GeneDx’s Post

At the top of this month The New York Times published “She Was Told She Had an Untreatable Disease. But Did She?” This woman’s story represents the diagnostic odyssey many families of children with unexplained medical issues endure – going decades without answers and therefore no access to appropriate therapies and treatments. Today thanks to whole exome sequencing and genome sequencing, we can identify inherited disorders at birth.  Whole exome or genome sequencing should be offered at the first sign of concerning symptoms like seizures, developmental delay, or not being able to walk as experienced by this patient – not the last. If this patient was born today in New York City, her parents would have had access to enroll her in the GUARDIAN newborn screening study, shortening her journey to a few weeks instead of nearly 40 years. Launched by Columbia University, GUARDIAN uses genome sequencing to test for 450 genetic conditions, including COLQ (the causal gene in this story associated with congenital myasthenic syndrome), not currently included in standard newborn screening and provides the opportunity for pediatric patients to access accurate testing and life changing treatments.  In the world I envision, families of all newborns will have the chance to access testing for a genetic diagnosis at birth and, ideally, the support and treatment they need to live their lives to the fullest.