The average time from the appearance of mysterious symptoms to getting an accurate diagnosis for a rare disease is, by some estimates, about six years — a time during which children get no potentially lifesaving care and families know too little to participate in policy advocacy or clinical trials that might bring forth new treatments.
Currently, the U.S. government recommends screening newborns for only 63 conditions. Even for this limited set, states decide which ones are actually screened for within their borders, so a child’s chances of being accurately diagnosed at birth could depend on whether the family lives in Billings or Boston.
But a pioneering study underway in New York City that is sequencing the genomes of 100,000 newborns to screen for 238 treatable conditions points to the future of rare-disease diagnosis. Babies enrolled in the study are being screened for Wilson’s disease, glucose transporter deficiency, Long QT syndrome and other conditions, says Wendy Chung, the head of pediatrics at Boston Children’s Hospital who is leading the research. Parents of children in the study have the option to also screen for 100 additional neurogenetic conditions that could be helped by early physical and speech therapy or seizure treatments.
