CPMS COLLEGE OF NURSING

SEMINAR
ON
LEGAL AND ETHICAL ASPECTS OF
GENETIC SCREENING AND
COUNSELLING & ROLE OF A NURSE IN
GENETIC COUNSELLING.

SUBJECT : CHILD HEALTH NURSING

DATE : 31th December 2020.

SUBMITTED TO SUBMITTED BY

MADAM ARCHANA DAS FALGUNI SHIL

ASSOCIATE PROFESSOR OF M.SC (N) 1ST YEAR

DEPT. OF CHILD HEALTH NURSING ROLL NO: 17

CPMSCON CPMS CON

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 CONTENT :

Serial content Page no

no
1.  INTRODUCTION TO GENETICS & 4
HISTORICAL BACKROUND OF 4-5
2. GENETICS

 INTRODUCTION TO GENETIC 6
3. SCREENING & COUNSELING

GENETIC SCREENING
 Definition 7
 Purposes 7
 Types 7-12
i) Diagnostic testing
4. ii) Common screening
LEGAL AND ETHICAL ASPECT OF GENETIC 13-18
SCREENING
 Autonomy
 Confidentiality
 Privacy
5.  Equity
GENETIC COUNSELLING
 Introduction 19
 Definition 19
 Reason for seeking counseling 19-20
 Purposes 20
 Types 20
 Counseling team 20-21
 Steps of counseling 21-22

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6.  Prerequisites of counseling 23

LEGAL AND ETHICAL ASPECT OF GENETIC 24-25

7. COUNSELING

8. ROLE OF A NURSE IN GENETIC COUNSELING 26-31

9. RESEARCH JOURNALS 32

10. CONCLUSION 33

11. BIBLIOGRAPHY 34

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 LEGAL AND ETHICAL ASPECTS OF GENETIC SCREENING AND
COUNSELING & ROLE OF A NURSE IN GENETIC COUNSELING.

INTRODUCTION TO GENETICS :

GENETICS: The term genetics was introduced by Bateson in 1906. It has been derived from
Greek word ‘gene’ meaning ‘to become’ or “to grow”. It is the branch of science which studies
genes and the pattern of inheritance of particular diseases.

INHERITENCE : The passing of familial elements from one generation to the next.

GENE : Basic unit of genetic information & subunit of DNA.

GENOME: The collection of genetic information’s.

Human development is a complicated process that depends on the systematic unraveling of

instructions found in the genetic material of the egg and sperm development from conception to
birth of a normal healthy baby occurs without incidence in most cases, occasionally however
some anomaly in the genetic code of the embryo creates a birth defect or disorder. Parents are
then left to wonder what went wrong, which parent might be responsible or most significantly
what are the chances of the problem recurring with the next pregnancy. The science of genetics
seeks to explain the underlying cause of congenital disorders and the patterns in which inherited
disorders are passes from generation to generation.

Historical Background:

Ancient theories of pangenesis and blood in heredity

Although scientific evidence for patterns of genetic inheritance did not appear until Mendel’s
work, history shows that humankind must have been interested in heredity long before the dawn
of civilization. Curiosity must first have been based on human family resemblances, such as

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similarity in body structure, voice, gait, and gestures. Such notions were instrumental in the
establishment of family and royal dynasties. Early nomadic tribes were interested in the qualities
of the animals that they herded and domesticated and, undoubtedly, bred selectively. The first
human settlements that practiced farming appear to have selected crop plants with favourable
qualities. Ancient tomb paintings show racehorse breeding pedigrees containing clear depictions
of the inheritance of several distinct physical traits in the horses. Despite this interest, the first
recorded speculations on heredity did not exist until the time of the ancient Greeks; some aspects
of their ideas are still considered relevant today.

Hippocrates ( 460– 375 BCE), known as the father of medicine, believed in the inheritance of

acquired characteristics, and, to account for this, he devised the hypothesis known as pangenesis.
He postulated that all organs of the body of a parent gave off invisible “seeds,” which were like
miniaturized building components and were transmitted during sexual intercourse, reassembling
themselves in the mother’s womb to form a baby.

Aristotle (384–322 BCE) emphasized the importance of blood in heredity. He thought that the

blood supplied generative material for building all parts of the adult body, and he reasoned that
blood was the basis for passing on this generative power to the next generation. In fact, he
believed that the male’s semen was purified blood and that a woman’s menstrual blood was her
equivalent of semen. These male and female contributions united in the womb to produce a baby.
The blood contained some type of hereditary essences, but he believed that the baby would
develop under the influence of these essences, rather than being built from the essences
themselves.

Aristotle’s ideas about the role of blood in procreation were probably the origin of the still
prevalent notion that somehow the blood is involved in heredity. Today people still speak of
certain traits as being “in the blood” and of “blood lines” and “blood ties.” The Greek model of
inheritance, in which a teeming multitude of substances was invoked, differed from that of the
Mendelian model. Mendel’s idea was that distinct differences between individuals are
determined by differences in single yet powerful hereditary factors. These single hereditary
factors were identified as genes. Copies of genes are transmitted through sperm and egg and

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guide the development of the offspring. Genes are also responsible for reproducing the distinct
features of both parents that are visible in their children.

INTRODUCTION TO GENETIC SCREENING AND

COUNSELLING :
Genetic testing/ screening is also known as DNA testing, is used to identify changes in DNA
sequence or chromosome structure. Genetic testing or screening also includes measuring the
result of genetic changes such as RNA analysis as an output of gene expression or to measure
specific protein output. But in medical set up this can be used to rule out genetic disorders,
predict risks for specific conditions. And genetic counseling is the process by which clients are
advised about genetic disorders. Genetic disorders by definition can be passed on in heredity.
Example : Many descendents of queen Victoria carried one or both alleles for hemophilia. It was
a hereditary disease in European royal families.

Clients with a disorder may be interested in the probability of developing or transmitting a

genetic disorder to their children. They might ask what are the options to prevent, avoid and
improve it.

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GENETIC SCREENING:
DEFINITION :

 Genetic screening is defined as the search in a population for persons possessing certain
genotypes that
1. Are already associated with disease or predisposition to disease
2. May lead to disease in their descendents
 Genetic testing is defined as “ examining a sample of blood or other body fluids or tissue
for bio-chemical chromosomal or genetic markers that indicate the presence or absence of
genetic disease,”
 It is also defined as type of medical test, identifies changes in chromosomes, genes or
proteins.

PURPOSES :

 conformational diagnosis of a symptomatic individual

 forensic or identity testing
 pre symptomatic testing for predicting adult onset disorders such as Huntington’s chorea.
 It allows the genetic disorder of vulnerabilities to inherited diseases.
 It can be used to determine a child potentiality or person ancestry.

TYPES : Genetic testing can provide information about a person’s genes and chromosomes.
It is broadly divided into 2 categories.

1. DIAGNOSTIC TESTING
2. SCREENING

1.DIAGNOSTIC TESTING :

 DIAGNOSTIC TESTING : This is used to identify or rule out a specific genetic or

chromosomal condition. In many cases genetic testing is used to confirm a diagnosis
when a particular condition is suspected based on physical sign and symptoms. It can be

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 performed before birth or at any time during a person’s life but is not available for all
genes or all genetic conditions. The result can influence a person’s choices about health
care and the management of the disorder.

 NEWBORN TESTING: This is used in life. just after birth to identify genetic disorders
that can be treated early. Millions of babies are tested each year everywhere. All states
currently test infants for phenylketonuria ( a genetic disorder that causes intellectual
disability if left untreated) and congenital hypothyroidism ( a disorder of the thyroid
gland).
 CARRIER TESTING : this is used to identify people who carry one copy of a gene
mutation that, when present in 2 copies, causes a genetic disorder. This testing is offered
to individuals who have a family history of a genetic disorder. If both the parents are
tested, the test can provide information about a couple’s risk of having a child with a
genetic condition.
 PRENATAL TESTING : Prenatal testing used to detect changes in a fetus’s genes or
chromosomes before birth. This type of testing is offered during pregnancy if there is an
increased risk that the baby will have a genetic or chromosomal disorder. This test can
helps the couple to make decisions about a pregnancy.
 PREIMPLANTATION TESTING: it is also called pre implantation genetic diagnosis,
is a specialized technique that can reduce the risk of having a child with a particular
genetic disorder. It is used to detect genetic changes in embryos that were created using
assisted reproductive techniques such as in vitro fertilization. To perform pre
implantation testing small no of cells are taken from the embryos and tested for certain
genetic changes. Only embryos without these changes are implanted in the uterus to
initiate a pregnancy.
 PREDICTIVE AND PRESYMPTOMATIC TESTING : This type of testing are used
to detect gene mutations associated with disorders that appear after birth, often later in
life. This test can be helpful to people who have a family member with a genetic disorder,
but who have no features of the disorder themselve’s at the time of testing. Predictive
testing can identify mutations that increase a person’s risk of developing disorders with a

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 genetic basis, such as certain types of cancer. Pre symptomatic testing can determine
whether a person will develop a genetic disorder, such as hereditary hemochromatosis
( an iron overload disorder), before any sign and symptoms appear. This test can provide
information about person’s risk of developing a specific disorder and help with marking
decisions about medical care.
 FORENSIC TESTING: this test uses DNA sequences to identify an individual for legal
purposes. Unlike the tests described above, forensic testing is not used to detect gene
mutations associated with diseases. This type of testing can identify crime or catastrophe
victims, rule out or implicate a crime suspect, or establish biological relationships
between people ( e.g : parentity).

2.COMMON SCREENING :

ULTRASONOGRAPHY : this is a non invasive procedure that is harmless to both the

fetus and the mother. A transducer is placed in contact with the mothers abdomen and
high frequency sound waves are directed at the fetus. The sound waves are reflected back
through the tissues and recorded and displayed in real time on a screen.
The developing embryo can first be visualized at about 6 weeks gestation. Recognition of
the major internal organs and extremities if any abnormality can be best accomplished
between 16-20 weeks gestation . Although an ultrasound examination can be quite useful
to determine the size and position of the fetus, the size and the position of the placenta,
the amount of amniotic fluid and the appearance of fetal anatomy.
INDICATION : screened for structural malformations
LIMITATIONS: subtle anomalies may not be detected until later in pregnancy or may
not be detected at all. E.g :- down’s syndrome ( trisomy 21)

AMNIOCENTESIS :
This is an invasive procedure in which a needle is passed through the mother’s lower
abdomen into the amniotic cavity inside the uterus .

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 For prenatal diagnosis, most amniocentesis are performed between 14-20 weeks of
gestation. Within the amniotic fluid are fetal cells which can be grown in culture for
chromosomes analysis, biological analysis and molecular analysis.
In the 3rd trimester of pregnancy the amniotic fluid can be analyzed for determination of
fetal lung maturity
INDICATIONS: early in pregnancy amniocentesis is used for diagnosis of
chromosomal and other fetal problems such as-

 Trisomy 21 (down’s syndrome)

 Trisomy 18(Edward’s syndrome) Trisomy 13 (patau syndrome)
 Neural tube defects ( anencephaly and spina by fida ) by alpha fetoprotein levels.
 It predicts fetal lung maturity, which is inversely correlated to the risk of infant RDS.

CHORIONIC VILLAI SAMPLING : In this procedure , a catheter is passed via the vagina
through the cervix and into the developing placenta under ultrasound guidance. Alternative
approaches are transvaginal and transabdominal . The introduction of the catheter allows
sampling of cells from the placental chorionic villi.

The most common test employed on cells obtained by CVS is chromosome analysis to determine
the karyotypes of the fetus. he cells can also be grown in culture for biochemical or molecular
biologic analysis. CVS can be safely performed between 9 to 12 weeks.

INDICATIONS:

 Abnormal first trimester screen results

 Increased nuchal translucency or other abnormal findings
 Parents are known carriers for a genetic disorder
 Advance maternal age (above 35)

TRIPLE/QUADRUPLE SCREEN : A maternal serum laboratory screening test that

measures the level of three substances made by the developing baby and placenta : a –
fetoprotein human chorionic gonadotropin and unconjugated estriol.

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INDICATION: it is a screening test for low risk pregnant women to determine pregnancies at
an increased risk for open neural tube defects, down syndrome and trisomy 18 ( Edward
syndrome).

FETAL NUCHAL TRANSLUCENCY : A nuchal scan is a sonohgraphic parenteral

screening scan to detect cardiovascular abnormalities in a fetus. It helps to identify higher
risks of down syndrome, trisomy 13, trisomy 18, and turner syndromes. The ultrasound
accesses the amount of fluid behind the neck of a fetus .Increased fluids increase the risk of
chromosomal abnormality.

A serum blood test is performed to determine the level of two hormones, PAPP-α and β-HCG
using a combination of the ultrasound and blood test, the risk of having a baby with down
syndrome.

INDICATION: Any pregnant women presenting by 11-14 weeks gestation can be screened.
Particularly for women with increased risk or desired screening for down syndrome, trisomy
13, trisomy 18 or turner syndrome.

PRECUTANEOUS UMBILICAL BLOOD SAMPLING: An ultrasound guided needle is

inserted through the abdominal and uterine wall to the umbilical cord and a sample of blood is
retrived and sent to the laboratory for analysis.

INDICATION: It is usually done when diagnostic information cannot be obtained through

amniocentesis, CVS or ultrasound.

FETOSCOPY : It is an endoscopic procedure that allows direct visualization of the fetus

through the insertion of a tiny flexible instrument called fetoscope. It is inserted through the
abdominal wall and into the uterine cavity. Ultrasound is used to guide the placement of the
scope. It is tested for congenital blood disorders such as hemophilia and sickle cell anemia.
Fetal tissue samples can be collected and tested foe genetic diseases.

INDICATIONS :

It is indicated for any woman at risk of delivering with significant congenital anomalies.

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 MATERNAL BLOOD SAMPLING FOR FETAL CELLS :

This is the technique use of the phenomenon of the fetal blood cells gaining access to maternal
circulation through the placental villi.

Fluorescence in situ hybridization is one technique that can be applied to identify particularly
chromosomes of the fetal cells recovered from maternal blood and diagnose Aneuploid
conditions such as Trisomies and Monosomy X.

MATERNAL SERUM BETA–HCG : This is commonly used as a test for pregnancy.

Beginning at about a week following conception and implantation of the developing embryo
into the uterus, the trophoblast will produce enough detectable beta HCG diagnose pregnancy.

 The beta HCG can also be quantified in serum from maternal blood and this can be
useful early in pregnancy when threatened abortion or ectopic pregnancy.
 Because the amount of beta –HCG will be lower than expected.
 An elevated beta HCG coupled suggests down syndrome.
 Very high levels of HCG suggest trophoblast disease.
 The absence of a fetus or ultrasonography along with an elevated HCG suggests
hydatidiform mole.

FLUORESCENCE SITU HYBRIDISATION : this technique used to visualize when a

particular gene or DNA sequence is located within a person’s genome, this enables clinical
scientist to check foe specific chromosomal alteration which may cause a genetic condition.

MATERNAL SERUM ESTRIOL: The amount of estriol present in the maternal serum is
dependent upon a viable fetus, properly functioning placenta and maternal well-being. The
measurement of serial estriol levels in third trimester will give an indication of general well
being of the fetus.

 If the estriol level drops , the fetus is threatened and delivery may be done emeregently.
 Estriol tends to be lower when down syndrome is present and when there is adrenal
hypoplasia with anencephaly.

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SET UP FOR GENETIC SCREENING

GENETIC SCREENING AT COMMUNITY LEVEL : community based genetic screening

has the potential to detect childs at high risk for common inherited conditions, leading to
improved population health. some researchers are interested giving information regarding
genetic inheritance, so that they can make lifestyle changes to reduce their risk based on their
genetics, specially to the newly married couples and pregnant women in order to prevent the
child from genetic disorders.

HOSPITAL SET UP : Genetic testing usually done to screen for or confirm that they have
genes that increase the risk for a certain disease. It can be done for childs, newborn and adult
also. Some parents choose to be tested before or during pregnancy to see whether they carries
certain disease or not, such as hemophilia. If a person belongs to an affected family so health
care provider can help or advice for a test to be confirmed and as well as its treatment also.

GENETIC SCREENING PERIOD : The timing of screening is often used to divide

genetic screening is often used to divide genetic screening programs into 3 main types.

1. Preconception
2. Prenatal screening
3. Newborn screening.

1.preconception screening : it occurs before having children, and generally involves screening
for carriers couples in which both the couple are asymptomatic. Carrier screening programs are
generally limited to specific high risk groups .However the primary health care group can
identify couples planning to start family who have has hereditary history and who would be
interested in referral to genetic counseling services for more detailed informations.

2. prenatal screening : Also known as antenatal screening is carried out during pregnancy and
generally identifies whether an unborn fetus has any risk of having a congenital condition or not.
Such as down syndrome, structural abnormality, neural tube defects etc. the primary health care
team plays an important role informing pregnant couples of the availability of such screening
tests, which are generally time-sensitive.

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3.Newborn screening : Also known as neonatal screening , is usually carried out shortly after a
baby is born and identifies whether the newborn has a risk of developing a disease in childhood
for which prevention and early detection exists. e/.g – phenylketonuria and congenital
hypothyroidism.

GENETIC SCREENING FOR DIFFERENT AGE GROUP :

1. FOR CHILDREN : Genetic screening of children implicates important concern about

the minor patients present and future autonomy and best interests. Decision to test must
balance multiple considerations, including likely benefits , risk of knowing genetic status
and availability of the effective preventive , therapeutic or palliative interventions. With
respect to genetic testing of children being considered for adoption, a physician should
offer a genetic testing when the child at a risk for congenital abnormalities, the physician
should seek the informed consent of the minors parents and engage the minor in decision
making at a developmentally appropriate level, in keeping with ethics guidance.
2. FOR ADULT : An individual may decide to pursue genetic testing as an adult for
several reasons. While the most common reasons for adults to have genetic testing are to
determine their carrier status or disease risk, there are many other reasons like
- A current medical condition may be caused by a previously unrecognized genetic
defect.
- To determine if a healthy individual will develop a disease, such as alzheimer’s
disease, in later life.
- To determine if the genome of an individual has certain alleles that indicate necessary
lifestyle or environmental modifications.

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CHILD SCREENING CENTRES :

CHILD GUIDANCE CLINIC : It was started in Chicago in 1909 to deal with the problems
of juvenile delinquency. The child guidance clinic provides psychotherapy to reduce the
anxiety and bring the self confidence in child. These CGC are having a good range of team
approach for proper diagnosis and its management.

In India the first child guidance clinic was founded in 1938, Mumbai by Dr Cliford Manshardt,
named “INDIAS CHILD GUIDANCE CLINIC”.

In Assam, Guwahati childrens clinic in lachit nagar,GS Road,near bharalu, named

“GUWAHATI CHILDRENS CLINIC”.

LEGAL AND EHTICAL ASPECT OF

GENETIC SCREENING :
Each new genetic test that is developed raises serious issues for medicine, public health and
social policy regarding circumstances under which the test should be used, how the test is
implanted, and what uses are made of its results. Should people be allowed to choose or refuse
the test, or should it be mandatory, as newborn screening is in some states? Or if the test results
are declared to third parties like employers , what precaution should be taken so that the couple
do not treated unfairly because of their genotype?

The answer of the questions are depend upon the important ethical and legal principle’s :

 AUTONOMY
 CONFIDENTIALITY
 PRIVACY
 EQUITY

1.AUTONOMY:

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EHICAL ISSUES

Autonomy can be defined as self determination, self –rule, or self – governance. Autonomous
agents or actions presuppose some capacity of reasoning, deciding and willing. Moral, social,
and legal norms establish obligations to respect autonomous agents and their choices. Respect for
personal autonomy implies that agents have the right or power to be safe governing, without
outside control. In this context of genetic screening , respect for autonomy refers to the right of
persons to control his/her destiny, with or without reliance on genetic information, and to avoid
interference by others with important life decisions , whether these are based on genetic
information or other factors.

Even though respect for autonomy is centrally important in our society, it is not centrally
important in our society, it is not absolute. It can be overridden in some circumstances, for
example , to prevent serious harm to others , as is the case in mandatory newborn screening for
phenylketonuria and hyperthyroidism.

LEGAL ISSUES : The legal concept of autonomy serves as the basis for numerous decisions
protecting a persons bodily integrity. In particular cases have held that competent adults have the
right to choose whether or not to undergo medical interventions.

 Before couple take a choice they have the right to be informed of facts that might be
material to their decisions, such as the nature and their condition and its prognosis.
 The potential risk and benefits of a proposed test or treatment.
 And the alternatives to the proposed test or treatment
 In the genetics health care providers have been held liable for not providing the
information that a genetic test is available.
 People also have the right to be informed about and to control the subsequent use of
tissue that has been removed from their bodies.
 If any additional sample was collected informed consent to be taken prior to the
collection of the original sample.
 If any physician/researcher suggesting that a patient undergo a particular test when the
researcher actually wanted the tissue for the researcher’s own additional use in a research,

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 that time a report consent from the office of technology assessment similarly stressed the
importance of knowledge and consent:-
 The consent of the patient is required to remove blood or tissue from his/her body, and
also to perform tests but it is very important that the patient be informed of all the tests
which are done and that a concern for the privacy of the patient extends to the control of
tissues removed from his/her body.

2. CONFIDENTIALITY :

ETHICAL ISSUE :

Confidentiality as a principle implies that some body of information is sensitive, and hence
access to it must be controlled and limited to parties authorized to have such access. The
information provided within the relationship is given confidence, with the expectation that it will
not be disclosed to others only within limits. The state or condition of non disclosure or limited
disclosure may be protected by moral, social or legal principles and rules, which can be
expressed in terms of rights or obligations.

In health care and other relationships, they should grant others access to our samples (e.g body
tissues). They may touch, observe, listen and palpate and even physically invade.

For example rules of confidentiality may prohibit a physician from disclosing some information
to an insurance company or an employer without the patient’s authorization.

Rules of confidentiality appear in virtually every code or set of regulations for health care
relationships. Their presence is not surprising, such rules are often justified on the basis of their
instrumental value : if prospective patients cannot count on health care professionals to maintain
confidentiality, they will be reluctant to allow professionals the full and complete access
necessary for diagnosis and treatment. Hence, the rules of confidentiality are indispensable for
patient and social welfare, without those rules people who need medical, psychiatric or other
treatment will refrain from seeking or fully participating in it.

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If the professionals public oath or the professions code of ethics promises confidentiality of
information, and the particular professional does not disobey it, then the patient has the right to
expect the information generated in the relationship will be treated as confidential.

It is widely recognized that the rules of confidentiality are limited in at least two sense

1. some information may not be protected and

2. The rules may sometimes be overridden to protect other values. For example: the laws
frequently require that health care professionals report gunshot wounds, vulnerable diseases
and other communicable diseases. Second health care professionals also has the right to
infringe rules of confidentiality. For e.g to prevent a serious harm from occuring .

LEGAL ISSUES :

The legal concept of confidentiality focuses on the information that people provide to their
physicians. The protection of confidentiality is thought to serve an important public health goal
in encouraging people to seek access to health care. It has been said that patient’s interest can be
served only in the atmosphere of total frankness and candor. Without the promise people might
avoid seeking medical help, thus potentially harming the patients as well as the community.

The first Doctor-patient confidentiality statute was passed in 1828 in New York during the small
pox epidemic to encourage people to seek medical help.

Confidentiality of health care information is also protected because disclosure of a person’s

medical condition can cause harm to him or her. An alternative set of legal principles those
penalizing discrimination protects people against unfair uses of certain information.

3.PRIVACY :

ETHICAL ISSUES : among the various definitions of privacy, one broad definition captures its
central element : Privacy is a state or condition of limited access to a person. People have privacy
if others lack or do not exercise access to them. They have privacy if they are left alone and do
not suffer unauthorized intrusion by others. If one person undergoes genetic testing privacy
includes the right to make an informed , independent decision about whether and which – others

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may know details of their genome ( e.g- insurers, employers, spouses and other family members ,
researchers etc).

First some philosophers argues that privacy rights but later Judith Jarvis Thomas holds that
privacy rights simply reflect personal and property rights, such as the right not to be looked at,
not to be overheard and not to be caused distress.

A second justification holds that rights to privacy are important instruments, including intimate
relations such as trust and friendship. A third approach finds that the basis for rights to privacy in
respect for personal autonomy. Decisional privacy is often very close to personal autonomy. The
language of personal autonomy reflects the idea of a domain or territory of self rule and thus
overlaps with zones of decisional privacy.

Whatever the rationale or justification is rights of privacy are the subject of ongoing debate about
their scope and weight. However their scope is not unlimited, and they do not always override all
other competing interests, such as interests of others.

LEGAL ISSUES :

 In the legal sphere the principle of privacy is an umbrella concept encompassing issues of
both autonomy and confidentiality. The right to make choices about one’s health care is
protected. This includes right to make certain reproductive choices, such as whether to
use genetic testing, and also right to refuse the treatment.
 An entirely different standard of privacy protects personal information’s. A few court
decisions find protection for such information under the constitutional doctrine of
privacy, but more commonly privacy protection against disclosure of personal
information is found under common law tort principles. In addition there is a federal
privacy act, as well as state statutes protecting privacy.

4.EQUITY :

ETHICAL ISSUES : Issues of justice, fairness and equity crop up in several actions, practices
and policies relating to genetic testing. It is now common place to distinguish formal justice from

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substantive justice. Formal justice require treating similar cases in a similar way. For instance a
society has to determine whether to distribute a scarce resource such as health care according to
person’s differences in need, social worth or ability to pay.

One crucial question is whether genetic disorders provide a basis for blocking access to certain
social goods, such as employment or health insurance. Conception’s of justice dictate that
employment be based on the ability to perform particular tasks effectively and safely. For this
conception’s it is just unjust to deny employment to someone who meets the relevant
qualifications but also has a genetic disease.

The fundamental argument for excluding genetic discrimination in health insurance amounts to
an argument for establishing a right to health care. One of the central issue debates about the
distribution of health care is one’s view of the ‘natural lottery’ in particular a ‘genetic lottery’
The metaphor of a lottery and thus undeserved. But even if health needs are largely undeserved
because of the role of chance, society’s response to those needs may vary, if health needs are
unfortunate, but not unfair, they may be the object of individuals or social compassion. Other
individuals voluntary association , society may be motivated by compassion to try to meet those
needs. If however the needs are viewed as unfair as well as unfortunate society may have a duty
of justice to try to meet those needs.

Another version of the argument from fairness holds that health needs represent departures from
normal species functioning and deprive people of fair equality of opportunity. Thus fairness
requires the provision of health care to maintain, restore or compensate for the loss of normal
functioning in order to ensure fair equality of opportunity.

Several committee members expressed concerns that these stated arguments are somewhat
weakened by the fact that a number of diseases are not the result of random events, but are
brought on dispensable habits such as cigarette smoking and excessive alcohol ingestion. If our
society discourages this habits there is a general agreement that access to full health care must be
ensured once illness develops. The argument that society should provide a decent minimum of
health care for all citizens and residents points toward a direction for health policy, but it does
not determine exactly how much health care the society should provide relative to other goods it
also seeks.

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LEGAL ISSUES :

The concept of equity serves as the underpinning for a variety of legal doctrines and statutes.
Certain needy people are provided health care, including some genetics services, under
government programs such as Medicare. In addition some legislative efforts have been made to
prohibit discrimination based on genotype. For example – some states have statutes prohibiting
discrimination is employment based on one’s genotype. And clearly all people over age 65 are
deemed to have a right to care.

GENETIC COUNSELLING:
INTRODUCTION: Families who have had child with a disability of any type often ask
questions about the genetic aspects of their child’s condition. Genetic counseling is an important
component to the care of a family with a child’s disability. The service is usually incorporated
into the genetics evaluation and is carried out in the context of overall diagnosis. In fact an
accurate diagnosis is a part of the first task in the genetic counseling.

DEFINITION:

 As per Webster’s dictionary – counseling is consultation, mutual interchange of opinions,

deliberating together.
 According to American society of human genetics. Genetic counselling is defined,
“Genetic counseling is a communication process which deals with human problems
associated with the occurrence or risk of genetic disorder in a family”

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  Genetic counseling is the process advising individuals and families affected by or at risk
of genetic disorders to help them understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease, the field is considered necessary
for the implementation of genomic medicine.

REASONS FOR SEEKING GENETIC COUNSELLING :

- A child has been born with a diagnosed congenital defect or a group of malformations.
- A medical problem has affected more than one member of the family and suspected to be
genetic.
- A family has one or more mentally retarded children or having delayed physical and
mental developmental milestones.
- Exposure of some environmental agents
- Closely related couples want to know their risk of having a child with a birth defect
- When one person wants to marry, but known about hereditary problem in one or both
family
- A genetic disorder is detected during prenatal diagnosis.

The information’s received by the families during genetic counseling can affect the parents and
normal siblings decision about having future children and also about the care of the affected
child throughout the life. The information’s help the individual or families about the present and
future possible genetic disorders and the various options available for safeguarding from
recurrence of such a disorder or minimizing its adverse effects.

PURPOSES :

 Advise couples before conception of the probability of conceiving and infant with a
genetic disorder.
 Advise couples after conception and fetal screening of whether the fetus has a genetic
disorder.
 Inform the couple good options available to them including choosing not to become
pregnant. The information should be represented in language the couple can understand

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 the risks should be placed in the proper perspective in relation to a random risk situation.
The decision is never right or wrong, the counselor should be supportive of the decision
the family makes.

TYPES OF GENETIC COUNSELLING :

1.PROSPECTIVE

2. RETROSPECTIVE.

1.PROSPECTIVE : Wider applications to cover a number of recessive defects. It identifies the

individuals for any particular defect by screening. For e.g –sickle cell anemia which can be
prevented.

2.RETROSPECTIVE : This can be done after contraception, pregnancy, termination and

sterilization.

GENETIC COUNSELING TEAM : It can be done using a team approach to convey

information to a family.

 Medical specialist
 Genetic counselor
 Additional member

MEDICAL SPECIALIST :

 Often trained physicians , specially trained nurses, clinical geneticist

GENETIC COUNSELOR :

 Formally trained or experienced in genetic area

 They can be nursing personnel, social worker and from the educational institutions.

ADDITIONAL MEMBERS :

 Medical specialist consulted for specific investigations

 Parents and lay groups sometimes & family physician or primary medical specialists.

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QUALIFICATION OF A COUNSELOR :

ACADEMIC QUALIFICATION

- MA in psychology in BA, B.ED OR BA , MED

- Diploma course in guidance
- Counselor must have knowledge about personality problems testing, mental hygiene and
counseling techniques.

EXPERIENCE : according to smith requires the following six types:

-competence as a leader in guidance program

-Competence as a counselor. It includes-

 understanding the problem of the child

 Establishing the rapport with the child
 helping the child to solve the problem
- competence in interpreting and using information
- competence in placement and follow up service
- competence in evaluating the counseling service itself

PLACES TO WORKING AS A COUNSELOR :

1. HOSPITALS : some counselors are hired to assist patients overcome various

psychological and behavioural issues.
2. INPATIENT OR OUTPATIENT DETOXIFICATION: counselors are hired to assist
with 24 hrs care of high risk patients battling substance abuse.
3. RESIDENTIAL CARE FACILITIES : A residential care facility provides counseling
services to people living in a environment that requires continuos supervision. They may
include facilities that house troubled or at risk youths, autistic childs or people with
mental or physical abilities.

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 4. HALFWAY HOUSE: They hire rehabilitation and substance abuse counselors to guide
patients or residents in need of help transitioning back to a societal environment.
5. CORRECTIONAL FACILITIES OR PRISONS: From mental health counseling to
substance abuse counseling the prison system employs counselors to provide individual
and group therapy for individuals who are jailed or living in a correctional family.
6. THE EDUCATIONAL SYSTEM : Primarily helping students to better navigate the
stresses of growing up successfully completing their studies, and they play vital role in
school, college and university students counseling process.
7. CAREER CENTERS : The majority of graduates with a vocational or career counseling
degree work in career centers associated with high schools, colleges as well as
government agencies.

PHYSICAL SET UP FOR GENETIC COUNSELING

Counseling can occur almost anywhere but comfortable physical settings promote the process
better than others. Some of the physical conditions involved in counseling as mentioned by
Benefamin and Snertzer are :

 The environment should be calm, quite, comfortable snoothing and aesthetic . there
should not be distracting stimuli which can disturb the process of counseling.
 There should not be a table between counselor and counselee as it can create barrier in
the development of trustworthy and close relationship. If required a desk can be placed at
the side of the counselor to place tissue paper.
 The distance between counselor and counselee can have significant effect in the
development of rapport. The distance should not be so close and so far but it should be
maintained at the comfort level of the counselee which is determined by some variables
such as culture backround, gender, age etc. distance of thirty to thirty nine inches has
been found to be the average range of comfort between counselor and client of both
genders.
 The chairs for counselor and the counselee should be placed at right angle as it facilitates
the counselee to either look at the counselor or straight ahead.

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 Place ‘do not disturb’ sign on the door to prevent others from entering when the
counseling is on progress.
 Assure auditory and visual privacy to the client as per the professional codes of ethics.

TIME AND VISITS FOR COUNSELING :

Counseling has been found to be most productive when incorporated into a clients
lifestyle for approximately 12-16 sessions , most typically delivered in once weekly
sessions for 45 minutes each. For most folks that turns out to be about 3-4 months of once
weekly sessions.
In communal settings it is typically expected the counselor to see 8-10 persons a day.
However in terms of the number a counselor can attend with full capacity, for long time
practice and without burnout, its probably between 20-30 a week for most therapists.
Also it helps if there are a few hours in between the sessions.
Individual counseling sessions typically last between 45-50 mins. The frequency and
duration of therapy will depend largely on counselees needs, treatments, and progress.
For subsequent or follow up sessions counselee will meet counselor for approximately 45
mins, which will be scheduled according to a mutually agreed upon plan. If any counselle
want any additional session then counseling team will find a clinician in the local
community.

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STEPS OF COUNSELLING :

Identify their needs

Family history & history of pregnancy

Establish the diagnosis

Communicate the information learned

Help the concerned individual & family to adjust psychologically

FIRST STEP : when individual or family desires genetic counseling, the first step is to identify
their needs that is their expectations and concerns about the disorder in question.

Example : will our child be normal, what are expectations of survival chance of our child etc.

They may want to know its course, the possibility of recurrence, the possibility of prevention and
expected prognosis of clients. At this time the need of continuing emotional support.

SECOND STEP : includes family history and history of pregnancy.

Family history includes when a disorder have a genetic basis in question, a detailed family
history is essential for the formulation of the family pedigree. A complete pedigree includes 2 nd
and 3rd degree relatives like grand parents and their parents also. The maternal – fetal history can
provide information on drug ingestion, infection or environmental contaminants to which the
mother is exposed during pregnancy.

THIRD STEP: This is to establish the diagnosis. To accomplish the goal, a physical
examination is required for the affected individual and appropriate family members in addition to
varied diagnostic procedures.

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FOURTH STEP : in this step counseling is to communicate the information learned to the
concerned persons. This information may include diagnosis, risk of recurrence, course of the
condition , possible therapy and prognosis.

Information also can be given concerning whether future reproduction should be considered or
whether the alternatives such as conception, sterilization , artificial insemination or adaption
would be followed.

LAST STEP : In counseling process is to help the concerned individual or family to adjust
psychologically to the information’s. Any negative emotions such as guilt and anxiety should be
discussed and if possible alleviated.

In genetic counseling of a family, both parents should be present at the discussion to prevent
possible interpretations. The conference should be scheduled in a private room without the
presence of affected child, who might be traumatized by the emotional tone of the discussions.

FOR EFFECTIVE GENETIC COUNSELING THE FOLLOWING

PREREQUISITES TO BE SATISFIED :-

- Obtain accurate prenatal, natal and postnatal history along with medical history of the
disorder and family history.
- Prepare a pedigree chart or family tree
- Detailed recording of clinical examination of the affected child
- Confirmation of the diagnosis by relevant investigations
- Information’s regarding support groups for the benefit of the family and available
management facilities and follow up.
- Awareness about the emotional reactions of the parents and their acceptance of the
malformed child.

Genetic counseling can be done by group of specialists including physicians, geneticist,

psychologists, biochemists, cytologists, pediatric nurse, social worker. Counseling can be done
to the individual parent or to the family according to the nature of problem. It can be provided in
as little as one session and as many sessions as the counselor and family feel they need to

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understand the complexities and emotional response of the disorders. It is important after a single
counseling session to emphasize for follow up meeting whenever any problem or questions arise.

GENETIC COUNSELING CENTRES :-

In U.S, ‘Bostons children’s Hospital’ is known for comprehensive clinical care including
diagnostics, genetic counseling and individualized management in concert with other specialities
for all childrens. It is one of the largest pediatric genetics practices in the world with applying
new technologies, where counselors works with geneticist closely to intervene the patient.

In India , Genetic and Mental Retardation Clinic, Dept of pediatrics, AIIMS, New Delhi.

And Genetics Department , Manipal Hospital , Karnataka.

In Assam, Named ‘COUNSELING FOR CHILDREN AND ADOLESCENT IN

GUWAHATI”,By lane 3a, Tarun nagar, Guwahati.

And ‘CENTER FOR CHILD AND ADOLESCENT DEVELOPMENT’, Dispur, sarumotoria,

Guwahati, Assam.

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LEGAL & ETHICAL ASPECTS OF
GENETIC COUNSELLING :
As genetic counselors relay important genetic and reproductive information to families at risk
and to the public, they often play an important role in the way the relevant ethical issues are
understood and acted upon.

Major ethical principles which govern the attitudes and actions of counselors include:-

1. Respect for patient autonomy or the patient’s right to information and his/her right to
make his/her own decisions.
2. Beneficence or taking action to help benefit others and prevent harm, both physical
and mental
3. Justice which requires that services be distributed fairly to those in need.

Other moral issues include veracity the duty to disclose information or to be truthful,
and respect for patients confidentiality. Nondirective counseling a hallmark of the
genetics profession, is largely in accordance with the principle of respect for patient
autonomy and incorporates the other ethical principles as well.

Genetic counseling raises special ethical issues related to confidentiality and privacy
protection. Information about the individual, family history, carrier status, risk of
genetic disease to self can be stigmatizing and hence needs to be kept confidential.
Most of the time the client is concerned about the future planning or personal health
risks. The counselor have to provide proper information by analyzing the health risk
of the patients.

The psychosocial impact of the carrier status is very crucial in our society. Hence a
through assessment of the socio-cultural issues is essential along with large scale
awareness programmes including comprehension of the information amongst young
adults, patients and their relations and medical professionals themselves with the help

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of religious, social leaders, social organizations, patient support groups and effective
mass communication systems like radio, TV, films, periodicals etc to create public
awareness. This will facilitate the role of the genetic counselors to a great extent.

Genetic counseling is a multistep process involving clinical expertise and

psychosocial impacts, hence specially trained clinicians can offer better counseling to
such individuals and families. He should have excellent communication skills. And a
counselors should have the required medical knowledge, necessary skills for
providing efficient and effective counseling and also proper attitude, behavior and
appropriate training.

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POTENTIAL LIABILITIES IN GENETIC COUNSELLING: Genetic counseling
raises novel and difficult issues of legal liability. professionals in various fields can be
held liable for negligent statements that cause financial or other damage. It is
uncertain how this principle applies to genetic counselors whose explanations of the
risks associated with appositive genetic test result lead to psychological harm. A
physician who employs a non physician genetic counselor may bear a vicarious legal
liability for any negligence of the counselor . This vicarious liability arises because an
injured person can be more certain of a damage award being paid from the assets of
employers than from those of employees.
The sizeable resources of the Canadian medical protective association reinforce this
perception. Employers are entitled to indemnification by employees whose
negligence makes them vicariously liable, but such indemnities may be worthless.
The risk of the employee being unable to pay indemnities is reduced if the employer
has made insurance coverage a condition of employment.
More controversial is liability for negligence in counseling that results in patients
conceiving or giving birth to children who would otherwise not be conceived or born
Or in patients terminating pregnancies that otherwise would be brought to term.
Actions for pregnancy resulting from negligently performed sterilizations may
succeed. Canadian courts found that negligence resulting in birth can be
compensated. However their law did not have clear distinctions between claims
variously described as wrongful pregnancy, wrongful conception, wrongful birth and
wrongful life actions, which often succeed elsewhere, sometimes on the grounds of
negligence in genetic diagnosis.

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ROLE & FUNCTIONS OF A NURSE IN
GENETIC COUNSELLING :-
As a member of the team , the nurse has the responsibility of being liaison among the family,
referring physician or agency and the medical-genetics team. The nurse is usually the first person
with whom the family has contact. The nurse can help the family by assuring them and
explaining about importance of accurate diagnosis for appropriate management. Nurses are
usually the ones who provide follow-up care and maintain contact with clients. They are in the
best position to sustain a close relationship with families, for example – community health nurses
may have already established rapport with families.

Counseling and diagnosis usually involve some well established processes. The nurse is
responsible for having a beginning understanding of these processes and the impact they may
have on the family. In this way they will be better prepared to provide supportive care.

ROLES :

“ knowing others is wisdom, knowing yourself is enlightenment”

-Tao Tzu

Counselor is specialist in education counselor responsibilities can be classified : diagnostic,

therapeutics, evaluation and research with specialized services and skills. A counselor is selected
by virtues of interest, training, experiences and competence. The roles are :-

1.ADVISOR : One of the important role of counseling is offering advice to counselee or parents.
The counselor has to understand and the problem of the counselor.

2.COMMUNICATOR: Counseling will improve both upwards and downward communications

abilities of the counselees or the childs family/parents.

3.RELEASER OF EMOTIONAL TENSION: Releasing emotional tension is an important

function of counseling. Parents feel emotional release from the frustration after counseling.

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4.CLARIFIED THINKER : Release of tension and thereby removal of mental blocks to the
solution through counseling allows the counselee to think freely and objectivity. Thus clarified
thinking tends to be the result of emotional release.

5.REORIENTATIVE : Reorientation is not just emotional release or clear thinking. But it

involves a change in the counselee psychic self- through a change in the basic goals and values.

6. DECISION MAKER FOR CHILDRENS : Adult make parents have the moral and legal
right to make decisions about their own medical care. Because young childrens are not able to
make complex decisions for themselves, the authority to make medical decisions on behalf of a
child usually falls to the childs parents.

- PARENTS AUTHORITY TO TAKE DECISIONS FOR CHILDREN: parents have

the responsibility to make medical decisions on behalf of their children. However
parental decision should be guided by childs best interests to do the things.
- WHEN PARENTAL AUTHORTY FOR DECISION MAKING CAN BE
CHALLENGED ? Medical caretakers have an ethical and legal duty to advocate for the
best interests of the child when parental decisions are making harm to the child. When a
satisfactory resolution can not be possible after a respectful discussion and consultation,
seeking involvement of state child protection agency is necessary.
- WHEN THE PARENTS ARE UNAVAILABLE : when the parents are available to
make decisions about a childs treatment, medical care takers may provide treatment
necessary to prevent harm to the childs health until the family comes for the consent or
permission to be taken.
- WHEN AN OLDER CHILD DISAGREES WITH HER PARENTS : The wishes
of competent older children regarding their medical care should be taken seriously. If
the medical care taker judges a child competent to make the medical decision in
question, she should first attempt to resolve the issue through further discussions. If
that fails, the medical care takers should assure that the childs voice has been heard
and advocate for the child. In intractable cases, an ethics consultation or judicial
hearing should be pursued.
- WHEN A MINOR CAN TAKE DECISIONS : There are 3 circumstances

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First, if a minor meets this situation like-

- economically self supporting and not living at home

- married
- a parent
- on active duty in the armed services.

Second, a determination that a minor is mature usually requires that the minor be mature usually
requires that the minor be older than 14 years of age and have demonstrated a level of
understanding and decision making ability that approximates that of an adult. While some states
allow physicians to make this determination, most require a judicial determination of mature
minor status.

Third, all states make condition specific exceptions to the requirement of parental consent.
These laws may allow an adolescent to seek treatment without parental consent for sexually
transmitted diseases, pregnancy, contraception, psychiatric disorders and drug or alcohol abuse.

- DECISION MAKERS FOR ORPHAN CHILD : An organization that has adopted the
child with legal authorities they have the right to make decision for the child till the child
is become self dependent.

FUNCTIONS OF A COUNSELOR :

 PREPARATION FOR COUNSELING :

 DATA COLLECTOR -The initial interview or intake visit is often conducted by a
nurse. At this time a detailed family history is obtained including information about
the social aspects of their lives and the meaning that disorder has for this particular
person or family. The family is told what to expect during the counseling process,
procedures to be performed and the personnel with whom they will be involved. The
interview serves as an opportunity to assess the clients or family’s need and reduce
anxiety. Most people come for counseling are nervous and apprehensive because
they are not only concerned about a genetic condition but also know that the outcome

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 of the counseling and the decisions made may significantly alter their lives, therefore
a distraction free atmosphere should be provided. This may require care for small
children whose restlessness and behavior can divert attention from what is being
said.
The people involved need to know where and how the service is conducted and
structured, including such aspects as the numbers and timing of visits the family
members who should come, and some concepts of what the family can expect during
the process. Most families have only vague or confused ideas of what a genetic
counseling service can do for them. Some have unrealistic expectations. Instructions
should be clear and specific and may need to be repeated. The counselor will need
information about the family, their needs and pertinent aspects of the case that may
facilitate the counseling process.
 FAMILY ADVOCATE : The nurse can assume the role of family advocate, helping
each individual to obtain the best guidance possible. Families are often sensitive
about or even ashamed of their genetic problems, they may avoid appointment’s . As
a part of their preparation they may require several call’s or visits to the hospitals,
therefore the family should be feels secure enough to follow the instructions.
 DIAGNOSTIC TESTS AND PROCEDURES :
The family and others directly involved with diagnostic procedures need to know purpose
of each test, what they can do facilitate the process. They may be concerned about
whether the test will be painful, whether they will be required to undress and whether
they can be accompanied by a family member. Nurses can do a great deal to allay fears
and to supply support and reassurance.
The test are not usually performed at the time of initial interview but a subsequent visit or
visits. They need to give time to the family so that they should get enough time to think
and get all the information’s they wanted. for this several subsequent visits are needed.

A pregnant women who has chorion villus sampling or amniocentesis for detection of
genetic disease in a fetus is particularly anxious. Although the physical risk of harm is
very negligible. But if the fetus is found fine then the procedure performed the parents
need only a thorough explanation of the procedure and support during the test.

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 FOLLOW UP CARE :
Maintaining contact with the family after genetic counseling testing or therapy is one of
the most important nursing responsibilities, since the success of counseling testing
therapy is one of the most important nursing responsibilities, since the success of
counseling is measured by the way the family used the information presented to them.
Most of the counseling services scheduled at least one post diagnostic visit to identify
how well the family is incorporate new information’s into their lives. Follow up visits to
be planned so that the families all doubts can be cleared. Clarifying families doubts is an
important nursing function.
For example the disorder may be an inborn error of metabolism, such as PKU or
galactosemia and require consistent and rigid adherence to a diet. The family may need
help in securing the necessary formula counseling from dietetic services.
Referral to appropriate agencies another essential part of the follow up management.
Many organizations and foundations such as the Cystic Fibrosis Foundation and the
Muscular Dystrophy Association help provide services and equipment for effected
children. Nurses should become familiar with services available in their community that
provide assistance and education to families with these special problems.

 EMOTIONAL SUPPORT :
Probably the most important of all nursing functions is providing emotional support to
the family during all aspects of the counseling process. Feeling generated under the real
or imagined threat posed by a genetic disorder vary as much as the people being
counseled. Responses may include several stress reactions, including apathy, mental,
anger, hostility, fear, embarrassment, grief, loss or self esteem.

Guilt and self blame are universal reactions many look on the disorder as a stigma-
especially if the disorder is visible to others. Sometimes old wives tales, superstitions and
long held misconceptions are factors that may influence a family’s reaction to a genetic
disorder.

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 The attitude of other family members and relatives can have a significant impact on some
people- especially in situations in which the cause can be identified. Recessive disorders
are less likely to cause blaming, since both partners carry the defective gene.

Unfortunately most families tend to view genetic disorder as a cause for shame, its
presence in a family may be cause to alter plans for marriage or child bearing even when
the chances of recurrence is no more than a random risk.

Some families may risk a child with a disorder that produces a minor defect or even an early
death but will not risk having a child with a lifelong physical or mental disability.The mentality
of the families also influences the families respond to a disorder.

Factors such as religious beliefs, intellectual level, and prior attitudes toward the disorder
affect the way families respond to counseling information. Sometimes health
professionals create barriers to the families to come forward, and being non judgemental
is not possible every time for the nurses, it may be intentionally or unintentionally , nurse
may influence families to take decisions . This happens when family members are
confused to take decisions. Family may lies pressure on nurse by asking such questions
like : “ what would you do if you were me ?”
In that place family may need education, guidance and support throughout the counseling
process. They should be given the facts and possible consequences and all assistance they
need in problem solving, but the final decision regarding a course of action must be their
own.

JOURNALS :

“Down syndrome : an insight of the disease”

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ABSTRACT : down syndrome is one of the commonest disorders with huge medical and
social cost. Down syndrome is associated with number of phenotypes including congenital heart
defects, leukemia, alzeihmer’s disease, hirschprung disease etc. Down syndrome individuals are
affected by these phenotypes to avariable extent thus understanding the cause of this variation is
a key challenge. The incidence of trisomy is influenced by maternal age and differs in population
( between 1 in 319 and 1 in 1000 live births) . down syndrome has high genetic complexity and
phenotype variability. Trisomic fetuses are at elevated risk of miscarriages and down syndrome
people have increased incidence of developing several medical conditions . recent advancement
in medical treatment with social support has increased the life expectancy for down syndrome
population. In developed countries, the average life span for down syndrome population is 55
years.

RESULT: down syndrome or trisomy 21, being the most common chromosomal abnormality
among life biths, is associated with a number of congenital malformations. Since various clinical
conditions are associated with down syndrome, hence the management of these patients requires
an organized multidisciplinary approach and continuous monitoring of these patients.

CONCLUSION :

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 Genetic screening is the process of checking family medical history and medical records.
Ordering genetic tests, evaluating the results of these tests and records. Advances in genetic
testing have resulted in tremendous benefits to patients, and challenges to providers. Genetic
screening and counseling should be available equally to everyone , provided for whom need it
the greatest. All genetics services should be voluntary with the exception and the information
that may affect the health of an individual or fetus should be disclosed. Confidentiality should be
maintained but individual privacy should be protected from institutional & third parties. In
general that principles of autonomy, privacy, confidentiality and equity be maintained and the
disclosure of genetic information and taking of genetic information and taking of genetic tests
should not be mandated.

BIBLIOGRAPHY :

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vikas & company (medical publishers) INDIA, bikrampura, tanda road, jalandhar city-
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2. Basavanthappa .B.T, pediatric /child health nursing, 2011 edition, published by Ahuja
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related-to-medical-genetics.
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