Quantified Self, 23andMe, Risk Perception and Alzheimer’s disease.

It has been my greatest fear about growing old and I believe that it is shared by many. Loss of coherence, memory and identity. It is a form of death in my view made no less cruel (and perhaps moreso) by the continuation of the body. I saw it happen to my grandfather. Not at close range but it happened in the background and I did not really want to observe it any closer. To face this fear is why I originally created DNA Digital. My focus has shifted but this aim is never far from my mind.

My 23andMe results have come back and indicate that I have a lower than average risk for Alzheimer’s disease based on my profile in the Apoε gene. The Apoε locus remains the most potent influence on the risk of Alzheimer’s disease but even the worst case genotype at Apoε does not guarantee Alzheimer’s disease development although it very substantially increases the risk.

Our current understanding of genetics does not enable us to have any pretensions of clear cut determinism. Single genes with dramatic manifestations in our biology are very much the exception rather than the rule (Please watch the movie GATTACA to reinforce this point). I had already undertaken behaviours to mitigate my risk of Alzheimer’s disease and will continue them. However, I did breathe a sigh of relief when I discovered my Apoε genotype.

In reviewing the data my perspective shifted to some risks that I was not previously aware existed. One of which was the presence of genes associated with iron accumulation. I had been a sporadic blood donor because I was aware in general that men tend to accumulate iron and excess iron can be toxic. I had also avoided iron containing vitamin supplements for this reason. Now I realize that it is even more compelling for me to give blood in light of the additional risks that I have due to my genotype. Fortunately for myself and my children there were not any other genetic disease alleles present among those that were tested.

My deviation from rationality.

One realization that I had from the data was that the risk that I was paying the most attention to was not the risk with the highest probability. I have an elevated risk of Type 2 Diabetes and the absolute magnitude of that risk (34.2%) was about seven times higher than my risk (4.9%) of Alzheimer’s Disease. It is a common cognitive bias to focus on risks disproportionately with their actual probability and this is something I am determined to avoid going forward.

Some good news on the metabolic syndrome front is that several of my genes predispose me to be a high responder to exercise which can effectively mitigate my risk for weight gain, Diabetes and metabolic disease. Historically I have had low blood pressure and cholesterol when measured.

Quantified Self

A driving force behind this narcissistic focus on my health parameters is my approach to the Quantified Self. Briefly the Quantified Self movement tracks personal data because today’s technology enables large amounts of real time personal data to be captured including activity levels and health parameters. As an experimental scientist and drug developer my approach is geared to understanding the underlying parameters of the system that I am studying (Myself) so that I can identify the priority items to follow in order to optimize my health going forward.

Medical practice lags substantially behind the current scientific literature and is not designed to be tailored to the individual. In my view the best path to personalized medicine is for the patient to become an active steward of their own health and gather baseline data when they are healthy which will be very informative if they become ill because their will be a history to compare with the disease state or better yet the monitoring can enable early interventions before conditions become clinical. You have heard it many times “An ounce of prevention is worth a pound of cure.”

Action steps

In my view an important measure of utility of information is how it is used to inform actions. I renewed my commitment to giving blood by donating last week and scheduling another donation as soon as possible to reduce my iron load. I have been increasing my activity level with dedicated exercise time. I have moved to more actively monitor blood pressure and iron levels going forward. I am researching glucose monitoring technologies and will start to monitor that parameter as well. I have pushed my diet even more away from simple sugars and carbohydrates and increased the percentage of fat calories which is a different story which I will address at a later date.

Overall the 23andMe experience has been quite worthwhile and I recommend it to anyone who would like to take a more active role in the curation of their own health.