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GENETIC TESTING, GENETIC COUNSELING AND PRACTICAL


APPLICATIONS OF GENETICS IN NURSING
INTRODUCTION
Since the beginning of the 1990s, society has seen an explosion in genetic
technology, requests for genetic health care service have expanded. Genetic
information is no used for screening and diagnostic ,laboratory and therapeutic
services, patient and public education programmes and health care infrastructure. !his
demand cannot be met by current members of certified genetic specialist , medical
geneticists , counselor nor most practicing physicians are adequately prepared to
delivery genetic information or to actually interpret results from genetic rests. !his
mean genetic information, technology , testing are used in the delivery of health care
service. !his involve shifting nurses practices and affects their practices that nurses
deliver genetic service in collaboration ith medical geneticists , genetic counselors,
physicians and providers from other services.
GENETIC TESTING "
#efinition " Genetic testing identifies changes in chromosomes , genes $ #%& or
protein. 'n a broader sense includes biochemistry tests for the possible presence of
genetic disease or mutant forms of genes associated ith increased ris( of developing
genetic disorder.
)'t is the analysis of human #%&, *%& chromosomes , protein and certain
metabolites in order to detect heritable disease related genotypes, mutations,
phenotypes or (aryotypes for clinical purposes+.
PURPOSE"
- !he diagnosis of genetic disease in neborns, children and adults.
- !he identifications of future health ris(s, the prediction of drug response.
- !o confirm the diagnosis in patients ith symptoms
- !o advise other family members of the diagnosed patient hether they also
have the disease, be a carrier or are neither.
- !o test the other partner in order to advise hether the child ill have the
disease, here one partner is a sufferer or a carrier
- 'n the population , screening is carried , to test or to discover undiagnosed
sufferers or those ith genetic mar(er for the disease to disorder carriers and to
aids research into the prevalence and severity of the disease and the carrier
ratio.
GENETIC TESTING / SCREENING CURRENTLY AVAILABLE ",
- Sex, abnormal chromosomal member , early onset conditions - e.g. sic(le cell,
cystic fibrosis. ,late onset conditions - e.g. /untington disease, polycystic
(idney disease. susceptibility -e.g. alcoholism. carriers of recessive genes
- sic(le cell, cystic fibrosis. .
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TYPES OF GENETIC TESTING:
'. 1*2%&!&3 !2S!'%G"
't is performed to detect any genetic abnormality in the foetus - genes or
chromosomes.. !his type of testing is suggested to couples ho are (non carriers or
have a previous baby ith a genetic chromosomal disorder. !he genetic test
information can be used prenatally to ma(e decisions at prenatal therapies, pregnancy
termination , and plans for immediate treatment at the time of birth.
*ecommendation"
1. &ll individuals $ omen ho are considering pregnancy should have a
screening history in the preconception visit. 1roviders should as( about ris( to
pregnancies that are based on maternal age, maternal and paternal medical
conditions, obstetrics history, and family history. 'deally a three generation
family medical history should be obtained for both numbers of the couples to
identifying (non genetic disorders, congenital malformations, developmental
delay $ mental retardation and ethnicity. 'f this screening history indicates the
possibility of a genetic disease, specific counseling should be given that may
include referral to a genetic counselor or clinical geneticists geneticist e.g.
history of chromosomal disorder, deafness, clotting disorder , early infant death
, neural tube defect , thalassemia etc.
0. 4ouples ith ethnicity based genetic ris( factors 5 ancestry influences the
probability of being a carrier of many disorders that affect pregnancy. !ypically
carrier themselves ill not sho any sign of genetic disorder, and there is often
no (nos family history of the condition. 'ndividual of mixed ancestry or
ethnicity should consider carrier testing that is recommended for any
component ethnicity. & formal referral could be considered if practitioners are
unsure hich disorder should be tested e.g. negative carrier testing for cystic
fibrosis in an &sh(ena6i 7eish couple ould result in a different chance of
having an affected child than negative testing in an &frican &merican couple.
So appropriate test and interpreting the results can be given to couples ho are
at ris( for any ethnicity based condition, should be offered preconceptions
counseling about the ris( of that condition to future pregnancies. Screening or $
and testing should be offered based on the couples preference e.g. &sians
recommended testing for thalassaemia
8. 4ouples ith genetic ris( factors " that are based on specific family history 5 if
at least $ member of a couple has a family history of developmental delay,
congenital anomalies, or other (non or suspected genetic conditions , the
couple should be referred for appropriate counseling and potential testing. 'f a
disorder in the individuals family has been identified as having a genetic cause
it may be possible to test an individual to determine hether the couple is at
ris( for having an affected child. 2.g. family history of (non genetic
condition such as cystic fibrosis. *ecommended for individuals ho are
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identified as having a family history of developmental delay, congenital
anomalies or other genetic disorder should be referred to an appropriate
specialist to better quantify the ris( to a potential pregnancy.
9. 4ouples ith genetic ris(s factors that are based on previous pregnancy loss
-classically defined as : 0 spontaneous abortions. should prompt testing of
both parents for genetic conditions loss such as chromosomal anomalies and
hereditary thrombophilia. !esting can be performed by a test of peripheral
blood for chromosome analysis - (aryotyping.. 'f a chromosomal anomaly such
as a balanced translocation is found, providers should discuss the use of in vitro
fertili6ation ith preimplantation genetic diagnosis to increase the chance of
an unaffected pregnancy of least one member of a couple is found to have a
chromosomal anomaly, in vitro fertili6ation ith pre,implantation genetic
diagnosis should be discussed.
;. 'ndividuals ith ris( factors caused by (non genetic conditions. 'ndividuals
ith (non genetic conditions should be counseled regarding optimal control
of their condition and the chances of having affected offspring e.g. omen ith
sic(le cell disease have an increased ris( of preterm labour and premature
rupture of membrane.
4ategories of prenatal tests"
'. 'nvasive prenatal tests hich require the penetration of any embryonic
structure and may involve some ris(s e.g. amniocentesis, chorionic villus
sampling, cardiocentesis or percutaneous umbilical blood sampling.
''. %on invasive prenatal tests" <hich do not require the penetration of any
embryonic structure e.g. ultrasonography and -&=1. maternal serum alpha
fetoprotein - >S, &=1. and triple screens, fetal echocardiograms,
computeri6ed tomography and >* imaging.
''. %2<?@*% $ 12#'&!*'4 S4*22%'%G " 'n some countries li(e AS&, there is a
routine screening $ testing of infants for certain genetic disorder such as
phenyl(etonuria, congenital hypothyroidism , sic(le cell anemia , galactosemia etc
such genetic disorders can be treated early in life.
&pproach to genetic testing in children" !he guidelines as endorsed by 'nternational
Society @f %urses 'n Genetics. 4urrently genetic testing of minors falls into several
category as follos "
4ategory ' " testing for a disorder for hich there is immediate (non benefit of
treatment or preventive measures. !esting for the benefits of other family members.
4ategory ''" !esting for the benefit of future reproductive choice ithout immediate
health benefit.
4ategory ''' B 'C" testing in the absence of medical benefits .
#ecision about hether to provide genetic testing a child can be based on these
categories.
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2xamples of genetic conditions for hich testing is available
1. &ffected child " immediate treatment $ prevention $ surveillance
1henyl(etonuria - 1DA.
>ultiple endocrine neoplasia - >2%.
E,lin(ed severe combined immune deficiency - ES4'#.
/yperlipidemias
=amilial adenomatous polyposis - =&1 .
0. &symptomatic carrier " testing to define reproductive ris(
- Sex lin(ed disorder
- /emophilia
- >uscular dystrophy
- ES4'#
&utosomal recessive disorder
4ystic fibrosis
Sic(le cell disease
8. /ealth young person 5 predisposition to develop diseases
?reast cancer - ?*4& ' , ?*4&0.
/ereditary %onpolyposis colon cancer - /%144.
9. /ealthy young person " ill develop disease
/untingtons disease
Some forms of 1ar(insons disease
'''. #'&G%@S!'4 !2S!'%G " hen a particular genetic condition is
suspected based are certain symptoms, diagnostic testing is used to
diagnose a specific genetic or chromosomal condition. 't can be performed
at any times during persons life and help in the management of the disease.
'C. 4&**'2* #2!24!'@% S4*22%'%G " !his type of screening is used
to detect the hetero6ygous carriers of recessive disorders in case of a (non
family, history and in certain ethnic group ith an increased ris( of the
specific genetic condition. 't provides inflammation at the genetic
condition.

C. 1*2#'4!'C2 &%# 1*2SF>1!@>&!'4 !2S!'%G " predicting
testing come identify mutations associated ith a disorder that ill develop
later in life e.g. ?*4& ' has a G;H cumulative ris( of breast cancer.
1resymptomatic testing helps to identify a person ho ill develop a
genetic disorder such as homo chromatosis. 2arly detection can help to
ta(e preventive measures and ma(ing decisions about medical care.
C'. =@*2%S'4 !2S!'%G " =orensic testing uses #%& finger printing
technique to identify criminals or catastrophe victims or establish biological
relationship of a disputed parentage.
C''. *2S2&*4/ !2S!'%G " the goals of research testing include finding
un(non genes,learning ho genes or(s and advancing our understanding
of genetic conditions. !he result of this type of testing are usually not
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available to patients or their health cares providers. !hey are solely meant
for research.
INTERPRETING RESULTS OF A GENETIC TEST
!he result of a genetic test is not easy to interpret and explain ithout
(noledge of proper genetic bac(ground. !herefore patients and their
families must as( questions about the potential meaning of genetic test
results both before and after the test are performed. Genetic or medical
experts consider a persons medical history, family history and the type of
genetic test hen interpreting its results.
& 1ositive !est *esults " depending upon the purpose of the test, may
confirm a diagnosis or suggest a need for further testing. & positive test
result may also have implication for certain blood relatives of the person
undergoing testing and may also requires their screening for some genetic
condition.
& %egative *esults " can indicates that a person is not affected by a
particular disorder, is not a carrier of the abnormal gene, does not have the
increased ris( of developing the disease. !here is possibility of a false
positive result. =urther testing may be required to confirm a negative result.
'n some cases, a negative result might not give any useful information. 't is
termed as uninformative, indeterminate, ambiguous or inclusive. Some
cases, testing others affected and unaffected family members can help
clarify this types of results.
BENEFIT OF GENETIC TESTING "
!est results can provide a sense of relief from uncertainty and help people
ma(e decisions about managing their health care e.g. negative result can
eliminate the need for unnecessary chec(ups and screening tests in some
cases. & positive result can help people to ta(e preventive measures,
monitoring and treatment options. 1renatal test at early stage help couples
to decide, hether to continue or terminate the pregnancy. Some test results
can help couples to ma(e decision about having disorder. %eonatal
screening can identify genetic disorders so that early treatment can be
started to prevent the harmful irreversible effect. 2arly detection of cancer
genes enables the carrier to ta(e necessary preventive measures and regular
chec( ups.
RISK AND LIMITATION OF GENETIC TESTING "
1. !he physical ris(s are usually not associated ith most of the genetic
tests as they require only a blood sample a buccal smear -sample cell
from the inside surface of the chec( ith the help of a small brush a
cotton sab.. /oever the procedure for prenatal testing carrying a
small but real ris( of losing the pregnancy as they requires a sample of
amniotic fluid or tissue from around the fetus.
0. >any of the ris(s associated ith genetic testing involve the emotional,
social or financial consequence of the test results. !he test results may
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ma(e one feel angry, depressed, anxious or guilty. 1ositive test results in
some cases ithin a family as other related family members may have
that genetic condition. !here is possibility of genetic discrimination in
employment or insurance.
8. Some genetic tests provide limited information about one inherited
condition. !he test may not provide information about the development
of the disorder, the severity of the symptoms or its progression over
time.
9. &nother maIor limitation is the lac( of treatment strategies for many
genetic disorders once they are diagnosed.
!he details of benefits, ris( and limitations of a particular test must be understood and
explained to the client so that he may eigh these factors before ma(ing a decision.
GENETIC COUNSELING:
Genetic counseling is a process of communication, intended to aid individuals and
families in interpreting and dealing ith information about a genetic disorder that has
been diagnosed or is suspected ithin the family. Genetic counseling involves a
specially trained healthcare professional ho identifies families at ris(, investigates
the problem present in the family, interprets information about the disorder, analy6e
inheritance patterns and ris( of recurrence and revies available options ith the
family. 'n most genetic clinic , it is performed by a team of health professional
including the physician, medical geneticist and specially trained, masters level
genetic counselors certified by the &merican ?ased @f Genetic counselors.
#efinitions "
&s adopted by the &merican society of /uman genetics in 19J;, )Genetic counseling
is a communication process that deals ith the human problems associated ith the
occurrence or the ris( of occurrence of a genetic disorder in a family. !his process
involves an attempt by one or more appropriately trained persons to help the
individuals a family to "
a. 4omprehend the medical facts, including the diagnosis, probable cause of the
disorder and the available management.
b. &ppreciate the ay heredity contributes to the disorder, and the ris( of
recurrence in specified relatives.
c. Anderstood the alternatives for dealing ith the ris( of recurrence
d. 4hoose the cause of action that seems to them appropriate in vie of their
ris(s, their family goals , and their ethical and religious standards and to act in
accordance ith that decision
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e. !o ma(e the best possible adIustment to the disorder in an affected family
member and $ or to the ris( of recurrence of that disorder.
G2%2!'4 4@A%S23@*S " are currently one of the primary groups of health care
professional ho provide genetic counseling services to patients. !hey are specially
trained to ta(e into account a patient education and experiences, to communicate
complicated medical concepts on an appropriate level, to consider the individuals
social , religious and cultural bac(ground hen presenting testing and management
and to encourage patients to verbali6ed their feelings about the condition and the
available options. !hey are also trained to provide anticipatory guidance in hich the
counselor help the patient consider several scenarios and discuss ho the patients
ould respond and ho and hen to share the information ith the family members.
'n addition to providing education and support, genetic counselors may serve as co,
coordinators of care and patient advocates and may refer individuals and families to
community or state service if needed.
'ndications =or Genetic 4ounseling "
- Dno or suspected hereditary disease in a patient a family
- ?irth defects in previous children
- >ental retardation - unexplained$ multiple malformation in a child..
- &dvanced maternal age -older than 8; years.
- =amily history of early onset cancer
- *ecurrent pregnancy loss
- !eratogen exposure during pregnancy
- 'dentification of malformation -s. by ultrasonography
- 4onsanguinity
,!endency to develop a neurological condition such as /untingtons disease.
'%=@*>&!'@% 4@%C2F2# '% G2%2!'4 4@A%S23'%G "
1. !he magnitude of the ris( of occurrence or recurrence
0. !he impact of disease as the patient and the family
8. >odification of disease impact and or ris(
9. Genetic Services,
;. &nticipated =uture #evelopment
!he process of genetic counseling$steps
#iagnosis , 'n some cases, the goal of a genetic evaluation is to ma(e a diagnosis of a
particular genetic condition B syndrome. this is commonly the case here a child is
born ith multiple birth defects or problems ith groth and development. 'n other
cases the diagnosis is already (no and the genetic counselor or geneticist probably
ill need to have documentation -laboratory test results, doctor notes. that state the
diagnosis, having documentation assures that the information receive is accurate.
1rognosis, @nce the diagnosis is made, next step is for the family to understand hat
the diagnosis mean on a practical level. !he genetic counselor ill explain ho this
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condition has affected other people ith the same diagnosis. !hen use this
information to help prodict hat (ind of symptoms or problems a family number may
face in future.
!reatment 5 *ecent medical advances have created effective treatment for many
genetic diseases. Some condition has excellent treatment, other have experimental or
controversial and some for hich no treatment exist. 'n some cases li(e inherited
cases, the genetic counselor ill recommended processing$testing for certain types of
carriers if a person has that condition. &t the end of a genetic evaluation one should
have a clear understanding of the available treatment for genetic condition affecting
family.
'nheritance B *ecurrent *is(s" Genetic condition affect families in different ays. &
person ho has a relative ith genetic condition may onder about the chances of
developing this condition themselves or having a child ith this condition and the
chance of passing this to their children. !he counselor ill be able to anser these
question about family history and ho the condition affect the family.
Genetic testing" more genetic testing are available them before. !he genetic condition
ill let you (no hether testing is available for the condition that is affecting the
family and to anser the question about the tests. ?ecause genetic testing is optional,
it is important for the questions$doubts to be ansered first before ma(ing a decision
about having a test. 'f the test is decided, the genetic services provide ill revie the
result and hen it is available.
ETHICAL IMPLICATIONS OF GENETIC COUNSELING AND TESTING
Genetic testing can include presymptomatic testing, prenatal testing or carrier testing.
!he implementation of genetic testing raise many ethical, legal and social issues .!he
basics principles are as follo"
1. *espect for autonomy of the individual is the first principle -self,
determination, self rule. arises from the assertion that individuals are of
capable of reasoning deciding, illing and acting and thus have right to
control their our destiny. !his principles requires that a physician
approaching a patient about a particular intervention has the responsibilities
to provide sufficient information to allo the individual to ma(e an
independent, and voluntary Iudgment about hether he and she ishes to
proceed. 'n medical genetics setting, it com be involves 8 step -a. pretest
education and in hich the benefits and ris(s are explained -b. 4arrying
out the test itself, if the patient ishes to proceed -c. post test counseling
about the outcome of the testing.
0. 'nformed 4onsent" !he %ational Society @f Genetic 4ounselors -%S&4.
has issued officially a statement that it is the cares providers responsibility
to provide effective communication of all available options and to obtain
informed consents for procedures involving ris( to the individual or foetus.
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8. ?eneficence and %onmaleficence" ?eneficence is the mandate to maximi6e
the benefits of hatever intervention is considered. %onmalficience is the
duty to first do no harm+ i.e to minimi6e the ris(s.
9. 1rivacy and confidentially" <ithout confidentially and privacy, trust
beteen a health come provider and a patient is at ris(.
;. Genetic #iscrimination" !he responsibility of the genetic counselor is to
ma(e the patient aare of the potential for insurance and employment
discrimination based on a positive genetic test result. !he patient then must
eight the ris( against the potential benefit of genetic testing. !his genetic
discrimination means Iustice and equity. !his principle refers to ho an
individual is treated in the content of the rest of society. &re benefit
distributed fairlyL ?urden are shared
Role Of A Nure I! Ge!e"#$ E%&lu&"#o! A!' Cou!el#!( Of F&)#l#e:
'n collaboration ith the health care team, the nurse consider refering for
genetic counseling any patient includes",
&ssessment "
1. =amily history
0. 1reparing family pedigree
8. &dditional areas include environmental factors, lifestyle factors, nutrition,
psychological factors, family system.
%ursing diagnosis
!he person ill 5
- 'dentify relevant information to genetics conditions B testing.
- 'dentify the alternatives of testing and not testing as a choice
- 'dentify the consequences of having the genetic information and not having it
- 'dentify here and ho to obtain speciali6ed support
- *ecogni6e potential family resistance in pursuing genetic testing
- &c(noledge the impact of genetic information on the family members and in
ones health record
- <eigh alternatives of genetic testing and choose hether to pursue
%ursing interventions
1. &ctive listening 5 attend closely to true verbal and nonverbal message
conveyed by the patient.
0. Genetic ris( identification , provide for privacy and confidentiality during
assessment and conferences, revie specific diagnostic procedure
8. #ecision ma(ing support 5 provide information about alternatives, assist
patient in identifying advantages and disadvantages of option, facilitates
discussion ith other family members.
9. 2motional support , provide reassurance, acceptance and encouragement
during the decision ma(ing process. ?e non Iudgmental and convey company.
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;. *eferral 5 arrange for services of a genetic counselor if desired, contact
provider.
G. #ocumentation , record details of conference and include relevant patient
quotes, prepare referral forms.
J. %ursing diagnosis 5 anxiety related to disease process or diagnostic
intervention.
K. 2xpected outcome, patient ill experience reduced anxiety.
9. 1roviding follo up after genetic evaluation.
NURSING ACTIVITIES
%urses refer clients, collaborate ith genetic specialists and participate in
genetic counseling, hen they carry out the folloing activities",
- @btain family, prenatal and health history.
- &ssess the genetic condition of the family.
- /elp in familys understanding of the genetic condition
- *efer for genetic evaluation and counseling hen indicated
- 2stablish a plan of care ith the family and co,ordinate care ith other health
professionals.
- Anderstand the benefits and ris(s of genetic testing, educate families about
available testing
- >aintain privacy and confidentially of family records and information.
- 1rovide information to family about an access to early child stimulation
programs, genetic resources and supports groups.
- 1rovide follo , up care and support through out the life span of the child.
- /elped gather relevant family and medical history information.
- @ffer support to patient and families through out the genetic counseling
process.
- 4o,ordinate genetic related health care ith relevant community and national
support resources.
PRACTICAL APPLICATIONS OF GENETICS IN NURSING
Scope"%early all the disease are no recogni6e to have a genetic components, all
areas of nursing practices have been influence by recent advance in genetic (noledge
and technology.
- %urses no provide education to patient about hereditary ris( for developing
disease. 4ounsel about the benefits and ris(s associated ith genetic testing
and manage disease ris( based on genetic information.
- !he recent development of commercial testing for susceptibility genes -e.g.
1redisposition genes for breast. has had a great impact on nursing role in the
identification and management of individuals at ris( for developing many
diseases.
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- !hese developments have let to tremendous changes in genetic nursing
practices. &s a result of this, the scope of genetic (noledge application in
nursing is limitless. &ccording to =oman. )%ursing can ignore genetics no
longerM the time for meaning full action is no.
HISTORICAL MILESTONES IN GENETICS NURSING PRACTICE
%urses have been involved in managing genetic information since the 19G0s hen
they provide services to children ith genetic disorders and their families.
- 19G0s nursing publishing about the nursing role in genetic and conducting
genetic research.
- 19K9s the genetic nursing netor( as formed hich latter became 'S@%G.
- 19KKs international society of nurses in genetics -'S@%G. as formed, hich
promoted genetic nursing practice and develop credentialing process of genetic
nurses.
- 199J genetics nursing as designated as an official nursing specialty by
&merican %urses &ssociation -&%&..
- 199K statement on the scope and standards of genetics clinical nursing practice
as publish by 'S@%G and &%&.
- 0001 'S@%G approved information of the genetic nursing credentialing
commission -G%44..
- 0000 G%44 goes online at .geneticnurse.com, develop a logo and
becomes incorporated.
NURSES ROLES IN GENETICS
- 1lanning, implementing, administering, managing and evaluating screening and
testing programs.
- >onitoring and evaluating clients ith genetic disorders in a similar manner to
other disorders.
- <or(ing ith families under stress caused by problems related to a genetic
condition.
- 4o,ordaining care and services for individuals or families affected by genetic
conditions.
- >anaging home care and therapy for person ith genetic disease.
- =olloing up on positive neborn screening tests.
- 'ntervieing client ith possible genetically conditions.
- &ssessing needs and interactions in clients and families affected by genetic
disease.
- !a(ing comprehensive and relevant families histories
- &ssessing clients B families cultural ethnic health beliefs and practices as they
relate to the genetic problem.
- &ssessing client and familys strengths and ea(nesses and family functioning.
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- 1roviding health teaching and education related to genetics.
- Serving as an advocate for client and family.
- 1articipating in public education about genetic.
- #eveloping a individuali6e plan of care including anticipatory guidance for a
person ith a genetic conditions.
- 2xplaining the purpose meaning and implication of genetic test and results.
- *einforcing and interpreting genetic counseling and genetic testing
information.
- Supporting families in counseling and decisions ma(ing
- *eference action
IMPORTANCE OF GENETICS IN NURSING EDUCATION
Genetics concepts must be in all courses in the nursing program. !hese should
include both the teaching and clinical applications. !hey must include practical and
relevant clinical the (noledge of the various genetic principles hich ill help the
nursing graduate in the folloing ays.
- ?asic mechanism of inheritance and transmission of chromosomes and genes
including the concepts of variations and mutation.
- 'nformation about the common inherited genetic disorders e.g. 4ystic fibrosis,
don syndrome.
- 't provides information about the genetic contributions to common and
complex conditions such as breast cancer, contributions to human diversity and
concepts such as discrimination and eugenics.
- Dnoledge of genetics helps in prediction of genetic ris( and interpretation of
general ris(.
- 1roper family history and ho to construct and read family pedigree.
- 'nformation about genetic ris(, genetic testing and screening and the
implication both positive and negative interpretation results.
- &areness of social, legal and ethical issues related to genetics e.g. effects on
individual groups and societies some of hich are unique to genetics
conditions.
- 4ase management of persons ith genetics disorders.
- <ays of access resources relating to genetics for patient and self education and
need to (eep current.
- Dnoledge about referral
FUTURE PROSPECT OF GENETICS IN NURSING
Genetics is going to play an important role in every medical field including in
future because"
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- %urses in all areas of practice ill encounter clients, ith traditional genetic
disorders and can appear at any age, these have a genetic basis to a greater or
lesser extent.
- !he choice and treatment for any ne health problems of a person is influence
by his previous existing genetic condition.
- Some common and complex diseases li(e cancer have a genetic component.
!heir treatment management and prevention approached are based on the
genetic principles.
- 'n addition to commonly used prenatal diagnosis, assessment for genetic ris(
by testing folloing by counseling ill be come prevalent for common disease
li(e cancer, &l6heimer disease.
- !echnology advances have enabled persons ith genetics disorders to live long
e.g. Sic(le cell anaemia and ay of thin(ing about health promotion and
disease prevention ill change ith advanced in the filed of genetics.
- >any diseases ill be diagnose and treated using (noledge of genetics.
- Genetics information that influences health care through the life spam ill be
available prenatally.
- &dvanced practice nurses may play direct roles in genetic counseling and in
advanced assessment.
- >ay or( in a particular specialty e.g. oncology, cardiology and as ell as in
long term management of specific genetic disorders depending on the specialty
area in hich they are trained e.g. sic(le cell clinic.
NURSING ETHICS
!he important nursing ethics regarding the genetic disorders are as follos",
4onfidentiality of genetic information and respect for privacy
'nvolving patient in the planning and implementation of their on health
care.
!he nurse must honour the patients ishes hether to (eep information
from the family hile explaining to the patient the potential benefits, this
information may have to other family members.
%urses can help patient clarify values and goals, assess understanding of
information, protect the patients rights and support their decisions.
&dvocate for patient autonomy in health decisions.
!he emphasis should be on principles of beneficence -to do good. and non,
maleficience -to do no harm. as ell as autonomy, Iustice and fidelity.
%urses acts to safe guard the client and the public hen health care and
safety are affected by the incompetent, unethical or illegal practice of any
person.
ADVANCING GENETIC NURSING KNO*LEDGE
&lthough genetic discoveries affect nursing education, practice and
research, the use of genetic principles in research design and methodologies is a
recent approach in nursing science. %urses must understand genetics in order to
participate in (noledge discovery regarding relationships beteen genetics,
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health and nursing. 'ntegration of genetic concepts into nursing science requires
development of collegial relationships among nursing researchers, as ell as ith
those in genetics and related disciplines. *esearch that targets or incorporates
genetics is an essential component of nursing sciences in the 01
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century. 't is also
critical that the nurses be recogni6ed for their ability to deliver genetic services in
collaboration ith medical geneticists, genetic counselor, physicians and provider
from other disciplines. &ll nurses could enhance the quality of their health care
practices and improves their health care practices and improve patient outcomes by
recogni6ing genetics as essential to a holistic vie of personhood and a modern
vie of health care delivery.
INTERNATIONAL SOCIETY OF NURSES IN GENETICS
!he international society of nurses in genetics -'S@%G. as conceptuali6ed in
19KJ and incorporated in 19KK by K8 charter members, no ith fe more than
0G0 members. 't is dedicated to the scientific, professional and personal
development of nurses in the management of genetic information. @ne of the
primary obIectives of 'S@%G is to develop an infrastructure to ensure that genetic
education is disseminated and this (noledge is increasingly used by nurses in
practice around the orld. 'S@%G represent a group of nurses, including case
manager, administrators, coordinators, educators, genetic counselor, professional
and personal development of nurses in the field of human genetics.
'S@%G incorporate genetics into education hereby members of 'S@%G offer
lectures and presentations to nursing specialty organi6ation on many topics
including
Genetic principles, concepts, trends and issues in genetic nursing, genetic family
history, ris( assessment and referral in nursing , current issues, genetic
information, ethical, social and legal issues in genetics.
4ertification and credentialing for nurses ho speciali6ed in genetics.
4urrently nurse are among the applicants in master level, genetic counseling
program in A.S.&.and A.D, hoever they ant this (noledge to be available as
on advanced practice speciali6ation in master level nursing education. 'n 4anada,
A.D, certification to practice genetic counseling is being pursued Iointly by nurses
and genetic counselor. 'S@%G has been examining since 1991, the feasibility of
certification in genetics especially for nurses. 't has established a credentialing
committee to identify necessary qualification and to map the process ho this
credentialing has been conducted.
'S@%G also initiates nursing in reaching out to other disciplines in an effort
provide and equipped ith (noledge in an effort to launch and sustain a national
agenda for genetic nursing education because nurses must be recogni6ed by and
integrated into the genetic community so that they can be prepared and supported
by patient ho are already leading this ne paradigm shift in health care.
CONCLUSION" Since the beginning of the 1990s the society has seen an
explosion in genetic technology. Genetic testing and counseling are both needed so
as to detect the genetic disorders right from the prenatal period up to adulthood as
19
1;
in suspected predisposition of (non family history of cancer, then genetic
counseling hich is a process of communication to provide the patient and
families ith information. !hen the importance of genetic in nursing education so
as to meet the demands for genetic health care services hich have been
expanded , the nurse needs to prepare and equipped ith (noledge about genetics
so as to meet this challenge.
REFERENCES:
1. *handaa.S.S.Genetic &nd 'ts *oles 'n %ursing. & !extboo( @f
Genetics.0009.S.Ci(as B 4oM1"8,9, 19"09J,800, 08"809,88;
0. Dumar. Suresh. Services related to genetics. /uman genetics in
nursing.000J.7aypee ?rother ;"10G,109, &ppendix 1"1;9,1;J
8. SelvaraI.1.Some =&Ns on oral contraceptives and genetic counseling.
%ightingale %ursing !imes.Col 8-10. >arch 000K
1;
1G
9. ?enIamin.#.S, ?rian <.7ac(. !he clinical content of preconception care.
Genetics and genomics. &merican 7ournal of @bstetrics and Gynaecology. Col
199 -G?. #ecember 000K
;. <illiam .D.7anet. *eimer.!ripp.!oni.&dvancing genetic %ursing (noledge.
%ursing @utloo(. 0009 ";0"J8,J9
G. &nderson Gen,>onsen ?lac( *ita.1reparing the nursing profession for
participation in a genetic paradigm in health care. %ursing @utloo( 0000M
9K"08,0J
J. 7ohnson.&.Daren,?rensinger.#.7ill, Genetic counseling and !esting.%ursing
clinics of north &merica.Col 8;-8. September 0000
K. 3ashley.*.=elinsa, Genetics in nursing education. %ursing clinics of north
&merica.Col 8;-8. September 0000
9. <ebsite.http"$$.ndsu.noda(.edu$instruct$mcclean$plsc981$student99$(arthi
(eyan.htm.
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1 'ntroduction 1
0 Genetic !esting " 1urpose 1
!ypes of genetic testing 0
'nterpreting *esults of genetic testing ;
?enefits of genetic testing ;
*is(s and limitations ;
8 Genetic counseling G
#efinition G
'ndications for genetic counseling J
'nformation conveyed through genetic counseling J
1rocess of genetic counseling K
2thical implication K
*ole of a nurse in genetic evaluation and counseling of
families
9
9 1ractical implication of genetic in nursing 10
Scope 10
/istorical milestone in genetic nursing practice 11
%urses roles 11
'mportance of genetic in nursing 10
=uture prospects of genetic in nursing 18
%ursing ethics 18
&dvancing genetic nursing (noledge 19
'S@%G 19
4onclusion 1;
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