Common symptoms expressed in an intense or complicated way, or the presence of many symptoms in the same patient, should raise suspicion of rare disease, said one clinician.
Routine sampling and analysis of newborn DNA would enable screening for hundreds of childhood genetic diseases, but also raises concerns about privacy and ethics.
Baby Ben Kutschke was diagnosed at 3 months with spinal muscular atrophy, a rare inherited disorder which is the leading genetic cause of death in infancy globally.