For many children with rare neurological conditions, the path to a diagnosis can take years. Families often go through a long series of tests—blood work, scans, and multiple genetic analyses—without finding clear answers. This journey is sometimes called the “diagnostic odyssey.”
A new study from three Italian medical centers shows how clinical genome sequencing could change that.
Researchers looked at 64 children with complex neurological conditions who had already undergone at least one genetic test without a diagnosis. When the team used genome sequencing—a test that reads nearly all of a person’s DNA—they were able to identify the genetic cause of disease in 57.8% of cases.
That means more than half of these families finally received an answer after years of uncertainty.
The impact went beyond simply naming a condition. In many cases, the diagnosis helped doctors:
- Adjust treatment plans
- Avoid unnecessary or invasive procedures
- Plan appropriate follow-up care
- Provide more accurate genetic counseling for families
The study also looked at cost. Some patients had already undergone multiple tests, with average expenses reaching around €6,800 per patient—without a diagnosis.
Because genome sequencing can detect many types of genetic changes in a single test, using it earlier could reduce both time and overall healthcare costs.
In short, this research suggests a shift in thinking: instead of ordering several smaller genetic tests one after another, starting with a comprehensive genome test may provide faster answers, better care, and potential cost savings.
As genome sequencing becomes more affordable and widely available, it may play an increasingly important role in helping children with rare diseases get the answers they—and their families—have been waiting for.
References: Sirchia, Fabio et al. Advancing neuropediatric rare disease diagnosis through clinical Genome Sequencing Pediatric Neurology, Volume 0, Issue 0, 28 – 45 https://www.pedneur.com/article/S0887-8994(26)00017-2/fulltext
