Genetic Counselling


V. Kavitha Rajagopal

College of Nursing, Sri.Ramakrishna Institute of Para Medical Sciences, Coimbatore.





There are more than 700 single gene disorders. The best means for reducing the number of children born with genetic defects is to provide families with genetic information and services.




Genetics is the science of heredity and genes.


Genetic counselling:

It refers to a series of procedures that include processing the initial referral, assessing the needs, decoding on the appropriate tests, interpreting the results, and finally, communicating these findings to the proband and family.



Proband is a clinically identified person who displays the characteristics or features of the disease in question.



- To advise the couples on probability of having child with genetic disorders before conception.

- To advise the couples on whether child has or not genetic disorders after conception.

- To inform the couples on options that available to them including not to be pregnant.



i) Before conception

ii) After conception


i) Before conception:

- Detailed family history should be taken as back as for two generations from both sides of the couples.

- Make a pedigree or family tree

- Carryout various diagnostic tests associated with pedigree

- Diagnose the case.


ii) After conception/ Birth:

- Make the family members to explore and adjust with this trauma

-  Educate the couples on mechanism of genetic disorders.

- Encourage the couples to ventilate their feelings about their child’s condition.

- Inform about the available community facilities.

- Encourage to have an ongoing relationship with the genetic centers which helps to update the therapies and diagnostic procedures.



1. Congenital abnormalities

a) Mental retardation

b) Congenital anomalies

c) Ambigious genetalia


2. Parents exposure to drugs, radiation and certain infection

3. Infertility

4. Consanguinity

5. Maternal age (More than 35)

6. Anxiety about potential offspring

7. Known inherited disorders

8.Identified carriers of metabolic, biochemical or chromosomal disorders

9. Multiple miscarriages or still birth



When the genetic counselling is given in a team setting that enables parents to receive sophisticated care from health professionals.


Team members are:

- Physician geneticist

- Genetic counselor

- Cytogeniticist

- Neurologist

- Psychiatrist

- Pediatrician

- Obstetrician

- Nurse

- Social worker

Other medical specialists are consulted as needed.



The following factors have to be considered.

i)          Culture and religion

ii)         Economic condition of the family

iii)        Effects on family functioning

iv)       Confidentiality

v)        Informed consent


i) Culture and religion:

- Efforts should be made to view patients within the social framework of their particular family

- Non judge mental environment should be provided to ventilate their feelings freely

- Couple’s religious values and practices should be determined and organize them accordingly

- Couples should be provided enough time to discuss their expectations about family size and constitution.

Such discussions reveal much about the reproductive attitudes as well as about the interpersonal relationship of the couple.


ii) Economic condition of the family:

It is strongly affect a family’s attitude towards their reproductive potential.

- Parents need to be made aware of the financial responsibilities of the child’s condition, if the chronically ill child is a possibility.

- Open discussion should be made on natural history of the disease as well as potential impact on the family structure.


iii) Effects on family functioning:

Diagnosis of genetic disease usually has a major impact on family functioning. The associated distress is expressed in a different way by each family, but a variety of coping mechanisms will be developed by each member of the family.

- Birth of an affected child may bring about a tremendous change in the parents self-image which makes the marital relationship more vulnerable.

- Divorce and sexual dysfunctions are common.

- Inadequate social supports make the parents unable to maintain their sense of personal worth.

- Sense of guilt may be experienced by the responsible parent if the genetic disorders caused by one of the parent.



iv) Confidentiality:

Although confidentiality should be provided for patients in all areas of medical service, it is particularly important to families seeking genetic counselling.

- Parents should be openly assured that the information they provide about themselves and their family will be kept in the strictest confidence.

- Couples need to be reassured that no information will be shared with employers also.


v) Informed consent:

- Genetic counselling should support the concept of non directive counselling and efforts should be made to make clear to couples that they have the right to refuse any genetic screening or diagnostic procedure. It is the responsibilities of the genetic counselors to explain these patient’s rights.

- Informed consent can only be exercised when adequate medical information has been provided.



Nurses specializing in maternal health care play a key role in the prevention of genetic disease. Nurses may be the first to discover “Clues” and identify a genetic problem. Her role is explained with the help of nursing process.


i) Assessment:

-Collect detailed family history and makes a pedigree

- Prepare the pregnant woman for diagnostic tests by giving detailed information about the tests and its possible outcomes.

- Encourage the family members to verbalize their feelings

- The nurse must be sensitive to marital stress or potential stress on a family. The nurse can supply these informations with the family history and pedigree chart will be helpful to the genetic counselor.

- The nurse has to explain to couple that for getting results, they have to sit for several sessions and time is needed for testing and for obtaining results from these results.


ii) Diagnosis:

- The nurse may assist in preparing family members for specific genetic diagnostic tests, but she is also responsible for diagnosing responses to the process of genetic testing and counselling

The following are some diagnoses that may be particularly useful n the care of families with genetic problems.

- Decisional conflict

- Grieving

- Knowledge deficit

- Disturbance in self-concept


iii) Planning and Implementation:

In this, the nurse has to consider the following factors:

a) Interpretation and reinforcement

b) Guidance for decision making

c) Resources

d) Supporting

e) Providing information

a) Interpretation and reinforcement:

- The nurse is needed to interpret and reinforce information given by the geneticist sometimes

- The nurse should be able to answer further questions and clarify the information given.

- The nurse may discuss treatment, facilities, community agencies for support, and alternatives.


b) Guidance for decision making:

- The couple needs to be assured that they do not need to rush into a decision- unless the client is went into her pregnancy and there is a question of terminating a pregnancy.

- The nurse should maintain a close association with the patient’s genetics team in order to avoid providing conflicting information.

- The nurse should give support and make arrangements to facilitate decisions related to defective birth of a baby, termination of pregnancy, sterilization, adoption or artificial insemination.


c) Resources:

The nurse should act as a resource person regarding available community resources for particular disorder.


d) Supporting:

-The nurse must encourage the family to verbalize their feelings while they are arriving at a decision and after the final decision has been reached. The nurse may find that further referral is necessary.

- Special consideration must be given to parents selectively terminating a pregnancy so that the personal biases of the medical and nursing staff do not interfere with supportive care.


e) Providing information:

- It is also the responsibility of the nurse to provide needed information for family members at critical points in the life cycle.

- The nurse must be sensitive to the family’s changing needs for information and support.

- Nurses should be vigorous in their exploration f these areas of concern and be knowledgeable about the resources available to patients who need referral foe genetic counselling.


iv) Evaluation:

- Once genetic care is indicated, the nurse should evaluate the adequacy of patient teaching and supportive care on an ongoing basis.

- When the families are faced with difficult decisions, with respect to genetic outcomes, the nurse is responsible for ongoing follow up to ensure that adequate information and anticipatory guidance is available.

- The effectiveness of nursing care may be reflected in the psychological adaptation of family members to grief and loss and in their ability to cope with stresses related to genetic problems.


Normally, the mother who is coming for genetic counselling will be having the questions in her mind that “Am I capable of producing normal child? - So, the health professionals should approach the couples in a humane and sensitive fashion.



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3.        Lowdermilk, (2000).Maternity and women’s health care. (7th Ed.).  Philadelphia:  The C.V. Mosby Company.

4.        Lynna.Y.Littleton, (2002). Maternal,Neonatal,and Women’s health Nursing.Delmar.

5.        Katharyn A. May, (1990). Comprehensive Maternity Nursing. (2nd Ed.).Lippincott.






Received on 15.07.2011                                   Modified on 12.08.2011

Accepted on 16.10.2011                         © A&V Publication all right reserved

Asian J. Nur. Edu. and Research 1(3): July-Sept. 2011; Page 89-91