Information Technology Reference
In-Depth Information
Chapter 4
Leveraging Electronic Health Records
for Phenotyping
Adam B. Wilcox
By the End of This Chapter, Readers Should Be Able to:
￿ Understand phenotyping
￿ Understand how data from electronic health records (EHRs) can be used for
phenotyping
￿
Identify the key challenges to using EHR data for phenotyping
￿
Understand current changes that can affect phenotyping from EHR data
4.1
Introduction
Arguably the greatest advancements in biomedicine over the last few decades have
been in genetics. From the mapping of the human genome to the development of
genetic testing to research biobanks, genomic science has advanced to be a domi-
nant fi eld in biomedical research. Today, research labs across the country are con-
stantly mining the genetic code of thousands of individuals, identifying associations
that can change both the way health care is delivered and how disease is prevented.
The fi rst human genome was sequenced at a cost of nearly $3 billion [ 1 ] - in a few
years, scientists expect the cost to drop to around $100. This opens opportunities for
even more genetic studies, which will only increase the impact of genetics on how
we understand health.
Currently, among the most common studies using genetics are genome-wide
association studies (GWAS). These are done by taking a large number of sequenced
genomes of patients along with specifi c characteristics of the patients, and
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