genomics and life course theory

Question 1

eugenics

Answer 1

scientifically inaccurate theory - early 20th century
planned breeding, scientific racism, erroneous, immoral
humans can be improved and perfected through selective breeding
prejudiced and incorrect understanding of menedlian genetics: abstract human quality inherited in simple fashion, complex diseases and disorders are solely outcomes of genetic inheritance

Question 2

eugenics: biological determinism

Answer 2

human behavior directly controlled by genes
some groups are inherently better -> involuntary sterilization, segregation, social exclusion, slavery
caused widespread harm -> especially marginalized pops

Question 3

eugenics: present day

Answer 3

not fringe movement -> effects still seen today
started in late 1800s -> racist and xenophobic
still exists today
big concern as genetic screening tech advances and actions are taken as result (terminate preg): IVF, preimplantation genetic dx, prenatal screen
involuntary sterilization, forced institutionalization, social ostracization, stigma

Question 4

eugenics: present day - prevent

Answer 4

address structural racism and other issues
understand and engage with history to create more inclusive and humane future
ELSI research program -> ethical, legal, social issues

Question 5

health equity in genomics

Answer 5

hx conducted with european descent -> may not be effective in other pops (SDOH limit)
not race, no racial markers -> SNPs from those with similar geographic ancestry
hx misuse of DNA: HELA cells, fake vax for DNA in pakistan (osama)
SDOH and genetic tech: access, cost, medical mistrust
need to correct wrongs of past to improve future

Question 6

health equity in genomics: moving forward

Answer 6

health influenced by bio and non bio factors in all pops
need equal, effective, affordable access to genomic advancements for everyone

Question 7

health equity in genomics: moving forward - requirements

Answer 7

need funders, researchers, providers, and others to…
close evidence gaps among diverse and underserved pops and research
ensure genomic med apllications are unbiased and equitably accessible
build workforce and infrastructure to make widespread adoption of these strategies possible

Question 8

ELSI

Answer 8

ethical, social, legal implications

Question 9

pop culture and for profit genetics

Answer 9

open access science, crowd sources from surverys combo with genetic info
public data, research findings, internal data
interesting findings, limited clinical significance

Question 10

pop culture and for profit genetics: ethics

Answer 10

catch 22: no tm for what you may find, whereas some testing like newborn screening provides clear benefit
DNA and crime scenes, children given up, questionable lab and privacy practices
own your personal data -> unregulated data, cant control what happens to yours

Question 11

23 and me

Answer 11

10 genetic risk rests
fun facts of how DNA influences appearance, pref, phys responses
health predispositions and carrier status
ancestry/genealogy (general location)

Question 12

ancestry.com

Answer 12

more comprehensive ancestry/background and genealogy
historic references about migration: likely origin and path
health risk summary not FDA approved

Question 13

genetic info non discrimination act

Answer 13

protections might ease concerns of some
protect against use of genetic info to discriminate in health insurance and employment
some states have more protections

Question 14

genetic info non discrimination act: types of protected genetic info

Answer 14

fam med history
carrier testing, prenatal, presymptomatic and predispositional, analysis of tumors or other assessments of gene mutations or chromosomal changes

Question 15

genetic info non discrimination act: restricted practices - employers

Answer 15

cannot:
request or require genetic tests
purchase genetic info about employees or fam
use genetic info in decisions of hire, fire, job assignments, compensation, promotion

Question 16

genetic info non discrimination act: restricted practices - insurers

Answer 16

cannot:
set eligibility req or est premium or contribution amounts
request or require genetic test

Question 17

genetic info non discrimination act: limitations

Answer 17

does not:
protect info about current health status or disease if already manifested and diagnosed
apply to life, disability, long term care insurers: BRCA 1/2, AD genes -> may be harder to get life insurance
apply to TRICARE (military, fed, VA)
protect certain groups: employes in organization w <15, US military, vets with healthcare through VA, those using Indian health services, fed employees in FEHB
apply to sectors outside of employment and health insurance: education, housing, healthcare (access or standard of care)

Question 18

genomics in nursing practice

Answer 18

becoming increasingly important in healthcare
1962: genomics nursing education priority
1998: genetics/genomics part of scope of practice
2003: human genome project

Question 19

precision health era

Answer 19

direct to consumer genetic testing
clinical genetic testing: oncology, pain manage/anesthesia, psych and MH, reproductive health, OB

Question 20

genetics

Answer 20

The study of heredity and the transmission of
characteristics from across generations

Question 21

gene

Answer 21

The most basic physical and functional units of heredity.
Genes are specific sequences of nucleotide bases that encode
instructions for how to make proteins

Question 22

genome

Answer 22

Total genetic makeup of an organism
* Includes non-coding regions of DNA (~98% of the genome)
* ~20,000- 25,000 genes in a genome, which is about 5% of the
total DNA.

Question 23

DNA

Answer 23

instruction manual
DeoxyriboNucleic Acid (DNA): double stranded
structure that contains all information for
development and functioning of an organism

Question 24

nucleotides

Answer 24

The subunit that comprises DNA.
* Adenine (A)
* Thymine (T)
* Cytosine (C)
* Guanine (G)

Question 25

Single Nucleotide Polymorphism (SNP)

Answer 25

A single base substitution in DNA. * ~10 million SNPs in the entire genome * Some SNPs can change what protein is produced by the gene; others can affect how much protein is produced by the gene.

Question 26

genotype

Answer 26

the molecular structure of an organism (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

Question 27

phenotype

Answer 27

The observable characteristics of an organism (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 * Misfolding of proteins

Question 28

- omics

Answer 28

study of how specific components of genome function and interact or how external influences alter the function of the genome

Question 29

epigenomics

Answer 29

study of molecular signals that tell the genome how to behave and their relationships to health

Question 30

exposomes

Answer 30

study of how all exposures of an organism alter its health exposures = chm, bio, phys, env -> alter gene expression via epigenetic mechanisms

Question 31

exposome

Answer 31

external env general: urban env, climate, social capital, systemic racism specific external env: containment, diet, phys, activity, tobacco, infections internal env: met, gut micro, inflam, oxidative stress

Question 32

complex disease phenotype pathway

Answer 32

combo of: genotype -> genetic susceptibility at DNA level, DNA does not = destiny, but big factor exposures -> expsome, environment epigenetic modification -> interactions btw env and genes disease

Question 33

epigenetics

Answer 33

non genetic influences on gene expression on/off switch for gene expression/protein coding get under skin

Question 34

mechanisms of epigenetics

Answer 34

DNA methylation: methyl blocks transcription, not protein, phenotype differs even though genotype same histone modification (coiled tightness) transcriptional silencing telomere shortening

Question 35

most epigenetic markers inherited

Answer 35

non genetic inheritance: mech through which patterns of disease run through fam; shortly after fertilization, mostly from mom env exposures can alter markers: on/off to increase survival, gene therapies, meds, decrease exposures may interrupt disease pathways

Question 36

epigenetics: keep some genes silent and others expressed

Answer 36

nature: epigenetics from mom, allows cellular specialization nurture: exposures can cause epigenetic modification to allow adaptation to env

Question 37

how can public health address susceptibility

Answer 37

assess/determine/identity relationships btw genetic and env factors inform people of their risks and ways to mitigate decrease negative exposures (smoke free laws) support healthy behaviors (policies and env) precisions med targeting specific genetic info

Question 38

lifecourse theory

Answer 38

attempt to explain how life contexts shape health, behavior, dev (stages v cumulative) experiences and exposures cumulative -> holistic early life contexts, including fetal, may cause profound shifts in bio and behavior into old age risk and protections transmitted across gen and pop multidisciplinary paradigm

Question 39

barker hypothesis

Answer 39

fetal origins of health and disease adverse fetal life context = increased r/o adult disease early programming impacts gene expression through epigenetic changes grandchildren also affects -> F eggs why? -> prioritize immediate survival in womb over long term health

Question 40

why are grandchildren also affected?

Answer 40

intergenerational transmission: blame women, increased exposure to toxins placental function controls every aspect of fetal exposure and can prime or program fetal tissues to adapt to perceived extra uterine env

Question 41

role of public health in lifecourse theory

Answer 41

increase health of childbearing persons recognize and intervene in pops at elevated risk interventions for lbw or those exposed to low nutrition in early preg

Question 42

what about stress

Answer 42

stress = body's response to changing factors in self or env stressor = internal or external responses to acute (short term) can be adaptive and increase survival allostasis = adapt to predictable and unpredictable change in env, acute; chronic stress: wear and tear on regulatory systems, >6 mo cumulative stress leads to weathering, gradual degradation in health: explains social patterning of health and disease, inequality gets under skin allostatic load: prioritize survival over long term care, cost of chronic exposure to elevated or fluctuating endocrine or neural responses resulting from chronic or repeated challenges that individual experiences as stressful

Question 43

lifecourse health dev

Answer 43

comprehensive model of trajectory of health dev across life course accounts for genetic, bio, phys, social contexts

Question 44

stressed v very stressed

Answer 44

increased CO, gluc, enhanced immune, growth or neurons in hippocampus and prefrontal cortex stressed out: htn, cvd, insulin intol, insulin resist, infection and inflam, atrophy and death of neurons in hippocampus and prefrontal cortex

Question 45

toxic stress

Answer 45

poverty and adverse childhood events ecobiodev model domains of stress response: + -> contributes to growth tolerable -> short lived, no long term harm toxic -> severe or chronic response, l/t toxic effects on brain, altered behavior, maladaptive responses, often result of adverse childhood events or poverty

Question 46

ACE

Answer 46

#, not severity or freq, no focus on buffers to decrease toxicity traumatic experience, <18, remember score, 10 Q's lasting effects: health, behaviors, life potential coping with: maladaptive, their solution is actually a problem to others, dismissing coping devices as bad habits or self destructive misses their origin source, look into this to treat

Question 47

ACE: intervene

Answer 47

prevent! -> policies replace maladaotive, ehacne social support, address sources of trauma - therapy decrease stigma -> shame increases escalation and use of behavior

Question 48

ACE: life outcomes

Answer 48

dose response: increased exposure = increased adverse outcomes group aggregates, dont speak to individual destiny dont have to dictate life story: protective factors (buffers) build resilience -> decrease R buffers: nurturing adult, positive relationships, counseling, mindfulness

Question 49

ACE: public health - foster understanding as PH crisis

Answer 49

s of adverse env, intergenerational trauma edu, social support, trauma informed care -> build resiliency and buffers

Question 50

ACE: public health - build support for addressing ACE through hc

Answer 50

need to edu hc workforce about SDOH and ACE impacts CTIPP -> promote policies and programs informed by science of ACEs and trauma

Question 51

ACE: public health - increase system capacity

Answer 51

need trauma informed care and prevention

Question 52

ACE: public health - create policies to foster cross sector care coordination

Answer 52

decrease burden and trauma, tell story over and over

Question 53

ACE: public health - collab and alignment across sectors and systems

Answer 53

isolated communication have to piecemeal solutions even when we have evidence of what works need for a roadmap, helps vulnerable comm align across sectors and systems