27th Feb 2024


How genetic testing, new tech help in rare disease diagnoses

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For people living with a rare diseases, it can take at least five years to get the right diagnosis — but that timeline could get a lot shorter if a European Union-funded effort succeeds.

Rare diseases affect more than 300 million people worldwide, including more than 30 million in Europe, and delayed diagnoses can make it harder for patients to find relief, given treatments are also scarce. There are more than 6,000 known rare diseases worldwide, yet only 5% have at least one approved treatment.

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In order to be catalogued as a rare disease in the EU, the condition must affect fewer than 1 in 2,000 people. These diseases include forms of neurological conditions, intellectual disabilities, some cancers, autoinflammatory diseases and other health issues, and they can be disabling and even life-threatening.

A new approach

Now, a European collaborative is working to detect rare diseases earlier through a two-pronged strategy called Screen4Care.

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.

"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 Screen4Care'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-and-true 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."

Author bio

Gaby Galvin is a freelance journalist based in Amsterdam.

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