In August of last year, I wrote with hope and excitement about the launch of the 23andMe MPN Research Initiative because my father, Harvey, suffers from myelofibrosis. On March 5, 23andMe scientist Bethann Hromatka posted a SNPWatch report about the association between the JAK2 gene and MPNs.
23andMe customers can view their own data at a region in the genome that has preliminarily been observed to correlate with increased risk of developing an MPN. One genetic variant is associated with MPN in people with European ancestry and another is associated with MPN in people with Asian ancestry.
Over the last eleven years, I have watched my father live through moderate ups and suffer through severe downs, including experiencing rare side effects to treatments, emergency room visits, regular blood transfusions, and surgery. My father has come to adjust to an overall, everyday diminution of quality of life and an increasing number of health issues that may or may not be related to his myelofibrosis.
During this time, I think it would be fair to say that my father and his wife, Karen, have spent at least as many days in doctor and hospital waiting rooms and offices, or recuperating from those visits, as out of them. Though we don’t often speak of it, we all wrestle with the only thing we all know-that one day there won’t be more waiting rooms or decisions to make.
So it might be surprising that I wanted to look up my data. It might be more surprising that when I found I have a CG at rs12340895 on JAK2, which increases my odds of developing V617F-positive MPN between 2 to 4 times, that I was glad to have the information and that I was neither alarmed nor upset.
To the contrary, I am grateful to have this information about myself, amazed that fellow members of the 23andMe community can access this data, and more hopeful than ever that our research and the research of others will drive more discovery in MPNs and other diseases.
While in the past I have answered theoretical questions surrounding information that is not currently actionable, such as APOE status, I am satisfied though not surprised that after having a personal experience to the most personal disease state for my family, my answer remains the same. Information is power for those who want it and medical action is not the only meaningful action individuals can take.
It is our goal in 2012 to dramatically increase participation in crowd-sourced research. Every single person who answers our surveys is helping us move closer to changing the lives of those who are suffering from diseases like MPN. It is distressing to think that each one of us is or will be impacted by disease, whether in ourselves or a loved one. What is powerful is the action I can take right now to have an impact on their outcomes.
In this vein, please join in my long-standing delight in this Josephine Miles poem, titled “Family.” As large numbers of us join the crowd-sourced research effort, in the end, it may well be like the character in Miles’ poem, the “seventeen-year-old cub” — someone who is both foreign and remote — who saves us. And as Miles says in her poem, “This is what is called the brotherhood of man.” (Read the poem in its entirety here.)