w4 Flashcards
Phenotype vs Genotype
_______– the molecular structure of an organism, one individual’s DNA
- Differences between individual’s DNA (single nucleotide, number of copies of a coding sequence, number of chromosomes) is from ancestral inheritance or mutation
- Expressed via the production of proteins
_______ – the observable characteristics of an organism, the presentation of DNA
- Based on genotype but can be altered by the environment through: epigenetic modifications, lack of protein binding sites/carriers, lack of amino acids to code certain proteins, misfolding proteins
Genotype – the molecular structure of an organism, one individual’s DNA
- Differences between individual’s DNA (single nucleotide, number of copies of a coding sequence, number of chromosomes) is from ancestral inheritance or mutation
- Expressed via the production of proteins
Phenotype – the observable characteristics of an organism, the presentation of DNA
- Based on genotype but can be altered by the environment through: epigenetic modifications, lack of protein binding sites/carriers, lack of amino acids to code certain proteins, misfolding proteins
models used in epidemiology: epidemiological triangle
- bidirectional arrows indicating the impact can move both ways
- disease occurs when an _____ is present, in a susceptible _____, under _______ conditions favorable to the development of disease, and a vector
- changes in one component of the triangle can influence whether the disease occurs or not
- does this model work well with communicable and infectious diseases?
- does this model work well with chronic disease and mental illness?
- bidirectional arrows indicating the impact can move both ways
- disease occurs when an agent is present, in a susceptible host, under environmental conditions favorable to the development of disease
- changes in one component of the triangle can influence whether the disease occurs or not
- YES - this model works well with communicable or infectious diseases
- NO - this model doesn’t work well with chronic disease and mental illness b/c the focus is too narrow
common data sources in epidemiology:
-data collected for other reasons
-routinely collected
-epidemiologic data
___________ - data collected on a regular base (ex: US census)
___________ – data collected specifically for epidemiologic purposes (ex: scientific studies)
___________ - (ex: info gathered from providers, hospitals, health dept, insurance records, etc.)
common data sources in epidemiology
- routinely collected - data collected on a regular base (ex: US census)
- epidemiologic data – data collected specifically for epidemiologic purposes (ex: scientific studies)
- data collected for other reasons (ex: info gathered from providers, hospitals, health dept, insurance records, etc.)
sensitivity vs specificity
__________ – ability of test to correctly identify those with the disease (true positive rate)
__________ – ability of a test to correctly identify those without the disease (true negative rate)
sensitivity – ability of test to correctly identify those with the disease (true positive rate)
specificity – ability of a test to correctly identify those without the disease (true negative rate)
risks/odds vs rate
________ – mathematical expression, represents the frequency which an event occurs in a defined population during a specific time period
- measures the occurrence of event
- determines how likely an event will occur
_________ – the chance of something happening
risks/odds vs rate
rate – mathematical expression, represents the frequency which an event occurs in a defined population during a specific time period
risks and odds – the chance of something happening
false negative vs false positive
_________– negative test even though they have the disease
_________ – positive test even though they don’t have the disease
false negative – negative test even though they have the disease
false positive – positive test even though they don’t have the disease
Exposomics
Omics
Epigenomics
_________ – study how specific components of the genome function/interact or how external influences alter the function of the genome
__________– study of molecular signals that tell the genome how to behave and their relationship to health
_________– study of how all the exposures of an organism alter its health
- Can be chemical, biological, psychosocial, or other enviro stimuli that alter the expression of genes
Omics – study how specific components of the genome function/interact or how external influences alter the function of the genome
Epigenomics – study of molecular signals that tell the genome how to behave and their relationship to health
Exposomics – study of how all the exposures of an organism alter its health
- Can be chemical, biological, psychosocial, or other enviro stimuli that alter the expression of genes
____________
- Protection related to genetic testing or research participation
- Protection against the use of genetic information to discriminate in health insurance and employment
GINA
Genetic information nondiscrimination act
Health equity (in the context of genomics)
- Requires an understanding of how health is influenced by biological and non-biological determinants of health in all populations
- Creates equal and effective access to genomic advances in health care for all
- Must close gaps among underserved populations
- Must ensure genomic medicine application are unbiased and equal
- Must ensure adoption of these strategies are possible
Health equity (in the context of genomics)
- Requires an understanding of how health is influenced by biological and non-biological determinants of health in all populations
- Creates equal and effective access to genomic advances in health care for all
- Must close gaps among underserved populations
- Must ensure genomic medicine application are unbiased and equal
- Must ensure adoption of these strategies are possible
Intergenerational transmission
- Female infants are born with all their eggs they will ever carry, so the _____ are exposed to intrauterine conditions as well
- Epigenetic markers inherited from mostly ______
- Placental function controls fetal exposure and can cause fetal tissue to adapt to the perceived extra-uterine environment
Intergenerational transmission
- Female infants are born with all their eggs they will ever carry, so the eggs are exposed to intrauterine conditions as well
- Epigenetic markers inherited from mostly mom
- Placental function controls fetal exposure and can cause fetal tissue to adapt to the perceived extra-uterine environment
ACE intervention
- prevention
- replace maladaptive behaviors with adaptive ones – exercise, self care
- enhancing social support networks
- addressing the sources of trauma directly through therapy
ACE and PH nursing
- understanding
- address ACE through healthcare
- increase system capacity for trauma informed care and prevention
- policies to foster cross sector care coordination
0
DNA methylation
- Methyl molecules serve as roadblocks to __________
- No protein = gene not __________ in body
- ____otype will vary between methylated and unmethylated gene even though the ____otype remains the same
Phenotype – the observable characteristics of DNA
Genotype – the molecular structure of an organism, one individual’s DNA
DNA methylation
- Methyl molecules serve as roadblocks to transcription
- No protein = gene not expressed in body
- Phenotype will vary between methylated and unmethylated gene even though the genotype remains the same
Phenotype – the observable characteristics
Exposome = all about ________
- _______ external environment – urban enviro, climate factors, social capital, systemic racism
- ________ external environment – specific contaminants, diet, physical activity, tobacco, infections
- _________ environment – metabolic factors, gut microflora, inflammation, oxidative stress
Exposome = all about exposure
- General external environment – urban enviro, climate factors, social capital, systemic racism
- Specific external environment – specific contaminants, diet, physical activity, tobacco, infections
- Internal environment – metabolic factors, gut microflora, inflammation, oxidative stress
GINA: Types of info protected or not protected?
- Protects against info about current health status or disease (genetic or non-genetic) if the disease is already manifested and diagnosed
- Applies to life, disability or long term care insurers
- Applies to TRICARE
- Protects these groups – active military or veterans, Indian health service, federal employees, organizations with less than 15 employees
- Applies to sectors outside of employment and health insurance – education, housing
not protected
models used in epidemiology: ________
- used to investigate relationships between factors r/t the who, what, where, when and why
- used to study chronic disease (CAD, obesity) b/c they have multiple interacting concepts (stress, environment, education, nutrition, etc.)
web of causation
objectives of _________:
1. who is being affected by the disorder = population
2. what determines who is affected or susceptible = determinants of health
3. where does the condition occur = distribution
4. when does the disease occur = frequency
5. why does the condition occur = disease causation
6. how can we control/prevent health problems = application
objectives of epidemiology:
who is being affected by the disorder = population
what determines who is affected or susceptible = determinants of health
where does the condition occur = distribution
when does the disease occur = frequency
why does the condition occur = disease causation
how can we control/prevent health problems = application
How can public health address genetic susceptibility:
- Identify relationship between genetic and environmental factors
- Inform people of risks and prevention
- Minimize negative exposures – smoke free laws
- Support healthy behaviors – enhance walkability to encourage physical activity in those susceptible to CVD and obesity
- Medicine targeting specific genetic risk factors
0
Gene
Genome
Genetics
________– the study of heredity and transmission of characteristics from across generations
_______ – the most basic physical and functional units of heredity
- Specific sequences of nucleotide bases that encode instructions for how to make proteins
________ – total genetic makeup of an organism
- Genes are in a genome
Genetics – the study of heredity and transmission of characteristics from across generations
Gene – the most basic physical and functional units of heredity
- Specific sequences of nucleotide bases that encode instructions for how to make proteins
Genome – total genetic makeup of an organism
- Genes are in a genome
specific external environment, general external environment, or internal?
_________
tobacco
consumer products
physical activity
diet
water
_______
transcriptomics
proteomics
metabotomics
________
climate
urban environment
traffic
social capital
green spaces
specific external environment
internal
general external environment;/
evidence-based practice
research
_________– scientific method where data is systemically collected to describe, explain, and/or predict events
__________ – the conscientious and judicious use of current best evidence to guide health care decisions
research – scientific method where data is systemically collected to describe, explain, and/or predict events
evidence-based practice – the conscientious and judicious use of current best evidence to guide health care decisions
Resiliency and the 4 core components
protective factors (nurturing adult, positive adulthood relationships, counseling, mindfulness) can build resilience and reduce risks
Improve health of childbearing people
- Nutrition
- Stress
- Exercise
- Overall health
0
commonly used rates:
specific mortality rate
- cause specific mortality rate
- sub-population specific mortality rate
morbidity or rates of disease
- incidence – ___ cases
- prevalence – ____ cases
- incidence – new cases
- prevalence – current cases
Ex of life course theory: the barker hypothesis
Adverse fetal life context leads to increased risk of adult disease
- Originally focused on baby’s weight = increased risk for adult onset disease
- Early programming impacts gene expression through _________ changes b/c body prioritizes immediate survival over long term heatlh
- Shifts in metabolic process may be an attempt to adapt the fetal body to a nutrient poor fetal environment but is then a mismatch to food-rich environments after birth
epigenetic
GINA: allows or prohibits
Employers to:
- Request, require, or purchase genetic info about employees or family
- Use a person’s genetic info in decisions about their job
Health insurers to:
- Request or require that a person undergo genetic testing
- Use a person’s genetic info to set eligibility requirements or establish premiums
prohibits