Personalized Medicine - Translational Informatics: Realizing the Promise of Knowledge-Driven Healthcare - page 47

interaction turns out to be epigenetic. This change persists, enhancing expression of
FKBP5, causing higher risk of developing PTSD in adulthood [ 36 ].

3.4.6 The Microbiome

It has long been known that our gut, skin, and mucosal membranes are host to an
entire ecosystem of microbial organisms that live with us in a symbiotic fashion.
Less commonly recognized is the fact that human beings carry around approxi-
mately ten times as many microbial cells as human ones [ 37 ]. In attempting to target
therapies to the individual, it would be ill-advised to ignore such a signifi cant con-
tributor to our constitution. The Human Microbiome Project is a large-scale NIH-
funded initiative with the goal of characterizing microbial communities found on
several different sites of the human body. Ultimately this effort seeks to understand
the relationship between diseases and changes in the human microbiome.
The microbiome has been shown to play a role in a wide range of diseases,
including autism, depression, infl ammatory bowel disease, type 1 diabetes, and
various other autoimmune related illnesses [ 38 ]. Again, new sequencing tech-
niques have enabled deeper exploration of these microbial communities, fostering
a greater understanding of the make-up of these microbial ecosystems, the conse-
quences of microbial imbalance, and potential therapeutic interventions to restore
a healthy population. As one somewhat surprising example, a procedure known as
fecal microbiota transplant, or FMT, has been performed with great success for
the treatment of C. diffi cile infection [ 39 ]. Medicine does not get much more per-
sonal than that.

3.4.7 Clinical Decision Support

The human brain has a fi nite capacity to integrate different data sources [ 40 ]. This
fact can be limiting even in the traditional practice of medicine, as it has been per-
formed for decades. Increasing the number of facts or parameters that must be taken
into account to inform health care decision making only serves to exacerbate this
problem. The introduction of novel, high dimensional data types into clinical care
(Fig. 3.7 ) takes us down this path.
Informatics, more specifi cally bioinformatics, introduces the challenge of a data
deluge. Informatics also helps address this challenge in the form of clinical decision
support (CDS). The information technology system underlying electronic health
records can effectively integrate dozens, hundreds, even thousands of data points to
make a recommendation regarding therapeutic decisions. Novel visualization tech-
niques help to deliver these recommendations, along with the underlying reasoning,
to time-constrained clinicians at the point of care.