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.
