Genomics and Life Course Theory

Question 1

Eugenics

Answer 1

Medically inaccurate theory that humans can be improved thru selective breeding
- prejudiced and wrong understanding of Mendelian genetics that claimed abstract human qualities (intel and social bx) were inherited in a simple fashion

Question 2

What did implementation of eugenics lead to

Answer 2

widespread harm esp in marg pop and still worldwide harm

Question 3

Human genome project ethical concerns

Answer 3

• inc concern about ability to elim some genes and genetic risk score
• ethical concerns with IVF, preimplantation testing of genetic dx, prenatal screenings

Question 4

How to address ethical concerns with the Human Genome project

Answer 4

• Ntl human genome research institute
• address struc racism and eugenics-based ideas
• encourage inclusion

Question 5

Examples of historical misuse

Answer 5

• Henrietta lacks cells taken w/o permission for use in research to make HeLa cells (first immortal cell line)
• Fake vax given to collect DNA to track Osama bin laden in Pakistan

Question 6

How to make treatments without bias?

Answer 6

• close evidence gaps around underserved and diverse pops
• ensure genomic mod apps are unbiased and equitably accessible
• build workforce and infrastructure to make widespread adoption of strategies possible

Question 7

Health inequities w/i genomics

Answer 7

• exclude marg pops or force to incl against their will
• genetic info/knowledge based on 1 pop (European) and look at who is excluded
• address historical misuse of DNA
• address social determinants of health
• education on bio and non-bio understanding of health

Question 8

For profit comm entities like 23 and me

Answer 8

• open assess to sci but some not FDA approved
• limited clinical significance

Question 9

Where does 23 and me get its info

Answer 9

crowdsourced from surveys combined with genetic info
- unregulated

Question 10

Ethics of 23 and me

Answer 10

• catch 22 - no tx for what you find
• DNA from crime scene linked to sibs
• children given up for adoption
• questionable labs and privacy practices

Question 11

Genetic info nondiscrimination act

Answer 11

2008
Protects against use of genetic info to discrim in health insurance and employment

Question 12

Benefit of GINA

Answer 12

Protects patients from concerns they might have when considering genetic testing or participating in research
- ppl used to fear moral discrim

Question 13

Do all states have the same protections with GINA?

Answer 13

No, some states like Ca have more

Question 14

Types of protected info

Answer 14

• fam medical hx
• carrier testing - CF, SCA, fragile X
• newborn screen post birth
• prenatal genetic testing (chorionic villus sample, amniocentesis)
• presx and predis testing - BRCA
• analysis of tumors or other assess genes, mutations, chromosome changes

Question 15

What CAN’T employers do under GINA?

Answer 15

• request, require, purchased genetic info about employees or fam
• use genetic info in decisions about hiring, firing, job assignment, compensation, promotion

Question 16

What CAN’T health insurers do with GINA

Answer 16

• use genetic info to set eligibility requirements or establish premium or contribution amounts
• request/require a person to do genetic testing

Question 17

GINA does not

Answer 17

• protect info about current health or disease if it is already symptomatic
• apply to life, disability, LTC insurers (can be harder to get life insurance with BRCA)
• apply to Tricare
• protect groups like orgs with under 15 emps, US mil, VA vets, indian health services, fed emp health benefits program
• apply to sectors outside employment and health issues like edu discrim and housing

Question 18

1962 in genetics

Answer 18

Genetics have nursing edu priority

Question 19

1998 in genetics

Answer 19

ANA add genomics to nurse scope of practice

Question 20

2003 in genetics

Answer 20

Complete Human Genome Project

Question 21

Role of genomics in nursing practice

Answer 21

• be able to support and edu pt to get resources for genetics
• risks
• advise clinical tests on onc, PMH, reprod, pain manage/anesthesia

Question 22

Genetics

Answer 22

study heredity and transmission across gens

Question 23

Genome

Answer 23

total genetic makeup of an org
- incl non-coding areas of DNA

Question 24

DNA

Answer 24

contins all info for dev/fxn of org
- made up of nucleotide subunits: A-T, C-G base pairs

Question 25

Single nucleotide polymorphism (SNP)

Answer 25

- single base sub in DNA that can chx what pro is made by a gene (coding SNP) or how much pro is made by a gene (non-coding SNP)

Question 26

Genotype

Answer 26

Molecular struc of an org (DNA) - expressed via prod of proteins - ancestral inheritance or mutation causes diff btwn inds (#chr, single nucleotide, # copies of coding sequence)

Question 27

Phenotype

Answer 27

- obs char of org - altered by enviro with epigenetic mods, lack pro binding site/carrier, lack AA to code for some pro, misfold pro

Question 28

"omics"

Answer 28

Study how specific components of genome fxn and interact OR how ext infl alter the fxn of the genome

Question 29

epigenomics

Answer 29

study of molecular signals that tell the genome how to bx and their relx to health

Question 30

exposomics

Answer 30

study of how exposures of an org alters its health - chem, bio, psychosocial, other enviro stim that alter gene mechs

Question 31

the exposome

Answer 31

3 domains of the lifespan that create health risk and impact assess - general external, specific external, internal - impact phenotype

Question 32

General ext enviro

Answer 32

Urban enviro, climate, social capital, sys racism, pollution, sunshine

Question 33

Specific ext enviro

Answer 33

Specific contaminants, diet, phys activity, tobacco, infx, owning a dog

Question 34

Internal enviro

Answer 34

Internal bio fx like metabolic fx, receptor sites, gut microflora, inflam, oxidative stress

Question 35

Complex disease phenotype pathway

Answer 35

Changes how genes are expressed - occurs thru combo of genetics, enviro exposures, epigenetic mods - DNA is NOT destiny

Question 36

Epigenetics

Answer 36

non-genetic influence on gene expression - on/off switch for gene expression/protein coding PRN for survival - enviro exposure alters epigenetic markers

Question 37

Order of complex disease pathway

Answer 37

genetic sus-->exposome-->epigenome-->inc disease

Question 38

Examples of epigenetic modifications

Answer 38

- telomere shortening - DNA methylation - histone mods - transcriptional silencing

Question 39

Histone modification

Answer 39

How tightly DNA is coiled around support structures - looser, more available for transcription to occur

Question 40

DNA methylation

Answer 40

methyl mol attaches to nucleotide that RNA binds to and transcription can't begin so protein can't be expressed - phenotype varies btwn methylated and unmeth gene even if genotype is the same

Question 41

What may interrupt disease pathos?

Answer 41

Gene therapy, meds, dec exposure

Question 42

Most epigenetic markers are...

Answer 42

Inherited - "non-gen" inheritance bc DNA sequence does not change - occurs shortly after fert and from mother - may explain some of how disease runs in fam

Question 43

Main epigenetic fxn

Answer 43

Cause some genes to be dormant and others to be active (expressed)

Question 44

Nature

Answer 44

Epigenetics are inherited just after fert - allows cell specialization

Question 45

Nurture

Answer 45

Exposures can cause epigen mods to let orgs adapt to enviro - survival mech - nutrition, pollution, metab, social stress, exercise, sleep hygiene, violence, poverty

Question 46

Public health interventions for epigenetics

Answer 46

- ID relx in genetic/enviro fx - tell ppl of risk and how to mitigate - minimize neg exposure and encourage healthy bx (smoke free laws, enhance walkability of enviro) - precision meds target specific genetic rf