GENETIC COUNSELLING

INTRODUCTION :-

Genetic counseling is the process of

evaluating family history & medical
records,ordering genetic tests, evaluating the
results of this investigation & helping parents
understand & reach decisions about what to do
next. Genetic test are done by analyzing small
samples of blood or body tissues. They determine
whether you or your partner or your baby carry
genes for certain inherited disorders.
 WHO ARE GENETIC
COUNSELLERS ?
♦ They are postgraduates health professionals with a graduate diploma
or Master’s in genetic counselling.
♦ They have an experience in the areas of medical genetics and
counselling.
♦ They identify family at risk, investigates the problems present in the
family, interpret information about the disorder, analyze inheritance
patterns and, risk of re-occurrence & review available option with the
family.
♦ They serves as educators and resource people for other health care
professionals and for general public.
♦ Some work in administration capacities.
♦ Many engage themselves in research activities related to the field of
medical genetics & genetic counselling.
 WHAT IS THE ROLE OF GENETIC
COUNSELLING ?
♦ Genetic Counsellors provide genetic information. It is their counselling skills,
including their ability to empathically connect with their patients that leads to
demands for their skills.
♦ Good Genetic Counsellor have many strengths. They make their clients’ best
interest their foremost priority and are keenly attuned to complex professional
and ethical challenges.
♦ Genetic Counsellor use non-directive counselling method to provide the best
service to those who need them.
♦ If directive counselling are used, the counsellor tends to give advice, make
decision, be coercive, persuasive, influencing, directing and controlling.
♦ If non-directive counselling methods are employed the counsellor
communicates, enables, explores, encourages, informs, offers choices,
discusses,promotes autonomy ,is empathic, non-judgmental, and respectful of
the client.
♦ To develop a mutual relationship with the client, to understand her or him, to
relieve any psychological distress, promote a sense of control, and help find
solution to specific problems.
♦ They need to be able to : assess the client’s strengths, values and
needs;provide an individualization and flexible counselling style to suite each
client’s need and agenda;develop an awareness of self;and attend to their own
inner life.
WHO NEEDS GENETIC COUNSELLING ?
Those who can benefit from genetic counseling include those
who have a history of:

♦ A known genetic disorders e.g. Cystic Fibrosis,

Hemophilia, Down’s syndrome
♦ Birth defects eg. Spina Bifida, Cleft Lip and Palate,
Congenital heart disease, club foot
♦ Inherited Cancers e.g. Breast and Bowel Cancers
♦ Intellectual disability
♦ Hearing or visual disability
♦ Infertility or multiple miscarriages or infant deaths
♦ Genetic defects occurring frequently in special ethnic and
rational groups e.g. Tay-Sac disease, Sickle cell Anemia,
Thalassemia.
WHAT HAPPENS DURING :
“GENETIC COUNSELLING
SESSION”
♦ To determine why the patient or family is seeking genetic counselling,
♦ To identify what information they wish to get out of the session.
♦ In session , counsellor ask for any genetic disorder, multiple
miscarriages and early or unexplained death of relative (if any).
♦ Counsellor looks for medical records including ultrasound, parental
test results and other diagnosis which have been made in the past.
♦ An accurate pedigree chart is made by seeking information from the
patients, their family members, cousins, in –laws, sibling and
grandparents to find out any inherited genetic disorder is there.
♦ And finally when results come counsellor will encourage you to come
in for a discussion and will explain and advice over a particular
problems.
 WHAT IS A PEDIGREE CHART ?
♦ Pedigree is used to help make a diagnosis of genetic
disease.
♦ To determine a person’s risk of developing a genetic
disease.
♦ Contains vital medical information like birth date, age of
death, cause of death, health problems and results of
genetics test.
♦ To estimate the risk of relative face to develop a genetic
disease or have a child with a genetic disease.
♦ To determine the risk of having a child with genetic
disease.
♦ On the basis of information gathered from the first degree
relatives i.e. parents&sibling , second degree of relatives
i.e. aunts & uncles and third degree relatives i.e. cousins
& grand parents, a pedigree chart is made.
SYMBOLS USED IN HUMAN PEDIGREE
ANALYSIS :-
SYMBOLS EXPLANATION SYMBOLS EXPLANATION
MALE AFFECTED
MALE&FEMALE
FEMALE HETEROZYGOTE

MATING CARRIER

PARENTS & METHOD OF

CHILDREN(1BOY:1 IDENTIFYING
GIRL) PERSONS
1 2 3
DIZYGOTIC TWINS ABORTION OR
(MALE&FEMALE) STILL BORN

MONOZYGOTIC DEATH
TWINS(MALE)

SEX PROPOSITUS
UNSPECIEFIED (PROBAND)
NO.OF CHILDREN CONSANGUINEOUS
2 3 OF SEX INDICATED MARRIAGE
 WHAT HAPPENS DURING –
“ POST – COUNSELLING SESSION
”
♦ A family having problems and difficulty will have to decide
what to do next.
♦ Genetic Counsellor helps you to the difficulties and
uncertainties you face and understand your problems.
♦ Family have to prepare themselves for the challenges they
will face due to the disorder.
♦ Counsellor appreciates the way heredity contributes to the
disorder risk of re-occurrence.
♦ Counsellor makes the family understand the alternatives
for dealing with the risk.
♦ Counsellor make them choose a course of action and make
best possible adjustment.
 IN SHORT
GENETIC COUNSELLING IS :-
♦ Determine the facts : Diagnosis, etiology, and
inheritance patterns, prognosis, natural history,
treatment and re-occurrence of risk.
♦ Transmitting the information : To those
requesting it in a sensitive, culturally appropriate,
understandable way.
♦ Supporting the decision : Supporting the
decision making process of the couple.
♦ Genetic counselling : It is non-directive.
 PRE-REQUISITES OF
GENETIC COUNSELLING IS :-
♦ Detailed family history.
♦ Accurate diagnosis.
♦ Understanding the medical aspect of the disorder
(etiology, natural history, treatment, prognosis, burden ).
♦ Understanding the inheritance pattern ( recurrence risk ).
♦ Understanding the psycho-social impact of the
information.
♦ Training / experience in counselling techniques.
♦ Understanding the concepts of health / disease / health
care in the appropriate cultures.
CONCLUSION :-
In conclusion , Genetic Counsellors are
gatekeepers between genetic information and
technology and the lives of those for whom the
science is applied. In this role the counsellor must
balance attention to the science with attention to
the psychosocial concerns of the clients. The
counsellor must be well grounded in the principals
and practice of psychosocial assessment and
intervention and in the socio-cultural contexts
within which Genetic Counselling functions and
clients live their lives
GENETIC DISORDERS
INTRODUCTION :-

Genetic Disorder are medical

conditions caused by mutations a or a set of
genes. Mutations is any heritable change in the
genetic make up of an individual other than that
which may be caused by the simple recombination
of the genes. In other words we can say mutations
are the changes in the DNA sequence of the gene
thus this mutated genes causes genetic disorders.
 CATEGORIES OF
GENETIC DISORDERS :-
GENETIC DISORDERS ARE CATEGORIZED INTO FOUR CATEGORIES :-
♦ Chromosome Abnormalities :- In some disorders, entire or large segments of
them, are missing, duplicated, or otherwise altered. Down Syndrome and
Turner's Syndrome are examples of this type of disorder. I

♦ Single-Gene Disorders :- Some disorders result when a mutation causes the

protein product of a single gene to be altered or missing. An example of this
kind of disorder is Sickle Cell Anemia

♦ Multi-factorial Disorders :- Multi-factorial disorders result from mutations in

multiple genes, often coupled with environmental causes. The complicated
bases of these diseases make them difficult to study and to treat. Heart
Disorder, Diabetes and Cancer are examples of this type of disorder.

♦ Mitochondrial Disorders :- These relatively rare disorders are caused by

mutations in non-chromosomal DNA located within sub cellular organelles,
the mitochondria. There are multiple copies in a single cell's cytoplasm, all
transmitted by the mother in the ovum.
 GENETIC BASIS OF THE
DISORDERS DUE TO MUTATIONS
SEX - LINKED RECESSIVE MUTATIONS
:-
Pedigree pattern of a X-linked recessive disorder tends to be oblique because the
transmission of such a condition from a male to his grandson is through his carrier
daughter. In females, a sex-linked recessive condition express only in homozygous
condition whereas,in Males it expresses in hemizygous from as Y-chromosomes lacks the
genes present on the X-chromosomes.father to son transmission is absent in man.
E,g.Colorblindness,Hemophilia ,Ichthyosis,Hunter syndrome .
A TYPICAL PEDIGREE OF A TRAIT DUE TO SEX-LINKED RECESSIVE GENE.
SEX – LINKED DOMINANT MUTATIONS
:-
In case of a condition due to sex-linked dominant gene, both males and femalesare
affected & both male and female transmit the disorder to their offspring, just as in
autosomal dominant condition.affected males transmit the condition to none of his sons
but to all of the daughters. E.g. Vitamin-d resistant rickets, low blood phosphate.

A TYPICAL PEDIGREE OF A TRAIT DUE TO SEX-LINKED DOMINANT GENE.

 AUTOSOMAL DOMINANT MUTATIONS
:-
This is a salient feature of a pedigree having a disorder due to autosomal dominant
mutation. The condition typically occurs in every . Unaffected individuals never transmit
the condition to their offspring. Two affected parents may have unaffected children.
One-fourth of children of parents heterozygous for such a disorder are normal.when one
of the two parents is affected, the condition may pass on to one-half of the children of
affected individual. E.g. Brachydactyly, Achondroplasis,Hurlington’s Chorea,
Retinoblastoma.

A TYPICAL PEDIGREE OF A TRAIT DUE TO AUTOSOMAL DOMINANT GENE.

 AUTOSOMAL RECESSIVE MUTATIONS
:-
This condition appears in the progeny of two unaffected ( heterozygous;carrier )
individuals. About one-fourth of the children are affected. Two affected individuals
cannot have an unaffected child.Condition occurs with equal frequency in males and
females. Autosomal recessive disorders are frequently revealed in cousins marraiges.
E.g. Tay-Sachs disease, Cystic Fibrosis, Phenylketonuria, Alkaptonuria, Albinism.

A TYPICAL PEDIGREE OF A TRAIT DUE TO AUTOSOMAL RECESSIVE GENE.

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(1973); Genetic Counselling and The Use of Genetic
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