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The impact of genomics on the
future of medicine and health
Muhammad Faisal
2015-Arid-3638
PhD(scholar) Biochemistry
Doug Brutlag 2011
• What is genomic medicine?
 Genomic medicine or healthcare involves the use
of many pieces of genetic information in order to
help to:
 Assess a person’s risk of developing a disease
 Refine the diagnosis of disease, and predict
prognosis Individualise treatment
 Predict the effects of drugs, and prevent adverse
effects
 Develop new treatments
 Diagnose infections and track epidemics.
Doug Brutlag 2011
Leveraging Genomic Information
Novel Diagnostics
Microchips & Microarrays - DNA
Gene Expression - RNA
Proteomics - Protein
Novel Therapeutics
Drug Target Discovery
Rational Drug Design
Molecular Docking
Gene Therapy
Stem Cell Therapy
Understanding Metabolism
Understanding Disease
Inherited Diseases - OMIM
Infectious Diseases
Pathogenic Bacteria
Viruses
Doug Brutlag 2011
Impact of Genomics on Medicine
I. Diagnostics
II. Therapeutics
III.Ethical, Legal and Social Issues
IV.Strategic
V.Preventive
Doug Brutlag 2011
Impact of Genomics on Medicine
I. Diagnostics
• Genomics: Identifying all known human genes
• Functional Genomics: Functional analysis of genes
– In what tissues are they important?
– When in development are the genes used?
– How are they regulated?
• Novel diagnostics
– Linking genes to diseases and to traits
– Predisposition to diseases
– Expression of genes and disease
• Personal Genomics
– Understanding the link between genomics and
environment
– Improving health care
Doug Brutlag 2011
Doug Brutlag 2011
• Whole genome sequencing
 Whole genome sequencing (WGS) determines the
sequence of nucleotide bases throughout the entire
genome, rather than only the protein coding regions.
 whole genome sequencing is mainly used in
research studies.
 It appears to be useful for identifying variation in
regulatory sequences, as well as in coding genes.
Doug Brutlag 2011
Whole Exome sequencing
 The exome is the part of the genome which codes
for proteins, and represents around 2% of the total
DNA.
 Clinically, some of the most promising applications of
this technique are in disease diagnosis.
 It is particularly useful where family history suggests
an inherited Mendelian disorder.
Doug Brutlag 2011
• Genome wide association studies
 Genome wide association studies are especially
useful for finding genetic variations which contribute
to the development of common and complex
diseases.
 Examples include bipolar disorder, coronary artery
disease, rheumatoid arthritis, and types I and II
diabetes.
Doug Brutlag 2011
Microarray comparative genomic
hybridisation
 This technique is used to detect copy number
variations above a certain size.
 Microarray comparative genomic hybridisation has
become an essential diagnostic tool, particularly for
geneticists and paediatricians
 To detect microdeletion and microduplications, or
larger chromosomal disorders.
Doug Brutlag 2011
• Molecular Pathology’s network view of a sample
of tests and diseases
 A total of 45 nodes and 96 edges are depicted in
the figure.
 The nodes are the most common tests and
diseases in the directory and edges are drawn from
tests to disease if the test is used commonly for
disease characterization.
 The extent of genetic testing suggests that next
generation sequencing and whole genomic analysis
approaches have the potential to replace 85% of
the tests found in this directory.
Doug Brutlag 2011
Doug Brutlag 2011
Electro Health Recorded
Databases(EHR)
 A major role of the international Human Variome
Project (http://www.humanvariomeproject.org) is to
ensure that genetic variation information generated
during routine diagnostic and predictive testing is
collected and shared in the course of routine
clinical practice.
 Several countries have formed the Global Alliance
for Genomics and Health to develop a framework
for data sharing.
 Linking large population datasets to a personally
controlled EHR system add significant value to the
health care system.
Doug Brutlag 2011
Doug Brutlag 2011
Impact of Genomics on Medicine
II. Therapeutics
• Novel Drug Development
 Identifying novel drug targets
 Validating drug targets
 Predicting toxicity and adverse reactions
 Improving clinical trials and testing
• Gene therapy
 Replacing the gene rather than the gene
product
• Stem cells therapies
 Replacing the entire cell type or tissue to cure a
disease
Doug Brutlag 2011
• Pharmacogenomics
• What is pharmacogenomics?
 It deals with the influence of genetic variation
on drug response.
• What is the aim of pharmacogenomics?
 Personalized medicine
 Adjusting drug, amounts and delivery to suit
patients
 Maximize efficacy and minimize side effects
 Identify genetics of adverse reactions
 Identify patients who respond optimally
Doug Brutlag 2011
Applications of pharmacogenomics
Doug Brutlag 2011
Impact of Genomics on Medicine
III. Ethical, Legal and Social Issues
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•
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Personal Privacy
Insurability
Employability
Discrimination
Genetic selection versus eugenics
Cosmetic genetics
Patentability of genes, proteins and other
natural products
Doug Brutlag 2011
Doug Brutlag 2011
Impact of Genomics on Medicine
IV. Strategic
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

Genomics can discover disease associated genes
Genomics can discover disease causing genes.
Genomics provides understanding of disease
Genomics and bioinformatics provides basis for
novel drug development
 Genomics provides basis for novel genetic and stem
cell therapies
 Genomics provides the basis for preventive
medicine.
Doug Brutlag 2011
v) Preventive Medicine
Doug Brutlag 2011
Founder of Preventive Medicine:
Louis Pasteur
When thinking about diseases, I never think about
how to cure them, but instead I think about how to
prevent them.
Doug Brutlag 2011
Preventive Medicine
•
•
•
•
•
The goal is to prevent disease from occurring.
First one must identify the cause of the disease.
Treat the cause of the disease rather than the symptoms
Genomics identifies genetic causes of inherited disease.
When Paul Wise (a Stanford pediatrician) heard that we
may soon sequence every child’s genome at birth, he
stated:
– “… all medicine may soon become pediatrics!”
• Infectious disease, auto immune disease and aging:
environmental or acquired diseases
Doug Brutlag 2011
Health Care Policy
 Current health care treats disease rather than
maintaining health (Illness care?)
 Future health care prevent disease
 Reduce need for expensive interventions
 Need social pressures to control behavior and
increase vigilance.
Doug Brutlag 2011
Future Prospective
 build the infrastructure for EHR databases that
integrate patients' genomic and medical
information for clinical and research applications
 establish national and international knowledgesharing platforms
 develop well designed and integrated public and
professional education efforts nationwide
Doug Brutlag 2011
Conclusion
• Genomic analysis provides opportunities for new
approaches to therapeutic development,
• health care delivery and population health
management
to
seize
the
transformative
opportunities that personalised, precision genomic
medicine offers.
Doug Brutlag 2011
References
• Anneke Lucassen and Richard S. Houlston. 2014.
The impact of genomics on the future of medicine
and health. Genes: 5, 576-585
www.mdpi.com/journal/genes
Doug Brutlag 2011
Doug Brutlag 2011