The first person to be saved by whole genome sequencing

Huntsville, Ala. — The story of a groundbreaking genomic medicine case led by HudsonAlpha researchers is now available. “One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine” (Simon & Schuster, April 2016), follows the diagnostic odyssey of Nic Volker, the first person to be saved by whole genome sequencing.

Volker, a young child suffering from a devastating and unknown disease, was dying. He already had endured more than 100 trips to the operating room, dozens of doctors, and many failed attempts at treatment. Then in 2009, a pediatric gastroenterologist at the Medical College of Wisconsin asked colleague Howard Jacob, PhD; now with HudsonAlpha; to sequence Volker’s genome and “take the first step into the future of medicine.”

“Finding a diagnosis for Nic through genome sequencing was a one in a billion shot,” said Jacob. “But it was a shot we had to take because it may have been the last chance at saving his life. How do you not do it?”

Jacob sought out the help of fellow researchers David Bick, MD; Jozef Lazar, MD, PhD; and Liz Worthey, PhD; who also joined HudsonAlpha in 2015.

The team had to get the sequencing approved, perform the sequencing, and then a software program had to be created to analyze variants to help the team identify what was making Volker sick.

The software, created by Worthey, was named Carpe Novo, Latin for “seize the new.”

The team identified the variant and diagnosed Volker with XIAP deficiency, a rare primary immunodeficiency. It was treatable.

“We ended up doing a cord transplant, which essentially gave Nic a new immune system,” said Jacob. “ About six weeks later, he was able to eat after being on parenteral nutrition for nine months.”

The story was first chronicled by the authors of the new book, Kathleen Gallagher and Mark Johnson, in a three-part newspaper series, which earned them a Pulitzer Prize in 2011.

“The story of the first human being whose life was saved by genome sequencing is riveting, a veritable tour de force by Johnson and Gallagher,” said Eric Topol, author of “The Patient Will See You Now” and Professor of Genomics at the Scripps Research Institute. “But the narrative goes well beyond this one remarkable boy ━ this is medicine’s future.”

The book also includes personal accounts from Amylynne Volker, Nic’s mother, about the ongoing struggle to find a diagnosis for her child. “One in a Billion” is now available from Amazon, Barnes & Noble, Books-A-Million, IndieBound and will be in select regional bookstores soon.