As part of the PGP's first 10 participants, I contributed my entire medical record, phenotype, and genotype in the hope that this data will support research to enhance personalized medicine for future patients.
The first analysis of my genome reveals:
1. I carry a mutation for Hereditary Motor and Sensory Neuropathy with Optic Atrophy (HMSN VI), also known as Charcot Marie-Tooth disease. Specifically, the base pair change is
Chromosome 1, MFN2 (mitofusin 2 protein)
HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
H T V R A K Q
Reference: CAC ACG GTC CGG GCC AAG CAG
Me: CAC ACG GTC TGG GCC AAG CAG
H T V W A K Q
My father has had Multiple Sclerosis for 18 years and thus my family has had many discussions about neurological disorders. HMSN typically affects patients in their childhood and thus far, no one in my family or me has been directly affected.
2. I'm heterozygous for Severe Combined Immunodeficiency Disease (Boy in a Bubble Syndrome)
Other than 2 episodes of Lyme disease, I've not had any infections requiring treatment nor has my daughter.
3. I have 2.23 times average risk for Prostate Cancer.
The papers about this particular mutation studied two simultaneous mutations and I only have one. Thus, it's unclear if a single mutation has the same risk as two.
4. I have a no Kell antigen which could have implications for future blood transfusions. If I was ever transfused, I could develop antibodies against Kell antigens that could cause a transfusion reaction upon a second transfusion.
5. I have several mutations which put me at increased risk for Tuberculosis.
During residency, I led the TB service at Harbor UCLA Medical Center. Several of my fellow residents developed positive PPD's, but I did not seroconvert. Thus, after extensive exposure, I've remained PPD negative, so I appear to be doing well despite the genetic risk.
What does all this mean?
1. I will certainly be aware of any neurological or ocular findings in any family member
2. My PSA is .4 and my prostate exam is completely normal. I will take any changes in prostate health more seriously than before.
3. I've encouraged other members of my family to get involved as future PGP subjects. Is there any relationship between my father's MS and the mutation I carry which causes Hereditary Motor and Sensory Neuropathy? Is there any relationship between the mutation for Severe Combined Immunodeficiency Disease and my mother's Celiac disease? These and other research questions will be possible as more people, including those in my family, contribute their lifetime medical records and genomes to PGP.
I'll share all my experiences with the Personal Genome Project and the release of my genome via my blog. You'll also find a podcast on the BIDMC website.