Chapter: Chapter 09: Genetics and Genomics Perspectives in Nursing Multiple Choice 1. A baby is born ith hat the physician believes is a diagnosis o! trisomy "1. # his means that the in!ant has three number "1 chromosomes. $hat !actor describes this genetic change% A& #he mother al so has genetic mutation o! chromosome "1. '& #he patient has a nondis(unction occurring during meiosis. C& )uring meiosis* a reduction o! chromosomes resulted i n "+. )& #he patient ill have a single , chromosome and in!er tility. Ans: ' Chapter: 9 Client Needs: ' Cognitive -evel: Comprehension )i!!iculty: Moderate ntegrated Process: Nursing Process /b(ective: + Page and eader: 1""* ntegrating Genetic and Genomic noledge 2eedbac3: )uring meiosis* a pair o! chromosomes may !ail to separate completely * creating a sperm or oocyte that contains either to copies or no copy o! a particular chromosome. #his sporadic event* called nondis(unction* can lead to trisomy. )on syndrome is an e4ample o! trisomy. #he mother does not have a mutation o! chromosome "1* hich is indicated in the 5uestion. Also* #r isomy does not produce a single , ch romosome and in!ertility. Genes are pac3aged and arranged in a linear order ithin chromosomes* hich are located in the cell nucleus. n humans* 67 chromosomes occur in pairs in all body cells e4cept oocytes and sperm* hich contain only "+ chromosomes. ". #he nurse is noti !ied that she is r eceiving a nepatient and that the patient8s old charts have been ordered to the !loor. $hen the old charts arrive* the nurse loo3s through them and notes the patient has a gene mutation that a!!ects protein structur e* producing hemoglobin . #he nurse 3nos that ith this gene mutation* the patient ill e4periences symptoms o! hat%
Chapter: Chapter 09: Genetics and Genomics Perspectives in Nursing
Multiple Choice
1. A baby is born ith hat the physician believes is a diagnosis o! trisomy "1. #his means thatthe in!ant has three number "1 chromosomes. $hat !actor describes this genetic change%
A& #he mother also has genetic mutation o! chromosome "1.'& #he patient has a nondis(unction occurring during meiosis.
C& )uring meiosis* a reduction o! chromosomes resulted in "+.
)& #he patient ill have a single , chromosome and in!ertility.
Page and eader: 1""* ntegrating Genetic and Genomic noledge
2eedbac3: )uring meiosis* a pair o! chromosomes may !ail to separate completely* creating a
sperm or oocyte that contains either to copies or no copy o! a particular chromosome. #his
sporadic event* called nondis(unction* can lead to trisomy. )on syndrome is an e4ample o!
trisomy. #he mother does not have a mutation o! chromosome "1* hich is indicated in the5uestion. Also* #risomy does not produce a single , chromosome and in!ertility. Genes are
pac3aged and arranged in a linear order ithin chromosomes* hich are located in the cell
nucleus. n humans* 67 chromosomes occur in pairs in all body cells e4cept oocytes and sperm*hich contain only "+ chromosomes.
". #he nurse is noti!ied that she is receiving a ne patient and that the patient8s old charts have
been ordered to the !loor. $hen the old charts arrive* the nurse loo3s through them and notes the patient has a gene mutation that a!!ects protein structure* producing hemoglobin . #he nurse
3nos that ith this gene mutation* the patient ill e4periences symptoms o! hat%
C& Metastasis o! a glioblastoma)& Amyotrophic lateral sclerosis
Ans: 'Chapter: 9
Client Needs: );6
Cognitive -evel: Application)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: +
Page and eader: 1"+* ntegrating Genetic and Genomic noledge
2eedbac3: ic3le cell anemia is an e4ample o! a genetic condition caused by a small gene
mutation that a!!ects protein structure* producing hemoglobin . A person ho inherits to
copies o! the hemoglobin gene mutation has sic3le cell anemia and e4periences the symptomso! severe anemia and thrombotic organ damage resulting in hypo4ia. Amyotrophic lateral
sclerosis is a neurodegenerative disease that can occur as a result o! an inherited mutation but nota mutation o! hemoglobin . #he patient ith sic3le cell anemia may e4perience edema* but it
ould not be related to the gene mutation. A glioblastoma is a neurologic tumor.
+. )uring the admission assessment* the nurse notes many ca!<;au;lait spots on the patient8strun3* bac3* nec3* and legs and suspects the patient has neuro!ibromatosis. #he patient8s chart
con!irms that the patient does have neuro!ibromatosis type 1. 'ased on the nurse8s 3noledge o!
neuro!ibromatosis* the nurse understands that a single !amily member has hat%A& A spontaneous mutation
'& A germline mutation
C& A nondis(unction)& A monosomy
Ans: A
Chapter: 9Client Needs: );6
Cognitive -evel: Application
)i!!iculty: )i!!icultntegrated Process: Nursing Process
/b(ective: +
Page and eader: 1"+* ntegrating Genetic and Genomic noledge
2eedbac3: pontaneous mutations ta3e place in individual oocytes or sperm at the time o!
conception. #hese mutations are not inherited in other !amily members. oever* a person ho
carries the ne =spontaneous> mutation may pass on the mutation to his or her children.
Achondroplasia* Mar!an syndrome* and neuro!ibromatosis type 1 are e4amples o! genetic
conditions that may occur in a single !amily member as a result o! spontaneous mutation.
Germline mutations are passed on to all daughter cells hen body cells replicate. )uringmeiosis* a pair o! chromosomes may !ail to separate completely* creating a sperm or oocyte that
contains to copies or no copy o! a particular chromosome. #his sporadic event* called
nondis(unction* can lead to either trisomy or a monosomy.
6. A 6?;year;old man has (ust been diagnosed ith untington disease. e and his i!e are
concerned about their !our children. $hat ill the nurse e4plain about the children8s possibility
o! inheriting the gene !or the disease%A& ach child ill have a "?@ chance o! inheriting the disease.
'& ach child ill have a ?0@ chance o! inheriting the disease.
C& ach child ill have a ?@ chance o! inheriting the disease.
)& ach child ill have no chance o! inheriting the disease.
Page and eader: 1"6* ntegrating Genetic and Genomic noledge
2eedbac3: untington disease is an autosomal dominant disorder. Autosomal dominant inherited
conditions a!!ect !emale and male !amily members e5ually and !ollo a vertical pattern o!inheritance in !amilies. A person ho has an autosomal dominant inherited condition carries a
gene mutation !or that condition on one chromosome pair. ach o! that person8s o!!spring has a
?0@ chance o! inheriting the gene mutation !or the condition and a ?0@ chance o! inheriting thenormal version o! the gene. 'ased on this in!ormation* the choices o! "?@* ?@* or no chance o!
inheriting the disease are incorrect.
?. A young oman and her husband ant to start a !amily. #he young oman e4plains to thenurse that she had a retinoblastoma as a child. #he oman and her husband are concerned about
the chances o! their son or daughter developing a retinoblastoma. $hat is important !or the nurse
to e4plain to the couple%A& Betinoblastoma is an autosomal recessive inheritance in hich each parent carries the gene
mutation.
'& Betinoblastoma is an ,;lin3ed inheritance and all males inherit an , chromosome !rom their
C& Betinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can
s3ip a generation.
)& Betinoblastoma is a pattern that is more horiontal than verticalD relatives o! a singlegeneration tend to have the condition.
Ans: CChapter: 9
Client Needs: );6
Cognitive -evel: Application)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: 1
Page and eader: 1"6* ntegrating Genetic and Genomic noledge
2eedbac3: Betinoblastoma is an autosomal dominant inheritance that has incomplete penetrance*
and the gene appears to s3ip a generation* thus leading to errors in interpreting !amily history and
in genetic counseling. Autosomal recessive conditions have a pattern that is more horiontal thanverticalD relatives o! a single generation tend to have the condition. Genetic conditions inherited
in an autosomal recessive pattern are !re5uently seen among particular ethnic groups and usuallyoccur more o!ten in children o! parents ho are related by blood* such as !irst cousins. ,;lin3ed
conditions may be inherited in recessive or dominant patterns. n both* the gene mutation is
located on the , chromosome.
7. A 6;year;old oman ith osteoarthritis and hypertension is diagnosed ith breast cancer.
he tells the nurse that her mother also su!!ered !rom osteoarthritis and hypertension* and she
developed breast cancer at the age o! ?1 years. $hat ould the nurse e4plain this could be aresult o!%
A& An ,;lin3ed inheritance
'& An autosomal recessive inheritanceC& An autosomal dominant inheritance
mutations and environmental in!luences. #hus* they are called multi!actorial or comple4
conditions. #he other ansers are incorrect because ,;lin3ed conditions* autosomal recessive
conditions* and autosomal dominant conditions are not caused by the interactions o! multiplegene mutations and environmental in!luences.
. A ne patient has come to the clinic. $hile the nurse is ta3ing the patient8s history* the patienttells the nurse she is trying to get pregnant and she is very !ear!ul she ill have another
miscarriage. he states she has lost to pregnancies and she shares ith the nurse that she does
not 3no hy she lost the babies. 'ased on this patient8s history* hat recommendation should
the nurse ma3e at the present time%A& nstruct her to continue to try to get pregnant.
'& -et the patient 3no that her loss may not occur again.
C& nstruct her on chromosome testing studies.
)& #ell her to have an amniocentesis ith the ne4t pregnancy.
Ans: CChapter: 9
Client Needs: A;1
Cognitive -evel: Application)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: "
Page and eader: 1"* ntegrating Genetic and Genomic noledge
2eedbac3: At the present time* the nurse should instruct the oman on chromosome studies.
Chromosome studies may be needed at any age* depending on the indication. #o commonindications are a suspected diagnosis such as )on syndrome and a history o! to or more
une4plained pregnancy losses* hich the oman has described. #he other ansers are incorrect
because instructing the oman to continue to try to get pregnant is redundant. #he oman hasalready said she is trying to get pregnant. he should have an amniocentesis ith the ne4t
pregnancy* but this is not as imperative as the chromosome studies. #elling the patient she ill
not e4perience another loss ould be a belittling response. t is her choice to have the
chromosome studies* but it is important that the nurse e4plain all the ris3s surrounding pregnancy and pregnancy loss based on the patient8s history.
E. A community health nurse is visiting her 17;year;old patient* a ne mother. #he nursee4plains to the patient and her mother the genetic screening that is re5uired by the state8s la.
#he patient as3s hy it is important to have the testing done on the in!ant. $hat is the nurse8s
best response%
A& =Genetic testing is a ay to determine the rate o! in!ectious disease.>
'& =t is important to test neborns !or PF* congenital hypothyroidism* and galactosemia.>
C& =PF* congenital hypothyroidism* and galactosemia are conditions that could result in
disability or death i! untreated.>)& =#his testing is re5uired and you ill not be able to re!use it. t usually is !ree so there is no
reason to re!use it.>
Ans: C
Chapter: 9
Client Needs: 'Cognitive -evel: Comprehension
)i!!iculty: Moderate
ntegrated Process: Nursing Process
/b(ective: 6Page and eader: 1"E* Genetic and Genomic #echnologies in Practice
2eedbac3: #he !irst aim is to improve management* that is* identi!y people ith treatable genetic
conditions that could prove dangerous to their health i! le!t untreated. #he other ansers areincorrect because genetic testing does not determine the rate o! in!ectious disease. Anser '
does not ade5uately e4plain the rationale !or neborn testing. Anser ) !ails to in!orm the patient o! the rationale !or neborn testing.
9. A ?0;year;old oman presents at the clinic ith complaints o! !orget!ulness and (er3y
movements o! her head. #he patient tells the nurse that every day she !orgets one to to tas3s oritems in her daily routine. he states her mother had some 3ind o! mental illness in hich she
had to be institutionalied at age 6" and passed aay at age 6?. he stated* =My mother !orgot
ho e ere hen she as institutionalied.> 'ased on this in!ormation* hat does the nursesuspect%
A& untington disease
'& eart diseaseC& Cerebrovascular accident
)& Alheimer8s disease
Ans: )Chapter: 9
Client Needs: );1
Cognitive -evel: Application)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: 1Page and eader: 1+1* Genetic and Genomic #echnologies in Practice
2eedbac3: Nurses must be alert !or !amily histories indicating that multiple generations
autosomal dominant inheritance& or multiple siblings autosomal recessive inheritance& are
a!!ected ith the same condition or that onset o! disease is earlier than e4pected multiple
generations ith early onset&. $hen a !amily history o! disease is identi!ied* the nurse must be
responsible !or ma3ing the patient aare that this !amily history is a ris3 !actor !or disease.Ansers A* '* and C are incorrect because untington disease is noted ith mental
deterioration* but the patient presents ith (er3y movements o! the head and limbs. eart disease
and cerebrovascular accident can occur in a oman her age* but there is no evidence o! theseconditions in the patient scenario.
10. #he occupational health nurse is conducting yearly vision and hearing screenings. A ?0;year;
old man states* =My !ather had colon cancer. really don8t understand hy they recommend acolonoscopy.> #he occupational health nurse e4plains the need !or a colonoscopy and provides
the patient ith additional ritten in!ormation. $hat could the nurse do to provide in!ormation
to more individuals%
A& Plan a health !air !or the employees that provides in!ormation about age;related diseases.'& Be!er every employee over the age o! ?0 to a gastroenterologist !or a screening colonoscopy.
C& Provide instruction on diet and e4ercise as it relates to the prevention o! colon cancer in people over ?0.
)& Place brochures in the nurses8 !acility !or the employees to access in ansering their
5uestions.
Ans: A
Chapter: 9
Client Needs: );+Cognitive -evel: Application
)i!!iculty: )i!!icult
ntegrated Process: Nursing Process/b(ective: 1
Page and eader: 1+"* Genetic and Genomic #echnologies in Practice
2eedbac3: #he advantage o! a health !air is that it ill provide in!ormation on all age;related
diseases and the prevention o! disease. t ould be impossible !or the nurse to re!er all
employees over the age o! ?0 to a gastroenterologist. n the provision o! instruction on diet and
e4ercise* this is a good health;promotion intervention by does not address the need !or screening.Placing brochures in the nurses8 !acility ill provide in!ormation to a group o! people but ill
not have the net a!!ect that a health !air can in educating people on genetic and li!estyle;related
diseases.
11. Hou are the nurse at a genetics clinic. Hou are revieing the health and genetic history o! a
oman hose mother died o! breast cancer. t is important that you document genetic history
appropriately. $hich o! the !olloing is the most important !actor documented in the patient8s
A& #hree generations o! in!ormation about the !amily
'& Current medications ta3enC& Adverse drug reactions
)& mmuniations received !or the past three generations
Ans: A
Chapter: 9
Client Needs: );1Cognitive -evel: Comprehension
)i!!iculty: Moderate
ntegrated Process: Nursing Process
/b(ective: "Page and eader: 1+6* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: A ell;documented !amily history is a tool used by the health care team to ma3e a
diagnosis* identi!y teaching strategies* and establish a pattern o! inheritance. #he !amily historyshould include at least three generations* as ell as in!ormation about the current and past health
status o! all !amily members* including the age o! onset o! any illnesses and cause o! death andage at death. n!ormation on current medications* adverse drug reactions* and immuniations are
important !actors to be gathered in the health history but are not part o! the genetic history.
1". A couple ants to start a !amily. #hey are concerned that their child ill be at ris3 !or cystic!ibrosis because they each have a cousin ith cystic !ibrosis. #hey are seeing a nurse practitioner
!or preconceptual counseling. $hat ould the nurse practitioner tell them about cystic !ibrosis%
A& t is an autosomal dominant disorder.'& t is passed by mitochondrial inheritance.
C& t is an ,;lin3ed inherited disorder.
)& t is an autosomal recessive disorder.
Ans: )
Chapter: 9
Client Needs: );+Cognitive -evel: Application
)i!!iculty: )i!!icult
ntegrated Process: Nursing Process/b(ective: "
Page and eader: 1+?* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Cystic !ibrosis is autosomal recessive. Nurses also consider other issues hen
assessing the ris3 !or genetic conditions in couples and !amilies. 2or e4ample* hen obtaining a
preconception or prenatal !amily history* the nurse as3s i! the prospective parents have common
ancestors. #his is important to 3no because people ho are related have more genes in
common than those ho are unrelated* thus increasing their chance !or having children ith
autosomal recessive inherited condition such as cystic !ibrosis. Mitochondrial inheritance occurs
ith de!ects in energy conversion and a!!ects the nervous system* 3idney* muscle* and liver. ,;lin3ed inheritance* hich has been inherited !rom a mutant allele o! the mother* a!!ects males.
Autosomal dominant is an ,;lin3ed dominant genetic disease.
1+. A pregnant oman has a child at home ho has been diagnosed ith neuro!ibromatosis 1.
he as3s the nurse hat she should loo3 !or in the ne baby that ould indicate that it also has
neuro!ibromatosis 1. $hat sign should the nurse instruct the oman to loo3 !or in the ne baby%
A& ncreased urination'& Pro(ectile vomiting
C& Ca!<;au;lait spots
)& ,anthoma
Ans: C
Chapter: 9Client Needs: );+
Cognitive -evel: Application
)i!!iculty: )i!!icultntegrated Process: Nursing Process
/b(ective: "
Page and eader: 1+?* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Physical assessment may provide clues that a particular genetic condition is present
in a person and !amily. 2amily history assessment may o!!er initial guidance regarding the
particular area !or physical assessment. 2or e4ample* a !amily history o! neuro!ibromatosis type1* an inherited condition involving tumors o! the central nervous system* ould prompt the nurse
to carry out a detailed assessment o! closely related !amily members. 3in !indings such as ca!<;
au;lait spots* a4illary !rec3ling* or tumors o! the s3in neuro!ibromas& ould arrant re!erral !or!urther evaluation* including genetic evaluation and counseling. A !amily history o! !amilial
hypercholesterolemia ould alert the nurse to assess !amily members !or symptoms o!
hyperlipidemias 4anthomas* corneal arcus* abdominal pain o! une4plained origin&. As another
e4ample* increased urination could indicate type 1 diabetes. Pro(ectile vomiting is indicative o! pyloric stensosis.
16. A 67;year;old man* estranged !rom his siblings* has begun shoing signs o! dementia andhas been diagnosed ith Alheimer8s disease. #he nurse tells him ho important it is that he
in!orm his siblings o! his disease. e re!uses stating* = don8t ant them to 3no. -et them !ind
out on their on.> $hat should the nurse do%
A& Call the patient8s brother and in!orm him o! his ris3 !or development o! Alheimer8s disease.
'& Noti!y the geneticist and have him instruct the patient on his siblings8 and parents8 ris3.
C& Noti!y the siblings8 physician about the patient8s ris3 !or development o! Alheimer8s disease.
)& nstruct the patient on the importance o! noti!ying the siblings and 3eep his in!ormationcon!idential.
Ans: )Chapter: 9
Client Needs: );+
Cognitive -evel: Application)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: 6
Page and eader: 1+E* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: #he nurse must honor the patient8s ishes hile e4plaining to the patient the potential
bene!it this in!ormation may have to other !amily members. nvolving the geneticist in the
patient8s care is very important* but noti!ying !amily members or physicians ould be a breach o! con!identiality. A nurse may ant to disclose genetics in!ormation to !amily members ho could
e4perience signi!icant harm i! they do not 3no such in!ormation. oever* the patient mayhave other vies and may ish to 3eep this in!ormation !rom the !amily* resulting in an ethical
dilemma !or patient and nurse.
1?. #o parents ith to recessive genes each !or si4 toes have hat chance they ill have achild ith si4 toes%
A& "?@
'& ?0@C& ?@
)& 100@
Ans: A
Chapter: 9
Client Needs: );6
Cognitive -evel: Analysis)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: +Page and eader: 1"?* ntegrating Genetic and Genomic noledge
2eedbac3: $hen to carrier parents have children together* they have a "?@ chance o! having achild ho inherits the gene mutation !rom each parent and ho ill have the condition. #he
other ansers are incorrect because these parents chance o! having a child ith si4 toes are not
17. An older pregnant oman has come to the clinic !or her !irst prenatal visit. he as3s the
nurse about age guidelines !or genetic counseling and prenatal testing. #he nurse in!orms the
patient that genetic counseling and prenatal testing should be per!ormed !or all pregnant omenin hich age group%
A& 1E to "?
'& "? to +0C& +? and older
)& 1E and under
Ans: CChapter: 9
Client Needs: '
Cognitive -evel: Application
)i!!iculty: Moderatentegrated Process: Nursing Process
/b(ective: "Page and eader: 1"7* ntegrating Genetic and Genomic noledge
2eedbac3: $omen ho are +? years o! age or older have an increasing chance !or giving birth toin!ants ith chromosomal di!!erences* including an e4tra or missing chromosome.
1. A 60;year;old man ho has been separated !rom his !ather since birth tells the nurse that his
!ather recently contacted him to in!orm him that he is dying o! untington disease. $hat is anessential psychosocial component o! care !or this patient%
A& Assist the patient in determining signs o! neuromuscular ea3ness
'& nstruct the !amily on the potential side e!!ects o! medicationsC& valuate the e!!ect o! anti;an4iety medications on the patient8s mood
)& Provide genetic counseling* evaluation* and testing !or the disease
evaluation* and testing process. #he other ansers are incorrect because assisting the patient in
determining the signs o! neuromuscular ea3ness ill assist in the psychosocial component o!
the patient8s care but has a greater e!!ect on the physical aspects o! patient care. nstructing the!amily on the potential side e!!ects o! medications is important in the care o! the patient both
psychosocially and medically. valuating the e!!ect o! anti;an4iety medications is important in
the psychosocial care o! the patient but ill not be necessary i! the patient is not ta3ing thesemedications.
1E. A nurse is teaching a class to a group o! nely diagnosed patients ith type 1 diabetes. #he
discussion today is on the e!!ect o! diet and e4ercise as it relates to blood sugar. $hat is thisintervention an e4ample o!%
A& Psychosocial caring
'& Coping enhancement
C& Genetic counseling)& )ecision;ma3ing support
Ans: '
Chapter: 9
Client Needs: );+Cognitive -evel: Application
)i!!iculty: )i!!icult
ntegrated Process: Nursing Process
/b(ective: 1Page and eader: 1+* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Coping enhancement involves helping people adapt to perceived stressors or changesthat inter!ere ith daily living and !unctioning. #he other ansers are incorrect because hile
psychosocial caring is important in the provision o! care !or patients ith #ype 1 diabetes* it is
not related to diet and e4ercise e!!ects on blood sugar. )ecision;ma3ing support is an importantnursing intervention in many genetic counseling situations. #his scenario does not involve
genetic counseling.
19. An A!rican American couple presents !or a genetic counseling appointment. #hey are pregnant and are concerned about their child. $hat ould a patient o! A!rican American heritage
2eedbac3: #o meet the challenges o! personalied medicine* nurses must understand the ne
technologies and treatments o! genetic; and genomic;based health care. #he other ansers are
incorrect because the nursing care in personalied medicine is holistic* not personalied medicineitsel!.
"". $hen genetics and genomics ere incorporated into nursing* the decision as made toinclude them in hat part o! the nursing process%
A& nterventions that support identi!ication o! the genetics;related health needs o! people
'& Besponses to nursing interventions that support generalied nursing careC& #he planning o! interventions that address the medical genetic needs o! people
)& #he psychosocial assessment o! the genetic needs o! people
Ans: AChapter: 9
Client Needs: '
Cognitive -evel: Application)i!!iculty: Moderate
ntegrated Process: Nursing Process
/b(ective: 1Page and eader: 1"0* ntroduction
2eedbac3: #he incorporation o! genetics and genomics into nursing means including genetics
and genomics in health assessments* planning* and interventions that support identi!ication o!and response to the changing genetics;related health needs o! people. #he other ansers are
incorrect because the responses measured in genomic nursing care are not to generalied nursing
care* nurses do not plan medical interventions* and interventions are not planned in theassessment phase o! nursing care.
"+. $hat is nursing8s uni5ue contribution to genomic medicine%
)i!!iculty: Moderatentegrated Process: Nursing Process
/b(ective: 1
Page and eader: 1"0* Genomic 2rameor3 !or Nursing Practice
2eedbac3: #he uni5ue contribution o! nursing to genomic medicine is its holistic perspective
that ta3es into account each person8s intellectual* physical* spiritual* social* cultural*
biopsychologic* ethical* and esthetic e4periences. #he other ansers are incorrect because
nursing8s assessment and evaluation capabilities are used in all areas here nursing is practiced. Nursing does not have biopsychologic e4periences.
"6. n genetic and genomic medicine* hat do nurses help both individuals and !amilies
understand%
A& o genetic and psychological !actors in!luence ee3ly rituals
'& o genomic and physical !actors in!luence longevityC& o genetic and environmental !actors in!luence health and disease
)& o physical !actors in!luence genetics and ellness
Ans: C
Chapter: 9
Client Needs: 'Cognitive -evel: Comprehension
)i!!iculty: Moderate
ntegrated Process: #eachingI-earning
/b(ective: 1Page and eader: 1"0* Genomic 2rameor3 !or Nursing Practice
2eedbac3: Nurses help individuals and !amilies learn ho genetic traits and conditions are passed on ithin !amilies as ell as ho genetic and environmental !actors in!luence health and
disease. #he other ansers are incorrect because in personalied medicine* nurses do not help
individuals and !amilies understand ho anything in!luences ee3ly rituals or longevity.Physical !actors do not in!luence genetics.
"?. #he nurse in the genetics clinic is gathering a !amily history. #he patient has as3ed a
5uestion to hich the nurse does not 3no the anser. $hat ould the nurse 3no to do%A& As3 the geneticist !or the anser
'& 2ind the anser to the patient8s 5uestion in the o!!ice resource boo3s
C& 2ind the anser to the patient8s 5uestion on the nternet)& 2inish the !amily history and conduct a health history along ith physical and developmental
assessments
Ans: )
Chapter: 9
Client Needs: A;1
Cognitive -evel: Comprehension)i!!iculty: asy
ntegrated Process: Nursing Process
/b(ective: "
Page and eader: 1"0* Genomic 2rameor3 !or Nursing Practice
2eedbac3: All nurses should be able to recognie hen a patient is as3ing a 5uestion related togenetic or genomic in!ormation and should 3no ho to obtain genetics in!ormation by
gathering !amily and health histories and conducting physical and developmental assessments.
#he other ansers are incorrect.
"7. A !amily history that is obtained as a nursing assessment is the !irst step in hat%
A& stablishing the pattern o! inheritance
'& stablishing a pedigreeC& Ansering the patient8s genetic 5uestions
)& Ansering !amilies8 relationship 5uestions
Ans: A
Chapter: 9
Client Needs: A;1
Cognitive -evel: Comprehension)i!!iculty: asy
ntegrated Process: Nursing Process
/b(ective: "Page and eader: 1"6* ntegrating Genetic and Genomic noledge
2eedbac3: Nursing assessment o! the patient8s health includes obtaining and recording !amilyhistory in!ormation in the !orm o! a pedigree. #his is a !irst step in establishing the pattern o!
inheritance. #he other ansers are incorrect because the pedigree is the nursing assessment. A
nursing assessment o! a !amily history does not anser the patient8s genetic 5uestions or the
a genetic test associated ith it is the early;onset !orm o! Alheimer8s disease. $hen you are
doing the !amily history o! the patient* the geneticist has not seen the patient yet so he or she
ould have no recommendations. #he third cousin once removed is not ithin three generationso! the patient so he or she ould have no impact.
"9. A couple have come to the genetics clinic !or their !irst visit. n ta3ing their history* the nurselearns that they are Ash3enai Jes. $hat ould this couple be genetically screened !or%
A& untington disease
'& #risomy "1
C& Alheimer8s disease)& Canavan disease
Ans: )
Chapter: 9Client Needs: A;1
Cognitive -evel: Application)i!!iculty: Moderate
ntegrated Process: Caring
/b(ective: +Page and eader: 1"E* Genetic and Genomic #echnologies in Practice
2eedbac3: #he second aim is to provide reproductive options to people ith a high probability
o! having children ith severe* untreatable diseases and !or hom genetic counseling* prenataldiagnosis* and other reproductive options could be help!ul and o! interest. 2or e4ample* people
o! Ash3enai Jeish descent Jes o! astern uropean origin& are screened !or conditions such
as #ay;achs disease and Canavan disease. #he other ansers are incorrect because untingtondisease* trisomy "1* and Alheimer8s disease are not associated ith the Ash3enai Jes.
+0. A oman ith both heart disease and osteoarthritis has come to the genetics clinic !or
genetic screening. $hat ould the nurse 3no about these to diseases%A& #hey are multi!actorial.
'& #hey are direct result o! the patient8s li!estyle.
C& #hey are caused by a single gene.)& #hey do not have a genetic basis.
ntegrated Process: Communication and )ocumentation
/b(ective: +
Page and eader: 1"E* Genetic and Genomic #echnologies in Practice
2eedbac3: Genomic or multi!actorial in!luences involve interactions among several genes
geneKgene interactions& and beteen genes and the environment geneKenvironmentinteractions&* as ell as the individual8s li!estyle.
+1. $hat has served as the model !or presymptomatic testing%
A& Alheimer8s disease'& untington disease
C& #ay;achs disease
)& ic3le cell disease
Ans: '
Chapter: 9Client Needs: );6
Cognitive -evel: noledge
)i!!iculty: asyntegrated Process: Nursing Process
/b(ective: +
Page and eader: 1+1* Genetic and Genomic #echnologies in Practice
2eedbac3: untington disease has served as the model !or presymptomatic testing because the
presence o! the genetic mutation predicts disease onset and progression. #he other ansers are
incorrect because they are not the model !or presymptomatic testing.
+". #hree sisters decide to have genetic testing done because their mother and their maternal
grandmother died o! breast cancer. ach o! the sisters has the BRCA1 gene mutation. #he nurse
e4plains that (ust because they have the gene does not mean that they ill develop breast cancer.$hat does the nurse e4plain their chances o! developing breast cancer depend on%
A& #heir li!estyles
'& $hat other gene mutations they haveC& Penetrance
/b(ective: +Page and eader: 1"6* ntegrating Genetic and Genomic noledge
2eedbac3: A oman ho has the BRCA1
hereditary breast cancer gene mutation has a li!etimeris3 o! breast cancer that can be as high as E0@* not 100@. #his 5uality* 3non as incomplete
penetrance* indicates the probability that a given gene ill produce disease. #he other ansers
are incorrect because li!estyles* other gene mutations* and susceptibility are not the deciding!actor in getting breast cancer i! you have the BRCA1 gene mutation.
++. Hou are seeing a patient ho is going to be married in a month. #here is a history o!
untington disease in her !amily. #he genetic testing has come bac3 and the patient has (ust been
told she carries the gene !or untington disease and ill develop the disease hen she gets older.#he patient as3s you i! this in!ormation is con!idential and i! it ill remain that ay. Hou e4plain
to the patient that her !amily should be told and so should her !ianc<. #he patient !orce!ully tellsyou =no.> he is not going to tell either her !amily or her !ianc<. $hat is the nurse8s best
response%
A& am ethically bound to tell your !amily and your !ianc<.'& Hour in!ormation ill remain con!idential until the geneticist revies everything. #hen he
ill have to tell your !amily.
C& ave you thought about hat this disease ill do to the person you are going to marry and
any children you may have%)& ill respect your ishes and 3eep your in!ormation con!idential. do ish you ould
reconsider though.
Ans: )
Chapter: 9
Client Needs: CCognitive -evel: Application
)i!!iculty: Moderate
ntegrated Process: Caring
/b(ective: +Page and eader: 1+E* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: #he nurse must honor the patient8s ishes hile e4plaining to the patient the potential bene!it this in!ormation may have !or other !amily members. #he other ansers are incorrect
because the nurse has to honor the ishes o! her patient.
+6. $hat legislation has as its purpose to protect Americans against improper use o! genetic and
/b(ective: 6Page and eader: 1+9* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Nurses need to become !amiliar ith the Genetic n!ormation Nondiscrimination Act
GNA&* hich as signed into la in "00E. ts purpose is to protect Americans against improper use o! genetic and genomic in!ormation in insurance and employment decisions. #he other
ansers are incorrect because they don8t e4ist.
+?. A panish;spea3ing couple comes in !or genetic testing. #hey are planning to start a !amily
and are concerned because the i!e8s sister has cystic !ibrosis. #he clinic8s consent !orm is in
nglish and the husband is illiterate and spea3s only panish. #he nurse does not spea3 panish.$hat should the nurse do%
A& n!orm the patients they (ust needed to sign so the testing could be done.
'& n!orming the geneticist that the couple cannot give in!ormed consent.C& -et the i!e translate !or her husband.
)& 4plain the !orm to the patient in nglish and have him sign it.
Ans: '
Chapter: 9
Client Needs: A;1
Cognitive -evel: Application)i!!iculty: Moderate
ntegrated Process: Caring
/b(ective: 6Page and eader: 160* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Nurses assess the patient8s capacity and ability to give voluntary consent. #hisincludes assessment o! !actors that may inter!ere ith in!ormed consent* such as hearing loss*
language di!!erences* cognitive impairment* and the e!!ects o! medication. #he nurse8s best
action is to in!orm the geneticist that the couple cannot give in!ormed consent until a translator is
available. #he other ansers are incorrect because (ust having the couple sign the !orm or
e4plaining it in nglish and then having them sign the !orm does not allo you to 3no that the
husband understands hat he is signing. #he i!e cannot translate !or her husband because you
do not 3no it she is translating the document correctly.
+7. A patient comes to the clinic !or genetic testing. #he nurse as3s them to sign consent !orms
to obtain their medical records. #he patient ants to 3no hy the geneticist needs their oldmedical records. $hat is the nurses8 best response%
A& =$e alays get old medical records (ust in case e need them.>
'& =Hou don8t have anything to hide* do you%>
C& =Hour medical in!ormation is needed so that e have all the appropriate in!ormation andcounseling are provided to you.>
)& =$e need your medical records in case you !orget to tell us something.>
Ans: CChapter: 9
Client Needs: CCognitive -evel: Application
)i!!iculty: Moderate
ntegrated Process: Communication and )ocumentation/b(ective: 1
Page and eader: 160* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: Nurses obtain patient consent to obtain medical records that may be needed. Nursese4plain that the medical in!ormation is needed to ensure that appropriate in!ormation and
counseling including ris3 interpretation& are provided. #he other ansers are incorrect because
old medical records are not obtained =(ust in case>D and anser ' is an inappropriate response.
+. $hat does the genetic analysis alays include%
A& nterventions !or other potentially inherited conditions
'& valuation o! other potentially inherited conditionsC& Planning !or other potentially inherited conditions
)& Assessment !or any other potentially inherited condition
Page and eader: 160* Applications o! Genetics and Genomics in Nursing Practice
2eedbac3: #he genetic analysis alays includes assessment !or any other potentially inheritedconditions !or hich testing* prevention* and treatment may be possible. nterventions are not
carried out !or potential genetic conditions. valuation and planning cannot be accomplished i!
the patient does not have the disease.
+E. A!ter genetic testing and counseling* hat can nurses do !or the patient%
A& Clari!y values and goals
'& Noti!y insurance companies o! test resultsC& elp the patient ma3e a list o! co;or3ers so they can be in!ormed
)& #ry to tal3 the patient into changing her decisions
Ans: AChapter: 9
Client Needs: A;1Cognitive -evel: Application
)i!!iculty: Moderate
ntegrated Process: Caring/b(ective: 6
Page and eader: 161* thical ssues
2eedbac3: Nurses can help patients clari!y values and goals* assess understanding o!in!ormation* protect patients8 rights* and support their decisions. Noti!ying insurance companies
and co;or3ers and trying to tal3 the patient into changing any decisions she ma3es are unethical
