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Risk Perception and Genetic Testing: A Critical Analysis, Study notes of Study of Commodities

biology study guide for test 3 specifically genetics

Typology: Study notes

2020/2021

Uploaded on 11/02/2023

deborah-phanor
deborah-phanor 🇺🇸

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optimistic bias
our risk is less than others, e.g. It won't happen to ME!
false sense of control
control makes us feel safe BUT 36,560 Americans died in car accidents in 2018 compared to
381 Americans killed in aviation accidents
unclear cultural cues
When we hear different information from different sources we struggle to decide who to believe
confirmation bias
We tend to only seek confirming evidence. When deciding if it is safe to dine outside what do we
search for online?
exposure therapy
Risk actually doesn't change, we just get used to taking the risk.
What influences our perception of risk?
Vaccinations: 1 in three parents with a child under 18 was worried about vaccines and one in
four was concerned about the value and safety of vaccines in general
Evidence tells us that vaccines do not cause autism, diabetes, asthma or other major afflictions
What does cognitive science tell us about risk?
-When making decisions we subconsciously weigh risks and benefits
-If an action seems to offer little benefit the risk automatically seems bigger
Example of polio vaccinations
-In the 1950s the risk felt smaller (it was actually larger) because there was a clear benefit to
receiving the vaccine
-Other studies have shown that if a risk is imposed upon someone it feels scarier than if the risk
is voluntary
Can reason overcome instinct?
-No, the neural roots of fear are a complex interplay of slower, conscious reason
-Quicker, subconscious emotion and instinct leads to feeling first and thinking second
The Emotional Brain (Ledoux)
- the wiring of the brain at this point in our evolutionary history is such that connections from the
emotional systems to the cognitive systems are stronger than connections from the cognitive
systems to the emotional systems
risk/perception gap
-the production of risk perceptions that don't match the evidence
-E.g. fear of vaccines, non-fear of sun tanning
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optimistic bias our risk is less than others, e.g. It won't happen to ME! false sense of control control makes us feel safe BUT 36,560 Americans died in car accidents in 2018 compared to 381 Americans killed in aviation accidents unclear cultural cues When we hear different information from different sources we struggle to decide who to believe confirmation bias We tend to only seek confirming evidence. When deciding if it is safe to dine outside what do we search for online? exposure therapy Risk actually doesn't change, we just get used to taking the risk. What influences our perception of risk? Vaccinations: 1 in three parents with a child under 18 was worried about vaccines and one in four was concerned about the value and safety of vaccines in general Evidence tells us that vaccines do not cause autism, diabetes, asthma or other major afflictions What does cognitive science tell us about risk? -When making decisions we subconsciously weigh risks and benefits -If an action seems to offer little benefit the risk automatically seems bigger Example of polio vaccinations -In the 1950s the risk felt smaller (it was actually larger) because there was a clear benefit to receiving the vaccine -Other studies have shown that if a risk is imposed upon someone it feels scarier than if the risk is voluntary Can reason overcome instinct? -No, the neural roots of fear are a complex interplay of slower, conscious reason -Quicker, subconscious emotion and instinct leads to feeling first and thinking second The Emotional Brain (Ledoux)

  • the wiring of the brain at this point in our evolutionary history is such that connections from the emotional systems to the cognitive systems are stronger than connections from the cognitive systems to the emotional systems risk/perception gap -the production of risk perceptions that don't match the evidence -E.g. fear of vaccines, non-fear of sun tanning

HD study (Robert Klitzman) -There is an increasing use of genetic tests by healthcare providers and direct-to-consumer (DTC) marketing. -This raises questions regarding how individuals at risk for various diseases view and understand genetic information they receive -64 participants HD misunderstandings -Many believed they could control genetic disorders -that testing would be helpful in and of itself Why are these misunderstandings dangerous? -impede an individual's ability to cope and pursue treatment Misunderstandings about genetic tests -Thought to provide more certainty than they in fact did, e.g. "My sister thought that if she got tested, she would know whether she was going to get breast cancer." -Many participants felt the identification of a gene implied that treatment existed, or would soon be developed Misunderstandings about genetic mechanisms -Homozygotes vs. Heterozygotes - genetic concepts were too abstract, concerning statistical probabilities that were not part of their lived experience -Beliefs about inheriting mutations and physical traits together (ex: "I always thought that because I looked more like my mother, I was at risk of getting the disease" or "When my sister came up positive, I thought, "I'm probably going to be positive as well.") Misunderstandings about statistics -Problems understanding absolute vs. relative risks (ex: said that if I took Tamoxifen, I was going to double my chances of uterine cancer. That was scary. But then I said, well what are my chances if I don't take it? They said: one in 10,000. I said: "That means it could be two in 10,000?") -Problems understanding each "toss of the coin" as independent (ex: He tested negative, which scared me. Irrationally, I though for sure we couldn't both get away unscathed.) -Many felt they must be mutation-positive if a sibling was negative prior probability probability estimate before taking additional data into account posterior probability probability estimate after taking specific data into account Conditional probabilities: HD

Significance of "In Samarra" poem With respect to BRCA, people try so hard to avoid certain diseases that may run in their families, however, no matter how hard you try to avoid it can catch up with you anyway. worries about a positive/negative genetic test result

  • (negative result) risk increased for other cancers, physical and emotional scars of surgery, surgical menopause and associated risks, feeling normal, what/how/when to tell children -discrimination if positive Myriad risk ... Myriad benefits ... Three test result possibilities -Positive for a deleterious mutation: -No mutation detected: -Variant of uncertain significance: Positive result options Surveillance -ultrasounds, blood testing, clinical monitoring, mammograms, breast MRIs Prophylactic Surgery - removal of healthy tissue Chemoprevention: Harms of testing for BRCA Emotional: anxious, depressed, angry Difficulty making choices about surgery Survivor guilt if negative test result Tension in families Effects on decisions about career, marriage, family Privacy risk Confidentiality risk Chance of inaccurate results Genetic discrimination -carriers may be subject to overt discrimination in employment and health insurance -subtle forms of discrimination, e.g. estrangement and rejection by families and being looked at as less than ideal partners in relationship -led people to refrain from testing which can cause damage because they may forgo preventative treatment, monitoring, intervention -some use fake names or pay privately

-All of this hinders the ability to properly care for at-risk individuals as well as the progress of medical research GINA -Protection again discrimination in employment and health insurance -Does not extend to employers with less than 15 employees -Does not apply to life insurance, disability insurance, long term care insurance, mortgage insurance, etc. Prohibits discrimination based on genotype NOT phenotype (only protected while asymptomatic) Duty to warn (ethical issue) Whether or not health professionals have a responsibility to disclose relevant genetic information to their patients' relatives Autonomy as Relational (ethical issue) -Whether or not individuals have a responsibility to acquire genetic knowledge and share positive results with family at risk -Understanding autonomy in a relational way involves the recognition of internal and external factors that shape decision making and the responsibilities that arise from our connections to others -There is a compelling moral argument that favors sharing genetic information with relatives who may be at risk BUT what about the 'right not to know'? -Also, some 'mutation carriers' don't want to share information due to stress and tension it may cause on relationship Medical confidentiality means that anything discussed between a doctor and a patient must be kept private Justification for medical confidentiality -Respect for autonomy-confidentiality is implied in this relationship, competent patients have the right to control the use of information pertaining to themselves. -Necessary for the patient/doctor relationship to work (patients may withhold personal information that can hinder physicians) Two exceptions to medical confidentiality

  1. Concern for the safety of other, specific, persons (the law does allow breach in some of these cases)
  2. Concern for public welfare: AIDS and Class IV HIV, hepatitis A and B, measles, rabies, tetanus, and tuberculosis are to be reported in various states Tarasoff case a therapist who has reason to believe that a client is dangerous to someone must warn the endangered person or take other steps to prevent harm

But even a test that provides good news can bring a heavy burden, including survivor's guilt over the other family members who are less fortunate, and the loss of a driving force to accomplish something that may have been motivated by one's genetic inheritance. Areas of discrimination employment, insurance and social relationships What is CRISPR? A genome editing technique that: Targets a specific section of DNA Makes a precise cut/break at the target site Can do one of two things: Makes a gene nonfunctional Replace one version of a gene with another NIH Policy on funding germline editing -will not fund any use of gene-editing technologies in human embryos -ethical issues presented by altering the germline in a way that affects the next generation without their consent, and a current lack of compelling medical applications -may lead to irreversible mutations and serious consequences on the heredity of future generations, while its long-term safety is unpredictable How does the policy affect research? ... NAPA group recommendations -Discourage attempts at germline genome modification for clinical application in humans while ELSI implications are discussed -Create forums where scientists and bioethicists can provide information -Encourage and support transparent research to evaluate efficacy -Create a globally representative group of developers and users, members of public and government to further consider issues. Genome editing in mosquitoes to reduce malaria: benefits they will become less able to either reproduce or to carry the disease-causing microbes. The general idea is to release modified mosquitoes (usually male, which do not bite and thus cannot spread disease) into the environment so that they will mate with the wild mosquitoes. ??? Genome editing in mosquitoes to reduce malaria: risks Modifying mosquitoes to change their reproductive ability and population size may have potentially unpredictable ecosystem-wide effects, e.g., on other animals that may rely on the mosquitoes for food, or plants that may depend on the insects for pollination community-based research recommendations

-obtain some form of informed consent from individuals in the community -Community endorsement should be viewed as an important ongoing manifestation of the relationship between the project and the local community. -Community support is unlikely to be secured unless members of a community feel a sense of ownership, or stewardship, of the project -Researchers should respect—and listen to— dissenting opinions and priorities, and ensure that these are considered in discussions and decisions. gene drive effects -CRISPR CAS-9 can insert gene drives -this ensures that the altered gene is always inherited Lyme Disease research on Nantucket ... Support for CRISPR -Increased life span -Elimination of genetic mutations -Genetic control -Increased crop yield -Produce inexpensive vaccines Problems with CRISPR -Overpopulation, regulation of birth rate -Decrease in genetic diversity - weaken us as a species -Revival of eugenics -Unexpected genetic problems, e.g. pre-mature aging CRISPR intellectual property issues U.S. Patent Trial and Appeal Board (PTAB) ruled that the Broad group, Harvard and MIT invented the use of CRISPR in eukaryotic cells and issued a patent. ?????