Quiz 4

Question 1

why is diversity good

Answer 1

improves patient care, improves research participation and engagement, improves knowledge about biological, environmental, and social systems and their impact on health, is a right

Question 2

lack of diversity among research participants

Answer 2

2009: 96% european ancestry
2016: 81% european ancestry

Question 3

lack of diversity in the workforce because of

Answer 3

failure to meet requirements of admission, lack of awareness of career options, lack of role models, poor advising, cost, racism in training programs,

Question 4

diversity impact on healthcare

Answer 4

greater potential someone is able to understand the culture, speak the language, and trusted by underserved communities. administration of culturally relevant information prior to research, culturally appropriate counseling, increased access to care and improved quality of care

Question 5

diversity in the workforce suggested interventions

Answer 5

raising awareness, establishing holistic admissions, creating internship and shadowing opportunities, fostering safe spaces, providing mentorship, reimagining educational pathways, improving pay, influencing policy, engaging industry

Question 6

silent genome project

Answer 6

reducing health care disparities and improving diagnostic success for children with genetic diseases from indigenous populations.

Question 7

H3africa

Answer 7

aims to facilitate contemporary research approach to the study of genomics and environmental determinants of disease with goal of improving health in african populations

Question 8

genomics aotearoa

Answer 8

collaborative research platform for genomics and bioinformatics

Question 9

latin cells

Answer 9

human cell map of latin american diversity

Question 10

ALIGN

Answer 10

Australian alliance for indigenous genomics

Question 11

SING

Answer 11

summer internship for indigenous peoples in genomics

Question 12

minority genetics professional network

Answer 12

address the limited racial and ethnic diversity among medical genetics professionals

Question 13

personalized or precision medicine

Answer 13

emerging practice of medicine that uses an individuals genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of the disease

Question 14

need for personalized medicine

Answer 14

different diseases can have similar symptoms, 50% population will not respond as intended for any given drug, this approach encourages patient engagement, lower healthcare cost

Question 15

personalized medicine goals

Answer 15

get the diagnosis right the first time, identify drivers of the disease, more precise and safer drug responses, reduce cost of treatments

Question 16

P4 medicine

Answer 16

medicine should not be reactive and curative but should also be proactive intervening well before the onset of disease

Question 17

mendelian traits

Answer 17

determined by single major gene, mutations in this gene sufficient for phenotype, predictable inheritable pattern, over 7000 mendelian diseases, individually rare but 400 million people have one

Question 18

complex traits

Answer 18

results from variation within multiple genes and their interactions with behavioral and environmental factors, not specific inheritance patterns

Question 19

heritability h2

Answer 19

the proportion of variation in a particular trait that is attributed to genetic factors, it measures the fractions of variation between individuals in a population that is due to their genotypes, percentage 0-1

Question 20

twin studies

Answer 20

reveal the absolute and relative importance of environmental and genetic influences on individuals in a sample, compares the concordance rate of monozygotic twins to dizygotic twins

Question 21

GWAS heritability

Answer 21

measure of the proportion of phenotypic variance that is explained by all SNPs, calculated using a variety of stats methods and softwares, results can be used to predict disease risk in an independent population, only explain a small proportion of the heritability for complex human diseases

Question 22

polygenic risk score

Answer 22

will combine the effects of thousands of variants into a single score that represents an individual genetic risk for a particular disease, individuals with a high score may benefit from preventative measures

Question 23

missing heritability

Answer 23

only SNPs used, impact of other types of genetic variation, rare or not so common SNPs, epigenetic effects, limitations in study design, how was the disease defined

Question 24

cardiovascular disease

Answer 24

general term for range of disorders that affect the heart and blood vessels, leading cause of death globally 32% of all deaths in 2019, most costly disease

Question 25

coronary artery disease

Answer 25

coronary arteries that supply blood to the heart muscles become narrowed of blocked, most common CVD, from gradual buildup of plaques on the artetry walls, can harden and reduce blood flow, symptoms may include angina shortness or breath and fatigue

Question 26

CAD risk factors

Answer 26

non modifiable: age, ethnicity, gender, family history modifiable: overweight, unhealthy diet, inactive, tobacco, alcohol, high blood pressure, high cholesterol

Question 27

CAD diagnosis

Answer 27

blood, EKG, stress test, chest X ray,

Question 28

CAD treatment

Answer 28

lifestyle changes, medications, medical procedures,

Question 29

stroke

Answer 29

leading cause of death and long term disability, higher burden of disease and mortality from stroke in african americans, IS- 85% of strokes HS 15% of strokes

Question 30

stroke risk

Answer 30

increases as you get older african americans have highest risk between 40-60 years

Question 31

integrating personalized medicine into public health challenges

Answer 31

collaborative effort from many stakeholders, access to care, informed consent, genetic discrimination, overlooking environmental factors, health disparities

Question 32

precision public health

Answer 32

the application and combination of new and existing technologies which more precisely describe and analyze individuals and their environment over their life coarse to tailor preventative innervations.

Question 33

two major themes of precision public health

Answer 33

big data - omics - imaging - wearables - web mining - EMRs - Geodata targeted subpopulations - by state, city, neighborhood - by community (race, ethnicity, gender) - condition. subcondition

Question 34

big data

Answer 34

big data consists of extensive datasets - primarily in the characteristics of volume, velocity, variety, and variability- that require a scalable architecture for efficient storage, manipulation and analysis

Question 35

big data and technology

Answer 35

the data itself and the technology that enables its generation use, and interpretation are often conflated AI and machine learning are terms often used used synonymously with the data used by them, bioinformatics too

Question 36

three Vs of big data

Answer 36

velocity: speed of which data are available variety: increasing range of types of source of data volume: the amount of usable data

Question 37

big data public health interventions

Answer 37

understanding disease, identifying at risk populations, targeted interventions

Question 38

homogenous

Answer 38

making sure data is targeted but also inclusive

Question 39

defining subpopulations

Answer 39

identification of subpopulations, increased equity, increased healthcare maximization, but can lead to biased data, decreased equity, or decreased healthcare maximization

Question 40

genetic exceptionalism

Answer 40

the genetics are inherently special

Question 41

genetic reductionism

Answer 41

genetics solves all problems

Question 42

genetic determinism

Answer 42

genetics determines everything

Question 43

genetic essentialism

Answer 43

genes can provide definitions