Ethics in Genomics Flashcards
What are the familial problems that can come about with genomic testing?
Decisions made by one generation affects the next
What are the social consequences with genetic consequences?
- Employment
- Insurance
What is the major problem with the studies done on genetic testing?
Most are from the companies selling the testing
What are screening tests?
Test to identify asymptomatic individuals with a disease
What are carrier tests?
Test for a recessively inherited disorder
What are diagnostic test?
Test used to diagnose a disorder
What are the two kinds of diagnostic tests?
- Presymptomatic test (known disease, test for symptoms)
- Predisposition test (known risk, not known if carrier)
What are the stages of informing that a person has HD?
-Needs to go through psychological testing to indicate if they are capable of handling the information
What are the risks associated with genetic testing?
- Stigmatization
- Psychological harm
- Detection of unwanted information
What is the genetic information nondiscrimination act of 2008?
- All health insurers cannot use genetic information to discriminate
- Employers cannot discriminate with genetic disease
True or false: GINA covers all forms of insurance
False–only healht insurers and employers
Are insurance companies required to pay for preventive care/treatment by genetic tests?
no
What law protects against discrimination based on s/sx of genetic diseases?
ACA
What are major causes of misinterpretation of genetic testing? (2)
- “At risk” is interpreted as “affected” by both patients and community
- Variable expressivity
Why is it that some genes may not be detected on genomic testing, but still have the disease?
- Variable expressivity
- Hard to have
What is pleiotropy?
What is locus heterogeneity?
What are the privacy concerns with genetic testing?
- Specimens used for research
- One family member’s results may reveal parent’s status
What are the mandatory screening issues with genetic testing?
May discriminate against those who refuse mandatory testing
What is the rule of the NCAA in terms of genetic screening?
Sickle cell screening
What is the positive predictive value? Negative?
What is sensitivity vs specificity?
What are genome wide association studies? What are the major issues with these?
Case-control studies that examine SNPs
Association does not imply causation
What are the health system concerns with DTC testing?
May cause well worried patient getting more tests
What are the major issues with DTC testing?
Not counseling the patient appropriately prior to diagnosing
True or false: some studies suggest that family history is a better predictor of disease than DTC testing
True
What are the five goals of genetic counseling?
- Comprehend dx
- Understand inheritance
- Understand alternatives for dealing with risk
- Choose a course of action consistent with their view of risk
- Make best possible adjustment to disorder
Wht are the four steps for analysing ethical dilemmas?
- Assess the situation
- Identify ethical problems
- Decide on course of action based on ethics
- Evaluation the situation
What is prader willi and angelman syndrome?
