Genomics and Life Course Theory Flashcards
Eugenics
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
What did implementation of eugenics lead to
widespread harm esp in marg pop and still worldwide harm
Human genome project ethical concerns
- inc concern about ability to elim some genes and genetic risk score
- ethical concerns with IVF, preimplantation testing of genetic dx, prenatal screenings
How to address ethical concerns with the Human Genome project
- Ntl human genome research institute
- address struc racism and eugenics-based ideas
- encourage inclusion
Examples of historical misuse
- 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
How to make treatments without bias?
- 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
Health inequities w/i genomics
- 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
For profit comm entities like 23 and me
- open assess to sci but some not FDA approved
- limited clinical significance
Where does 23 and me get its info
crowdsourced from surveys combined with genetic info
- unregulated
Ethics of 23 and me
- 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
Genetic info nondiscrimination act
2008
Protects against use of genetic info to discrim in health insurance and employment
Benefit of GINA
Protects patients from concerns they might have when considering genetic testing or participating in research
- ppl used to fear moral discrim
Do all states have the same protections with GINA?
No, some states like Ca have more
Types of protected info
- 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
What CAN’T employers do under GINA?
- request, require, purchased genetic info about employees or fam
- use genetic info in decisions about hiring, firing, job assignment, compensation, promotion
What CAN’T health insurers do with GINA
- use genetic info to set eligibility requirements or establish premium or contribution amounts
- request/require a person to do genetic testing
GINA does not
- 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
1962 in genetics
Genetics have nursing edu priority
1998 in genetics
ANA add genomics to nurse scope of practice
2003 in genetics
Complete Human Genome Project
Role of genomics in nursing practice
- be able to support and edu pt to get resources for genetics
- risks
- advise clinical tests on onc, PMH, reprod, pain manage/anesthesia
Genetics
study heredity and transmission across gens
Genome
total genetic makeup of an org
- incl non-coding areas of DNA
DNA
contins all info for dev/fxn of org
- made up of nucleotide subunits: A-T, C-G base pairs
Single nucleotide polymorphism (SNP)
- 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)
Genotype
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)
Phenotype
- obs char of org
- altered by enviro with epigenetic mods, lack pro binding site/carrier, lack AA to code for some pro, misfold pro
“omics”
Study how specific components of genome fxn and interact OR how ext infl alter the fxn of the genome
epigenomics
study of molecular signals that tell the genome how to bx and their relx to health
exposomics
study of how exposures of an org alters its health
- chem, bio, psychosocial, other enviro stim that alter gene mechs
the exposome
3 domains of the lifespan that create health risk and impact assess
- general external, specific external, internal
- impact phenotype
General ext enviro
Urban enviro, climate, social capital, sys racism, pollution, sunshine
Specific ext enviro
Specific contaminants, diet, phys activity, tobacco, infx, owning a dog
Internal enviro
Internal bio fx like metabolic fx, receptor sites, gut microflora, inflam, oxidative stress
Complex disease phenotype pathway
Changes how genes are expressed
- occurs thru combo of genetics, enviro exposures, epigenetic mods
- DNA is NOT destiny
Epigenetics
non-genetic influence on gene expression
- on/off switch for gene expression/protein coding PRN for survival
- enviro exposure alters epigenetic markers
Order of complex disease pathway
genetic sus–>exposome–>epigenome–>inc disease
Examples of epigenetic modifications
- telomere shortening
- DNA methylation
- histone mods
- transcriptional silencing
Histone modification
How tightly DNA is coiled around support structures
- looser, more available for transcription to occur
DNA methylation
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
What may interrupt disease pathos?
Gene therapy, meds, dec exposure
Most epigenetic markers are…
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
Main epigenetic fxn
Cause some genes to be dormant and others to be active (expressed)
Nature
Epigenetics are inherited just after fert
- allows cell specialization
Nurture
Exposures can cause epigen mods to let orgs adapt to enviro
- survival mech
- nutrition, pollution, metab, social stress, exercise, sleep hygiene, violence, poverty
Public health interventions for epigenetics
- 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
