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