow-up. This is of great importance for the individual patient, their relatives and, not least, for society.
The coalition therefore asks the government to set guidelines and goals for how to develop the newborn screening programme in the upcoming work on the Health and Social Care Plan.
Maintaining and further developing the Competence Service
A major study of the national competence services has been underway for some time. One of the recommendations made in this work was that in most cases there should be a transition from a competence service model to a network model.
The National Advisory Service for Rare Disorders (NKSD) was not part of the initial study, but work is currently underway to look at how the service should be organised in the future. The coalition believes that the aforementioned Menon report shows the great need for a competence service, also in the future, that can continue to support individuals with a rare disease and their families.
We fear that a network model in this area will result in a greater degree of fragmentation of the already very small communities of expertise. Such a loss of expertise would result in weakened habilitation services for the rare disease groups, which in turn would increase the burden on an already vulnerable group.
We therefore call on the Government to draw up a long-term plan on how to ensure that the competence environments are strengthened in the health service. It will also be important that a system is set up to measure the consequences of any changes to the organisational model for the competence service.
Implementation: national rare register and associated codes
One of the follow-up points in the National Strategy for Rare Diagnoses was that the Directorate of eHealth and the regional health authorities (RHFs) should jointly investigate the establishment of a national register for rare diagnoses and the implementation of a coding system in the specialist health service better adapted to rare diagnoses. These tasks were set out in the mission documents for 2022, and the Coalition eagerly awaits the conclusion of this work.
The Coalition believes that the knowledge we now have in this area clearly underlines the importance of continued focus and investment in structures and frameworks for rare diagnoses in the years to come.
We ask that the work on this plan will provide an even better framework for how the authorities and other stakeholders can work together to fill the many (and known) knowledge gaps in this area. The national implementation of a register for rare diagnoses, and a common coding system adapted to rare diagnoses for the entire health service, will be an important first step towards being able to follow patients from the time they are diagnosed via treatment and (re)habilitation in the health service to follow-up in their home municipality.
Development of existing financing solutions is needed
For several years, the Coalition for Rare Diagnoses has been an advocate for national funding of the field of rare diagnoses. In the National Health and Hospital Plan for 2020-2023, it was pointed out that the Ministry wanted to look at new funding schemes for the specialist health service where the focus would be more on "what you treat" rather than "how you treat". However, we have not noted that these ambitions have been followed up in the planning period. Solidarity-based funding schemes are an important tool for achieving good coordination around the patient. We therefore hope that the Ministry will follow up on this thinking when developing the next plan.
For rare diagnoses, where most of the costs are incurred outside of specialist care, it would be appropriate to look at the relationship between inputs used within specialist care, particularly related to medical care, and how this affects total costs in primary care.
As an extension of this, we call for special attention to be paid to how to ensure comprehensive funding for rare diseases that ensures equal access to medical care regardless of the patient's geographical location and where in the health service the costs are incurred.
Need for continued significant policy focus on rare diseases
In conclusion, the Coalition welcomes the upcoming process and wishes the Government good luck with the further work on the National Health and Care Coordination Plan. We hope that the work will be seen in the context of related work, such as the updated strategy for personalised medicine and the announced Prioritisation Report. It is crucial for patients that rare diagnoses are seen in a holistic system perspective, and it will therefore be important that this planning work also devotes considerable attention to rare diagnoses.
[1] https://www.menon.no/wp-content/uploads/2022-28-Samfunnskostnader-knyttet-til-sjeldne-diagnoser.pdf