Health in a post-pandemic EU

HEALTH IN A POST-PANDEMIC EU
More diagnosis will lead to
more research and overall
improving outcomes for so
many rare disease patients that
don’t have a treatment, that
don’t have a care path
Nicolas Garnier
A new approach
Now, a European collaborative is working
to detect rare diseases earlier through
a two-pronged strategy called Screen-
4Care.
The first arm involves deploying widespread
newborn genetic testing to identify
babies who may develop rare diseases,
72 percent of which have genetic origins.
The second prong is to use artificial intelligence
(AI) to create a meta-symptom
checker for patients struggling to understand
their complications, and to flag
patients at risk for rare diseases based on
their electronic health records.
The five-year, €25 million project
launched in late 2021 and has about three
dozen academic, government and industry
partners across 14 countries. Governed
in part by patient advocacy groups,
housed by the Innovative Medicines Initiative
and funded by the EU and the European
Federation of Pharmaceutical Industries
and Associations, Screen4Care
aims to create a framework for rare disease
detection that can be adapted across
the bloc and beyond.
The goal is
to deliver
“trained
and tested”
algorithms
that can
flag at-risk
patients
based on
their medical
records
before the
project wraps
in 2026.
“More diagnosis will lead to more research
and overall improving outcomes
for so many rare disease patients that
don’t have a treatment, that don’t have a
care path,” said Nicolas Garnier, patient
advocacy lead for rare diseases at the
pharmaceutical giant Pfizer and Screen-
4Care’s EFPIA project lead.
After a couple of years in the planning
and development phase, the group is preparing
to launch five clinical trials early
next year to test the newborn screening
tool in Germany and Italy.
Heel prick 2.0
Newborn genetic testing is a tried-andtrue
public health tool – the heel prick
test has been practiced since the 1960s
– but the Screen4Care trials will look for
several hundred rare diseases, aiming to
make newborn genetic screening cheaper
and thus more broadly accessible.
Meanwhile, the consortium is rethinking
its second prong, which focuses on
AI and machine learning, given the explosive
growth of generative AI tools in
2023. The Screen4Care initiative was initially
dreamt up in mid-2019, and Garnier
said he wants to “future-proof” the
AI tools to prevent them from becoming
obsolete as that technology evolves. The
goal is to deliver “trained and tested”
algorithms that can flag at-risk patients
based on their medical records before the
project wraps in 2026.
At that time, Garnier said the consortium
will present EU policymakers with
a list of recommendations to expand on
its work. One key policy area is equity,
given gaps in rare disease detection are
stark even within Europe. As of 2022, Italy
screened newborns for more than 45
diseases, for example, while France tested
for fewer than ten and Romania and
Cyprus looked for only two diseases in
their national programs.
“Even right now, with similar technologies
available across different countries,
the adoption is really different,” Garnier
said.
That’s due largely to public policy. The
logic follows that if a disease isn’t treatable,
don’t screen for it, Garnier said. But
he wants these conditions to be identified
anyway, to better understand the
size of the patient population for specific
rare diseases and to incentivise drug
companies to invest in research and development
to treat them.
Equitable detection
Over time, regional disparities could
become even more apparent across the
globe. Within ten years, Garnier said that
widespread genetic newborn screening
will likely be commonplace in the EU and
the U.S., but that some countries could
fall behind due to a lack of resources.
The Screen4Care program is internationally
adaptable, Garnier said, but its
long-term success will depend on policy
efforts to prioritise rare disease diagnosis
– the first step toward widespread access
to treatments for the millions of people
globally living with rare diseases.
“Science and innovation are going to
move a lot faster than policy – that’s not
new,” Garnier said. “The limiting factor
is really going to be policy. That will be
the challenge, and that will be the deciding
factor for what rare disease diagnosis
looks like in 2033.” •
About
Gaby Galvin
Gaby Galvin is a freelance journalist
based in Amsterdam. Her work
has appeared in Euronews, U.S.
News & World Report and Healthcare
Brew, among others.
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