When the first human genome was sequenced back at the turn of the millennium it took an international team 13 years to complete. It was also an exceptionally expensive project, costing US$3 billion. Thankfully as science has advanced genome sequencing has become much more cost effective, and much much faster.
Researchers at Rady Children’s Hospital are now able to rapidly sequence, in three days or less, the whole genome of newborns who are critically unwell from unknown causes. One child who benefited from this testing was a young boy called Maverick. He appeared healthy when he was first born, but after 6 days he began having seizures with no known cause, that did not respond to anti-seizure medications. Thankfully ultra-rapid sequencing of Maverick’s genome indicated a cause for his seizures – pyridoxine-dependent epilepsy. His doctors were able to stop Maverick’s seizures by controlling a number of dietary amino acids in addition to administering high doses of vitamin B6.
If this testing become standard of care for sick infants it could drastically reduce the amount of time and money spent on diagnostic tests, reduce the number of surgeries and procedures performed and reduce the amount of time spent by these sick kids in hospital. This type of testing saved Maverick’s life and could help save the lives of countless unwell infants in need of diagnosis and effective treatment for their conditions, although its use is controversial.
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