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instrument large-scale and population level “signals” that inform research and
policy making activities. Finally, there are relationships (labeled as [3] in Fig.
2.1
)
between providers and healthcare organizations, and patients and their surround-
ing communities that provide both the basis for the practice of knowledge driven
healthcare as well as the determination of process and outcomes-oriented mea-
surements of such activities, which can again inform research and policy making
activities. This overall model is illustrated in Fig.
2.1
and will be described in
further detail throughout this chapter.
It is extremely important to note that while such a categorization and relationship
schema would appear to indicate concrete and discernable barriers between such
roles and activities, in “real world” settings, such intersection points are often quite
“fuzzy”, with individuals and organizations fulfi lling multiple and simultaneous
roles. Thus, readers should be aware of this complexity when attempting to apply
the described model to assess and evaluate “real world” problem domains.
2.2
A Prototype of Translational Informatics in Action
Our example case of TI in action will focus on the most common type of colon can-
cer, known as colon adenocarcinoma [
6
]. This is a diagnosis that affects 140,000
people per year in the United States according to the National Cancer Institute
(NCI), with a incidence of approximately 40 cases for every 100,000 people [
6
].
People age 50 years and older are at the highest risk for this type of colon cancer. In
some but not all cases, colon adenocarcinoma can be aggressive, metastasizing from
the primary site in the colon to other parts of the body, including organ systems as
well as the lymphatic system. While highly treatable (with more than 50 % of
patients surviving for 5 years or more after therapy), the likelihood of a positive
clinical outcome post-treatment increases dramatically if the cancer is detected
early (with long term survival rates of 80 % or higher given early diagnosis and
treatment). One of the challenges relative to such early detection and treatment is
that colon adenocarcinoma grows slowly at fi rst, and patients can often remain
symptom free for up to 5 years. Symptoms that lead to the diagnosis of colon adeno-
carcinoma often include gastrointestinal bleeding or blockages, as well as general
abdominal pain, fatigue, shortness of breath, and angina. A typical screening or
diagnostic protocol for the detection of colon cancer includes digital rectal exam,
blood testing, and a colonoscopy. Confi rmation of a colon adenocarcinoma diagno-
sis usually involves the collection of a biopsy that is then reviewed by a pathologist
using a microscope or equivalent imaging modality. If pathology studies confi rm the
diagnosis, additional imaging studies maybe used to both stage the primary cancer
(e.g., assess its size and severity) as well as to detect any metastases. Treatments
available for patients with confi rmed colon adenocarcinoma include chemotherapy,
radiation therapy and/or surgery. Of these options, surgery is usually the “front line”
treatment, especially for those cases that are detected early. Of note, while less than
4 % of colon adenocarcinoma cases are directly attributable to familial genetics, an
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