(422 E2) genomics & life course

Question 1

eugenics

Answer 1

the scientifically inaccurate theory that humans can be improved through selective breeding of populations
the implementation of eugenics practices has caused widespread harm, particularly to populations that are being marginalized

Question 2

eugenicists believed in

Answer 2

a prejudiced and incorrect understanding of Mendelian genetics that claimed abstract human qualities (e.g., intelligence and social behaviors) were inherited in a simple fashion. Similarly, they believed complex diseases and disorders were solely the outcome of genetic inheritance.

Question 3

eugenic present day concerns

Answer 3

we are advancing in genetic screening technologies and people may feel pressured to terminate a pregnancy that isn’t “normal” d/t genetic disorders

Question 4

health equity in the context of genomics

Answer 4

requires an understanding of how health is influenced by biological and non-biological determinants of health in all populations
Creating equal, effective, and affordable access to genomic advances in health care for all

Question 5

A commitment to health equity will require funders, researchers, health providers, and others to work together to

Answer 5

1. close existing evidence gaps among diverse and underserved populations;
2. ensure that genomic medicine applications, once implemented, are unbiased and equitably accessible; and
3. build the workforce and infrastructure to make widespread adoption of these strategies possible.

Question 6

types of protected genetic information

Answer 6

• family medical history
• carrier testing (cystic fibrosis, sickle cell, ect)
• prenatal genetic testing
• pre symptomatic and predisposition testing
• analysis of tumors or other assessments of genes, mutations or chromosomal changes

Question 7

GINA restrictions: employers may not

Answer 7

• 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

Question 8

GINA restrictions: health insurers may not

Answer 8

• 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

Question 9

what GINA does not do

Answer 9

• 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??

Question 10

genetics

Answer 10

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

Question 11

gene

Answer 11

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 12

genome

Answer 12

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 13

Epigenomics

Answer 13

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

Question 14

Exposomics

Answer 14

study of how all the exposures of an organism alter its health (Exposures can be chemical, biological, psychosocial, and other environmental stimuli that alter the expression of genes, often through epigenetic mechanisms)

Question 15

epigenetics

Answer 15

non genetic influences on gene expression

• serves as an on/off switch for gene expression/protein coding
• how exposures get “under the skin”
• mechanisms include: DNA methylation, histone modification, transcriptional silencing, telomere shortening

Question 16

Allostasis

Answer 16

the body’s adaptation to predictable and unpredictable changes in the environment (acute and shorter periods of exposure

Question 17

Allostatic load

Answer 17

is defined as the cost of chronic exposure to elevated or fluctuating endocrine or neural responses resulting from chronic or repeated challenges that the individual experiences as stressful

Question 18

what can we do about present day eugenics

Answer 18

• national human genome research institute developed the Ethical Legal Social Implications (ELSI), investigates ethics ares genetics and genomics and the technology associated with it
• addressing structural racism and other issues that foster eugenics based ideas
• understanding and engaging w/ this history in order to create more inclusive and humane future

Question 19

genomics history

Answer 19

historically, genetics research was conducted w/ large populations of European descent

our genetic knowledge and technologies are based on one specific population -> create technologies that are not as applicable or effective in other populations

• historical misuse of DNA (henrietta lacks & fake vaccines to get DNA)

Question 20

when we refer to ancestry and ancestry informative genetic markers, what are we not talking about

Answer 20

race

Question 21

race is

Answer 21

a social construct
not a biological one so there are no racier markers or distinctions genetics

Question 22

when we create genetic technologies, it is costly and only available in certain areas -> so when we look at how is excluded in the research and receiving the benefits, what is it largely impacted by

Answer 22

the social determinants of health

Question 23

ethical concerns for consumer genetic testing (23 and Me)

Answer 23

Consider implications of surprising findings are reveal liked paternity or adoption, life limiting diseases that have no treatment are discovered or when data is used to suspects from a crime

Health insurers refusing insurance to people with genes linked to disease (ex: breast cancer)

Employers refusing to hire people who genes linked to mental health disorders

Question 24

GINA purpose

Answer 24

Prevent discrimination by health insurers based on genetic information

Prevents employers from collecting genetic information about employees or their family members and/or using that information to make decisions

Prevents employers from requesting or requiring genetic tests are changing premiums/co pays/coverage based on genetic info

Question 25

genetic information protected under GINA

Answer 25

Family medical history Carrier testing (CF, sickle cell, spinal muscular atrophy) Prenatal genetic testing (amniocentesis, chorionic villus sampling) Presymptomatic and predispositional testing ( BRCA, huntington, colon cancer) Analysis of tumors or other assessments of genes, mutations or chromosomal changes

Question 26

GINA limitations

Answer 26

Does not prevent anyone from acting based on diseases that are already symptomatic Does not prevent discrimination from non-medical insurance such as life insurance Does not prevent discrimination by the government itself (ex: Tricare [military, federal & VA] is not included and neither is education, housing or health care

Question 27

Chadham’s middle school case

Answer 27

child kicked out of school bc teacher disclosed he had CF to other parents

Question 28

DNA

Answer 28

double stranded structure that contains all information for development and functioning of an organism

Question 29

nucleotides

Answer 29

the subunit that comprises DNA adenine (A) thymine (T) Cytosine (C) Guanine (G) Base pairs: A&T ; C&G

Question 30

Single nucleotide polymorphism (SNP)

Answer 30

a single base substitution in DNA occur ~once every 300 base pairs, meaning there are 10 million SNPs in the entire genome SO to be classified as a SNP, the substitution must occur in 1% of the population most occur outside of the genes and therefore have no effect on genes or the protein products of genes If they fall in the gene, they are classified as coding or noncoding

Question 31

SNP: coding

Answer 31

change the protein product of the gene

Question 32

SNP: noncoding

Answer 32

affect how much protein is produced from the affect gene

Question 33

DNA Methylation

Answer 33

Occurs when methyl molecules attach to the nucleotides that the RNA binds to, to begin the transcription process and prevents transcription from occurring No protein means the gene is not expressed in the body thus the phenotype will vary between methylated and unmethylated genes even though the genotype remains the same

Question 34

Genotype

Answer 34

Ancestral inheritance or mutation causes differences between individuals: * A single nucleotide * Number of copies of a coding sequence * Number of chromosomes * Expressed via production of proteins

Question 35

Phenotype

Answer 35

the observable characteristics of an organism (the presentation of DNA) Based on 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 36

life course dimension

Answer 36

health risk and impact assessment are based specific external environment (diet, tobacco use, PA), general external environment (climate, green spaces, urban environment, social capital) and internal environment (biological factors like metabolic, gut microflora, inflammation, oxidative stress) **these 3 things affect the phenotype**

Question 37

the exposome

Answer 37

the exposures that influence health and disease risk that contribute to a specific phenotype expressed by each individual

Question 38

complex disease

Answer 38

phenotype occurs through a combination of individual: - genetic susceptibility (genotype) - exposures (environment) - epigenetic modifications (interactions between environments and genes)

Question 39

most epigenetic markers are

Answer 39

inherited (almost entirely from mother) referred to as "non genetic inheritance" bc the DNA sequence of the gene does not change

Question 40

main function of epigenetics is to

Answer 40

cause some genes to be silent (dormant) and others to be active (expressed)

Question 41

nature

Answer 41

epigenetics are inherited just after fertilization -> allows cellular specialization (what makes a stem cell become optic nerve cells instead of liver cells)

Question 42

nurture

Answer 42

exposures can cause epigenetic modifications to allow organisms to adapt to their environment (**a survival mechanism**) - nutrition, pollution, social stressors, metabolism, sleep hygiene, exercise habits, poverty, violence, discrimination, ect

Question 43

how can public health address genetic susceptibility

Answer 43

- assess/determine/identify relationships between genetics & environmental factors - inform people of their risk and ways to mitigate them - minize negative exposures - support healthy behaviors - precision medicine targeting specific genetic risk factors

Question 44

the dutch hunter winter effect on pregnant women and their offsprings

Answer 44

-babies who were in second or third trimester during the winter were low birthweight - babied exposed only during 1st trimester were normal birthweight but had worse rates of adult disease - exposed babies had higher rates of adult obesity, CVD, and cognitive decline than those born before or after the war

Question 45

stressed (positive or tolerable stress)

Answer 45

increased CO increased available glucose enhanced immune functions growth of neurons in hippocampus & prefrontal cortex

Question 46

stressed out (toxic stress)

Answer 46

- HTN & CVD - glucose intolerance & insulin resistance - infection & inflammation - atrophy & death of neurons in hippocampus and prefrontal cortex

Question 47

three domains of stress response

Answer 47

* positive stress: contributes to growth * tolerable stress: short lived, no long term harm * toxic stress: severe or chronic stress response that leads to toxic effects on the brain, altered behavior, and maladaptive responses (often result of ACEs or poverty)

Question 48

the complex disease phenotype pathway pyramid

Answer 48

[top] - disease - epigenome (epigenetic modification) - exposome (totality of exposure) - genetic susceptibility (overlapping risk facts for complex disease)