Bloomberg's John Lauerman has a rare JAK2 variant that is associated with cancer-like blood disorders, including myelofibrosis. He also has a APOE-C130R variant that increases his risk of Alzheimer's disease. Despite this, the 53-year-old Personal Genome Project participant says he considers himself fortunate.
"Since the [JAK2] mutation was confirmed, I've decided to have a complete blood count to see whether any of my levels are abnormal. If that's the case, I might need treatment," Lauerman says in this Bloomberg video. "Overall, I feel lucky that I'm aware of this potential problem, and that as a result of having my genome sequenced, I might be able to get treatment early if there's anything wrong."
Harvard Medical School's Joe Thakuria says Lauerman's JACK2 variant is "probably the most serious variant that we've actually seen to date in this study."
In an accompanying article, Lauerman describes his reactions to this news. "Information was starting to wash over me without really penetrating. I struggled to keep thinking of good questions for the team," he says. "I tried to listen closely as Thakuria explained what the [JAK2] variant … might mean."
He also describes the reactions of his family. "I talked with my two children, Hanna and James, about their feelings regarding the JAK2 and Alzheimer’s gene variants. My daughter, a sophomore in college, said she thinks it’s an advantage to be aware of a health threat," Lauerman says.
"I might live the rest of my life with my health unaffected by the [JAK2] variant," Lauerman says, though he adds that, with his genome sequence in hand, "vigilance might be beneficial."