Milwaukee Journal-Sentinel, Forbes: A big series’s update – clinical, customized gene sequencing now covered by some insurance
In January an earlier post here caught ksjtracker readers up on a medical series that the Milwaukee Journal-Sentinel had run in December. It told of a little boy and the dreadful, relentless disease that made a wreck of his digestive system, nearly killed him several times, forced an incredible odyssey of repeated surgeries and infections, and of the genuinely amazingly dedicated medical staff members at a local hospital. They dove ahead of the genetic sequencing wave in modern medicine and laboriously sequenced the boy’s genes pretty much all by themselves. They found a single typo in a key protein’s code, a mutation seen neither in human nor animal before. It led to a risky marrow transplant that has, so far, appeared to have worked. It was an intimate profile of the family, of the six-year-old patient, and of modern hi-tech medicine at its best.
I just re-read it and, as with the first time, sobbed at the end. It’s not sad at that point. But it packs emotional wallop.
Writers Mark Johnson and Kathleen Gallagher have an update out. It is not on the boy, whose story captivated the regional paper’s readers adn went national via TV. They seem to have given the family a break from the intense publicity for now – the little patient is apparently still doing well. This one instead documents the ripple effect in the broader medical world of this pioneering use of DNA sequencing as a guide to diagnosis and treatment of specific patients who appear to carry rare mutations. More efforts are underway. One insurance company is even covering the costs. And the equipment for doing such jobs is getting better, and cheaper.
Also covering this gradual embrace of full-genome sequencing for individual medical decision making is Forbes, where medical writer Matthew Herper focusses on the insurance angle – a pretty good indicator whether a procedure is crossing from the experimental to the standard practice category.
- Charlie Petit
