2. Learning Objectives
After reading this chapter the reader should be able to:
• Define Bioinformatics and how it interfaces with Medical
Informatics
• State the importance of Bioinformatics in future medical
treatment
• Describe the Human Genome project and its many
important implications
• List private and governmental bioinformatics databases
• Describe the application of Bioinformatics in genetic
profiling of individuals and large populations
3. Definition of Bioinformatics
• “the field of science in which biology,
computer science and information
technology merge to form a single
discipline”
4. What is Bioinformatics
• Bioinformatics is the application of
computer technology to the management
of biological information.
• Computers are used to gather, store,
analyze and integrate biological and
genetic information which can then be
applied to gene-based drug discovery and
development.
5. Other Bioinformatics Terms
There are other bioinformatics terms worth
defining:
• Genomics: the field that analyzes genetic
material from a species
• Proteomics: the study of gene expression at the
level of proteins. Proteomics is the large-scale
study of proteins, particularly
their structures and functions.
• Pharmacogenomics: the study of genetic
material to look for drug targets
6. Uses of Bioinformatics
Besides diagnosing the 3000-4000 hereditary diseases
that exist today, bioinformatics may be helpful in the
following areas:
• Protein research to discover more targets for future
drugs
• Pharmacogenomics to personalize drugs based on
genetic profiles
• Complete genetic profiles will lead to better preventive
medicine tests
• Gene therapy to treat diseases such as cancer. The
most common way to achieve this is to use genetically
altered viruses that carry human DNA.
7. Uses of Bioinformatics…
• Microbial genome alterations for energy production (bio-
fuels), environmental cleanup, industrial processing and
waste reduction
• Genetically engineered drought and disease resistant
plants
• In spite of these interesting areas, it is estimated that
less than 0.01% of microbes have been cultured and
characterized.
8. Future of Bioinformatics
At least three trends are appearing with regards
to bioinformatics:
1) integrating genomic information with electronic
health records
2) personal genetic services
3) population-based genetic data.
9. Future of Bioinformatics…
1) Integration with electronic health records:
• The patient’s genetic profile will be one more
data field in the electronic health record.
• Recently, gene variants have been identified for
diabetes, Crohn’s disease, rheumatoid arthritis,
bipolar disorder, coronary artery disease and
multiple other diseases.
• Kaiser-Permanente has created the Research
Program on Genes, Environment and Health.
10. 1) Integration with electronic health records …
• In the first phase, 2 million members will be
surveyed to determine their medical history,
exercise and eating habits.
• The second phase will require the voluntary
submission of genetic material
• To our knowledge, no electronic health record
collects this information and uses it for clinical
decision support.
• Data standards have been developed so family
history can be part of EHRs and PHRs
11. 1) Integration with electronic health records …
• There is a new government sponsored free tool
available for the public to upload their family
history using the newest data standards.
• In this way, the results can be saved as a XML
file and shared by EHRs and PHRs.
• My Family Health Portrait is available for English
or Spanish speaking patients, is easy to use but
does not store any patient information on the
site.
• Instead, patients can store the XML file on their
personal computers
12. 2) Personal Genetics
• Patients will want to know their own genetic
profile
• Companies such as Celera Genomics will take
advantage of the genomics project to offer
genetic mapping services and
pharmacogenomics.
• DNA Direct is another company that offers
online genetic testing and counseling.
• They do offer both patient and physician
education and have staff genetic counselors
13. 3) Population Studies
• Oracle Corporation will partner with the
government of Thailand to develop a database
to store medical and genetic records.
• This initiative was undertaken to offer
individualized “tailor made” medications and to
offer bio-surveillance for future outbreaks of
infectious diseases such as avian influenza
• Artificial intelligence will be used to search
medical records for terms such as asthma and
smoking.
14. Genetic Prediction Obstacles
• The disease you are interested in is common. Even with
common breast cancer, when you evaluate 7 established
genetic variants, they only explain about 5% of the risk
for the cancer. If the disease (example Crohn’s disease)
is rare, then the test must be highly predictive
• In order for genetic testing to be relevant you should
have an effective treatment to offer, otherwise there is
little benefit
• The test must be cost effective, as many currently are
too expensive. As an example,screening for sensitivity to
the blood thinner warfarin (Coumadin) makes little sense
at this time due to cost
15. Key Points
• Bioinformatics will introduce a treasure
trove of genetic information into the field of
medicine
• At this point Bioinformatics seems like a
field remote from medicine, but that will
change with pharmacogenomics and
personal genetic profiles
• Many organizations worldwide are
beginning to collect and collate genetic
• information
