Genetic Counselling

GENETIC COUNSELING
 Counseling is a process of communicating between two or more persons who meet to solve a problem,
resource a curse or take decision on various matters.
 It is not a one way process where in the counselor tells the client what to do nor it is a forum for
presentation of the counselor’s values.
 Genetic counseling process follows these basic characteristic of a counseling process.
 It is undertaken with families affected with genetic and inherited disorders.
 Sheldon Reed proposed the terminology “GENETIC COUNSELING in 1947”
Definition
The American society of human Genetic define 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.
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.
INDICATION
 If a standard prenatal screening test (such as α fetoprotein test) yields an abnormal result.
 An amniocentesis yields unexpected results (such as chromosomal defect in the unborn baby).
 Either parent or close relative has an in heritance disease or birth defect, either parents already has
children with birth defect or genetic disorders.
 The mother has had two or more miscarriage or a baby dies in infancy.
 The mother is 35yrs of age or over.
 The partner is blood relatives.
STEPS OF GENETIC COUNSELING
To complete an accurate diagnosis the following procedure should be followed .
1. Collection of 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.
 Note if there is any other person in the family with a similar problem
 Obstetric history of includes exposure to teratogens (drugs, Xrays) 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
2. 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 aspects of genetic counseling.

 To estimate it one requires to take into account following points:
 Mode of inheritance
 Analysis of pedigree or family tree
 Results of various tests
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
o Psychology of the patient.
o The Emotional stress under prevailing circumstances.
o Attitude of family members towards the patients.
o Educational, social and financial background of the family.
o Gaining confidence of consultants in subsequence meetings during follow up.
o Ethical, moral and legal implications involved in the process.
o Above all, communication skills to transmit facts in an effective manner i.e. making them more
acceptable and palatable
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
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
Prenatal tests that are offered during genetic counseling include
 Level II Ultrasound
 The maternal serum AFP
 Chorionic Villus sampling (CVS)
 Amniocentesis
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 dysmorphic 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 X-syndrome.
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 affected.
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
ROLE OF A NURSE IN GENETIC COUNSELING
 Guiding a women or couple through prenatal diagnosis.

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

Genetic Counselling

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GENETIC COUNSELING

 Provide concrete, accurate information about inherited disorders.

STEPS OF GENETIC COUNSELING

To complete an accurate diagnosis the following procedure should be followed .

 A proper record of the history of the patient is necessary: This includes

 At a glance this offers in a concise manner the state of disorder in a family.

 It forms one of the most important aspects of genetic counseling.

Prenatal Genetic Counseling

Prenatal tests that are offered during genetic counseling include

Adult Genetic Counseling

Cancer Genetic Counseling

ROLE OF A NURSE IN GENETIC COUNSELING

 Guiding a women or couple through prenatal diagnosis.

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