Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
WHY IT MATTERS
If your child has unexplained neurological symptoms and multiple doctors haven't found a diagnosis, this research demonstrates that whole genome sequencing through healthcare systems may finally provide answers—potentially ending years of diagnostic uncertainty.
Researchers in Italy tested a new way to diagnose rare genetic diseases in children using whole genome sequencing—a test that reads all of a person's genetic code. Between 2018 and 2022, they studied 64 children with complex neurological problems that doctors couldn't figure out. This study shows whether this genetic test could help find answers faster for kids with mysterious rare diseases.
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing. Abstract: Many patients with rare genetic diseases remain undiagnosed or receive a molecular diagnosis only after years. In this study, we want to evaluate the usefulness of clinical genome sequencing (cGS) in a cohort of complex neuropediatric patients with undiagnosed rare genetic diseases. Between 2018 and 2022, our Medical Genetics Units in Torino, Trieste and Pavia partnered with the iHope program, a philanthropic initiative by Illumina Inc., with the aim of offering family-based cGS within the Italian National Health Service (Servizio Sanitario Nazionale) diagnostic process. A multidisciplinary team of pediatricians, clinical geneticists, and molecular biologists selected 64 cases. Inclusion criteria consisted of suspicion of an ultra-rare monogenic disease and at least one negative result fro Authors: Sirchia et al. Journal: Pediatric neurology MeSH: Humans, Rare Diseases, Child, Male, Child, Preschool, Female, Whole Genome Sequencing, Genetic Testing, Infant, Adolescent
ASK YOUR DOCTOR
Ask your pediatrician or neurologist whether clinical genome sequencing is available through your healthcare system or insurance, especially if your child remains undiagnosed after standard genetic testing.