When did the era of “Genomic Medicine” begin? This question will be debated for a long time. Mark Johnson and Kathleen Gallagher describe the experience of Nic Volker in “One in a Billion” and argue that his diagnosis and treatment mark the beginning of “Genomic Medicine”. As background, Nic Volker developed severe gastrointestinal problems as a toddler and had hundreds of surgeries, including c
omplete removal of his colon before age five. Multiple efforts to diagnose Nic, including testing single genes, were unsuccessful.
There are multiple protagonists in this story, showing that this success was a team effort:
- Nic Volker – a child who has experienced challenges that most of us cannot imagine.
- Amylynne Volker (Nic’s mother) – like many parents of children with undiagnosed diseases, she refused to give up and was a tireless advocate for her son. The book does a great job of describing the dynamics between parents and providers.
- Howard Jacob – a researcher whose early career focused on rat genetics, he led the sequencing and analysis effort for Nic.
- Elizabeth Worthey – a bioinformaticist (yeah!) and researcher who developed some of the tools necessary to interpret the results of Nic’s genome and performed the sequence analysis.
- Nic’s providers, including David Dimmock and Alan Mayer. They were willing to work beyond traditional practice.
- Countless others, including genetic counselors and a supportive community.
The group found many variants in Nic’s genome but eventually focused on variants in the XIAP gene. Even though Nic’s symptoms were gastrointestinal, XIAP encodes a protein that had previously been associated with immune diseases. This finding ultimately offered a justification for a risky treatment that had already been under consideration for Nic, bone marrow transplantation (BMT). After undergoing a BMT, Nic eventually became healthier than at any point in his young life, though he still faces challenges related to his many surgeries and the removal of his colon.
The authors do a very nice job of sharing the perspectives of Nic’s family, his providers and the genomics team at the Children’s Hospital of Wisconsin. The complex ethical issues related to unproven technologies and complex information are handled in a balanced manner. The transition from research to patient care is covered very clearly. In particular, the authors show how an unrelenting parent of a child with an un-diagnosed condition is a critical part of the team. Nic’s mother studied everything presented during the years of their diagnostic odyssey. And ultimately she was faced with a decision that could put Nic’s life at risk but could also offer him the opportunity to become healthy.
Genomic diagnosis is the determination that a variant in the genome is the likely cause for a patient’s symptoms. Genomic medicine is the combination of a diagnosis informed by genomic testing (usually sequencing) and a non-obvious treatment selection. “One in a Billion” provides a very accessible example of the new hope that this new approach to medicine can offer to patients who do not fit into textbook diagnosis and treatment algorithms.
