Quiz Questions - Review Q2 Flashcards
What is the purpose of cytogenetic studies?
To identify large duplications & deletions of genetic information
When is Sanger sequencing the ideal test?
Identify mutations in single gene disorders in a clinical setting
What is one purpose of Genome Wide Association Studies?
Identify single nucleotide polymorphisms (SNP’s) that maybe associated with multifactorial diseases
How is biochemical testing utilized to make a diagnosis?
Evaluation of specific analytes that can be abnormal in specific genetic conditions
(T/F) Genetic testing can identify the mutation in all known genetic conditions?
False
Genetic diagnosis is performed on the _____ in preimplantation genetic diagnosis?
Blastocyst
Prenatal screen tests are used to ______
Identify a fetus that may have a genetic condition
An indication for referral for a pediatric evaluation includes:
- Family history of a genetic condition
- Developmental delay
- Major & minor birth defect
(T/F) Sporadic and inherited cancer are both caused by genetic mutations
True
What is a limitation of a positive result?
May not be useful to predict the severity of the disease
What are the limits of a negative genetic test in an unaffected person with no known mutation in the family?
- They may not have been tested for the right gene that is in the family
- They may not have inherited the familial mutation
- The testing methodology may have missed the mutation
What genetic test result is the easiest to apply in a clinical setting?
Positive
What can a consumer expect when they purchase Direct to Consumer genetic testing?
DNA sequencing for a unique set of markers that are determined by the company
What is one concern about genetic testing provided by Direct to Consumer testing companies
A healthcare provider is not involved to assist in interpreting the results
Y chromosomes analysis is helpful to explore what part of an individual’s genetic background?
Their paternal background
What is required for an adoptee to find a biological family member in a genetic database?
A biological relative that has participated in the same database
Mr. Smith request Direct to Consumer genetic testing and his report reveals he has a pharmacogenetic marker. What should his doctor do with this information?
Repeat the test in a clinical laboratory to confirm the result
What area is Direct to Consumer genetic testing most useful for?
Ancestry
How does precision medicine enable healthcare providers in creating a personalized medical plan?
Combines an individual’s genetic factors with other health information
How can pharmacogenetic information be utilized in the clinical setting?
- Determine the dose of the drug
- Determine the risk for a toxic response to the drug
- Determine the chance of failure to respond to a drug
According to Dr. Collins, what is one non-genetic reason for launching the Precision Medicine Initiative?
Cellphone technology can collect health and behavior data to analyze with the genetic data
What qualifications are needed to enroll in the All of Us Precision Medicine Initiative cohort?
Willingness to participate
What is the primary goal of the Precision Medicine in Cancer program?
Develop targeted medications and therapy based on genetic markers
What was the purpose of the North Carolina Eugenics Program?
Decrease welfare spending in the future
Who made the decisions about which people were to be sterilized?
Social Workers
What is North Carolina’s restitution plan for victims of eugenics?
Possible cash settlement to those who self identify
(T/F) Roger’s genetic predisposition for early onset cancer has effective screening protocol. He refuses to tell his siblings about his result. You cannot alert his siblings.
False
What genetic testing is protected by GINA?
Testing ordered in the medical setting
Roger is a healthy 20 year-old. He had a genetic testing and was found to have a gene that greatly increases his risk of cancer. What law will protect his health insurance?
Genetic Information Nondiscrimination Act (GINA)
Roger is denied life insurance because he is genetically predisposed to developing cancer at a young age. Is this legal?
Yes
Roger is applying for a new job and his employer asks for the results of any genetic testing he has had. Is this legal?
No
What are POTENTIAL areas for genetic discrimination?
- Life insurance
- Employment
- Health insurance
What impact has eugenics had on the field of genetic counseling?
Nondirective counseling approach in genetic counseling
What was the basic scientific principle of eugenics in the early 1900’s in the U.S.?
Selective human breeding could decrease “bad” traits and increase “good” traits
What is are some populations that were targeted for eugenic sterilization in the U.S.?
- Residents of mental health facilities
- Women that had children outside of marriage
- Prisoners as a term of their release
