Biomedical Engineering Reference
In-Depth Information
dates back only to the time of the original Viking settlers around 800 AD, and there are meticulous
records of family history, every native's genetic heritage is available online through a government-
run database. In addition, the researchers at deCODE, through a hotly debated arrangement with the
Icelandic government, purchased the exclusive rights to access every citizen's medical records, most
of which are in electronic form.
Because of the similarity of the genetic code in the closed population, DNA samples from families that
suffer from particular diseases can be compared to those of closely related families who are disease-
free. Through data mining, researchers at deCODE hope to identify the genes responsible for a
variety of diseases, such as osteoarthritis. The competitive advantage of the company isn't the latest
sequencing or microarray machines; it's their ability to integrate data from Iceland's family tree and
medical record databases with deCODE's own patient DNA database and to manage that data in a
way that supports the company's research objectives.
In this scenario, patient medical records are combined with genomic data in order to associate genes
with particular diseases. Researchers in the laboratory also have access to the public and private
online databases, such as those from the National Center for Biological Information and Celera
Genomics, respectively. In addition to numerous application-specific databases in the clinical
departments and local databases associated with the sequencing machines, researchers query local
data repositories of aggregated data, data marts, and a data warehouse. Some of the information
technology components in this scenario, such as the data sources, are obvious, whereas others, such
as standards for data formats, would only be apparent to the researchers who work in the
environment on a daily basis.
Pharmacogenomics and Aggression
To illustrate the data-management issues associated with a biotech research effort that depends on
multiple, disparate systems and accompanying databases, assume that the laboratory depicted in
Figure 2-2
focuses on understanding the genetic basis for aggression, with a goal of creating new,
more effective medications to control the behavior. The challenge is formidable on a number of
fronts. For example, there is no universally accepted definition for aggression. The standard source
for the definitions of human behavior for clinicians and third-party payers in the U.S., the Diagnostic
and Statistical Manual of Mental Disorders, Fourth Edition-Text Revision (DSM-IV-TR), doesn't contain
a definition of aggression or violence. Furthermore, some clinicians use the terms "agitation" and
"aggression" interchangeably. However, the DSM-IV-TR describes agitation as excessive,
nonproductive, and repetitious motor activity—such as pacing, fidgeting, and an inability to sit
still—secondary to feelings of inner tension. Other clinicians view agitation and aggression as
representing the spectrum of behaviors from simple anxiety to overt physical aggression against
others.
Despite the lack of a clear definition, a commonly used method of classifying the behavior of
individuals thought to be aggressive is to use a questionnaire and then evaluate the results according
to rating scales designed to systematically evaluate the signs of aggression. For example, the Overt
Aggression Scale (OAS), quantifies verbal aggression (from making loud noises to threatening
violence), physical aggression against self (from pulling hair to deep cuts), physical aggression
against objects (from slamming doors to breaking windows), and physical aggression against other
people (from threatening gestures to breaking bones). However, even this widely recognized scale
isn't all-inclusive. For example, it doesn't distinguish between acute and chronic aggression. Although
there is no universally accepted boundary between acute and chronic aggression, a one-month
timeframe is often used as the breakpoint. The distinction between acute and chronic aggression has
practical significance because patients diagnosed with chronic aggression are eligible for insurance
coverage for behavioral modification and pharmacological treatment, including the use of
antipsychotic drugs, while drugs for patients diagnosed with acute aggression are not covered by
insurance.
Researchers in the lab might use an online literature reference database, such as PubMed, to identify
prior research in academia and perhaps published reports from other companies working on the
genetic basis of aggression. A reasonable place to start in the search for prior research would be the
