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Genomics. Erik Haley Chronic Diseases 4/1/13. Genomics. Public Health Genomics focuses on the application of genomic research to health benefits. Genomics plays a role in 9 of the 10 leading causes of death in the US- most in cancer or heart disease

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genomics

Genomics

Erik Haley

Chronic Diseases

4/1/13

genomics1
Genomics
  • Public Health Genomics focuses on the application of genomic research to health benefits.
  • Genomics plays a role in 9 of the 10 leading causes of death in the US- most in cancer or heart disease
  • One of the main risks for heart disease is familial hypercholesterolemia – a family condition that results in high levels of bad cholesterol
genetics of humans
Genetics of Humans
  • Humans have approximately 29,000 genes but this only amounts to about 2% of the genome
  • The remaining DNA is either non-coding introns, transposable elements, regulatory sequences or a variety of other elements
  • Of the known proteins in the human body, only half have a well known function
epigenetics
Epigenetics
  • Epigenetics involves looking at environmental or developmental factors that influence gene expression
  • Methods of modifying DNA expression include histone modification, methylation, non-coding RNA interference – all of which help reprogram the genome during embryogenesis
  • This reprogramming is essential for cell differentiation – understanding how it occurs can allow deprogramming
family history
Family History
  • People who have a family member with a chronic health condition have an increased risk of developing the disease
  • A good record of family history would contain three generations of family members, ages and causes of death and age of diagnosis for any chronic diseases
  • Family Health Portrait Website: https://familyhistory.hhs.gov/fhh-web/home.action
genetic testing
Genetic Testing
  • Currently, there are over 2000 genetic tests available at clinical settings. Most diagnose rare genetic disorders such as duchenne muscular dystrophy.
  • Research is trying to develop tests that will measure an individual’s risk factors for chronic diseases or response to medicine
genetic testing drawbacks
Genetic Testing- Drawbacks
  • Most genetic testing available now has limited use due to the genetic components for many chronic diseases being unknown.
    • Effective testing mostly for uncommon ailments
  • Many genetic tests are misused due to premature marketing
    • Evaluation of Genomic Applications in Practice & Prevention
  • Some genetic tests for hereditary cancers not effectively implemented into practice
genetic testing1
Genetic Testing
  • One of the main fears of genetic testing is the possibility of genetic discrimination
  • In 2008, the Genetic Information Nondisclosure Act was put into practice to prevent discrimination in both employment and insurance on the basis of genetics
  • The Affordable Care Act also prohibits variation of insurance premiums based on disease or genetics
perinatal genomics
Perinatal Genomics
  • Pre-conception genetic screening is currently available that can identify inheritable conditions before a child is conceived as well as pre-implantation genetic screening
  • Pre-implanatation screening can lead to parents selecting which embryo to implant via in vitro fertilization
  • Newborn screening involves a genetic screen for several conditions upon birth – amount varies by state
autoimmune diseases
Autoimmune Diseases
  • Most autoimmune diseases, including Diabetes Type 1 and Rheumatoid Arthritis, have a genetic component
  • Over 200 genetic loci have been linked to autoimmune disorders- no causal information has been currently identified
  • Most genetic factors carry moderate risk but are involved with other environmental factors- cannot use genomics alone
gene therapy
Gene Therapy
  • Gene therapy involves replacing a harmful mutant gene with an accurate copy using a viral vector
  • Currently, no gene therapy programs have FDA approval, yet over 2000 clinical trials were performed within the last 5 years
  • Additional use for gene therapy is to treat cancer by having an oncolytic virus insert a sequence that leads to cell death
gene therapy techniques
Gene Therapy Techniques
  • One method of gene therapy is to insert proper alleles to replace mutant forms – nonsense mutants (early stop codon) can also be repaired by inserting a random amino acid into the mutation site
  • Alternative methods include using miRNA to silence certain genes by preventing transcription or changing splice sites of the pre-messenger RNA
gene therapy drawbacks
Gene Therapy- Drawbacks
  • One of the drawbacks of using viral vectors is non-specific insertion into a cell – one 2002 case had 25% insert before a proto-oncogene leading to leukemia
  • Many cancer cells contain an over-expression of surface proteins found on normal cells – normal cells can uptake oncolytic viruses leading to tissue death
regeneration
Regeneration
  • Genetic analysis of newts and zebrafish determined that they are able to re-grow limbs by using highly proliferative muscle, cartilage, neural cells
  • In humans, Rb protein and ARF prevent muscle cells from continuing mitosis- RNAi was shown to relieve this blockade
  • Risks for such a procedure involve an higher risk for cancer in cells with mitotic controls inhibited
gene mapping
Gene Mapping
  • The 1000 Genomes Project published a map of the variation in the human genome to show differences in disease risk and physical attributes
  • The project results showed that common mutations were global while rarer ones are often limited to ethnic groups/nations
  • Limited use – no phenotype data and population size
health equity
Health Equity
  • One of the hopes of genomics is that it will help reduce the inequality of health care between racial and ethnic groups
  • However, genomic data has shown that there is little difference between groups compared to within groups; many variants have low risk factors
  • Genomic information may be helpful by providing better information about who should receive specific treatments and the size of the expected benefit
state participation
State Participation
  • Currently, only four states have health departments that have integrated genomic knowledge into chronic disease prevention problems (MI, MN, OR, UT)
  • Many more states have programs to analyze newborn infants and education/awareness programs
human genome epidemiology network
Human Genome Epidemiology Network
  • OPGH established the HuGE network to help translate genetic research findings into opportunities for preventative medicine
  • HuGE is currently a network containing scientific research data as well as synthesis of new research projects and translation of results to humans
  • http://hugenavigator.net/HuGENavigator/home.do
value
Value
  • The current benefit from genetic testing remains small – genetics only plays a small role in many chronic diseases and few therapies exist to treat disease
    • Whole genome sequencing fails to predict risk of most common diseases
  • Ideally, genomics can reveal areas for possible interventions to take place – ie. B and T cell inhibitors for patients who show autoimmune disorders
  • Unfortunately, most genetic information about chronic diseases is very limited
slide22
Cost
  • Pharmaceutical companies have used genomic strategies for drug development but this has normally not led to late- stage development
  • Cost of therapeutic development has tripled since 1990 while the number of FDA approved drugs per year remains constant – many drug failures after investment
  • Drug companies often work with academia or government to increase effectiveness of produced drugs
future plans
Future Plans
  • One of the largest gaps in genetic research is why individuals respond differently to drugs and treatment
  • CDC’s Office of Public Health Genetics has the following goals for 2013:
    • Integrate evidence based genomic applications into public health
    • Evaluate genomic tests to identify opportunities to improve health/transform healthcare
    • Develop and provide communications about public health genomics to various audiences
sources
Sources
  • CDC Genomics: http://www.cdc.gov/genomics/about/AAG/index.htm
  • Targeting DNA: http://www.commed.vcu.edu/Chronic_Disease/genetics/2013/clinicalintervention.pdf
  • Epigenetics: http://www.commed.vcu.edu/Chronic_Disease/genetics/whatisepigenetics.pdf
  • Genome Sequencing Failures: http://www.commed.vcu.edu/Chronic_Disease/genetics/2013/practicalgenetics.pdf