Transcript Genomics

Genomics
Alexandra Hayes
• Genomics is the study of all the genes in a
person, as well as the interactions of those
genes with each other and a person’s physical
and social environment. (CDC 2011)
• All people are 99.9% identical in genetic
makeup. The differences in the remaining
0.1% hold important clues about health and
disease. (CDC 2011)
• The study of genomics helps doctors and
others understand why some people get sick
from certain infections and others while
others do not(CDC 2011)
Genomics
• Genomics has a role in 9 out of the 10 leading
causes of death in the United States
• Cancer and Heart disease are some of the
most common causes of death that genomics
has a role in.
• These diseases are partly the result of how
genes interact with environmental and
behavioral risk factors, such as diet and
physical activity.
Family History
• Family health history is a written or graphic
record of the diseases and health conditions
present in your family.
• A useful family health history shows three
generations of your biological relatives, the
age at diagnosis, and the age and cause of
death of deceased family members.
Family History
• Family history reflects individuals’ genes and
the behaviors and environmental factors they
share with their family members.
• Family history is a risk factor for many chronic
diseases
• Having a close family member with a chronic
disease can increase your risk of developing
that disease
Family History
• People who have one or more parents, siblings, or children
with diabetes are 2 to 6 times more likely to have the
disease than are people with no affected relatives. (CDC
2011)
• Family history is also an established risk factor for CVD. In
one large study, the 14% of families that had a known
family history for heart disease accounted for 72% of cases
of early heart disease (before age 55). (CDC 2011)
• Strong evidence shows that youth with a family history of
CVD and diabetes already show signs of the diseases. (CDC
2011)
Genetic and genomic Testing
• Researchers have developed genetic tests for
more than 2,200 diseases. (CDC 2011)
• Most tests look at single genes and are used to
diagnose rare genetic disorders, such as fragile X
syndrome.(CDC 2011)
• A growing number of tests look at multiple genes
that may increase or decrease a person’s risk for
common diseases, such as cancer or diabetes
(CDC 2011)
• Cost range from under $100 to more than $2,000,
depending the test (NIH 2012).
Genetic Testing
• Prospective parents may choose to be tested
for certain genetic diseases to see if they are
carriers.
• Parents may choose to identify and eliminate
genetic defects in embryos created through in
vitro fertilization (IVF) before pregnancy.
• All newborns are screened for 30 core
disorders and 26 disorders
Genetic Testing
• Positive
- Help to detect diseases earlier
- Can help to prevent children from inheriting
diseases from their parents.
• Negatives
- Designer Babies?
- Genetic discrimination
Prevention
• Know Family History
• Get tested for diseases that run in the family
• Take care of yourself, exercise and eat the
health foods
• Genes are only one factor that contributes to
sickness and disease
Research
• The Human Genome Project
• Population based research collects and
analyzes human genetic data to help know
more about the causes and effects of diseases
for large groups of people
• Study of alleles and mutations of genes
• Epigenetics
Public Health
• Public health genomics is a multidisciplinary field focused on the
effective and responsible translation of genome-based knowledge
and technologies into public health and clinical practice to improve
population health.(CDC 2011)
• Vision:
To use genomic knowledge to prevent disease and improve health
across the life stages.
• Mission:
To integrate genomics into public health research, policy, and
programs.
• Goals:
To improve public health interventions of diseases of major public
health importance, including chronic, infectious, environmental,
and occupational diseases
Research
• Human genome epidemiology (HuGE) examines
the role of genetics in disease and health and
helps to identify links between genes and other
factors, such as diet and environmental
exposures, in populations
• Research in these areas can help us understand
which populations might be more likely to
develop disease as well as design interventions to
improve treatment and health outcomes.
Translational Research
• Genomic translational research goal is to ensure
that genomics knowledge and applications are
safely and appropriately incorporated into
prevention practices so individuals and
populations can benefit. (CDC 2011)
• The Evaluation of Genomic Applications in
Practice and Prevention (EGAPP) initiative test a
systematic, evidence-based process for evaluating
genetic tests and other applications of genomic
technology
Translational Research/ Phases
• Phase 1 (T1) research seeks to move a basic genomebased discovery into a candidate health application
• Phase 2 (T2) research assesses the value of a genomic
application for health practice leading to the
development of evidence-based guidelines.
• Phase 3 (T3) research attempts to move evidencebased guidelines into health practice, various types of
research.
• Phase 4 (T4) research seeks to evaluate the “real
world” health outcomes of a genomic application in
practice. (CDC 2011)
Translational Research
• Family History Education to Improve Genetic Risk Assessment for
Cancer
• Promoting Cancer Genomics Best Practices through Surveillance,
Education, and Policy
• Oregon Genomics Surveillance Program: Translation of Genomics
Applications into Health Practice
• Planned a program to educate health care providers about the
benefits of documenting patients’ family histories, identifying
family history factors considered high risk, referring patients to
genetic consultation, and using genetic testing.
Examples
• BRCA1 and BRCA2 are breast cancer genes
• Women with variations of these genes may have
an increased risk for some types of breast and
ovarian cancer
• BRCA testing looks for these variations, which
help health care providers understand a person’s
risk for getting these cancers.
• Using the BRCA guidelines researchers help to
determine treatment practices.
Resources
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http://www.cdc.gov/genomics/famhistory/index.htm
http://www.cdc.gov/genomics/about/AAG/index.htm
http://www.cdc.gov/genomics/resources/publications.htm
http://www.cdc.gov/genomics/gtesting/EGAPP/index.htm
http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorde
rs/
• http://ghr.nlm.nih.gov/handbook/testing/costresults
• http://www.eeoc.gov/laws/types/genetic.cfm
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