GENETICS AND GENOMICS IN NURSING
AND HEALTH CARE EXAM PREP 2026
QUESTION BANK AND ANSWER KEY
MASTER DNA ANALYSIS SET
◉ Name three conditions screened for in
preconception/preimplantation.
Answer: Cystic Fibrosis (CF), Tay-Sachs, Sickle Cell.
◉ What does prenatal screening assess?
Answer: Risk of common birth defects.
◉ List two conditions assessed in prenatal screening.
Answer: Down syndrome, spina bifida.
◉ What is the purpose of newborn screening?
Answer: To detect treatable conditions early.
◉ Name two conditions identified in newborn screening.
Answer: PKU, galactosemia.
,◉ What is diagnostic screening used for?
Answer: To confirm specific mutation due to signs/symptoms.
◉ Give an example of a condition confirmed through diagnostic
screening.
Answer: Hypertrophic cardiomyopathy.
◉ What is the goal of carrier testing?
Answer: To identify carriers of autosomal recessive disorders.
◉ What is predictive testing used for?
Answer: To evaluate risk of late-onset genetic disorders.
◉ Name two conditions assessed through predictive testing.
Answer: Huntington disease, colorectal cancer.
◉ What is cascade screening?
Answer: Targets family members after one individual is diagnosed.
◉ Why is cascade screening considered cost-effective?
Answer: Especially for autosomal dominant conditions.
, ◉ Which ethnic group is particularly screened for Tay-Sachs?
Answer: Ashkenazi Jewish.
◉ What is the definition of population screening?
Answer: Use of genetic testing on large groups to identify individuals
at risk for late-onset conditions.
◉ What criteria must a genetic test meet for effective population
screening?
Answer: Sufficient gene distribution data, accurate disease
prediction, and support for proactive medical management.
◉ What is the role of nurses in genetic screening?
Answer: Educating individuals about screening benefits and risks,
supporting informed decision-making.
◉ What are Mendelian conditions?
Answer: Conditions caused by mutation in one gene; follows
dominant or recessive inheritance.
◉ Give an example of a Mendelian condition.
Answer: Huntington disease.
AND HEALTH CARE EXAM PREP 2026
QUESTION BANK AND ANSWER KEY
MASTER DNA ANALYSIS SET
◉ Name three conditions screened for in
preconception/preimplantation.
Answer: Cystic Fibrosis (CF), Tay-Sachs, Sickle Cell.
◉ What does prenatal screening assess?
Answer: Risk of common birth defects.
◉ List two conditions assessed in prenatal screening.
Answer: Down syndrome, spina bifida.
◉ What is the purpose of newborn screening?
Answer: To detect treatable conditions early.
◉ Name two conditions identified in newborn screening.
Answer: PKU, galactosemia.
,◉ What is diagnostic screening used for?
Answer: To confirm specific mutation due to signs/symptoms.
◉ Give an example of a condition confirmed through diagnostic
screening.
Answer: Hypertrophic cardiomyopathy.
◉ What is the goal of carrier testing?
Answer: To identify carriers of autosomal recessive disorders.
◉ What is predictive testing used for?
Answer: To evaluate risk of late-onset genetic disorders.
◉ Name two conditions assessed through predictive testing.
Answer: Huntington disease, colorectal cancer.
◉ What is cascade screening?
Answer: Targets family members after one individual is diagnosed.
◉ Why is cascade screening considered cost-effective?
Answer: Especially for autosomal dominant conditions.
, ◉ Which ethnic group is particularly screened for Tay-Sachs?
Answer: Ashkenazi Jewish.
◉ What is the definition of population screening?
Answer: Use of genetic testing on large groups to identify individuals
at risk for late-onset conditions.
◉ What criteria must a genetic test meet for effective population
screening?
Answer: Sufficient gene distribution data, accurate disease
prediction, and support for proactive medical management.
◉ What is the role of nurses in genetic screening?
Answer: Educating individuals about screening benefits and risks,
supporting informed decision-making.
◉ What are Mendelian conditions?
Answer: Conditions caused by mutation in one gene; follows
dominant or recessive inheritance.
◉ Give an example of a Mendelian condition.
Answer: Huntington disease.
