Sundhedsudvalget 2022-23 (2. samling)
SUU Alm.del Bilag 82
Offentligt
2663020_0001.png
President of Eurordis Terkel Andersen
presented the necessity of patient
empowerment and recommendations
on specific mechanisms that can
empower people with rare diseases.
Launch of the Nordic Roadmap
On the 13th of April 2021 the Nordic Roadmap for Rare Diseases was launched to ensure a lasting
legacy of the Nordic Rare Disease Summit held on the 12-13th of April 2021 with a common
aspiration to elevate rare diseases as a national health priority in the Nordic countries.
The Roadmap is the culmination of 2 days
of knowledge sharing and debating be-
tween rare disease experts, decision- and
policymakers as well as representatives
from NGO’s, patient organizations, aca-
demia, and industry from across the Nor-
dic countries. The sessions were followed
virtually by more than 480 people across
the Nordics and beyond in an engaging
manner with inputs and live chat between
people connected across borders.
The Summit revolved around 3 pre-
identified themes: Diagnostic Delay, Pa-
tient Empowerment and Patients Access
to Innovative Treatment.
Each theme included presentations that
highlighted challenges, solutions and re-
commendations for the future which ex-
perts on the topic discussed thoroughly.
dis - Rare Diseases Europe, Microsoft
and Takeda with the purpose of short-
ening the diagnostic journey for children
with rare diseases. To accomplish this,
the Global Commission has launched
initiatives that combine recent break-
through diagnostics with state-of-the-
art AI capability.
”The Global Commis-
sion is committed to harnessing the
power of technology and empowering
families to accelerate the time to diag-
nose a child with a rare disease,”
stated
Clifford Goldsmith.
Major steps forward in shortening the
diagnostic journey of people with rare
diseases have been taken in some coun-
tries. For instance, Iceland has recent-
ly taken a major stride towards using
whole genome sequencing to diag-
nose more people with rare diseases. MD
PhD, Associate professor Hans Tómas
Björnsson elaborated:
”We have made
major strides by collaborating with De-
code Genetics who have been doing pro
bono whole genome sequencing. This
has enabled us to diagnose many more
people and it also increased the access to
genetic services for people across Iceland”.
In Denmark, considerable advances has
also been made, especially a promising
project from Copenhagen University Hos-
pital is worth mentioning. At the hospital
320 acutely ill babies were screened for
more than 2000 genes using whole ge-
nome sequencing. With a diagnostic rate
of about 30% and many of the diagnoses
being treatable, the project was a major
success. Projects like this could hopefully
also pave the way for a more systematic
use of whole genome screening in the
national neonatal screening program.
”We have several efforts that goes in the
same direction. An example could be our
screening service for acutely ill infants,
where we use whole genome sequencing
to screen for 2000 genes. We are un-
covering diagnoses we have never seen
before,”
explained Chief Physician Allan
Meldgaard Lund.
Early diagnosis is key
Among experts it became clear that no
matter which disease you may have, a
diagnosis is crucial for the patient and the
possibility to offer treatment.
”Without
the correct diagnosis, the health and wel-
lbeing of persons living with a rare disea-
se and their relatives will be severely im-
pacted,”
underlined Maria Montefusco,
Chair, Rare Diseases Sweden.
US Chief Medical Officer at Microsoft, Clif-
ford Goldsmith, presented the different
initiatives launched by the Global Com-
mission. New ways of diagnosing rare
diseases are evolving. The Global Commis-
sion is a collaboration between Euror-
The summit is officially
endorsed by EFPIA – The
European Federation of
Pharmaceutical Industries and
Associations, EUCOPE
– the European Confederation of
Pharmaceutical Entrepreneurs,
The Danish Haemophilia Society
(Bløderforeningen) and IML
– Innovative Smaller Life
science companies.
The summit was
organized by Takeda
and hosted in collaboration
with Rare Diseases Denmark
(Sjældne Diagnoser).
Eurordis, SBONN and Lif
joined as partners
 SUU, Alm.del - 2022-23 (2. samling) - Bilag 82: Invitation til Nordic Rare Disease Summit 2023.
2663020_0002.png
Allan Meldgaard Lund especially high-
lighted the National Genome Center that
is a part of the personalized medicine stra-
tegy being implemented in Denmark. The
center is part of the Ministry of Health,
responsible for developing and leading
the Danish national infrastructure for per-
sonalized medicine. The main infrastruc-
ture consists of a national whole genome
sequencing center and a national high
performance computing center.
These are just a couple of the highly pro-
mising projects that are being carried out
in some of the Nordic countries. However,
there is still much work to be done. Whole
genome sequencing is at the cutting edge
of diagnostics, and it will take time to dis-
seminate knowledge about new capabili-
ties throughout the healthcare system and
the public.
”Education is key, both for the
general public and for healthcare provi-
ders so they are aware of the capabilities
of modern diagnostics,”
stated Prof. (em.)
Arvid Heiberg.
pants with rare diseases:
”Patients with
rare diseases had good experiences with
the course ”Rare among”.
It helped all
participants achieve their goals of im-
proved physical and mental health and
self-esteem,” said Sinikka Hiekkala.
At the societal level, President of Rare Di-
seases Denmark, Birthe Byskov Holm, pre-
sented Rare Diseases Denmark’s Helpline
to empower people living with a rare di-
sease and their relatives. The helpline also
contributes to capacity building, creating
and sharing knowledge:
”Knowledge of
rare diseases and how to live with them
are very scarce. Rare people are impor-
tant stakeholders in the rare knowledge
landscape,”
said Birthe Byskov Holm.
At the policy level, Founder and President
of the Wilhelm Foundation, Helene Ce-
derroth, painted a picture of the absolute
necessity of national strategies to help
people with undiagnosed diseases re-
ceive equal opportunities:
”Don’t forget
the undiagnosed patients, they need all
of us, we all have to collaborate to help
them,”
Helene Cederroth stated.
Based on nine principles for value as-
sessment and funding processes in rare
diseases developed by the European
Working Group ORPH-VAL, the UK con-
sultancy DOLON performed an in-depth
review in 2018 and updates in 2020 and
2021. This analysis identified three com-
mon areas for potential improvement.
1.
Value assessment processes should
consider all Rare Disease Therapies
(RDT) specificities in a consisten way.
2.
More consistent disease-specific
expertise should be incorporated in
current processes.
3.
RDT assessment processes should be
adaptive and subject to the need and
availability of information over time.
Empowerment is key for the
wellbeing of the rare patient
All participants agreed that diagnostics
are of high importance for the rare dis-
ease patient. However, improved diag-
nostics cannot stand alone since this is
only the beginning of the patient journey.
Patients are the true experts on living
with their disease, and empowerment is
of outmost importance on many levels.
President of Eurordis Terkel Andersen
presented the necessity of patient em-
powerment and Eurordis recommen-
dations on specific mechanisms that
can empower people with rare diseases.
”The World Bank has defined empow-
erment as the process of increasing the
capacity of individuals or groups to make
choices and to transform those choices
into desired actions and outcomes,”
said
Terkel Andersen.
Empowerment can be increased at
several levels. At the Summit, empower-
ment at patient, societal and policy level
was explored.
At the patient level, Research Director
at The Finnish Association of People
with Physical Disabilities, Sinikka Hiek-
kala, presented research about how web-
based adaptation training had signifi-
cantly impacted the lives of the partici-
Diagnostics and empowerment
can only take us some of the way
Currently, many people with rare disea-
ses face prolonged access to treatment
– if any treatment exists at all. This is cau-
sed by both the sheer number of rare di-
seases, but also because of inadequacies
in the current fragmented evaluation pro-
cess and nonaligned common method-
ologies.
”We are at the stone age regar-
ding patient representation in HTA scien-
tific dialogue and assessments in Europe,
it’s very diverse and there are agencies
where it simply doesn’t exist,”
said Yann
Le Cam, Chief Executive Officer, Eurordis.
The problems with access to treatment
are systematic and is often the result of
distrust between payers and industry.
The systems need to change if we want
to improve access to treatment for peo-
ple with rare diseases. MP Lina Nordquist
elaborated:
”No matter how hard we try,
there will always be patients that have
difficulties in getting their voice heard. I
think we need to secure the system and
for instance in quality registries we need
to make sure to ask what is important to
every single person included”.
A particular hindrance to the access
to treatment for patients with rare dis-
eases is the affordability issues of orphan
drugs. Part of the issue stems from sub-
national financing, especially financing at
the hospital level, which can be a signi-
ficant obstacle. Financing of orphan dis-
eases at national level could help improve
affordability issues.
”Subnational decision
making has fostered inequality in access
to treatment in some countries, so we
definitely support national processes,”
said Giles Platford, President Europe and
Canada Business Unit, Takeda.
The Nordic Roadmap will pave
the way forward
The Summit highlighted that we face the
same challenges across the Nordics. The
strong tradition for working together is a
great strength and will be a key factor in
improving the lives of people living with
rare diseases. With the Nordic Roadmap
as a framework, we can build new ambiti-
ous national and supranational strategies.
”When it comes to rare diseases, Nordic
cooperation is so obvious and it is hard
to understand why we do not cooperate
even more. When the disease is rare the
number of patients, scientists, doctors,
nurses and professionals with the newest
knowledge are few. This calls for special-
ization and more collaboration than we
have ever had before.”
said Bertel Haar-
der, President of The Nordic Council, (MP)
and former Danish Minister of Health.
Only with national strategies and cross-
country cooperation – supported by the
necessary political and economic ambi-
tion - can we make lasting progress within
rare diseases:
”All the themes go together;
with better empowerment, we get better
diagnostics and access,”
concluded CEO
Lene Jensen, Rare Diseases Denmark, and
encouraged the participants to elevate the
rare disease agenda whenever possible.
Pasi Nevalainen, Head of Rare Diseases Unit, Tampere University Hospital, Nicklas Sandström, Moderate Party,
Prof. (em) Arvid Heiberg, Department of Medical Genetics, Oslo University Hospital, and CEO Lene Jensen, Rare
Diseases Denmark, reflected on the Nordic Roadmap for Rare Diseases and discussed priorities for the future in
one of the many virtual debates at the summit.
NORDIC
RARE DISEASE
SUMMIT
2021