Personalized medicine publication, Genome magazine, spoke to Howard Jacob, PhD about the case of Jack Brayman and the financial barriers of whole genome sequencing.

When Mindy Brayman’s son Jack was born in 2002, he seemed perfectly healthy. But by the time he turned 6 months old, it was clear Jack wasn’t meeting his developmental milestones. He wasn’t eating enough either, and doctors diagnosed him with failure to thrive, a catchall that can be applied to any child with poor physical growth. Jack ended up in the hospital, where he saw a long line of doctors and underwent test after test, all of which came back inconclusive. They couldn’t find anything wrong with Jack.

Another two years went by and finally the Braymans got a break. A genetic counselor called to tell them that the Medical College of Wisconsin was the first place in the country offering genome sequencing on a limited, experimental basis in cases like theirs.

Fast-forward to today, and there are sure signs that this form of personalized medicine is about to become accessible to many more people with similarly mysterious genetic conditions and to their families. Howard Jacob, a member of Genome’s advisory board, directed the sequencing of Jack’s genome and those of many other sick kids before and since.

Read the full story here.

 

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