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genomics and life course theory

Terms in this set (45)

popular culture and for-profit genetics
-Open access science
-Crowdsourced from surveys combined with genetic info
-Interesting findings; limited clinical significance
•Ethics
--Catch 22: no treatment for what you might find
--DNA from a criminal was linked to a sibling
--Children given up for adoption
--Questionable lab and privacy practices
23 and me
$99
-FDA approved for 10 different genetic risk tests
-fun facts about how DNA influences appearance, preference and physical responses
-health predisposition and carrier status (+$100)
-ancestry/genealogy: general location
ancestry.com
($59-99)
-more comprehensive ancestry/background and genealogy
-including historical references about migration, likely origin and path
-health risks summary (+$70)- not FDA approved
genetic information nondiscrimination act (GINA)
-Protections might ease concerns some patients have when considering genetic testing or participating in research
-Enacted (2008) to protect against the use of genetic information to discriminate in health insurance and employment
-Some states have more protections (CalGINA
GINA: types of protected genetic information
-family medical history
-carrier testing: ex- cystic fibrosis, sickle cell anemia, spinal muscular atrophy, fragile X, and other conditions
-prenatal genetic testing: ex- amniocentesis, chorionic villus sampling, and other techniques
-presymptomatic and predispositional testing: ex- BRCA testing for breast cancer risk, testing for Huntington's disease, or testing for HNPCC for colon cancer risk
-analysis of tumors or other assessments of genes, mutations, or chromosomal changes
GINA restricted practices- employers and health insurers may not...
employers may not
-Request, require, or purchase genetic information about employees or their family members
-Use a person's genetic information in decisions about hiring, firing, job assignments, compensation, or promotions

health insurers may not:
-use a person's genetic information to set eligibility requirements or establish premium or contribution amounts
-request or require that a person undergo a genetic test
what GINA does NOT do
-Protect information about current health status or disease simply because it is genetic, if the disease is already manifested and diagnosed
-Apply to life, disability, or long-term-care insurers
--if you have the BRCA1 or 2 or Alzheimer's genes it may be more difficult to get life insurance.
-Apply to TRICARE (military, federal, and VA)
-Protect certain groups, including:
--Employees in organizations with fewer than 15 employees
--members of the United States military;
--veterans obtaining health care through the Veteran's Administration;
--individuals using the Indian Health Service; or
--federal employees enrolled in the Federal Employees Health Benefits program (FEHB).
-Apply to sectors outside of employment and health insurance, such as:
--Education - Chadham's middle school case
--Housing
--Health care??
describe genetics
the study of heredity or how the characteristics of living organism are transmitted from one generation to the next
-Generally focuses on the functioning and composition of individual genes (think Mendelian traits)
-Genes are the basic physical and functional units of heredity
-Genes are specific sequences of bases that encode instructions for how to make proteins
-Genes comprise about 2% of the human genome; the remainder consists of non-coding regions
genetic code: DNA
-DeoxyriboNucleic Acid (DNA) contains all the information necessary to make a complete organism.
-DNA is composed of combinations of 4 nucleotides
genomics
The study of an organism's complete set of genes, including the components of DNA that influence the translation and transcription of genes
-All genes in an organism
-Non-coding regions (introns) of DNA
-Gene by gene interactions
epigenomics
study ofmolecular signals that tell the genome how to behave and their relationship to health
exposomics
study of how all the exposures that an organism is exposed to alter health
-Exposures can be chemical, biological, psychosocial, and other environmental stimuli that alter the expression of genes, often through epigenetic mechanisms
genomics and impact on public health
'How might we' reduce risk if you have the gene for disease or disorder?
-Minimize the negative environmental impact of second hand smoke with laws and policy to protect workplaces- most at risk are those with several lung cancer/COPD/CVD/DM genes
-Minimize the risk of developing spina bifida, cleft palate and heart defects if you have genes that predispose you-- fortify foods with folic acid/supplements for pregnancy

Assess/determine/identify the relationship between genetic & environmental factors

Now and more so in the future we will likely have precision medicine where your individual genome will be targeted and individualized health promotion programs will be developed.

But to promote the larger population's health- public health policy and strategies to promote the default as the healthiest(nudge) for all.
genotype
The molecular structure of an organism, e.g. one individual's DNA
-Ancestral inheritance or mutation causes differences between individuals:
--A single nucleotide
--Number of copies of a coding sequence
--Number of chromosomes
-Expressed via the production of proteins
describe phenotype
The observable characteristics of an organism, e.g. the presentation of DNA
-Based on the genotype, but can also be altered by the environment through:
--Epigenetic modifications
--Lack of protein binding sites or carriers
--Lack of amino acids to code certain proteins
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