GENETIC COUNSELING

Presented by,Jyothi.C,

1st year MSc Nursing,The Oxford college of

Nursing.

INTRODUCTION

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 counseling 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 confronted 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.

Smith (1955) defines Counseling as “ 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 ”

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 n 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  An accurate diagnosis of disorder. 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 both present and relevant past historyFamily history includes siblings and other relatives also. Kindly

note if there is any other person in the family with a similar problemObstetric 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 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

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 inheritanceAnalysis of pedigree or family treeResults of various tests

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.

 

Management: In genetics, “Treatment” implies a very limited

scope. It naturally aims for prevention rather then 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 n 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

APPLICATIONS OF GENETIC COUNSELING

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

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 more mildly affected

Genetic counseling for adults may lead to the consideration of presymptomatic genetic testing

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 COUNSELINGGuiding 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.

CONCLUSIONGenetic 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. 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.

BIBLIOGRAPHY Keya Lahiri “Clinical genetics” 1ST edition 2005, Jaypee Publications,

page no: 41, 104-106. Suresh kumar Sharma,”Human genetics in nursing” 1st edition 2007,

Jaypee Publication, page no: 106-109. Trula mayer, “Foundation of maternal newborn nursing” Saunder

Publication, page no : 81-84. Ladewig, “Maternal newborn nursing”5th edition, Benjamin Publication

Company, page no: 167-175 . Elizabeth M. Variorolis ”Foundation of psychiatrics mental health

nursing” 4th edition 2002, Saunders Publication, page no:210-211. http://www.medindia.net/patient/patient info/genetic counseling http://www.kidshealth.org/pregnancy/newborn/medical problems/genetic

counseling.html