Genetic screening indications and genetic counseling referral concepts within nursing practice, distinct from the diagnostic focus of USMLE medical genetics content.
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- What is the primary role of a bedside nurse when a patient has genetic risk factors?
- Identify the risk and refer the patient to a genetic counselor.
- What tool do nurses use to identify hereditary risk patterns in a patient's family?
- A three-generation pedigree (family history).
- What maternal age is generally considered a genetic screening indication in pregnancy?
- 35 years or older.
- What is the purpose of newborn screening?
- To detect treatable metabolic and genetic conditions before symptoms appear.
- When is the newborn screening blood sample typically collected?
- 24 to 48 hours after birth.
- Name a classic condition included on the newborn screening panel.
- Phenylketonuria (PKU).
- What federal law protects patients from discrimination based on genetic information in health insurance and employment?
- The Genetic Information Nondiscrimination Act (GINA).
- What ethical principle means a genetic counselor presents facts without pushing the patient toward a decision?
- Nondirective counseling.
- What is the key difference between a genetic screening test and a diagnostic test?
- Screening estimates risk; a diagnostic test confirms whether the condition is present.
- What should a nurse do when a patient's genetic screening result is positive?
- Refer the patient for diagnostic testing and genetic counseling.
- What is cascade testing?
- Testing biological relatives of a person with a confirmed genetic condition.
- What family cancer history finding should prompt a referral for genetic counseling?
- Multiple relatives with the same type of cancer diagnosed at an early age.
- What is consanguinity?
- A blood relationship between two parents, such as first cousins.
- Why is consanguinity a genetic screening indication?
- It increases the risk of recessive genetic disorders in offspring.
- Which ethnic group has an increased carrier risk for Tay-Sachs disease?
- People of Ashkenazi Jewish descent.