Ignatavicius: Medical-Surgical Nursing, 6th Edition

Chapter 6: Genetic Concepts for Medical-Surgical Nursing Test Ban M!"TI#"E C$%ICE 1. Which statement by the nurse indicates a correct understanding of the purpose of a pedigree? a It is used for genetic counseling of the client by the geneticist. . b It is used to show family history of a trait over at least three generations. . c It is used to show a specific pattern of inheritance of a trait. . d It is used to identify penetrance of a gene in a family. . ANS: A pedigree is a graph of a family history for a specific trait or health problem over several generations. !he other statements are inaccurate descriptions of the purpose of a pedigree. "I#: * +: !*-: 1S$: $ognitive %evel: &nowledge '(#: p. )1 %earning *utcome 1, $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

,. !he client e2hibits a trait that has appeared in every generation of their family. !his is an e2ample of which type of inheritance? a Autosomal recessive . b Se23lin/ed recessive . c Autosomal dominant . d Se23lin/ed dominant . ANS: $

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Autosomal dominant .A"0 single gene traits re8uire that the gene alleles controlling the trait be located on an autosomal chromosome. A dominant gene allele is e2pressed even when only one allele of the pair is dominant. *ther criteria for A" patterns of inheritance include that the trait appears in every generation with no s/ipping. Autosomal recessive6 se23lin/ed recessive6 and se23lin/ed dominant inheritance do not re8uire that the trait appear in every generation of a family. 'ather6 in the case of se23lin/ed traits6 the gender of family members determines whether a trait will appear in a family. "I#: * +: !*-: 1S$: $ognitive %evel: &nowledge '(#: p. )9 %earning *utcome 15 $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

9. !he client has a family history of breast cancer. !he physician has recommended that she undergo genetic testing. What action is most important for the nurse to ta/e prior to scheduling the client for the procedure? a 1a/ing certain that the client is prepared for the ris/ of psychological side effects . b *btaining a signed and witnessed informed consent from the client and place it . on their chart c Simultaneously scheduling the client for genetic counseling with an advanced . practice nurse d $arefully e2plaining all aspects of the procedure to the client6 reassuring her . regarding confidentiality ANS: Informed consent is re8uired before genetic testing is underta/en. !he person tested is the one who gives consent6 even though genetic testing always gives information about a family and family members6 not :ust the client. Although the procedure must be e2plained to the client and she must be prepared for the psychological effect of undergoing testing6 the procedure cannot occur without an informed consent. "I#: * +: !*-: $are0 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcomes 16 , $lient Needs $ategory: Safe and (ffective $are (nvironment .1anagement of Integrated -rocess: $ommunication and "ocumentation

<. !he client undergoes genetic testing but chooses not to be told the results of the testing once it is completed. Which action is most important for the nurse to implement? a (ncourage the client to as/ for the results of the genetic testing. . b Share the results of the testing with the client=s family members. . c (2plain to the client that his choice may affect other family members.

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!est an/ . d 'espect the client=s right not to /now the results of the testing. . ANS: " !he right to /now genetic ris/ versus the right to not /now is the individual client=s choice. !he nurse should respect the client=s rights. It would not be appropriate for the nurse to encourage the client to as/ for the results because this is a personal issue. !he nurse would never share results with others because this is a violation of >I--A. !he client probably reali?es that his choice affects other family members. !he nurse would not have to e2plain this to him. "I#: * +: !*-: $are0 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 9 $lient Needs $ategory: Safe and (ffective $are (nvironment .1anagement of Integrated -rocess: $aring

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@. !he nurse has been wor/ing with a client who has as/ed to receive the results of genetic testing. What will the nurse do prior to discussing the results with the client? a *btain a signed and witnessed informed consent form and place it on the client=s . chart. b Assess the client=s ability to communicate clearly with the nurse and other . personnel. c 'eassure the client that it is not necessary to inform other family members of the . test results. d (ncourage the client to agree to undergo several sessions of further counseling. . ANS: !he nurse has to assess the client=s ability to receive and process information prior to giving results. Informed consent forms are obtained prior to obtaining blood for testing. !he nurse would not reassure the client that it was not necessary to tell family members. !his is something the client will need to decide. !he nurse can suggest counseling6 if necessary6 but does not have to encourage the client to have counseling before giving her or him the results of testing. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 1@ $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: $ommunication and "ocumentation

7. Which client needs to undergo carrier genetic testing? a A middle3aged man whose father died at age <A of colorectal cancer

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!est an/ . b A young woman who has all the symptoms of rheumatoid arthritis . c A middle3aged woman whose mother died at age @, of breast cancer . d A young woman of (astern (uropean +ewish ancestry .

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ANS: " !he client who is of (astern (uropean +ewish ancestry would be the highest priority to undergo carrier genetic testing. It is /nown that Ash/ena?i +ews carry several genetic disorders. !he client with a family history of breast cancer and colorectal cancer would undergo predisposition testing. !he client with symptoms of rheumatoid arthritis would undergo symptomatic diagnostic testing. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 19 $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

). !he client has :ust completed his first session of genetic counseling with a medical3 surgical nurse. Which intervention will the nurse perform ne2t? a Assessing the phase of the grieving process that is most applicable to the client at . this time b As/ing the client to e2plain the various terms used by the nurse in the discussion . c "etermining if the client has ade8uate coping methods to deal with the . counseling process d As/ing the client to e2plain his e2pectations and how they may have changed . after the session ANS: " After any discussion about genetic ris/ or genetic testing6 the nurse should assess the client=s understanding of what was said. !he client may not be in the grieving process at this time. !he nurse does not have to as/ the client to e2plain each term after the session. >owever6 the nurse should have encouraged the client to as/ 8uestions throughout the session. !he nurse will not need to assess coping with the process6 but the counselor will assess coping with the diagnosis. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 1@ $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: $aring

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A. !he client has :ust completed genetic testing and received a negative result. !he client tells the nurse that he feels guilty because so many of his family members are carriers of a genetic disease while he is not. What is the nurse=s best response? a 1a/e certain that the client recogni?es that although he is not a carrier of the . disease6 he could still be symptomatic. b (ncourage the client to undergo a second round of testing to verify that the result . was accurate. c Arrange for the client to undergo counseling and offer support to him during this . time. d (mphasi?e to the client the importance of revealing his test results to other family . members. ANS: $ $lients who have negative genetic test results also need counseling and support. Some clients may have an unrealistic view of what a negative result means for their general health. *thers may feel guilty that they were BsparedC when some family members were not. !he client will not be symptomatic if he is not a carrier of the disease. A second round of testing is not recommended6 because there are rarely false3negatives with this type of testing. It is the client=s choice to reveal test results to family members and the nurse should not encourage him to do this. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 1@ $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: $aring

D. A client is not certain whether she and her family should participate in a genetic screening plan. She as/s the nurse why the E3lin/ed recessive disorder that has been noted in some of her family members is e2pressed in males more fre8uently than in females. What is the nurse=s best response? a B!he disease tends to show up in males because they don=t have a second E . chromosome to balance the e2pression of the gene.C b B*ne E chromosome of a pair is always inactive in females. !his inactivity . effectively negates the effects of the gene.C c B#emales are /nown to have more effective "NA repair mechanisms than males6 . thus negating the damage caused by the recessive gene.C d B(2pression of genes from the male=s F chromosome does not occur in females6 . so they are essentially immune to the effects of the gene.C ANS: A

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ecause the number of E chromosomes in males and females is not the same .1:,06 the number of E3lin/ed chromosome genes in the two genders is also une8ual. 1ales have only one E chromosome6 a condition called hemi?ygosity6 for any gene on the E chromosome. As a result6 E3lin/ed recessive genes have a dominant e2pressive pattern of inheritance in males and a recessive e2pressive pattern of inheritance in females. !his difference in e2pression occurs because males do not have a second E chromosome to balance the e2pression of any recessive gene on the first E chromosome. It is incorrect to say that one E chromosome of a pair is always inactive in females or that females have more effective "NA repair mechanisms than males. Also6 it is not true that females can be immune to the effects of a gene because genes from the male=s F chromosome are not e2pressed in females. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome < $lient Needs $ategory: >ealth -romotion and 1aintenance .#amily Systems0 Integrated -rocess: !eaching;%earning

15. !he client has been found to have a genetic mutation that increases his ris/ for colon cancer. >e tells the nurse that he does not want any of his family to /now about this result. What is the nurse=s best response? a BIt is re8uired by law that you inform your siblings and your children about this . result so that they also can be tested and monitored for colon cancer.C b BIt is not necessary to tell your siblings6 because they are adults6 but you should . tell your children so that they can be tested before they decide to have children of their own.C c BIt is not re8uired that you tell anyone about this result. >owever6 because your . siblings and children may also be at ris/ for colon cancer6 you should thin/ about how this information might help them.C d BIt is your decision to determine with whom6 if anyone6 you discuss this test . result. >owever6 if you do not tell any of your family members and they get colon cancer6 you could be held liable.C ANS: $ !his situation represents an ethical dilemma. It is the client=s decision whether to disclose the information. >owever6 the information can affect others in the client=s family. !he law does not re8uire the client to tell family members about the results6 nor can the client be held liable for not telling them. !he nurse may consider it ethically correct for the client to tell family members so that they can ta/e action to prevent the development of cancer6 but the nurse must respect the client=s decision. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome 7 $lient Needs $ategory: -sychosocial Integrity .!herapeutic $ommunications0 Integrated -rocess: $ommunication and "ocumentation

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!est an/ 11. Which statement indicates that the nursing student understands the difference between hydrogen and covalent bonds? a >ydrogen bonds are incompatible with proteins. . b >ydrogen bonds increase the fidelity of transcription and translation. . c >ydrogen bonds are less at ris/ for mutations than covalent bonds. . d >ydrogen bonds are not as tight and are less permanent than covalent bonds. .

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ANS: " >ydrogen bonding is more advantageous for cell division6 because less energy is needed to separate the strands. >ydrogen bonds are not incompatible with proteins and do not increase the fidelity of transcription or translation. !hey are also not at less ris/ for mutations6 because they separate easier. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. 7< %earning *utcome ) $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: Nursing -rocess .Assessment0

1,. Which statement is accurate regarding the function of ribosomes in protein synthesis? a !hey serve as an adaptor molecule to transport an amino acid to the site of protein . synthesis in the correct se8uence. b !hey serve as a coordinator molecule to allow reading of the m'NA and . placement of the correct amino acid by the t'NAs. c !hey allow interpretation of the "NA to determine the sense and antisense . strands. d !hey allow processing of synthesi?ed proteins to ensure that the final product is . physiologically active. ANS: 'ibosomes are present in the cytoplasm and uncover the codons on the m'NA so that the correct amino acids are placed into newly synthesi?ed protein chains. !hey do not function as an adaptor molecule for transport of an amino acid6 they do not allow interpretation of the "NA because they allow reading of m'NA6 and they do not allow processing of synthesi?ed proteins. !heir primary function in terms of protein synthesis is to allow the reading of the m'NA and placement of the correct amino acid by the t'NAs. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )5 %earning *utcome A $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: Nursing -rocess .Assessment0

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19. Which statement regarding genotype and phenotype is accurate? a #or autosomal recessive traits6 the phenotype is the same as the genotype. . b !he only trait in which phenotype always follows genotype is physiologic gender. . c When a phenotype is fully penetrant6 the trait is e2pressed in the hetero?ygous . person. d Genotype changes as a person ages6 whereas phenotype is not affected by the . aging process. ANS: A Genotype refers to the e2act alleles of a single gene trait. -henotype refers to the observable characteristics present when a gene is e2pressed. #or recessive traits6 because both alleles must be the same .homo?ygous0 for the gene to be e2pressed6 the phenotype and genotype are the same. "ominant traits are e2pressed in the phenotype6 even when the person=s genotype is hetero?ygous for the alleles. -hysiologic gender is not the only trait in which phenotype always follows genotype6 nor is a trait necessarily e2pressed in the hetero?ygous person because of a phenotype being fully penetrant. Also6 both phenotype and genotype6 as with other aspects of the genetic ma/eup of the individual6 are affected by the aging process. !he other statements are inaccurate descriptions of genotype and phenotype. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. 7D %earning *utcome D $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: Nursing -rocess .Assessment0

1<. Which statement best describes the concept of multifactorial inheritance? a A mutation in a single gene results in the e2pression of problems in a variety of . tissues and organs. b !he susceptibility to a problem is inherited as a single gene trait6 but development . of the problem is enhanced by environmental conditions. c A mutated gene is inherited6 but the results of e2pression of that gene are not . evident until middle or late adulthood. d Several genes are responsible for the mechanism of hearing and a mutation in any . one of them results in hearing impairment. ANS:

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1ultifactorial inheritance indicates an interaction between a genetic predisposition and the environment. Although the predisposition to developing a health problem may be inherited6 whether the problem is ever e2pressed is determined by environmental influences6 including lifestyle. Some common adult health problems that are multifactorial include hypertension6 obesity6 diabetes mellitus6 and some types of cancer. 1ultifactorial inheritance does not refer to mutations in one gene that result in problems in many tissues and organs. Although it is true that a gene mutation may not become evident until later in life6 this is not the definition of multifactorial inheritance. It does not refer to mutations in several genes or to conditions in which several genes are involved. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )< %earning *utcome 11 $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: Nursing -rocess .Assessment0

1@. A client tells the nurse that his father has hemochromatosis. Which type of genetic testing would be the primary type that is most appropriate for the client to have? a -resymptomatic testing . b -redisposition testing . c "iagnostic testing . d $arrier testing . ANS: " >ereditary hemochromatosis is an autosomal recessive disorder. Genetic testing to see whether the client has the disease would not be performed because other nongenetic tests that are less e2pensive can determine whether the client has the disorder. !he purpose of genetic testing for this client would be to determine whether he or she has one mutated gene allele .is a carrier0 and could transmit this disorder to his or her children. All genetic testing is diagnostic in nature. -resymptomatic genetic testing is used with >untington disease. -redisposition testing is used with colorectal cancer and breast cancer. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )@6 !able 739 %earning *utcome 1< $lient Needs $ategory: -hysiological Integrity . asic $are and $omfort0 Integrated -rocess: Nursing -rocess .Assessment0

17. Which disorder 8ualifies a client for presymptomatic diagnostic genetic testing? a $olorectal cancer . b >untington disease .

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!est an/ c >emophilia . d !ay Sachs disease . ANS: *f the disease processes listed6 the only one that would ma/e a client a candidate for presymptomatic diagnostic genetic testing is >untington disease. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )@6 !able 739 %earning *utcome 15 $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

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1). Which disorder presents a need for predisposition genetic testing? a >untington disease . b Sic/le cell disease . c >emophilia . d reast cancer . ANS: " *f the disease processes listed6 the only one that would ma/e a client a candidate for predisposition diagnostic genetic testing is breast cancer. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )@6 !able 739 %earning *utcome 15 $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

1A. !he client6 whose mother has >untington disease6 is considering genetic testing but is not sure whether she really wants to /now if she has the mutation. She as/s what the nurse would do in her situation. What is the nurse=s best response? a BI would have the test so I could decide whether to have children or to adopt . children.C b BI can only tell you the benefits and the ris/s of testing. Fou must ma/e this . decision yourself.C c B ecause there is no cure for this disease and testing would not be beneficial6 I . would not have the test.C d BFou need to chec/ with your brothers and sisters to determine whether testing . for this disease would be appropriate for you.C

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ANS: Any level of genetic counseling re8uires the counselor to be nondirective. !he counselor must ensure that the client has ade8uate and accurate information on which to base the decision but cannot suggest or direct the client to test or not to test. !he client may wish to discuss the issue with her family but ultimately the decision about testing can only be made by the client. "I#: * +: !*-: $are0 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome , $lient Needs $ategory: Safe and (ffective $are (nvironment .1anagement of Integrated -rocess: Nursing -rocess .Implementation0

1D. !he client who has been found to have a mutation in the BRCA1 gene allele and an increased ris/ for breast and ovarian cancer has as/ed the nurse to be present when she discloses this information to her adult daughter. What is the nurse=s role in this situation? a !o act as the primary health care provider . b !o function as a genetic counselor . c !o serve as a client advocate . d !o provide client support . ANS: " !he nurse should be supporting the client emotionally while she tells her daughter the information she has learned about the test results. !he nurse should not interpret the results or counsel the client or her daughter. !he nurse should refer the client for counseling or support6 if necessary. "I#: * +: !*-: 1S$: $ognitive %evel: Application '(#: N;A for Application and above %earning *utcome @ $lient Needs $ategory: -sychosocial Integrity .Support Systems0 Integrated -rocess: Nursing -rocess .Implementation0

M!"TI#"E &ES#%NSE 1. What client diagnosis indicates a need for carrier genetic testing? (Select all that apply.) a $olorectal cancer . b >untington disease .

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!est an/ c . d . e . f . g . Sic/le cell disease >emophilia reast cancer $ystic fibrosis !ay Sachs disease

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ANS: $6 "6 #6 G *f the disease processes listed6 the ones that would ma/e the client a candidate for carrier genetic testing would be sic/le cell disease6 hemophilia6 cystic fibrosis6 and !ay Sachs disease. Although colorectal cancer6 >untington disease6 and breast cancer all have genetic components6 there is no evidence that carrier genetic testing would be beneficial in diseases such as these. "I#: * +: !*-: 1S$: $ognitive %evel: $omprehension '(#: p. )@6 !able 739 %earning *utcome 15 $lient Needs $ategory: -hysiological Integrity .'eduction of 'is/ -otential0 Integrated -rocess: Nursing -rocess .Assessment0

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