Genetic counseling involves assessing risk factors for genetic disorders, constructing pedigrees, estimating disease risk, providing information to clients, and helping them make decisions. It aims to educate clients, provide support, and allow for informed reproductive choices. Genetic counselors are specially trained to communicate complex genetic information in a caring, non-directive manner. They work with clients in a variety of settings to address legal, ethical and psychosocial issues surrounding genetic testing and diagnosis. Nurses play an important supporting role by recognizing genetic conditions, assisting with testing and counseling, and providing ongoing education and support.

1. GENETIC COUNSELING
Presented By: Ms. Amruta Gade
First Year M.Sc.

2. History
 The father of genetics is George Mendel, a late 19th century scientist. Mendel studied
'Trait inheritance patterns in the way traits were handed down from parents to offspring.
He observed that organism (pea plant) inherit traits by way of discrete "units of
inheritance". This still used today, is a somewhere an ambiguous definition of what is
referred to as a gene

3. Introduction
Counseling is a process of communicating between two or more persons who
meet to solve a problem, resource a cures or take decision on various matters. It
is not a one way process where in the counseling tells the client what to do or it
is a forum for presentation of the counselor's values.

4. DEFINITION
According to American society of human genetics.
Genetic counselling is defined, “Genetic counselling
is a communication process which deals with human
problems associated with the occurrence or risk of
genetic disorder in a family."

5. RISK FACTORS THAT REQUIRE GENETIC
COUNSELLING
 Either parent or a close relative has an inherited disease or birth defect.
 Either parent already has children with birth defects or genetic disorders.
 The mother-to-be had two or more miscarriages or babies that died in infancy.
 The mother-to-be will be 35 or older when the baby is born. Chances of having a child
with Down syndrome increase with the mother's age: a woman has a 1 in 350 chance of
conceiving a child with Down syndrome at age 35, a 1 in 110 chance at age 40, and a 1
in 30 chance at age 45.
 A standard prenatal screening test (such as the alpha-fetoprotein test) yields an
abnormal result
 An amniocentesis yields an unexpected result (such as a chromosomal defect in the
unborn baby)

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

7. INDICATION

8. OBJECTIVES OF GENETIC COUNSELING:
 To make precise diagnosis (if possible), explaining the cause and course of
disease and treatment options available.
 To reduce anxiety and guilt in parents.
 Providing risk figure for future of spring/ relatives based on genetic facts.
 To provide information about prenatal diagnostic possibilities and risk
involved.
 To help the couples make decision by non-directive counseling principles.
 Precise diagnosis based on a detailed family history, construction of a
pedigree, clinical examination and investigations.
 Calculation of the risk of recurrence based on inheritance pattern.

9. PRINCIPLES:
 It is a therapeutic measure.
 It include establishment of accurate diagnosis, treatment of the affected individual as
well as the prevention of occurrence of genetic disorder.
 It require special aptitude for the communication.
 It must be non-directive.
 Follow up session is always desirable.

10. WHO CAN PROVIDE GENETIC
COUNSELING?
AND
WHAT SETTING RECOVIRE FOR GENETIC
COUNSELLING

11.  Genetic counselors are the professionals who have completed a
master’s program in medical genetics and counseling skills. They have
passed a certification exam administered by the American Board of
genetic Counseling.
 Genetic counselors are the 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.

12. SETTING FOR GENETIC COUNSELLING:
The Setting genetic counseling is done in a variety of settings—genetic counseling
centers or clinics, specialty clinics (e.g. cleft palate), general clinics, offices,
agencies and laboratories and other sites. In large cities, geneticists are often
affiliated with hospitals and medical centers, whereas in smaller communities,
they may be located in individual offices.

13. REFERRALS OF CLIENTS
The major sources of referrals are physicians, nurses, social service
agencies (e.g. Planned Parenthood and mental health department),
adoption agencies, speech and hearing clinics, health departments
and teachers.

14. TIMING
 Because many emotions are involved in a genetic disorder, it is not always helpful
to provide genetic counseling immediately after the birth of an affected child or
the unexpected diagnosis of a genetic disease in an adult. Any of these can
precipitate a family crisis. Genetic disease is perceived as permanent.
 Falek and Britten describe shock followed by denial as the first part of the coping
process. When counselees are seen in this phase, which may be present 3–6
months after the crisis, then they do not know what they want to know, and they
may not hear what is said to them. Anxiety and anger follow and this may be
directed outwardly as hostility or inwardly as guilt. At this point, the counselee
may be ready to intellectually understand and adjust only on an intellectual level.
 Depression occurs next, and if the counselee can achieve behavioral adjustment,
successful accommodation can occur. Staff who do not understand the basis for
this behavior may demonstrate anger and hostility towards the client, which
obviously will act to negative efforts to establish a good client-counselor
relationship. However, an initial early interview can be used to assess the degree
of negative feelings and to use intervention techniques or to provide support
services for the ongoing counseling, if it appears indicated. Usually a family
history can be obtained and may provide the clients with the feeling that they are
taking some positive action. A second appointment is then scheduled.

15. ROLE OF A GENETIC COUNSELOR
 Helping people understand information about the birth defects or genetic
disorders. These include explaining patterns of inheritance, recurrence
risks, natural, history of disease and genetic testing options.
 Providing non-directive supporting counseling regarding issues related to a
diagnosis or testing options.
 Helping individuals and families make decisions with which they are
comfortable, based on their personal ethical and religious standards.
 Connecting individuals and families with appropriate resources, such as
support groups or specific types of medical clinics locally and nationally.

16. STEPS OF GENETIC COUNSELING
History
Pedigree
charting
Estimation of
risk
Transmitting
information
Management

17. 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 any other person in the family with 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 in autosomal recessive disorders

18. PEDIGREE CHARTING
 At a glance this offers in a concise manner the state of disorder in a family.
Constructing a pedigree with proper interrogation though time consuming, is
ultimately rewarding. If forms an indispensable step towards counseling
3. ESTIMATION OF RISK
 It forms one of the most important aspect 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

19. 4. 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.

20. 5. 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.

21. GENETIC SCREENING

22. LEGALAND ETHICAL ISSUE

23. Respect for autonomy:
Respect for autonomy of the individual is the first principle. Respect of autonomy
arises from the assertion that individuals are capable of reasoning, deciding,
willing and acting and thus have right to control their own destiny. This principle
requires that a physician approaching a patient about a particular intervention has
the responsibility to provide sufficient information to allow that individual to
make an informed, independent and voluntary judgment about whether he or she
wishes to proceed.

24. Beneficence and non-maleficence:
Beneficence is the mandate to maximize the benefits of whatever intervention is
being considered. Non-maleficence is the duty to “first do no harm”, i.e. to
minimize the risk. This requires the health care provider to describe the benefits
and risks fully, in order to allow the informed decision by the patient. This differs
from a more paternalistic approach of recommending particular course of action,
even when such an approach may be benign and well- intentioned.

25. Privacy and confidentiality:
A generally accepted principle is that individuals should have the right to make an informed
decision about whether or not other third parties (insurers, employers, spouses, family,
educational institutions, researchers and others) should have access to medical information
(genetic information) about them. Confidentiality refers to the principle that information
provided in a physician-patient relationship carries with it the expectation of nondisclosure
except under explicit circumstances. Without privacy and confidentiality, trust between a
health care provider and a patient is at risk.
For example, in case of discovery of misattributed paternity, the confidentiality of the
relationship with the mother and her desire to keep this information private is generally
considered to carry greater weight than the father’s right to know the biological status of his
child.

26. Justice and Equality:
The principles of justice and equality refer to how an individual is treated in the context of
the rest of the society. Are the benefits distributed fairly? Are burdens shared? Is access to
medical care, social goods, and potentially beneficial research studies limited to those with
financial resources or perceived social worth?
For example, denying employment to a healthy individual on the basis of a genetic
predisposition to future illness is in- compatible with the usual principles of justice and
equity. In such cases, legal action against the employer might be taken.

27. ROLE OF NURSE IN GENETIC COUNSELING
 Recognize or suspect genetic disorders by their physical characteristics and
clinical manifestations.
 Create a genetic pedigree (diagram of the family. history), including cause of
death and any genetically 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 individuals and care givers need
to know to plan for the care of the patient and his family.
 Clear-up misconceptions and allay feelings of guilt.
 Assist with the diagnostic process by exploring medical and family history
information, by using physical assessment skills, by obtaining blood sample, or
by assisting with other means of sample collection, as indicated.

28.  Enhance and reinforce self-image and self-worth of parents, child or the
individual at risk for presenting with a genetic condition.
 Encourage interaction with family and friends, offer referrals, phone numbers
of support group.
Refer and prepare family for genetic counseling:
 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, although the determination of an abnormality is also a possibility.
 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 because in a few years they may want more
children.
 Remain non-judgmental.

29.  Check with the Govt. Policy for information and resources regarding neonate
testing required, state regulations on genetic testing and research.
 Recognize that there are many ethical, legal, psychosocial and professional
issues associated with obtaining, using and sorting genetic information.
 Be aware of associated professional responsibilities, including informed
consent, documentation in medical records, medical releases and individual
privacy of information.