Genetics and Genomics in
Nursing 2026 | Study
Guide, Practice Questions,
Answers & Exam Review |
Complete Ethics Study
Guide
Updated 2026 Questions and Answers
100% Verified Exam Prep and Comprehensive
Rationales
Included
,What is genetics? Genetics is the study of individual genes and how they affect inherited traits or
disorders.
What is genomics? Genomics is the study of all genes in the human genome and how they interact with
each other, the environment, lifestyle, and psychosocial or cultural factors.
What is a gene? A gene is the basic unit of inherited information passed from parent to child.
What is a genome? A genome is the entire set of genetic information in a cell.
What is the nurse's role in genetics? The nurse collects family history, identifies possible genetic risk, provides accurate
education, assesses understanding, supports informed decisions, and refers to
genetic specialists when needed.
Why is family history important in genetics? Family history is one of the cheapest and easiest ways to identify genetic risk
because it shows family structure, diseases, relationships, and illness patterns
across generations.
What does a 3-generation family history usually include? It usually includes the client and siblings, parents, children, aunts and uncles, and
grandparents.
Why are 3 generations useful for predictive testing? Three generations help reveal patterns that may show who is at risk before
symptoms appear.
What family history findings are important to ask about? Ask about birth defects, genetic disorders, cancers, pregnancy losses, infertility,
developmental delays, congenital anomalies, and major chronic diseases in close
relatives.
What does autosomal dominant inheritance usually look It often appears in every generation, and males and females can both be affected.
like?
What does autosomal recessive inheritance usually look It may skip generations because parents can be carriers without symptoms.
like?
If both parents are carriers for the same autosomal Each pregnancy has a 25% chance of an affected child, 50% chance of a carrier
recessive disorder, what is the risk for each pregnancy? child, and 25% chance of an unaffected non-carrier child.
What does X-linked inheritance often look like? It often affects males more severely and may be traced through the maternal side of
the family.
What is multifactorial inheritance? Multifactorial inheritance means a condition is caused by both genetic and
environmental factors.
What is a screening test? A screening test estimates risk. It does not confirm or diagnose a condition.
, What is a diagnostic test? A diagnostic test identifies or confirms whether a genetic or chromosomal
abnormality is present.
What is the most important difference between screening Screening estimates risk; diagnostic testing gives a more definitive answer.
and diagnostic testing?
What does a positive screening test mean? It means the fetus or baby may be at increased risk and the patient may need
counseling and follow-up testing. It does not mean the diagnosis is confirmed.
What does triple or quad screening test for? Triple or quad screening estimates risk for neural tube defects and chromosomal
abnormalities such as Down syndrome and trisomy 18, and sometimes trisomy 13
depending on the testing approach.
Is triple or quad screening diagnostic? No. It is a screening test, not a diagnostic test.
What does fetal ultrasound do in genetic screening? Ultrasound can identify structural abnormalities, growth concerns, neural tube
defects, and soft markers that may suggest chromosomal conditions.
Does fetal ultrasound directly test DNA? No. Ultrasound looks at fetal structures and markers; it does not directly test DNA.
What is chorionic villus sampling or CVS? CVS is an invasive diagnostic test that samples placental tissue to diagnose many
chromosomal or genetic conditions.
What is amniocentesis? Amniocentesis is an invasive diagnostic test that samples amniotic fluid containing
fetal cells to evaluate chromosomal abnormalities and some genetic disorders.
Which tests are invasive diagnostic prenatal tests? Chorionic villus sampling and amniocentesis are invasive diagnostic tests.
What is carrier screening? Carrier screening checks whether a person carries one copy of a gene mutation for
a recessive disorder.
Do carriers usually have symptoms? Usually no. Carriers often do not have symptoms but can pass the mutation to their
children.
What are examples of carrier screening conditions? Sickle cell disease, cystic fibrosis, and Tay-Sachs disease.
What is cell-free fetal DNA screening? It is a maternal blood test that screens for common fetal chromosomal
abnormalities.
Is cell-free fetal DNA screening diagnostic? No. It is a screening test, so positive results need appropriate follow-up and
counseling.
Nursing 2026 | Study
Guide, Practice Questions,
Answers & Exam Review |
Complete Ethics Study
Guide
Updated 2026 Questions and Answers
100% Verified Exam Prep and Comprehensive
Rationales
Included
,What is genetics? Genetics is the study of individual genes and how they affect inherited traits or
disorders.
What is genomics? Genomics is the study of all genes in the human genome and how they interact with
each other, the environment, lifestyle, and psychosocial or cultural factors.
What is a gene? A gene is the basic unit of inherited information passed from parent to child.
What is a genome? A genome is the entire set of genetic information in a cell.
What is the nurse's role in genetics? The nurse collects family history, identifies possible genetic risk, provides accurate
education, assesses understanding, supports informed decisions, and refers to
genetic specialists when needed.
Why is family history important in genetics? Family history is one of the cheapest and easiest ways to identify genetic risk
because it shows family structure, diseases, relationships, and illness patterns
across generations.
What does a 3-generation family history usually include? It usually includes the client and siblings, parents, children, aunts and uncles, and
grandparents.
Why are 3 generations useful for predictive testing? Three generations help reveal patterns that may show who is at risk before
symptoms appear.
What family history findings are important to ask about? Ask about birth defects, genetic disorders, cancers, pregnancy losses, infertility,
developmental delays, congenital anomalies, and major chronic diseases in close
relatives.
What does autosomal dominant inheritance usually look It often appears in every generation, and males and females can both be affected.
like?
What does autosomal recessive inheritance usually look It may skip generations because parents can be carriers without symptoms.
like?
If both parents are carriers for the same autosomal Each pregnancy has a 25% chance of an affected child, 50% chance of a carrier
recessive disorder, what is the risk for each pregnancy? child, and 25% chance of an unaffected non-carrier child.
What does X-linked inheritance often look like? It often affects males more severely and may be traced through the maternal side of
the family.
What is multifactorial inheritance? Multifactorial inheritance means a condition is caused by both genetic and
environmental factors.
What is a screening test? A screening test estimates risk. It does not confirm or diagnose a condition.
, What is a diagnostic test? A diagnostic test identifies or confirms whether a genetic or chromosomal
abnormality is present.
What is the most important difference between screening Screening estimates risk; diagnostic testing gives a more definitive answer.
and diagnostic testing?
What does a positive screening test mean? It means the fetus or baby may be at increased risk and the patient may need
counseling and follow-up testing. It does not mean the diagnosis is confirmed.
What does triple or quad screening test for? Triple or quad screening estimates risk for neural tube defects and chromosomal
abnormalities such as Down syndrome and trisomy 18, and sometimes trisomy 13
depending on the testing approach.
Is triple or quad screening diagnostic? No. It is a screening test, not a diagnostic test.
What does fetal ultrasound do in genetic screening? Ultrasound can identify structural abnormalities, growth concerns, neural tube
defects, and soft markers that may suggest chromosomal conditions.
Does fetal ultrasound directly test DNA? No. Ultrasound looks at fetal structures and markers; it does not directly test DNA.
What is chorionic villus sampling or CVS? CVS is an invasive diagnostic test that samples placental tissue to diagnose many
chromosomal or genetic conditions.
What is amniocentesis? Amniocentesis is an invasive diagnostic test that samples amniotic fluid containing
fetal cells to evaluate chromosomal abnormalities and some genetic disorders.
Which tests are invasive diagnostic prenatal tests? Chorionic villus sampling and amniocentesis are invasive diagnostic tests.
What is carrier screening? Carrier screening checks whether a person carries one copy of a gene mutation for
a recessive disorder.
Do carriers usually have symptoms? Usually no. Carriers often do not have symptoms but can pass the mutation to their
children.
What are examples of carrier screening conditions? Sickle cell disease, cystic fibrosis, and Tay-Sachs disease.
What is cell-free fetal DNA screening? It is a maternal blood test that screens for common fetal chromosomal
abnormalities.
Is cell-free fetal DNA screening diagnostic? No. It is a screening test, so positive results need appropriate follow-up and
counseling.
