[Magazine] How genetic testing and new technology can help diagnose rare diseases

In order to be classified as a rare disease in the EU, the disease must affect fewer than 1 in 2,000 people. These conditions include neurological disorders, intellectual disabilities, certain cancers, auto-inflammatory diseases and other health problems that can be disabling or even life-threatening.

a new approach

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

The first involves the widespread deployment of newborn genetic testing to identify babies who may have rare diseases, 72% of which have a genetic origin. The second is using artificial intelligence (AI) to build meta-symptom checkers for patients with difficult-to-understand complications and flag patients at risk for rare diseases based on electronic health records.

The five-year, €25 million programme, launched in late 2021, has around three dozen academic, government and industry partners from 14 countries. Screen4Care, managed in part by patient advocacy groups, hosted by the Innovative Medicines Initiative and funded by the European Union and the European Federation of Pharmaceutical Industries and Associations, aims to create a rare disease testing framework that can be adapted across the EU and beyond.

“More diagnostics will lead to more research and overall improved outcomes for the many rare disease patients who have no treatments and no pathways to care,” said Nicolas Garnier, the pharmaceutical giant’s head of rare disease patient advocacy. “EFPIA project leader for Pfizer and Screen4Care.

After several years of planning and development phases, 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 time-tested public health tool – heel prick tests have been used since the 1960s – but the Screen4Care trial will look for hundreds of rare diseases and aims to make newborn genetic screening more accessible Cheaper and thus more widely available.

At the same time, the consortium is reconsidering its second branch, one focused on artificial intelligence and machine learning, given the explosive growth of generative AI tools in 2023. The Screen4Care initiative was first proposed in mid-2019, and Garnier said he wanted to “future-proof” the AI ​​tools to prevent them from becoming obsolete as technology evolves. The goal is to have a “trained and tested” algorithm available by the end of the program in 2026 that can flag high-risk patients based on their medical records.

Garnier said at the time that the alliance would present a series of recommendations to EU policymakers to expand its work. Given that gaps in rare disease testing are evident even within Europe, one of the key policy areas is equity. For example, as of 2022, Italy screened newborns for more than 45 diseases, while France screened newborns for less than 10 diseases, and Romania and Cyprus screened only two in their national plans. disease.

“Even now, similar technologies are available in different countries and the adoption is really different,” Garnier said.

This is largely due to public policy. The logic, Garnier said, is this: If a disease can’t be treated, don’t screen for it. But he hopes identifying these conditions anyway will provide a better understanding of the size of patient populations with specific rare diseases and inspire pharmaceutical companies to invest in research and development to treat them.

Fair detection

Regional differences across the globe are likely to become more pronounced over time. Garnier said that within a decade, widespread newborn genetic screening could become common in the European Union and the United States, but some countries may lag behind due to a lack of resources.

Garnier said the Screen4Care program has international adaptability, but its long-term success will depend on policy efforts to prioritize rare disease diagnostics as a first step toward widespread access to treatments for the millions of people with rare diseases around the world.

“Science and innovation will move much faster than policy — that’s not new,” Garnier said. “The limiting factor is really policy. That will be the challenge and the determining factor in rare disease diagnosis in 2033.”