INTRODUCTION:

In response to the increasing knowledge of the role of genetics in health and disease, Reed
proposed the term “genetic counseling” in 1947.
Originally genetic counseling was based largely on family histories, and consisted of
estimating and explaining the risk of occurrences and recurrences of a trait or disease. Today
advances in knowledge and techniques have expanded the scope of information and allowed
great precision and viable alternate treatments and options.

DEFINITIONS:
Genetics:
Genetics is defined as a branch of medical science sciences which concerned with the
transmission of characteristics from parents to offspring.
Inheritance:
The passing of familial elements from one generation to the next is called inheritance.
Counseling:
A process in which the counselor assists the counselee to make interpretations of facts relating to
a choice, plan or adjustments which he needs to make.
Genetic Counseling:
Genetic counseling as a communication process, which deals with human problems associated
with the occurrence or the risk of occurrence of a genetic disorder in a family.
- The American Society of Human Genetics

AIMS OF GENETIC COUNSELING:

The genetic counseling aims to provide the family with complete and accurate information about
genetic disorders to help the individual or family
- Comprehend medical facts including the diagnosis, the probable course of the disorder
and the available treatment options.
- Elaborate the way hereditary contributes to the disorder, and the risk of reccurence in
specified relatives
- Understand the options for dealing with the reccurence
- Choose the course of action which seems appropriate to them in view of their risk and
their family goals and act in accordance with that decision.
- Make the best possible adjustment to the disorder in an affected family member and/or
to the risk of reccurence of that disorder.

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PURPOSE:
1. Provide concrete, accurate information about inherited disorders.
2. Reassure people who are concerned that their child may inherit a particular disorder that
the disorder will not occur.
3. Allow people who are affected by inherited disease to make informed choice about future
reproduction.
4. Educate people about inherited disorder and the process of inheritance.
5. Offer support by skilled health care professionals to people who are affected by genetic
disorders.

PRINCIPLES:
1. It is a therapeutic measure
2. It includes the establishment of accurate diagnosis, treatment of the affected
individual as well as the prevention of the occurrence of genetic disorder.
3. It requires special aptitude for the communication
4. It must be non-directive
5. Follow up session is always desirable.

INDICATIONS:
1. Hereditary disease in the family
2. Birth defects
3. Mental retardation
4. Advanced maternal age
5. Early onset of cancer in the family
6. Miscarriages
7. malformations

INFORMATION CONVEYED IN GENETIC COUNSELING:

1. Magnitude of risk of occurrence or recurrence
2. Impact of disease on patient and family
3. Modification of disease impact or risk
4. Anticipated future development 

WHO ARE GENETIC COUNSELORS? 

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 - Genetic counselors are health professionals with specialized graduate degrees and
experience in the areas of medical genetic and counseling.
- Most enter the field from a variety of disciplines including biology, genetics, nursing,
psychology, public health and social work.

ROLE OF GENETIC COUNSELOR:

1. Helping people understand information about birth defects or genetic disorders. These
includes explaining patterns of inheritance, reccurence risks, history of disease and genetic
testing options.
2. Providing non-directive supporting counselling regarding issues related to a diagnosis or
testing options.
3. Helping individuals and families make decisions with which they are comfortable, based on
their personal ethical and religious standards,
4. Connecting individuals and families with appropriate resources, such as support groups or
specific types of medical clinics locally and nationally.

COMMON COUNSELING THEORIES:

 Client centred (Carl Rogers)
 Holistic health (Biopsychosocial)
 Strength based (Positive thinking/Learned optimism)
 Cognitive behavioral (ABC model)
 Solution focused (Where do I really want to be?)
 Existential (Why am I here?)

Client centred (Rogerian) counseling:

- Here the counselor provides the growth-promoting climate and the client is then free and
able to discover and grow as he/she wants and need to be.
- The prevailing characteristics of the session are active listening, empathy, acceptance
(unconditional positive regard) and genuineness.
Holistic Health (Biopsychosocial):
- It asserts that we have physical, intellectual, social, emotional, vocational and spiritual
needs. The neglect of which reduces the ability of one to withstand the effects of stress.
- We live in socioeconomic conditions that can enhance or demean our long-term well-being.
Strength based counseling:
- Focuses on what is going right in a person’s life
- The counselor and client work together to find the past and present successes and use these
to address the current and future challenges.
- Learned optimism is about learning a positive perspective, focusing on what can go right.

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Cognitive behavioral Therapy:
- Can be described as “as I think, so I feel (and do)!
- In any situation individuals have
 Activating event: The actual event and the client’s immediate interpretation of the
event
 Beliefs about the event: this can be rational or irrational
 Consequences: ‘how you feel’ and ‘what you do’ or other thoughts.

Solution focused therapy (Where do I want to be?):

- Focuses on what clients want to achieve through the therapy rather than on the problem that
made them seek help.
- The approach does not focus on the past, but instead, focuses on the present and future.
- The client is asked to envision on how the future will be different when the problem is no
longer present.
The existential approach (Why am I here?):
- Also known as “meaning therapy”
- As Victor Frankyl put it, “He who knows the ‘why’ of his existences will be able to bear
almost any ‘how’ therapy is concerned with creating one’s identity and establishing
meaningful relationships with others.

COMPONENTS OF GENETIC COUNSELLING:

The reason for counseling and the counseling process varies, but some components remain
common. The geneticist does not always know what additional information is needed until after
the assessment process, the interview and the histories are completed.
The components of genetic counseling are: -
1. Initial interview
2. Obtaining history and preparing a Pedigree
3. Establishing a diagnosis
4. Risk assessment
5. Discussion of options
6. Communication and support

1. Initial interview:
Some services mail a family history questionnaire and wait for its return before scheduling an
appointment, whereas others collect the information at the first interview. The initial interview is
often conducted by the nurse. During the interview, one can
 Obtain an initial appraisal of family interactions and dynamics

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  Get the reason they are seeking counseling
 Elicit preliminary concerns
 Find out their expectations of genetic counseling
 Discuss the usual elements and procedures involved
 Ascertain the counsels’ educational background
 Orient them to the clinic if appropriate.
These steps are important because the clients often think that they need services. Those feeling
this way often express dissatisfaction with the entire process.

2. Obtaining history and preparing a Pedigree:

 Family history gives the counselor a chance to observe the family interactions and to
provide clues for effective approaches when discussing risks and options
 Both the members of the couples must be present during history collection to
provide precise information about both sides of the family.
 Questions must be specifically tailored for the individuals and must result in the
preparation of a pedigree
 The pedigree may be helpful in determining the mode of transmission operating in a
given family even in the absence of a positive diagnosis that can allow the basis for
counseling.

3. Establishing a diagnosis:
 Diagnosis should be confirmed where possible, the geneticist must recommend
appropriate testing to make a diagnosis when it is not yet made.
 Carrier status must also be established if relevant and possible. If the syndrome is
unknown then the referral to a specialist may be indicated.
 In case definite diagnosis cannot be made, and history and pedigree clearly reveal the
mode of inheritance operating in the family then counseling can proceed on that basis.

4. Risk assessment:
Recurrence risk must be quantified, qualified and placed in context

a) Quantification – the numerical value of a risk

Most perspective parents will be familiar to some degree with the concept of risk, but
not everyone is comfortable with probability theory and the alternative ways of
expressing risk, such as in the form of odds or as a percentage. Thus, e.g., a risk of 1 in
4 can be presented as an odds ratio of 3 to 1 against or numerically 25%. Consistency
and clarity are important if confusion is to be avoided. It is also essential to emphasize
that a risk applies to each pregnancy and chance does not have a memory. For
example, the fact that parents have just had a child with an autosomal recessive
disorder does not mean that their next three children will be unaffected. A useful
analogy is of the tossed coin that cannot be expected to remember whether it landed
heads or tails at the last throw and cannot therefore be expected to know what it should
do at the next throw.

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 b) Qualification – the nature of a risk
Several studies have indicated that the factors that most influences parents when
deciding whether or not to have another child is the nature of the long-term burden, or
severity, associated with the risk rather than it is a precise numerical value. Therefor a
high risk of 1 in 2 for a trivial problem such as an extra digit will deter very few
parents. In contrast low risk of 1 in 25 for a disabling condition such as a neural tube
defect can have a very significant deterrent effect. A woman who grew up watching
her brother develop Duchene muscular dystrophy and subsequently die from the
condition aged 21 years, may not risk having children even if there is only 1% chance
that she is a carrier. Other factors, such as whether a condition can be treated
successfully, whether it is associated with pain and suffering, and whether prenatal
diagnosis is available, will all be relevant to the decision-making process.

c) Placing the risk in context

Prospective parents seen at genetic counseling clinic should be provided with
information that enables them to put their risks in context so as to be able to decide for
themselves whether a risk is high or low. For example, it can be helpful to point out
that approximately 1 in 50, although initially alarming, might on reflection be
perceived as relatively low. As an arbitrary guide, risk of 1 in 10 or greater tend to be
regarded as high, 1 in 20 or less as low, and intermediate values as moderate.

5. Discussion of options:
Having established the diagnosis and discussed the risk of occurrence/recurrence, the
counselor is then obliged to ensure that the counselee is provided with all the information for
them to make their own informed decisions. This should include details of all the choices open
to them. For example, if relevant, the availability of prenatal diagnosis should be discussed,
together with all details of the techniques, limitations and risks associated with the various
methods employed. Some other reproductive options can be discussed. These can include
alternative approaches to conception, such as artificial insemination using donor sperm (AID),
the use of donor ova and preimplantation genetic diagnosis. These techniques can be used
when one partner is infertile or simply to bypass the possibility that the other partner will
transmit his or her disadvantageous gene to the baby.
These are the issues that should be broached with great care and sensitivity. For some
couples, the prospect of prenatal diagnosis followed by selective termination of pregnancy is
unacceptable, whereas others view this as their only means of ensuring that any children they
do have will be healthy. Whatever the personal views of the counselor, the consultants are
entitled to the knowledge of prenatal diagnostic procedures that are technically feasible and
legally permissible.

6. Communication and support:

The ability to communicate is essential in genetic counseling. Communication is a two-
way process. Not only does the counselor provide information, he/she also has to be
receptive to the fears and aspirations, expressed or unexpressed, of the consultant. A to

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 listen is the key attribute for anyone involved in genetic counseling, as is an ability to
present information in a clear, sympathetic and appropriate manner.
Often an individual or a couple will be extremely upset when first made aware of a
genetic diagnosis, and it is very common for guilt feelings to set in the individual or couple.
They may look back and scrutinize every event happening, foe example, during a
pregnancy. The delivery of potentially distressing information cannot be carried out in
isolation. Genetic counselors need to take into account the complex psychological and
emotional factors that can influence the counseling dialogue. The setting should be
agreeable, private and quiet, with ample time for discussion and questions. When possible,
technical terms should be avoided, or if used, these should be fully explained. Questions
should be answered openly and honestly and if information is lacking, it is certainly not a
fault or sign of weakness to admit that this is so. Most couples respect and recognize the
truth and some parents of children, whose condition cannot be diagnosed, derive a curious
pleasure from knowing that their child appears to be unique and has bamboozled the medical
profession.
Despite all these measures, a counseling session can be so intense and intimidating that
the amount and accuracy of information retained on follow-up at a later date can be very
limited. For this reason, a letter summarizing the topics discussed at a counseling session is
usually sent to the family afterwards. In addition, they are sometimes contacted at a later
date by a member of the counseling team, mostly by telephone but sometimes by a home
visit, thereby providing an opportunity for clarification of any confusing issues and for
further questions to be answered.
It would be wrong to convey information of a distressing nature without offering an
opportunity for further discussion and long-term support. Most genetic counseling centers
maintain informal contact with relevant families through a network of genetic work
counselors, who are familiar with the family and their particular circumstances. This is
especially valuable for the prospective parents who subsequently request specific prenatal
diagnostic investigations and for presymptomatic adults who are shown to be at high risk of
developing late onset autosomal dominant disorders such as Alzheimer’s disease and
Huntington’s disease. Genetic registers provide useful means of ensuring that effective
contact can be maintained with all such relevant family members.
Patient Support Groups:
Finally, the counselee should be informed about the support group. When confronted by a
new diagnosis of a rare disorder, many families feel isolated. If at all possible, they should
be given information, so that they have the option of communicating with the other affected
families who have had similar experiences.

STEPS OF GENETIC COUNSELING

1. Diagnosis:
To complete an accurate diagnosis the following procedure should be followed:
 History: A proper record of the history of the patient is necessary. This includes

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 - Both present and relevant past history
- Family history includes siblings and other relatives also.
- 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 in
autosomal recessive disorders.

 Pedigree Charting:  Pedigrees are family trees which show the parents and offspring across
generations, as well as who possessed particular traits. Pedigrees of individual families are
used by genetic counselors, to aid them in providing information to families who may be at
risk for various genetic conditions. If forms an indispensable step towards counseling 

2. Estimating risk: It forms one of the most important aspects of genetic counseling. It is often
called recurrence risk. To estimate it one requires to take into account following points
- Mode of inheritance
- Analysis of pedigree or family tree
- Results of various tests

3. 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 such as
- 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.

4. Management:
In genetics, “Treatment” implies a very limited scope. It naturally aims for prevention 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 irreversible
damage. For example in PKU, i.e., phenylketonuria. This disorder is characterized by a
deficiency of phenylalanine hydroxylase enzyme, which is necessary for the conversion of
phenylalanine to tyrosine.
PKU, if not detected early may lead to mental retardation owing to the involvement of the
nervous system at a later stage. The ideal situation would be an early detection of the disease
followed by preventive measures, like giving the patient a diet free from phenylalanine and,
thus, preventing damage to the nervous system.
In some other situations, the defective gene proves to be so in certain environment. This
implies that the change in the environment shall mitigate gene expression. Here also an ideal
way would be to replace the defective gene by a normal one, but this is left for the future and
may be, in years to come, such replacements may become a reality.

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FOLLOW-UP IN GENETICS CLINIC:
Follow-up is essential in all the branches under the faculty of medicine. It is important for the
patient’s, attending genetic clinics. So, it is desirable to arrange more follow-up interviews. This will
make sure that the consultants understand and remember the information based on them.
In some families with genetic disorders repeated follow-up visits to the genetics clinic become
essential. These visits are aimed at preventing the disease in any other family members by
reproductive planning. Prenatal diagnosis should be done followed by termination of pregnancy, if
necessary.
For the families with genetic disorders, acceptance of the disease, treatment, if possible and
counseling towards a more palatable way to lead life may be suggested. For example: Take a family
with Down’s syndrome. The couple should first accept this defect in their child. They should then be
made aware of and referred to a school for the mentally retarded children, where the child can be
trained properly. Simultaneously, the couple can be informed about the possibilities of prenatal
detection of this disorder as well as carrier detection in parents. This will prevent another Down’s
baby in the family.

TYPES OF GENETIC COUNSELLING:

1. Prospective:
 This allows for the prevention of disease.
 This approach requires:
- Identifying heterozygous individuals for any particular defect by screening.
- Explaining to them the risk of their having affected children if they marry another
heterozygote for the same gene.
- If heterozygous marriage can be prevented or reduced, the prospects of giving birth
to affected children will diminish. Eg: Sickle cell anemia Thalassemia

2. Retrospective:
 This can be done after contraception, pregnancy termination and sterilization.
 Most genetic counseling at present is retrospective i.e., the hereditary disorder has
already occurred within the family. Ex: Mental retardation Inborn errors of metabolism
Psychiatric illness.
 The method which could be suggested under retrospective genetic counselling:
- Contraception
- Pregnancy termination
- Sterilization

INDICATIONS FOR REFERENCE TO A GENETIC SPECIALIST:

1. Family history:

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 - One or more members with mental retardation, developmental disability, an inherited
disorder, or a birth defect.
- One or more members with early deaths due to known or unknown medical conditions
- One or more members with adult-onset health conditions such as cardiovascular
disease, dementia, or cancer.

2. Delayed growth and development:

- Those who have or are concerned that their child has developmental delays that may
be due to an inherited disorder or birth defect.

3. Reproductive issues:
- Women who have experienced multiple pregnancy losses or babies who died in
infancy.
- People concerned that their jobs, lifestyles or medical history may pose a risk to the
outcome of a pregnancy. Common causes of concern include exposure to radiations,
medications, illegal drugs, chemicals or infections.
- Couples who are first cousins or other close blood relatives.
- Women who are pregnant at the age of 35 or older.

ROLE OF A NURSE IN GENETIC COUNSELING

1. Guiding a woman or couple through prenatal diagnosis.
2. Helping parents make decision in regard to abnormal prenatal diagnostic results.
3. Assisting parents who have had a child with a birth defect to locate needed service and
support.
4. Providing support to help the family deal with the emotional impact of a birth defect.
5. Coordinative services of other professionals, such as social workers, physical and
occupational therapist, psychologist & dietician.

GENETIC COUNSELLING TODAY:

 Genetic counselors fill a distinctive position in the complicated and varied arena of genomic
medicine and health.
 Advances in genetic medicine create an even greater demand for expert health care services.
 Genetic counselors help meet this need, serving in almost every major medical center and
across the globe as an increasingly important resource for medical referral and quality
patient care.

APPLICATIONS OF GENETIC COUNSELING

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Genetic counselors work with people concerned about the risk of an inherited disease or condition.
These people represent several different populations.
- Prenatal Genetic Counseling
- Paediatric Genetic Counseling 
- Adult Genetic Counseling
- Cancer Genetic Counseling

1. Prenatal genetic counselling

- 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

2. Paediatric genetic counseling

Families or paediatricians 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 dysmorphic
features has an increased chance of having a genetic syndrome. A common type of mental
retardation in males for which genetic testing is fragile X-syndrome. Genetic testing is also
available for many other childhood illnesses, such as haemophilia and muscular dystrophy.
Genetic counselors work with medical geneticists to determine if a genetic syndrome is present.

This process includes a careful

- Examination of family history
- Medical history of the child
- Review of patient’s medical records in the family
- A physical examination of the child
- Sometimes blood examinations or other diagnostic tests.

If diagnosis is made, then a medical geneticist and a genetic counselor review what is known
about the inheritance of the condition, the natural history of the condition, treatment options,
further examinations that may be needed for health problems common in diagnosed syndrome
and resources for helping the family.
The genetic counselor also helps the family adjust to the diagnosis by providing emotional
support and counseling. Many families are devastated by receiving a diagnosis, learning of the
likely outcome for the child and by the loss of the hope for a healthy child. There would also be
a discussion about recurrence risks in the family and who else in the family may be at risk.

3. Adult genetic counseling

Adults may seek genetic counseling when a person in the family decides 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

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 consideration of presymptomatic genetic testing – testing a person to determine the likelihood
for a condition existing before any symptoms occurs in an area of controversy.
Huntington’s disease is an example of genetic disease for which presymptomatic testing is
available. It is a neurological disease resulting in dementia. Onset of the disease is between 30
and 50 years of age. Huntington disease is an autosomal dominant pattern. If a person has a
parent with the disease, the risk of being affected is50%. Would presymptomatic testing relieve
or create anxiety? Would a person benefit from the removal of doubt about being affected?
Would knowing about the conditions help a person with life planning? Genetic counselors help
people sort through their feelings about such testing and whether or not the results would be
helpful to them.

4. 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. In some cases, the
person seeking testing has already had cancer but others have not. Therefore, presymptomatic
testing is also an issue in cancer genetics. Emotional support is important for these people, as
they have often lost close relatives from cancer and are fearful of their own risks. For families in
which dominant form of cancer is detected through genetic testing, a plan can be made for
increased surveillance of disease symptoms.

APPLICATIONS OF GENETICS IN NURSING

Genetics is affecting the entire healthcare, including nursing. The way in which nurses think about
planning healthcare must be seen through a ‘genetic eye’ or lens, nurse must learn to ‘think
genetically’. Efforts to integrate genetics into nursing began in early 1980’s, and it did not accelerate
till mid 90’s. Before nursing can fully incorporate genetic knowledge into education and practice in a
meaningful way, the way in which genetics will influence healthcare must be understood.
Today genetic approaches are used to diagnose disease, provide information about the course of
disease and confirm the evidence of disease in asymptomatic individuals. It is now evident that
inherited predisposition is important in a number of common diseases of later life, such a; 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 to assess risk in presymptomatic
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.
Genetic knowledge offers new opportunities to detect, prevent and treat disease, but there is a
potential for harm and complex ethical, legal and social implications surrounding the use of genetic
approaches in health care.

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Nursing practice in genetics-related healthcare blends the principles of human genetics with nursing
care in collaboration with other professional, including genetics specialists, to foster health
improvements, maintenance and restoration.

ROLE OF A NURSE IN GENETIC COUNSELING

i. Help collect and interpret relevant family and medical histories
ii. Identify patients and families who need further genetic evaluation and counselling and refer
them to appropriate genetics services
iii. Offer genetics information and resources to the patients and families
iv. Collaborate with genetics specialists
v. 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 who are seeking
genetics information and referral for additional genetics services

ETHICAL ISSUES IN GENETIC COUNSELING:

Prenatal diagnosis of anomalies or chromosomal abnormalities may lead to a decision about
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 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. Presymptomatic testing for adult
-onset disorders and cancer raises difficult issues regarding the need to know and the reality of
dealing with abnormal results before symptoms occur.
The National Society of Genetic Counselors has created a Code of ethics to guide genetic
counselors in caring for people.
Ethical Principles of the Code of Ethics:
1. Beneficence is the promotion of personal well-being in others. The genetic counselor is an
advocate for the person being counselled.
2. Non-maleficence is the concept of doing no harm to a person.
3. Autonomy is recognizing the value of an individual, the person’s abilities and points of
view. Important aspects of autonomy are truthfulness with persons, respecting
confidentiality and practicing informed consent.
4. Justice is providing equal care for all, freedom of choice, and providing a high-quality care.
5. Nondirective counseling: The main ethical principal of genetic counseling is the attempt to
provide nondirective counseling. The principle again points to an individual-centered
approach to care by focusing on the thoughts and feelings of each person. Genetic
counselors can help people navigate through the unfamiliar territory of genetic testing.
Preparation:
A person should be apprised of possible outcomes and given the opportunity to discuss their feelings
to undergoing genetic tests. There is a burden associated with knowing the probability of a future

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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 information prior to undertaking genetic tests.
Aftercare:
People 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.
Complications:
The complications that arise from the process of genetic counseling are most commonly mental and
emotional. Individuals and couples who have received genetic counseling, experience mental
changes, such as depression and anguish when they receive unfavourable results about the tests.
Complications include 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 situations, 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 decide not to have children. These are all difficult situations
that may require the assistance and interventions of trained mental health counselor or therapist.
Results:
The results given to a person during genetic counseling are highly individualized and depend on the
nature of tests being performed and the issues of importance to the person being counselled.
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-specific bases. 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 non-judgemental or coercive manner.

PSYCHOLOGICAL ASPECTS OF GENETIC COUNSELING

It requires time and understanding to deal with the emotional tension and the anxiety generated in the
families who are faced with the prospect of a genetic disorder. Families may also encounter ethical or
moral dilemmas regarding genetic evaluation and testing options.
Nurses play an important role in genetic counseling. It is important to stress that there is nothing
shameful about an inheritance of congenital defect and to emphasize only on an appropriate remedy.
A vital part of the nurse’s role in genetic counseling is that of a sympathetic and supportive listener.

CONCLUSION
Genetic Counseling enables couples / affected individual to make decision about a future pregnancy.
It helps the affected individual to educate and cope with the disorders with minimal clinical problem.

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Therefore, Genetic Counseling is done in an objective manner, so that any treatment selected remains
the personal choice of the individual involved. Hence thorough knowledge of the disease for giving
information regarding the cause and risk factors of the disease is necessary before counseling.

JOURNAL ABSTRACT
Ethics in genetic counselling
Clarke, Angus & Wallgren-Pettersson, Carina. (2019). Ethics in genetic counselling. Journal of
Community Genetics. 10. 10.1007/s12687-018-0371-7.
Abstract
Difficult ethical issues arise for patients and professionals in medical genetics, and often relate to the
patient’s family or their social context. Tackling these issues requires sensitivity to nuances of
communication and a commitment to clarity and consistency. It also benefits from an awareness of
different approaches to ethical theory. Many of the ethical problems encountered in genetics relate to
tensions between the wishes or interests of different people, sometimes even people who do not (yet)
exist or exist as embryos, either in an established pregnancy or in vitro. Concern for the long-term
welfare of a child or young person, or possible future children, or for other members of the family,
may lead to tensions felt by the patient (client)in genetic counselling. Differences in perspective may
also arise between the patient and professional when the latter recommends disclosure of information
to relatives and the patient finds that too difficult, or when the professional considers the genetic
testing of a child, sought by parents, to be inappropriate. The expectations of a patient’s community
may also lead to the differences in perspective between patient and counsellor. Recent developments
of genetic technology permit genome-wide investigations. These have generated additional and more
complex data that amplify and exacerbate some pre-existing ethical problems, including those
presented by incidental (additional sought and secondary) findings and the recognition of variants
currently of uncertain significance, so that reports of genomic investigations may often be
provisional rather than definitive. Experience is being gained with these problems but substantial
challenges are likely to persist in the long term.

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BIBLIOGRAPHY
1. Khan Yaseen, ‘A Concise textbook of Advanced Nursing Practice’, 1st edition, EMMESS
medical publishers, page no: 145-159.
2. Kaur Navdeep, ‘Textbook of Advanced Nursing Practice’, 1st edition, Jaypee
publications, page no:253-263
3. Keya Lahiri “Clinical genetics” 1ST edition 2005, Jaypee Publications, page no: 41, 104-
106.
4. Suresh Kumar Sharma,” Human genetics in nursing” 1st edition, 2007, Jaypee
Publication, page no: 106-109.
5. Ladewig, “Maternal newborn nursing”5th edition, Benjamin Publication Company, page
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6. Park K, ‘Textbook of preventive and social medicine’, 20th edition, Bhanot publishers,
page no:827-828.
7. www.nsgc.org

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