genomics & life course (422 E2) Flashcards
eugenics
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
eugenicists believed in
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.
eugenic present day concerns
we are advancing in genetic screening technologies and people may feel pressured to terminate a pregnancy that isn’t “normal” d/t genetic disorders
health equity in the context of genomics
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
A commitment to health equity will require funders, researchers, health providers, and others to work together to
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.
types of protected genetic information
-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
GINA restrictions: employers may not
-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
GINA restrictions: health insurers may not
-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
what GINA does not do
-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??
genetics
The study of heredity and the transmission of characteristics from across generations.
gene
The most basic physical and functional units of heredity. Genes are specific sequences of nucleotide bases that encode instructions for how to make proteins
genome
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.
Epigenomics
study of molecular signals that tell the genome how to behave and their relationship to health
Exposomics
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)
epigenetics
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
Allostasis
the body’s adaptation to predictable and unpredictable changes in the environment (acute and shorter periods of exposure
Allostatic load
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
what can we do about present day eugenics
-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
genomics history
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)