Genetic Testing Flashcards
What are the 3 types of genetic testing?
Diagnostic Testing, Carrier Testing and Predisposition testing.
Describe the circumstances in which Diagnostic testing is appropriate.
The person being tested is showing symptoms; Test will determine if they’re affected.
Describe the circumstances in which Carrier testing is appropriate.
The person being tested is not suspected of having the condition but may have an increased risk of being a carrier; Due to family history
Describe the circumstances in which Predisposition/Presymptomatic testing is appropriate.
The person being tested is asymptomatic. Testing is done to determine if there is future risk of disease.
What is presymptomatic testing?
Testing for a condition with complete penetrance. (Hunington)
What is predispostional testing?
Testing for a condition with reduced penetrance or multifactorial inheritance.
Describe Michigan Law regarding genetic counseling.
Any individual ordering a presymptomatic or predispostional genetic test must first obtain written informed consent from the patient.
How are test results given to patients?
In person
What is the limitation of presymptomatic testing?
It can’t determine when a disease will occur.
What is the limitation of predispositional testing?
It can’t determine when OR if a disease will occur.
What is the potential risk of testing?
Genetic Discrimination; Insurance and employment discrimination.
Summarize the legal protections and limitations of ADA.
Prevents discrimination for disability/genetic disease; Does not protect against unexpressed, asymptomatic genetic disease. Employers CAN request genetic test results.
Summarize the legal protections and limitations of HIPAA.
Prevent discrimination from test results. Genetic test results are NOT considered a pre-existing condition; Applies only to group health plans.
Summarize the legal protections and limitations of GINA.
Protects against employee discrimination. Does NOT apply to symptomatic genetic disease; Applies to group AND individual health plans.
What is patient autonomy?
Respecting that the patient is in charge of his/her own health and has the right to make their own medical decisions.
What is beneficence?
Promoting what is in the best interest of the patient.
What is Nonmaleficence?
Restrict behavior that may have a negative impact on someone.
Do genetics societies want minors to be tested?
NO they do not recommend that.
