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Excerpt from Deep Medicine: How Artificial Intelligence Can Help Make Healthcare Human Again, by Eric Topol

My close friend, Dr. Stephen Kingsmore, is a medical geneticist who heads up a pioneering program at the Rady Children’s Hospital in San Diego. Recently, he and his team were awarded a Guinness World Record for taking a sample of blood to a fully sequenced and interpreted genome in only 19.5 hours.

A little while back, a healthy newborn boy, breastfeeding well, went home on his third day of life. But, on his eighth day, his mother brought him to Rady’s emergency room. He was having constant seizures, known as status epilepticus. There was no sign of infection. A CT scan of his brain was normal; an electroencephalogram just showed the electrical signature of unending seizures. Numerous potent drugs failed to reduce the seizures; in fact, they were getting even more pronounced. The infant’s prognosis, including both brain damage and death, was bleak.

A blood sample was sent to Rady’s Genomic Institute for a rapid whole-genome sequencing. The sequence encompassed 125 gigabytes of data, including nearly 5 million locations where the child’s genome differed from the most common one. It took twenty seconds for a form of AI called natural-language processing to ingest the boy’s electronic medical record and determine eighty-eight phenotype features (almost twenty times more than the doctors had summarized in their problem list). Machine-learning algorithms quickly sifted the approximately 5 million genetic variants to find the roughly 700,000 rare ones. Of those, 962 are known to cause diseases. Combining that information with the boy’s phenotypic data, the system identified one, in a gene called ALDH7A1, as the most likely culprit. The variant is very rare, occurring in less than 0.01 percent of the population, and causes a metabolic defect that leads to seizures. Fortunately, its effects can be overridden by dietary supplementation with vitamin B6 and arginine, an amino acid, along with restricting lysine, a second amino acid. With those changes to his diet made, the boy’s seizures abruptly ended, and he was discharged home thirty-six hours later! In follow-up, he is perfectly healthy with no sign of brain damage or developmental delay. 

Topol, Eric. Deep Medicine (pp. 4-5). Basic Books. Kindle Edition.