Chapter 5: Genetics and Genomics

What are autosomes? A. Structures composed of two Xs as the sex chromosomes B. The organized arrangement of chromosomes in one cell C. The proteins needed to generate chromosome pairs D. Chromosomes not involved in gender determination

D. Chromosomes not involved in gender determination

What is the smallest functional unit of DNA? A. Chromosome B. Allele C. Nucleotide D. Gene

D. Gene

What are some risks of genetic testing?

Genetic testing results do not change Psychological or social risks Risk for family disruption Some tests have limited value for predicting future risk Testing may identify a great risk for a future serious health risk

The actual alleles for a trait, not just what can be observed:

Genotype

What is the effect of gene mutation and amino acid sequencing on insulin and blood sugar control?

Ineffective insulin is produced

What is the purpose of genetic testing?

It determines whether a mutation exists so that is can determine the risk of disease before symptoms develop.

Pharmacogenetics can tell us:

Whether a medication may be effective How a person metabolizes the drug Risk for serious side effect

For a patient with a genetic predisposition to develop type 2 diabetes mellitus, which factor increases the risk that the patient will be diagnosed with this disease? A. Patient lives sedentary lifestyle B. Grandfather has type I Diabetes C. Mother has coronary artery disease D. Patient consumes high-fat diet

A. Patient lives sedentary lifestyle

For which adult disorders is carrier genetic testing performed? SATA A. Sickle cell disease B. Huntington disease C. Tay-Sachs disease D. Breast cancer E. Alzheimer's disease F. Hemophilia

A. Sickle cell disease C. Tay-Sachs disease F. Hemophilia

A child has 2 identical alleles for pointed ears. Which term best describes the child's likelihood for developing pointed ears? A. The child is homozygous and will develop pointed ears B. The child is heterozygous and may develop pointed ears C. The child has dominant alleles and will develop pointed ears D. The child has codominant alleles and may develop pointed ears

A. The child is homozygous and will develop pointed ears

Which feature is key when a genetics counselor is providing a patient with genetics counseling? A. The counseling should be nondirective B. The counselor provides information and advice to the patient C. The counseling should be provided by an advanced practice nurse D. The counselor provides risks, benefits, and suggestions for early diagnosis

A. The counseling should be nondirective

In analyzing a three-generation pedigree for a client, which questions help determine the genetic implications of a health trait? A. Do affected or unaffected individuals have children affected by the trait? B. Is the trait expressed equally among male and female family members or is it expressed unequally? C. Is the trait present in every generation, or does it skip one or more generations? D. Is a pattern evident, or does the trait appear to be sporadic? E. Where on the chart does the client appear?

A, B, C, D A. Do affected or unaffected individuals have children affected by the trait? B. Is the trait expressed equally among male and female family members or is it expressed unequally? C. Is the trait present in every generation, or does it skip one or more generations? D. Is a pattern evident, or does the trait appear to be sporadic?

When assessing for genetic risks, which factors indicate that a client may have an increased genetic risk for a disease or disorder? SATA A. A close family member has an identified genetic problem B. A patient tells you that he was exposed to a carcinogenic substance during a war C. A patient has been diagnosed with two different types of cancer D. A patient's sister had breast cancer at age 24 E. A patient's father was diagnosed with rheumatic fever at 10 years of age F. A patient tells you that she never exercises

A. A close family member has an identified genetic problem C. A patient has been diagnosed with two different types of cancer D. A patient's sister had breast cancer at age 24

A client with a family history of polycystic kidney disease, an autosomal dominant disorder, states to the nurse, "I would like to be genetically tested for the disease, but I don't want my family to know the results." How does the nurse respond? A. Assures the client that confidentiality will be maintained B. Discusses the consequences of not informing family members C. Encourages the client to discuss the results with family D. Explains that keeping the results from the family is not possible

A. Assures the client that confidentiality will be maintained The nurse assures the client that confidentiality will be maintained. The results of a genetic test must remain confidential to the client. They cannot be given to a family member, another health care provider, or an insurance carrier without the client's permission.It is not the nurse's place to advise the client about how he or she should handle the results of genetic testing. Confidentiality will be maintained for the client in genetic testing, so it is inaccurate to tell the client that it is not possible to keep the results from the family.

What is the role of the medical-surgical nurse in genetic testing? SATA A. Ensure that the patient's rights are respected B. Provide complete information on the results of the testing C. Refer the patient to a genetics counseling expert D. Always be present when the patient receives genetic counseling E. Teach patients about the nature of genetic testing F. Warn the patient about the likelihood of genetic anomalies

A. Ensure that the patient's rights are respected C. Refer the patient to a genetics counseling expert E. Teach patients about the nature of genetic testing

A person's genetic sequence for a specific protein has a variation or mutation. Which statement expresses what may happen to that person? SATA A. Function of the protein may be reduced B. Function of the protein may be the same C. Function of the protein may be eliminated D. Function of the protein may be completely different E. Function of the protein may be normal or expected F. Function of the protein may be enhanced

A. Function of the protein may be reduced C. Function of the protein may be eliminated F. Function of the protein may be enhanced

Which disorders have a genetic pattern of inheritance? SATA A. Malignant hyperthermia B. Gallstones C. Cystic fibrosis D. Acute lymphocytic leukemia E. Polycystic kidney disease F. Sickle cell disease

A. Malignant hyperthermia C. Cystic fibrosis E. Polycystic kidney disease F. Sickle cell disease

What are examples of diseases that are Autosomal Recessive (AR)?

Albinism (albino); Beta thalassemia; Cystic fibrosis; Sickle cell disease

The patient desires genetic testing for Huntington disease (HD) gene but does not want other members of his family to know the results. Which ethical issue would be violated if the patient's family were informed of these results? A. The right to know versus the right not to know B. Confidentiality C. Coercion D. Privacy

B. Confidentiality

If someone has the Cytochrome P450 (CYP) Family Gene, what is the main concern?

At risk for nonresponsiveness or over responsiveness to medications, adverse reactions and drug toxicity

Require that the gene alleles controlling the trait be located on an autosomal chromosome and are usually expressed, even when only one allele of the pair is dominant

Autosomal Dominant (AD) -Appears in every generation with no skipping

Inheritance that require that the gene controlling the trait be located on an autosomal chromosome; normally the trait can be expressed only when both alleles are present:

Autosomal Recessive (AR) -Trait many not appear in all generations of a family

A 36-year-old client with a suspicious mammogram tells the nurse that her mother died of bone cancer at age 40. In assessing the client for cancer risk, what question does the nurse ask next? A. "Have any other members of your family had bone cancer?" B. "Did your mother ever have any other type of cancer?" C. "Did your mother have regular mammograms?" D. "How old were you when you started your period?"

B. "Did your mother ever have any other type of cancer?" The nurse asks the client whether her mother ever had any other type of cancer. Breast cancer is considered an autosomal dominant trait disorder and is caused by the BRCA1 and BRCA2 genes and autosomal dominant transmission.Bone cancer can be a complication of breast cancer because of metastasis. Bone cancer is not considered genetic, so asking if any other family members had bone cancer is not important. Whether the client's mother had regular mammograms does not address the issue of gene trait inheritance. The age of menarche is not a determining factor in this case.

The daughter of a client diagnosed with bilateral breast cancer has been counseled about genetic testing. She has decided not to be tested, despite the client's insistence. How does the nurse respond to the daughter's decision? A. "Are you sure you are comfortable with your decision?" B. "It is your decision. You can always call if you change your mind." C. "I wouldnt want to know, either" D. "You really should do as your mother suggests."

B. "It is your decision. You can always call if you change your mind." The response that it is the daughter's decision is appropriate. The final decision to have or not have genetic testing rests with the daughter. This is a tough decision, so it is good to allow her the opportunity to change her decision at a later time.It is not the nurse's place to question the daughter's decision or to try to steer it in one direction or another. Asking the daughter if she is sure about her decision may cause her to lose confidence and second-guess her decision. It is not professional for the nurse to express personal opinions such as "I wouldn't want to know, either" about this situation. Telling the daughter that she should do as her mother suggests is unprofessional and is not accepting of the daughter's decision.

Which statements about gene mutations are accurate? SATA A. All gene mutations are serious and potentially deadly B. Gene mutations that increase risk of a disorder are susceptibility genes C. Mutations that occur in the body cells (somatic) can be passed from parents to children D. Germline mutations (Sex cells) cannot be passed from parents to children E. Gene mutations that decrease risk for disorder are protective genes F. Somatic cell gene mutations may cause increased risk for cancer in cells

B. Gene mutations that increase risk of a disorder are susceptibility genes E. Gene mutations that decrease risk for disorder are protective genes F. Somatic cell gene mutations may cause increased risk for cancer in cells

An adult patient prescribed antibiotics for an acute infection develops severe bloody diarrhea. Which phenomenon is this an example of? A. Gene mutation B. Inheritance alteration C. Altered microbiome D. Allergic reaction

C. Altered microbiome

A newborn infant inherits a type A allele from his mother and a type B allele from his father. What type of blood will the infant have? A. Type A B. Type B C. Type AB D. Type O

C. Type AB

The patient is of Caucasian heritage. Which heritage-based precaution is essential when the healthcare provider prescribes warfarin for this patient? A. Teach the patient to use a soft-bristled toothbrush B. Assess the patient for signs of abnormal bleeding every shift C. Instruct the UAP to avoid the use of regular razor during morning care D. Monitor the patient's international normalized ratio (INR) more frequently

D. Monitor the patient's international normalized ratio (INR) more frequently

The patient has the gene for Huntington disease (HD). What is her risk for developing this disease? A. The HD gene has low penetrance and the patient is unlikely to develop the disease B. The patient must have two genes for HD for the disease to develop C. The HD gene is autosomal dominant; the patient has a moderate risk for developing the disease D. The HD gene has high penetrance and the patient's risk is almost 100%

D. The HD gene has high penetrance and the patient's risk is almost 100%

The degree of expression a person has when a dominant gene is present (personal issue, not a population one):

Expressivity

Can the results of genetic testing be given to a patients family member, other primary health care provider, or insurance carrier without the patients permission?

NO!

A graph of family history for specific trait/health problem over several generations:

Pedigree

How often or how well, within a population (family tree), a gene is expressed when it is present:

Penetrance

Characteristics that can be observed or (in some cases) determined by laboratory test:

Phenotype

Process of using genes to make proteins needed for physiologic function and cellular regulation:

Protein Synthesis

What is the goal of pharmacogenetics?

To predict a patients genetic response to a specific drug as a means of delivering the best possible medical treatment

A person's hair is curly. Which statement is true about this person's alleles for hair type? A. The person must have two identical alleles for curly hair B. The person may have one allele for curly hair and one allele for straight hair C. The person's parents must both have the phenotype of curly hair D. The person must have two recessive alleles for curly hair

B. The person may have one allele for curly hair and one allele for straight hair

What are examples of diseases that are Autosomal Dominant (AD)?

Breast cancer (BrCA1 or BrCA2); Type 2 diabetes; Familial adenomatous polyposis; Huntington's disease; Malignant hyperthermia; Marfan syndrome; von Willebrand's disease

Which statement is true about the role of a gene in the synthesis of a specific protein? A. A dominant gene triggers protein synthesis, and a recessive gene inhibits protein synthesis. B. A gene contains the code for a specific protein. C. Genes have no role in protein synthesis. D. For protein synthesis, only the area of the DNA that contains the gene for the specific protein needed is transcribed into RNA.

B. A gene contains the code for a specific protein. The statement that a gene contains the code for a specific protein is true. A gene is a specific segment(s) of DNA that contains the code (recipe) for a specific protein.Protein synthesis is not related to dominance or recessiveness. Protein synthesis is the process whereby genes are used to make the proteins needed for physiologic function. For protein synthesis, only the area of the DNA that contains the gene for the specific protein needed is transcribed into RNA.

What type pattern of inheritance does the nurse determine is probably present when reviewing the pedigree of a client diagnosed with a health problem in which the problem is present in both males and females, unaffected parents have affected children, and the problem appears mostly in siblings in about 25% of three familial generations? a. Autosomal dominant b. Autosomal recessive c. Sex-linked recessive d. Familial clustering

B. Autosomal recessive From the information provided, the pedigree meets the criteria for autosomal recessive pattern of inheritance, which are: The trait may not appear in all generations of any one branch of a family. The trait often first appears only in siblings rather than in parents and children. About 25% of a family will be affected and express the trait. The children of two affected parents will always be affected (risk is 100%). Unaffected adults who are carriers (heterozygous for the trait) and do not express the trait themselves can transmit the trait to their children if their partner either is also a carrier or is affected.

Which activity related to genetic counseling best illustrates the role of the medical-surgical nurse? A. Discloses the results of a genetic test to the client and family members B. Ensures that the client understands the consequences of having a genetic test performed C. Tells the clients family the results D. Urges the client with a positive family history for a genetic disorder to undergo genetic testings

B. Ensures that the client understands the consequences of having a genetic test performed The activity by the nurse related to genetic counseling that best illustrates the role of the medical-surgical nurse is that the nurse ensures that the client understands the consequences of having a genetic test performed. The nurse can emphasize to the client and family the importance of using genetic testing as a preventive measure and for early detection of diseases related to genetic defects.Disclosing genetic test results is the role of the genetic counselor. Sharing genetic test results with the client's family is a breach of confidentiality. The decision to undergo genetic testing belongs to the client. The nurse should not influence the client's decision in any way

A patient asks you to explain the term "microbiome". Which explanation is most accurate? A. Microbiome is a new genetics concern because it refers to microorganisms that are pathogenic B. Microbiome is the genomes of all the microorganisms that coexist in and on a person C. Microbiome is the microorganisms that are responsible for the occurrence of mutations D. Microbiome is the microorganisms that move from place to place within the human body

B. Microbiome is the genomes of all the microorganisms that coexist in and on a person

What is the major reason nurses need to understand the genetic basis for disease? A. Nurses must be prepared to offer genetic counseling at the bedside B. Most serious adult-onset diseases have a genetic component C. Patients read about genetics and ask questions about this topic D. Many adult-onset diseases can lead to genetic anomalies

B. Most serious adult-onset diseases have a genetic component

Which statement about autosomal recessive patterns of inheritance is accurate? A. The trait appears in every generation B. The children of two affected parents will always be affected C. About 50% of a family will be affected by the trait D. The trait is found more commonly in female than male family members

B. The children of two affected parents will always be affected

Which statement is consistent with an autosomal dominant pattern of inheritance for a specific trait or characteristic? A. Unaffected parents are able to transmit the trait to their children B. The genotype cannot be predicted from the phenotype C. The trait appears consistently only in male offspring of female carriers D. The daughter of an affected mother is a carrier of the disease

B. The genotype cannot be predicted from the phenotype. The statement that the genotype cannot be predicted from the phenotype is consistent with an autosomal dominant pattern of inheritance for a specific trait of characteristic.Unaffected parents do not have affected children; therefore the risk is essentially 0%. The autosomal trait does not appear only in male offspring. The daughter of an affected mother may or may not be a carrier of the disease. This fact would be determined by genetic testing.

Which criteria are used to determine if inheritance is autosomal dominant (AD)? SATA A. The trait appears in every other generation B. The risk for the affected person to pass the trait to a child is 50% with each pregnancy C. Unaffected people do not have affected children D. The trait is found equally in males and females E. For the trait to be expressed, both alleles must be dominant F. The trait will appear in every other child

B. The risk for the affected person to pass the trait to a child is 50% with each pregnancy C. Unaffected people do not have affected children D. The trait is found equally in males and females

Which statement best reflects the correct explanations by the healthcare professional who is providing genetic counseling? A. "This test will tell us everything about you!" B. "We are going to perform this testing because you asked for it, and it won't affect your family in any way." C. "I'm here to provide information so that you can make an informed decision about genetic testing." D. "The results of this genetic testing will be sent to your health insurance carrier immediately."

C. "I'm here to provide information so that you can make an informed decision about genetic testing."

Which statement about a sex-linked recessive pattern of inheritance is accurate? A. The trait cannot be passed down from mother to son B. The incidence is much higher in females than males in a family C. Female carriers have a 50% risk with each pregnancy of passing the gene to their children D. Transmission of the trait is from mother to all daughters, who will become carriers

C. Female carriers have a 50% risk with each pregnancy of passing the gene to their children

Which condition might require genetic counseling for a client? A. Peptic ulcer disease B. Migraine headache C. Huntington disease D. Hodgkins Lymphoma

C. Huntington disease Huntington's disease might require genetic counseling for a client. The gene for Huntington's disease (HD) has an autosomal dominant pattern of transmission. Therefore, a person who has one HD allele is at risk for developing HD.Peptic ulcer disease, migraine headache, and Hodgkin's lymphoma are not genetic disorders

A client wishes to become pregnant, but has a family member with cystic fibrosis. She asks about the need for genetic testing. How does the nurse respond? A. Asks the client whether a positive genetic test result would change her plans to become pregnant B. Reminds the client that genetic testing is very expensive C. Refers the client to a genetic counselor D. Tells the client that cystic fibrosis is caused by an autosomal dominant disorder

C. Refers the client to a genetic counselor The nurse refers the client to a genetic counselor. The nurse is not expected to be the final source of definitive information on genetic issues. However, the nurse can help ensure that the client is appropriately referred to an appropriate source.Although how the client would react to a positive genetic test result is to be considered, it is not the best answer. The nurse should not assume that cost is a primary issue for this client. Telling the client that cystic fibrosis is caused by an autosomal dominant disorder does not help ascertain whether genetic testing is needed. Also, cystic fibrosis has an autosomal recessive pattern of inheritance.

What therapy outcome does the nurse expect for a client receiving warfarin therapy who has a variant of the CYP2C9 that makes the enzyme have greater activity? a. Having an increased risk for drug side effects b. Having excessive bleeding from minor trauma c. Requiring a higher dose to achieve the desired anticoagulation level d. Requiring a lower dose to achieve the desired anticoagulation level

C. Requiring a higher dose to achieve the desired anticoagulation level When the enzyme that metabolizes a drug for elimination (inactivates the drug), less of the drug is active in the blood to exert its effects. Therefore a higher dose of the drug is needed to be therapeutic. If a lower dose is given, the drug would be even less effective. Because the effect of warfarin is to decrease clotting, this client would have less available drug and be less likely to have excessive bleeding or to have any side effects from this drug.

The adult patient from Ethiopia with high blood pressure is prescribed metoprolol 50 mg twice a day. What major concern must the nurse monitor for with this patient? A. The patient is at risk for sudden severe hypotension B. The patient may develop a severe allergic reaction to this drug C. The patient's blood pressure may not respond to this drug D. The patient may develop orthostatic hypotension

C. The patient's blood pressure may not respond to this drug

What are benefits of genetic testing?

Confirm diagnosis Identify at-risk individuals

The nurse is teaching a client about genetic counseling. Which statement by the client indicates that the teaching has been effective? A. "After I change my health behaviors, I can repeat the test and anticipate better results." B. "Everyone should have genetic testing done." C. "I don't want to know how I am going to die." D. "Just because I have a trait does not mean that I will get a disease."

D. "Just because I have a trait does not mean that I will get a disease." The statement by the client that, "Just because I have the trait does not mean I will get the disease," indicates that teaching has been effective. A genetic trait may be recessive or may be controlled, which means that the person may never contract the disorder.Results of genetic tests never change; a genetic trait is present or absent. Genetic testing is expensive and can have many psychosocial repercussions; it is not for everyone. Genetic testing does not indicate how a person is going to die.

When teaching the client and family about genetic counseling, what information does the nurse include in the teaching plan? A. Diagnostic genetic testing determines the risk for a specific disorder B. Informed consent is needed from all family members before genetic testing is performed C. Genetic test results can show improvement or worsening of a genetic disorder D. Genetic test results will be shared with family members who may be affected

Diagnostic genetic testing determines the risk for a specific disorder. The nurse includes information that diagnostic genetic testing determines the risk for a specific disorder. Diagnostic genetic testing determines whether the client has or does not have a mutation that increases the risk for a specific disorder.Although genetic testing always gives information about the family as well as the client, the client being tested is the only one who is required to give consent. Genetic disorder traits do not change; they may be present or absent. Confidentiality is paramount, and only the client is given the results.

Which action(s) performed by a nurse with a client who is at increased genetic risk for a health problem is/are consistent with a "nondirective manner?" (Select all that apply.) a. Providing only the information the patient or family specifically requests. b. Skillfully directing the client and family toward the best choice that is supported by appropriate research. c. Being present (at the client's request) when the client discloses his or her specific status to other family members. d. Presenting all facts and available options in a manner that neither promotes nor excludes any legally permitted decision or action. e. Clarifying the client's misconception that being positive for the BRCA1 gene guarantees that the client will develop breast or ovarian cancer. f. Filtering management options and focusing on the information that will support the decision the nurse believes is right for the individual client and family.

c. Being present (at the client's request) when the client discloses his or her specific status to other family members. d. Presenting all facts and available options in a manner that neither promotes nor excludes any legally permitted decision or action. e. Clarifying the client's misconception that being positive for the BRCA1 gene guarantees that the client will develop breast or ovarian cancer. Nondirective counseling provides all the relevant facts and options available and allows the client/family to make the decision that is right for them. The nurse or any other counselor does not recommend any course of action but supports whatever action the client and/or family decides to take. This type of counseling almost always provides more information than the client requests because most clients have little background in genetics. Clarifying misconceptions is a nursing responsibility that can be met while still being nondirective.