ADVANCED NURSING PRACTICE

Seminar on

GENETIC COUNSELLING and

PRACTICAL APPLICATION OF GENETICS IN
NURSING

SUBMITTED TO SUBMITTED BY
Mrs. Ambily S Ms. Gopika S
Associate Professor Ist year M.Sc. Nursing
KIMS College of Nursing KIMS College of Nursing

SUBMITTED ON
30.08.2022

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 INDEX
SI. NO CONTENT PAGE NUMBER

1 INTRODUCTION 3

2 DEFINITION 3

3 GENETIC COUNSELLOR 3

4 GUIDELINES FOR GENETIC COUNSELLING 4

5 GENETIC COUNSELLING PROCESS 5

6 PURPOSE OF GENETIC COUNSELLING 7

7 STEPS IN GENETIC COUNSELLING 8

8 FOLLOW UP IN GENETIC COUNSELLING 10

9 GENETIC SCREENING 11

10 TYPES IN GENETIC COUNSELLING 11

11 APPLICATION OF GENETIC COUNSELLING 12

12 ETHICAL ISSUES IN GENETIC COUNSELLING 14

13 ADVANTAGES OF GENETIC COUNSELLING 15

14 AFTER CARE OF GENETIC COUNSELLING 18

15 COMPLICATIONS 18

16 RESULT AFTER GENETIC COUNSELLING 18

17 HEALTH CARE ROLES 18

18 ROLE OF NURSE 19

19 APPLICATION OF GENETIC IN NURSING 20

20 RESEARCH ARTICLE 21

21 CONCLUSION 21

22 REFERENCE 22

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INTRODUCTION
Genetics is the scientific study of genes and heredity of how certain qualities or traits
are passed from parents to offspring as a result of changes in DNA sequence. A gene is a
segment of DNA that contains instructions for building one or more molecules that help the
body work. DNA is shaped like a corkscrew-twisted ladder, called a double helix. The two
ladder rails are called backbones, and the rungs are pairs of four building blocks (adenine,
thymine, guanine, and cytosine) called bases. The sequences of these bases provide the
instructions for building molecules, most of which are proteins. Researchers estimate that
humans have about 20,000 genes.

All of an organism’s genetic material, including its genes and other elements that
control the activity of those genes, is its genome. An organism’s entire genome is found
in nearly all of its cells. In human, plant, and animal cells, the genome is housed in a
structurecalled the nucleus. The human genome is mostly the same in all people with just
small variations.

DEFINITION
It is defined as a process in which patients or their relatives at the risk of a genetic
disorder are made aware of the consequences of the disorder, its transmission and the ways
by which this can be prevented or mitigated‖.

Genetic Counseling is a communication process by which personal genetic

riskinformation is translated into practical information for families‖.

THE GENETIC COUNSELOR

The Genetic Counselors are health care professionals with specialized training
andexperience in the areas of medical genetics and counselling

CHARATER OF COUNSELLOR
Compassion
Patients seek advice on family care or serious illness, so genetic counselors must be sensitive
and compassionate when communicating their findings.

Critical-thinking skills.
Genetic counselors analyze laboratory findings to determine how best to advise a patient
orfamily. They use their applied knowledge of genetics to assess inherited risks properly.

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Decision-making skills.
Genetic counselors must use their expertise and experience to determine how to
disseminatetheir findings properly to their patients.

Speaking skills.
Genetic counselors must communicate complex findings so that their patients can
understandthe magnitude of a health problem.
ROLE OF GENETIC COUNSELOR

1. Helping people to understand information about birth defects or genetic disorders. This
includes explaining patterns of inheritance, recurrence risks, natural, history of disease
andgenetic testing options.

2. Providing non-directive supporting counseling regarding issues related to a diagnosis

ortesting options.

3. Helping individuals and families makes decisions with which they are comfortable,
basedon their personal ethical and religious standards.

4. Connecting individuals and families with appropriate resources, such as support groups
orspecific types of medical clinics locally and nationally.

GUIDELINES FOR GENETIC COUNSELLING

• Genetic counselling has to be provided or supervised by a health care professional
appropriately trained for genetic counselling. Non-genetics health care
professionalshave a responsibility to recognize their abilities and limitations with
regard to provision of genetic services.
• Health care professionals should not agree to testing without pretest counselling
incircumstances were doing so would go against their professional judgment
• Predictive test for future severe illness with no options for treatment or prevention
should not be performed without pre and posttest genetic counselling psychological
evaluation and follow up
• Before actual testing takes place there should be free and informed consent

• In situations where testing children or other is considered, those individual should

be involved in genetic counselling and in the decision-making process according
to their capacities.

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 • Testing for adult-onset conditions in children should only be considered
whentreatment or surveillance would begin in childhood

GENETIC COUNSELLING PROCESS

Gathering family history.

• Look over medical records, medications,

• ultrasound before pregnancy.

• Interactions with parents about inheritance patterns, risk patterns.

• Puts forth various options available.

If the parents learned prior to conception that they are at high risk for having a child with
asevere or fatal defect, options might include.

Pre-implantation diagnosis

• When eggs that have been fertilized in vitro (in a laboratory, outside of thewomb) are
tested for defects at the 8-cell (blastocyst) stage, and only non-affected blastocysts are
implanted in the uterus to establish a pregnancy.

• Using donor sperm or donor eggs.

Preparation for consultation

• Check that all information needed for the consultation has been obtained
• Review relevant health unit record and/or clinical genetics unit records
• Discuss the case with supervisor or with relevant colleagues as necessary • review
relevant medical literature
• Prepare information that will be given to the client, including appropriate support
group information and fact sheets as applicable
The consultation

The physical setting for the genetic counselling consultation is important. The
consultation room and examination facilities should ensure total privacy for the client, as the
matters discussed may be confidential. Children should be examined in the presence of a
parent or guardian, and females should have another female present if the examining doctor is
male. There should be a limit on the number of professionals present during the consultation.
Rapport with the family should not be compromised by the educational needs of

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professionals and trainees. Consent should be obtained from the client for other health
professionals, such as students and trainees, to be present at the consultation. Elements of the
counselling process, which may be addressed over more than one consultation, include:

• Setting the agenda of client and counsellor

• Gathering specific health information
• Informing the client about how their information will be stored and who will have
access to it process of genetic counselling
• Making or verifying the diagnosis by history taking, physical examination and use of
information obtained before or during the consultation
• Providing information about the condition, which may include its cause, pattern of
inheritance, natural history, complications, and treatment options, risk of a condition
affecting the client, their children and/or other relatives
• Discussing the medical, emotional and social implications for the individual and
family
• Considering, and discussing with the client, implications for genetic relatives
• Presenting options, including genetic testing and reproductive options and assisting
with informed decision making in a non-judgmental / non-coercive manner
Genetic tests

There are a variety of genetic tests that may be available to clients. The choice of which
test is the most appropriate for the client's needs should be determined as part of the genetic
counselling process. The client / family should be informed about the nature of the sample
required, appropriateness of the test, the information the test is seeking, the limitations of the
test, and the possible implications of the result. It is important that clients have some idea of
how long results will take and the details of any associated financial cost to the client, and a
contract should be agreed for arrangements to give the results. In some cases results might be
obtained faster if the test is undertaken via a private pathology service and the client pays for
the test. Clients should be informed of this option. The appropriate request forms should be
completed and a system of follow-up or tracking of outstanding results must be set in place
for efficient reporting and action

Referral to other health professionals

• Genetic services may facilitate referral (by the supervising medical practitioner or
via liaison with the referring general practitioner or specialist) of an individual or

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 family for:
• A second opinion
• Emotional and psychological support;
• Treatment or management options considered to be outside the expertise of the
genetics unit

PURPOSE OF GENETIC COUNSELING

There are several purposes or aspects to be addressed within the scope of genetic
counselling.These include obtaining a pedigree, tracing, and ethnicity, exploring issues of
consanguinity and documenting exposures to toxins, disease, or environmental agents
during pregnancy

Pedigree

In all types of genetic counseling and important aspect of the counseling process is
information gathering about family and medical history. Information gathering is performed
by drawing a chart called a pedigree. A pedigree is made of symbols and lines that represent
afamily history. To accurately assess the risk of inherited diseases, information about three
generations of family, including health status and cause of death, is usually needed. If a family
history is complicated, information from more distant relatives may be helpful, and medical
records may be requested, for any family members who have had genetic disorders. Thorough
examination of a family history may enable a counselor to calculate the probability of
occurrence of genetic disorders in the future.

Ethnicity

In obtaining a family history, a genetic counselor asks about a person‘s ethnicity or

ancestral origin. There are some ethnic groups that have a higher chance of being carriers of
some genetic disease or abnormalities. For instance, the chance that an African American is
acarrier of a gene for sickle cell disease is one in ten. People of Jewish or central European
ancestry are likely to be carriers of several conditions including Tay-Sachs disease,
Canavan’s disease, and cystic fibrosis. People of Mediterranean ancestry are likely to be
carriers of a type of anemia called thalassemia.

Consanguinity

Another question of genetic counselor will ask about in obtaining a family history is
whether the couple related to one another by blood. The practice of marrying or having

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children with relatives is infrequent in the United States, but is more common in some
countries. When two are related by blood, there is an increased chance for their children to
beaffected with conditions that are inherited in a recessive pattern. In recessive inheritance,
each parent of a child affected with a disease carries a single gene for a disease. The child
gets two copies, one from each parent, and is affected. People who have a common ancestor
are more likely than unrelated people to be carriers of genes for the same recessively
inherited disorders. Depending on family history and ethnic background, blood tests can be
offered to couples to get more information about the chance of these conditions occurring.

Exposure during Pregnancy

During prenatal genetic counseling, the counselor will ask about pregnancy history.
Ifa woman has taken medications or has had exposure to a potentially harmful substance
from the environment such a chemical, toxin, or radiation, the genetic counselor can discuss
thepossibility of adverse effects. Ultrasound is often a useful tool to look for some effects of
exposure.

Precautions

There are no physical precautions that are needed before genetic counseling. However,
persons who will receive the result of genetic test should be prepared mentally and
emotionally for the possibility of unpleasant information. This include discussing if they want
to know the result of genetic testing and what choice they may have to make based on the
information supplied

STEPS OF GENETIC COUNSELLING

1. An accurate diagnosis of disorder. To complete an accurate diagnosis the
followingprocedure should be followed:

A: History: A proper record of the history of the patient is necessary:

• This includes both present and relevant past history.

• Family history includes siblings and other relatives also. Kindly note if there is
anyother person in the family with a similar problem.

• Obstetric history of includes exposure to teratogens (drugs, X-rays) in

pregnancy.History of abortion or still birth if any should be recorded.

• Enquiry should be made about consanguinity as it increases the risk especially

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 inautosomal recessive disorders.

B. Pedigree Charting: At a glance this offers in a concise manner the state of disorder in
afamily. Constructing a pedigree with proper interrogation though time consuming, is
ultimately rewarding. If forms an indispensable step towards counseling.

C. Estimation of risk: It forms one of the most important aspects of genetic counseling.
Itis often called recurrence risk.

To estimate it one requires taking into account following points:

• Mode of inheritance.
• Analysis of Pedigree/ Family tree.

• Results of various tests such as linkage studies.

In order to arrive at a risk, one has to work out the probability. The probability of an outcome
is defined as the no. or more precisely the proportion of times it occurs in a large series of
events. Routinely the probability is indicated as a proportion fraction of one.
D. Transmitting Information: After completing the diagnosis, pedigree charging and
estimation of risk the next most important step is of communicating this information to
the consultants. This important functioning involves various factors. These are often not
taken seriously, but are of crucial importance in genetic counseling.

These are as follows:

• Psychology of the patient.
• The Emotional stress under prevailing circumstances.
• Attitude of family members towards the patients.
• Educational, social and financial background of the family.
• Gaining confidence of consultants in subsequence meetings during follow up.
• Ethical, moral and legal implications involved in the process.
• Above all, communication skills to transmit facts in an effective manner i.e., making
them more acceptable and palatable. Now the role of genetic counselor is to render
helpto consultants enabling them to take decisions.

E. Management: In genetics, Treatment implies a very limited scope. It naturally aims

forprevention rather than cure.

In fact, for most of the genetic disorders cure is unknown. Treatment is therefore
directed towards minimizing the damage by early detection and preventing further

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 irreversible damage.

For example, n PKU, i.e., phenylketonuria. This disorder is characterized by a

deficiencyof phenylalanine hydroxylase enzyme, which is necessary for the conversion
of phenylalanine to tyrosine.

F. Preventing Aspects: In the present situation the aim of a geneticist is chiefly to prevent
genetic defect. This means that a prenatal diagnosis of the disorder should be made and
the pregnancy (with abnormal fetus) be terminated. Termination of pregnancy should
however be acceptable to the couple seeking advice .

2. A problems of infertility or inability to get a child. The couple has two alternative either
they can think of adoption, in which case pre-adoption counseling is important. In such
children a careful clinical examination of the child is done to rule out the possibility of
a genetic disorder, since the parental/family background of these children is unknown.

3. Another alternative for such couple would be to go in for an AID (Artificial

insemination donor). This is appropriate if the father has or is at risk of an autosomal
dominant trait. It is also advisable when both partners are carriers of an autosomal
recessive disorder. However, AID is not indicated, if mother has an autosomal dominant
or X-linked disorder.

4. Analysis of a given case may be achieved through genetic test such as chromosome
analysis or with the help of various biochemical carrier detection tests. The test results
if negative, shall reassure the consultant that they are not at risk of disorder.

FOLLOW-UP IN GENETIC CLINICS

Follow up is essential in all the branches under the faculty of medicine. It is more
important for the patients, attending genetic clinics. So, it is desirable to arrange more follow-
up interviews. This will make sure that they (consultants) understand and remember the
information based on to them. In some families with genetic disorders repeated follow-up
visits to the genetic clinic become essential. These visits are aimed at preventing the disease
in any other family member by a reproductive planning. Prenatal diagnosis followed by
termination of pregnancy, if necessary. For the family members with genetic disorders,
acceptance of the disease, treatment, if possible and counseling towards a more palatable
wayto lead life may be suggested.

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GENETIC SCREENING
Genetic Screening forms a part of the public health programmed. The aim of such
screening programmers was to identify newborns with genetic disorders so that early
detection and treatment of the disease could be undertaken. 296 Genetic screening, in contrast
to genetic testing, is a broader concept and applies to testing of populations or groups
independent of a positive family history or symptom manifestation.

Purposes of these screening are

• To detect the presence of apparent and non-apparent diseases.

• To provide reproductive information.
• To gain information concerning the incidence of a disorder in the population
TYPE OF GENETIC COUNSELING

Genetic Counseling can prospective or Retrospective :-

1. Prospective:

• This approach may find wider application to cover a no. of recessive defects

• This approach identifies the individuals for any particular defect by screening
e.g.,Sickle cell anemia. Thalassemia, which can be prevented.
2. Retrospective:

This can be done after contraception, pregnancy termination and sterilization.

a) When blood relatives marry each other there is an increased risk in the offspring
oftraits controlled by recessive genes e.g., Albinism. Alkaptonuria Phenylketonuria
So, lowering of consanguineous marriages would be advantageous to the health of
the community.

b) Late Marriages: Genetic defect through trisomy 21, mongolism can be prevented
byearly marriages than late marriage.

i) Protection of individuals and whole community against chemical mutagens.

ii) Protecting people from unnecessary exposure to X-ray by protective aprons.
iii) Detection of genetic carriers, in numerous disorders e.g., Hemophilia,
PKU,Galactosaemia, Actalasia, will help in prevention.

iv) Prenatal diagnosis through amniocentesis (as early as 14 week of pregnancy) for
mothers aged 35 and above (advanced maternal age), for Down‘s syndrome,

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 musculardystrophies will help in early prevention
v) Screening of newborn infants, large list of screening test for early diagnosis of genetic
abnormalities are available viz, Sex chromosome abnormalities. Congenital dislocation
ofhip, PKU, Congenital Hypothyroidism,

vi) Neonatal examination for dislocation of hip so that it can be corrected early screening
for other defects Viz PKU, congenital hypothyroidism, sickle cell anemia, cystic fibrosis
etc. can be carried out. vii) Recognizing Pre-clinical cases viz. Diabetes, Gout, Sickle
cellanemia

viii) Some of the genetic conditions can be corrected if recognized early e.g.,
HemophiliaSpina bifida

ix) The genetic conditions can cause physical or mental disability; much can be done
forthe patients and family through rehabilitation.

APPLICATIONS OF GENETIC COUNSELING

Genetic counselors work with people concerned about the risk of an inherited disease
orcondition. These people represent several different populations.

• Prenatal genetic counseling is provided to couples that have an increased risk of

birthdefects or inherited conditions, and are expecting a child or planning a pregnancy.

• Pediatric genetic counseling is provided to families with children suspected of having

agenetic disorder or with children previously diagnosed with a genetic disorder.

• Adult genetic counseling is provided to adults with clinical features of an

inheriteddisease or a family history of an inherited disease.

• Cancer genetic counseling is provided to those with a strong family history of

certaintypes of cancers.

Prenatal Genetic Counseling:

There are several different reasons a person or couple may seek prenatal genetic
counseling. If a woman is of age 35 or older and pregnant, then there is an increased
chance that her fetus may have a change in the number of chromosomes present. Changes
in chromosome number may lead to mental retardation and birth defects. Down syndrome
is the most common change in chromosome number that occurs proportionally more

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 often in the fetuses of older women. Couples may seek prenatal genetic counseling
because ofabnormal results of screening tests performed during pregnancy

Prenatal tests that are offered during genetic counseling include:-

• Level II ultrasounds.
• Maternal serum AFP screening
• Chorionic villus sampling (CVS)
• Amniocentesis

Level II Ultrasound : is a detailed ultrasound surveying fetal anatomy for birth defects.
Ultrasound is limited to detection of structural changes in anatomy and cannot detect changes
in chromosome number.

The maternal serum AFP screening: is used to indicate if a pregnant woman has a higher or
lower chance of having a child with certain birth defects. This test can only provide
information concerning the probability of a birth defect. The screening cannot diagnose an
actual birth defect.

Chorionic Villous sampling (CVS) : CVS is a way of learning how many chromosomes
arepresent in a fetus. A small piece of a placental tissue is obtained for these studies during
thetenth or twelfth week of pregnancy.

Amniocentesis: is also a way of learning how many chromosomes are present in a fetus.
Amniotic fluid is obtained for these studies, usually between 15 and 20 week of pregnancy.
There is a small risk of miscarriage associated with both of these tests.

Pediatric Genetic Counseling:

Families or pediatricians seek genetic counseling when a child has features of an inherited
condition. Any child who is born with more than one defect, mental retardation or dimorphic
features has an increased chance of having a genetic syndrome. A common type of mental
retardation in males for which genetic testing is available is fragile Syndrome. Genetic
testing is also available for many other childhood illnesses such as hemophilia and muscular
dystrophy.

This process includes

• Examination of family history.

• Medical history of the child.

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• Review of patient medical records in the family.
• A physical examination of the child.
• Sometimes blood work or another diagnostic test.
Adult Genetic Counseling

Adults may seek genetic counseling when a person in the family decided to be tested
for the presence of a known genetic condition, when an adult begins exhibiting symptoms
of an inherited condition, or when there is a new diagnosis of someone with an adult-onset
disorder in the family. In addition, the birth of a child with obvious features of a genetic
disease leads to diagnosis of a parent who is more mildly affected. Genetic counseling for
adults may lead to the consideration of pre symptomatic genetic testing. Testing a person
to determine the likelihood for a condition existing before any symptoms occur in an area
of controversy.

Cancer Genetic Counseling:

A family history of early onset breast, ovarian or colon cancer in multiple generations
of family is a common reason a person would seek a genetic counselor who works with
people who have cancer. While most cancer is not inherited, there are some families in which
a dominant gene is present and causing the disease. A genetic counselor is able to discuss
the chances that the cancer in the family is related to a dominantly inherited gene. The
counselor can also discuss the option of testing for the breast and ovarian cancer genes,
BRCA 1 and BRCA 2. In some cases, the person 300 seeking testing have already had cancer
but others have not. Therefore, pre symptomatic testing is also an issue in cancer genetics.

ETHICAL ISSUES IN GENETIC COUNSELING

Prenatal diagnosis of anomalies or chromosomal abnormalities may lead to a
decisionabout whether or not a couple wished to continue a pregnancy. Some couples choose
to continue a pregnancy. Prenatal diagnosis gives them additional time to emotionally
prepare for the birth of the child and to gather resources. Others choose not to continue a
pregnancy in which problems have been diagnosed. These couples have unique emotional
needs. Often the child is a very much desired addition to the family, and parents are
devastated that the child is not healthy. pre symptomatic testing for adult-onset disorders
and cancer raises difficult issues regarding the need to know and the reality of dealing with
abnormal resultsbefore symptoms occur.

The National Society of Genetic Counsellors

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The national society of genetic counsellors has created a code of ethics to guide genetic
counselors in caring for people. The Code of Ethics consist of four ethical principles

• Beneficences are the promotion of personal well-being in others. The genetic counselor
isan advocate for the person being counseled.

• Non-maleficence is the concept of doing no harm to a person.

• Autonomy is recognizing the value of an individual, the person‘s abilities and point of
view. Important aspects of autonomy are truthfulness with persons, respecting
confidentialityand practicing informed consent.

• Justice is providing equal care for all, freedom of choice, and providing a high quality
ofcare.

The main ethical principle of genetic counseling is the attempt to provide nondirective
counseling. This principle again points to an individual-centered approach to care by
focusingon the thoughts and feelings of each person.

Psychosocial issues associated with medical problems or pre-existing Issues may be

either exacerbated or alleviated by testing. The provider should discuss these Issues with
children and parents. The presence or severe anxiety or other psychopathology should be an
indicationfor further psychological intervention and not necessarily an indication for genetic
testing.

ADVANTAGES OF GENETIC COUNSELLING

Reduction of uncertainty.
A significant a. psychological benefit of genetic testing is resolution of uncertainty.

Data from adults at risk for Huntington disease confirmed a reduction of anxiety, both in
persons determined by linkage analysis not to be at risk and in those found to be at increased
risk, while the least reduction of anxiety occurred in those who had indeterminate test results.
Even for individuals identified as having a life-shortening disease, testing may lead to
appropriate adjustment and preparation. Both parents and children may be anxious about
their uncertain future. Genetic testing, even if confirming the presence of disease, may
remove the uncertainty and allow parents the opportunity to confront the issues directly.
When test results are favorable, psychological benefits may accrue to both parents and
children.

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Alteration of self-image
Children with genetic diseases may suffer a loss of self-esteem during a critical period
when children's self-identity is developing. Children's understanding of illness and disease
is often limited and may foster self-blame for their disease. If a child's genetic information is
disclosed outside the family, the ensuing loss of privacy may exacerbate poor self-esteem.
Alternatively, in some instances, an affected child may view the disease state as being normal
and may even develop positive attitudes of identification with the affected family member.
Those individuals whose tests reveal that they are not at genetic risk may develop ""survivor
guilt," based on the knowledge that one or more of their siblings will develop and perhaps
diefrom a serious genetic discase. For a child who 1S at risk of "not carrying recessive genes,
the status of "not knowing" may allow the child to assume that he or she is a carrier and to
share some of the burden. tor some children. whose assumption of carrier status provides an
important source of self-1dentity. the knowledge of being a non-carrier could generate a
shiftin such identity. Further, the fact that siblings may make unfounded assumptions about
their genetic status emphasizes the need for thorough age-appropriate genetic counselling,
regardless of a decision to provide a genetic test during childhood.

Impact on family relationship

Pre symptomatize diagnosis in children also has the potential to alter the
relationships that exist between parents and their offspring and among siblings. A child
known to have a deleterious gene may be overindulged, rejected, or treated as a scapegoat.
The vulnerable child" syndrome occurs when the perception of serious illness causes
parents to become overprotective and to restrict a child's participation in childhood
activities responses that can occur even when test result reveal a normal genotype
Unaffected siblings may also experience altered relationships with their parents,
particularly in the case of children who feel disenfranchised if they see that an affected
sibling is receiving a disproportionate children who feel disenfranchised if they see that an
affected sibling is receiving a disproportionate of children who feel disenfranchised if they
see that an affected sibling is receiving a dipropionate amount of care and attention Testing
a child for an adult-onset disease may inadvertently provide predictive information to other
family members, who maynot be interested in this information. However, identifying a
child with a genetic disease or agene predisposing to disease could benefit relatives who
may wish to consider testing for themselves. Although the provider might presume an
obligation to inform other family members at risk, some patients may prefer not to inform

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other family members. Current recommendations and practices suggest that the patient's
wishes for confidentiality should be respected as long as the failure to disclose genetic
information is not likely to result in immediate serious physical harm to the relative.

Impact on life planning

Information about future health can have implications for planning one's life. The
possibility of serious disease or early death may influence an individual's educational goals,
occupational choices, and specific career plans. This information also may influence choice
of domicile, perhaps to live closer to family, to other support systems, or to adequate medical
facilities. Genetic test results may have financial implications for retirement planning and for
obtaining life, disability, and health insurance. Individuals at risk for developing a disease or
for transmitting a deleterious gene to their children may be stigmatized and subject to
inappropriate discrimination. Expectations of others for education, social relationships,
and/or employment may be significantly altered when a child is found to carry a gene
associated with a late-onset disease or susceptibility. Such individuals may not be encouraged
to reach their full potential, or they may have difficulty obtaining education or employment
if their riskfor early death or disability is revealed. Pre-symptomatic diagnosis may preclude
insurance coverage or may thwart long- term goals such as advanced education or home
ownership.
Finally, this information could be used to assess the suitability of both parents and children
inquestions of adoption.

Preparation
Person should be apprised of possible outcomes and given the opportunity to discuss
their feelings prior to undergoing genetic tests. There is a burden associated with knowing
theprobability of a future outcome. Difficult decisions may be required as a result of learning
genetic information through testing. The process of adequately preparing an individual for
genetic counseling is called informed consent. Ethical genetic counselors always obtain
informed consent prior to undertaking any genetic tests.

AFTERCARE OF GENETIC COUNSELLING

Persons must be provided access to competent counselors and therapists. Such
professionals can assist in processing the feelings and reactions that may emerge as a result of
receiving the findings of genetic tests.

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COMPLICATIONS OF GENETIC COUNSELLING
The complications that arise from the process of genetic counseling are most
commonly mental and emotional. Individuals and couples who have received genetic
counseling of experience mental changes such as depression and anguish when they
receiveunfavorable results about tests. Complication includes the need to make difficult
decisions regarding themselves, their families, or their unborn children. This is also
referred but unwanted outcomes may become known before they occur. Depending on the
condition personal preferences and situation, persons may elect to continue with a
pregnancy that is likely to result in a child with one or more abnormalities terminate a
pregnancy, select a different partner, or decided not to have children. These are all difficult
situations that may require the assistance and interventions of a trained mental health
counselor or therapist.

RESULTS AFTER GENETIC COUNSELLING

The results given to a person during genetic counseling are highly individualized
anddepend on the nature of tests being performed and the issues of importance to the person
being counseled. The results of the process of genetic counseling vary. Genetic Counseling
offers information to people, thereby allowing them to make informed choices. Some of the
options may not be easy or pleasant to contemplate. However, they are based on hard data
rather than on wishes, hopes, and some other non-scientific basis. Genetic Counselors have
an ethical duty to obtain informed consent from individuals prior to beginning genetic
counseling, provide unbiased information and the ability to interact in a nonjudgmental or
coercive manner.

HEALTH CARE TEAM ROLES

Genetic Counselors are specially trained members of health care team who have
a master‘s degree in genetic counseling. They receive referrals from obstetricians,
pediatricians, family physicians, and other doctors. They interpret the results of tests from
laboratory personnel, medical geneticists, pathologists. They refer people to therapists
and counselors for assistance in resolving issues that arise from the process of genetic
counselling

ROLE OF NURSE IN GENETIC COUNSELING

1. Recognize or suspect genetic disorders by their physical characteristics and
clinicalmanifestations.

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2. Create a genetic pedigree (diagram of the family history), including cause of death and
anygenetically linked ailment. Explain those aspects of diagnosis, prognosis and treatment
that affect the patient and his family. Relate information that parents affected or at-risk
individualsand caregivers need to know to plan for the care of the patient and his family.

3. Clear-up misconceptions and allay feelings of guilt.

4. Assist with the diagnostic process by exploring medical and family history information,
byusing physical assessment skills, by obtaining blood sample, or by assisting with other
meansof sample collection, as indicated.

5. Enhance and reinforce self-image and self-worth of parents, child or the individual at
riskfor the presenting with a genetic condition.

6. Encourage interaction with family and friends, offer referrals, phone numbers of
supportgroup.

7. Refer and prepare family for genetic counselling

a. Inform that the prenatal testing does not mean termination of pregnancy e.g. It may
confirm that the fetus is not affected, thus eliminating worry throughout pregnancy,
althoughthe determination of an abnormality is also a possibility.

b. Encourage parents and patients to allow adequate time to deliberate on a course of action.

E.g., they should not rush into a test without full knowledge of what the result can and
cannot tell, nor should they rush to make future reproductive decisions such as tubal
ligation becausein a few years they may want more children.

c. Remain non-judgmental.
8. Check with the Govt. Policy for information and resources regarding neonate
testingrequired, state regulations on genetic testing and research.

9. Recognize that there are many ethical, legal, Psychosocial and professional
issues associated with obtaining, using and sorting genetic information.
10. Be aware of associated professional responsibilities, including informed consent,
documentation in medical records, medical releases and individual privacy of
information.

APPLICATIONS OF GENETICS IN NURSING

Genetics is affecting all of health care, including nursing. The way in which nurse‘s

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think about planning health care must be seen how now through a ―genetic eye‖ or lens,
andnurses must learn to ―think genetically‖. While efforts to integrate genetics into nursing
began in earnest in the early 1980s, this effort did not accelerate until the mid-1990s. Before
nursing can fully incorporate genetic knowledge into education and practice in a meaningful
way, the way in which genetics will influence health care must be understood.

Today genetic approaches are used to diagnose disease, provide information about
thecourse of disease and confirm the existence of disease in asymptomatic individuals. It is
now evident that inherited predisposition is important in a number of common disease of
later life, such as; coronary heart disease, hypertension, diabetes mellitus, and some
rheumatic, cancer and mental illnesses. This has led to increased use of genetic testing.
Genetic tests are used toassess risk in pre symptomatic individuals with a family history of
the disorder, and to provide information that assists in effective disease management.
Regular colonoscopy and cervical screening, for instance, could prevent thousands of deaths
each year.

Genetic Knowledge offers new opportunities to detect, prevent and treat disease,
butthere is a potential for harm and complex ethical, legal and social implications surround
theuse of genetic approaches in health care.

Nursing practice in genetics-related health care blends the principles of human

genetics with nursing care in collaboration with other professional, including genetics
specialists, to foster health improvement, maintenance, and restoration. In any
practicesetting, nurses will carry out five main activities in genetics-related nursing
practice.

1. Help collect and interpret relevant family and medical histories.

2. Identify patients and families who need further genetic evaluation and counseling and
referthem to appropriate genetics services.

3. Offer genetics information and resources to patients and families.

4. Collaborate with genetics specialists and
5. Participate in the management and coordination of care of patients with genetic conditions.
Genetics-related nursing practice includes the care of clients who have genetics conditions,
persons who may be predisposed to develop or pass on genetic conditions, and persons
whoare seeking genetics information and referral for additional genetics services.

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 RESEARCH ARTICLE
Genetic counselling in ALS: facts, uncertainties and clinical suggestions
Abstract

The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been
largely modified by the identification of novel genes, the detection of gene mutations in
apparently sporadic patients, and the discovery of the strict genetic and clinical relation
between ALS and frontotemporal dementia (FTD). As a consequence, clinicians are
increasingly facing the dilemma on how to handle genetic counselling and testing both for
ALS patients and their relatives. On the basis of existing literature on genetics of ALS and of
other late-onset life- threatening disorders, we propose clinical suggestions to enable
neurologists to provide optimal clinical and genetic counselling to patients and families.
Genetic testing should be offered to ALS patients who have a first-degree or second-degree
relative with ALS, FTD or both, and should be discussed with, but not offered to, all other
ALS patients, with special emphasis on its major uncertainties. Presently, genetic testing
should not be proposed to asymptomatic at-risk subjects, unless they request it or are enrolled
in research programmers. Genetic counselling in ALS should take into account the
uncertainties about the pathogenicityand penetrance of some genetic mutations; the possible
presence of mutations of different genes in the same individual; the poor
genotypic/phenotypic correlation in most ALS genes; and the phenotypic pleiotropy of some
genes. Though psychological, social and ethical implications of genetic testing are still
relatively unexplored in ALS, we recommend multidisciplinary counselling that addresses all
relevant issues, including disclosure of tests results to family members and the risk for genetic
discrimination.
CONCLUSION
Nursing practice in genetics-related health care blends the principles of human genetics with
nursing care in collaboration with other professionals, including genetics specialists, to foster
health improvement, maintenance, and restoration. In any practice set-ting, nurses will carry
out five main activities in genetics-related nursing practice: help collect and interpret relevant
family and medical histories; identify patients and families who need further genetic
evaluation and counseling and refer them to appropriate genetics services; offer genetics
information and resources to patients and families; collaborate with genetics specialists; and
participate in the management and coordination of care of patients with genetic conditions.
Genetics-related nursing practice includes the care of patients who have genetics conditions,

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persons who may be predisposed to develop or pass on genetic conditions, and persons who
are seeking genetics information and referral for additional genetics services

REFERENCE
• Lewis, Dirksen et.all, textbook of medical surgical nursing 8th edition (2011),
Elsevier publications, India (206-210)
• Monahan, Sands, Neighbors, Marek et.all, Phipps text book of medical surgical
nursing, 8th ed (2009) Elsevier India (71-80)
• Priscilla T Le Mone, Karen. M Burke, textbook of medical surgical nursing 6th
edition (2018) Pearson India (136-140)
• Shebeer. P. Basheer, S. Yaseen khan, a concise textbook of advanced nursing
practice, 2ndedition (2018)

Research article

Chiò A, Battistini S, Calvo A, Caponnetto C, et.all. Genetic counselling in ALS: facts,

uncertainties and clinical suggestions. Journal of Neurosurgery Psychiatry. 2014
May;85(5):478-85. Doi: 10.1136/jnnp-2013-305546. Epub 2013 Jul 6. PMID: 23833266.

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