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GENETIC COUNSELLING

INTRODUCTION There is an old saying that "Child is a chip of the old block." What does that mean?
Does it refers to person's heredity traits. Does that means he looks or behaves like a parent (old block refers to
grand parents or some other ancestor).
DEFINITION
Heredity: It is the transmission of characteristics or factors (now called genes)
from parents to off springs.
Genetics: It is a branch of biology dealing with heredity and the law governing it. -
Encyclopedia. It is a science that deals with transmission of genes from generation to generation, their
behavior and function. The branch of biology which studies heredity and variations.
Variations: The minor difference that exist among the offsprings, of the same parent are called variation.
Heredity or environmental variation are raw materials for evolution of new species. Genes undergo changes
called mutation which are inherited. This leads to formation of new species over generations.
II. GENETIC THEORY
A. FATHER OF GENETICS
Gregor .Johann Mendel consider as the father of genetics. He laid the foundation for the study of
genetics-
Mendel was born in a poor farmer's family at Czechoslovakia on 21 July 1822.
He had his basic education and could not continue further due to poverty. Later he
went to Vienna where he studied science and mathematics. After his education, this
Austrian monk was put on a teaching job at a monastery at Brunn. He was interested in experimental
biology. And conduct experiments on pea plants in backyard of monastery for I4 years. He selected pea
plants for his work because the exhibited contrasting features, breed true, self pollination and cross pollination
could be done, easily to cultivate.
Mendel selected 7 pairs of contrasting features for this experiment. E.g., tall and short plants, round and
wrinkled seeds form, color of the seed, coat etc. He cultured the above features separately. He maintains
pure lines as these pea plants and cross pollinated them to desired character.
The offspring of these cross were called the first filial generation or F1 generation. Subsequent generation
were called F1, F2, F3 & so on. He analyzed the results and based on these results he drew some important
conclusions which have been known as "Laws of Heredity". He published it in a scientific journal "Annals of
Proceeding of the Natural History of Brunn 1986.” The journal had a limited circulation. Unfortunately, his
work was unnoticed and Mendel was disappointed by this. He died in 1884.
Mendel's work was rediscovered by three European geneticists in 1900 namely Correns of. Germany,
Hugo de Varies of Holland and Tscher Mak of Austria. They were working independently on similar lines end
came across Mendel's work while looking for previous literatures. They re-wrote his work and published it
under the title "MENDELIAN LAWS_OF PRINCIPAL’'. It exp the principles of segregation and principles of
independent assortment. Mendel is now regarded as the "Father of Genetics".
B. BIOLOGIC AND GENETIC PRINCIPLES

 Cell is the basic unit of biology.


 It is made up of cytoplasm and nucleus
 Nucleus contains 46 chromosomes in each somatic cells and 23
chromosomes in germ cells.
 Chromosomes contain units or heredity the genes.
 2000 genes in each chromosome.
 Each gene is composed of a unique sequence of UNA bases codes for each character.
Structure of Chromosomes
Each chromosome is made up of 2 strands (threads called chromatids).

 Chromatids are joined together at a point called centromere
 Each species has a fixed number of chromosomes in each cell, human being - 46.
 Chromosomes occur in pairs.
 One chromosome came from father and find the other from the mother.
Number
1. Diploid cell - contains the full number of chromosomes with two of each kind.
2. Haploid cell - contains the number cnromosome (23) e;g., Gametes or sex cells.
Types The position of the centromere in relation to their pair as chromatids varies
1. Meta centri: When centromere are in the center of chromosomes. Two arms are equal in length.
2. Sub-meta centri: When centromere are located at some distance from the end but not median. Arms are
slightly short and slightly long.
3. Acro centric: Centromere situated close to the end. One arm short and one arm long
TYPES OF GENE THERAPY:-
Two types of gene therapy are
1) in vivo
2) ex vivo
1) In vivo: - It involves direct delivery of the gene transfer vector to the patient.
2) Ex vivo:- It involves removal of target cells from the target organ, introduction of therapeutic genes into these
cells & then infusion of the cells back to the patient.
GENETIC COUNSELLING-
Definition:- "Genetic counseling is a process of communication which deals with the human problem associated
with a genetic disease in the family."
The term genetic counseling denotes informing the individuals or families about the present & future possible
genetic disorders & various options available for safeguarding from recurrence of such a disorder or minimizing
its adverse effects. Counseling should be undertaken by a physician with proper understanding of the genetic
mechanisms.
INDICATIONS:
 Known or suspected hereditary disease in a patient or family.
 Birth defects in previous children.
 Unexplained mental retardation.
 Exposure to a teratogen during pregnancy.
 Identification of malformations by ultrasonography du.
OBJECTIVES:
 To make precise diagnosis, explaining the causes & course of the disease and treatment options.
 To reduce anxiety.
 Providing Risk figures for future offspring.
 To provide information about prenatal diagnostic possibilities and risk involved.
 To help the couples make decision by non-directive counseling.
PRINCIPLES: Precise diagnosis based on a detailed family history, construction a pedigree clinical
examination & investigations.
 Documentation of prenatal & delivery history.
 Review of the available information about the disorder.
 Confirmation of the diagnosis by the relevant tests.
SUMMARY: At present about 100 autosomal recessive inborn errors of metabolism can be successfully
diagnosed prenatally by conventional biochemical techniques. Gene therapy is the transfer of recombinant
DNA, transiently or permanently into human cells for correction of disease.

Genetic counseling is a process of communication which deals with the human problem associated
with a genetic disease in the family & informing the individuals or families about various options for
safeguarding from recurrence of such a disorder.
Genetic counseling:
Definition Genetic counseling is a communication process by which personal genetic risk information is
translated into practical information for families. Genetic counselors are health care professionals with
specialized training and experience in the areas of medical genetics and counseling. Genetic counselors are
able to assist families by:

 Helping families understand information about birth defects or genetic disorders.


 This includes explaining patterns of inheritance, recurrence risk, natural history of diseases, and
genetic testing options.
 Providing non-directive supportive counseling regarding emotional issues related to a diagnosis or
testing options.
 Helping individuals or families make decisions that they are comfortable with based on their
personal ethical and religious standards.
 Connecting families with appropriate resources, such as support group or specific
types of medical clinics, locally and nationally.

Types of genetic counseling


Genetic counselors work with people concerned about the risk of an inherited disease. These
patients represent several different patient populations. Prenatal genetic counseling is provided to couples
that have an increased risk for birth defects or inherited condition and are expected a child or planning a
pregnancy. Pedi uric genetic counseling is provided to families with children suspected of having a genetic
disorder or with children previously diagnosed with a genetic disorder. Adult genetic counseling is provided to
adults with clinical features of an inherited disease or a family history of an inherited disease. Cancer genetic
counseling is provided to those with a strong family history of certain types of cancer.
Prenatal genetic counseling
There are several different reasons a person or couple may seek prenatal genetic counseling. If a women is
35 or older and pregnant, there is an increased chance that the fetus may have a chance in the number of
chromosomes present.Changes in chromosome number may lead to mental retardation and birth defects.
Down syndrome is the most common change in chromosome number that occurs more often in the feluses
of order women. Couplesary seek prental genetic counseling because of abnormal results of screening tests
performed during pregnancy. A blood test called the alpha fetal protine (AFP) test is oftered to all pregnant
women. This blood test screens for Down syndrome, open spine defects (spine bilida) and another type to
diagnosis of a parent who is affected more mildly. Genetic counseling lead to the consideration of
prcsymptoimitie genetic tasting. Testing a person to <,. they will be symptomatic tor a condition before the
symptoms occur is a.i area of «^ Ffuntjnttton disease is an example of* genetic disease for which
presymptomatic testily
available-. Huntington disease is a neurological disease ivsu-it;.Jg in clem_;nti<!. Onset oi tlu condition is
between 30 to 50 years of age. Huntington disease is inherited in an auiosomai dominant pattern. If a person
has a parent with the disease, their risk of being affected is 50%. Would presymptomatic testing relieve or
create anxiety? Would a person benefit from removal of doubt about being affected? Would knowing heJp ;i
person with life planning? Genetic counselors help patients sort through their feelings about such testing and
whether or not the results would be helpful to them.
Cancer genetic counseling
A family history of early onset breast, ovarian, or colon cancer in multiple generations of a family is a
common reason a person would seek a genetic counselor that works with cancer patients. While most cancer
is not inherited, there are some families in which a dominant s^ene is present and causing the disease. The
genetic counselor is able to discuss with a patient the chance 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. BRCAI and BRCA2. In some cases the person seeking testing has already had cancer, and in
others they have not. Therefore, presymptomatic testing is also an issue in cancer genetics. Emotional
support is important for these patients as they have often lost close relatives from cancer anA are fearful of
their own risks. For families in which a dominant form 5f cancer is detected through genetic testing, a plan
for increased surveillance for the disease tan be made.
The pedigree
In all types of genetic counseling, an important aspect of the genetic counseling session is formation
gathering about family and.medical histoty. Information gathering is performed by drawing a chart called a
pedigree. A pedigree is made of symbols and Jines that represent the ' family history. To accurately assess
the risk of inherited diseases, information about thj generations of the family, including health status and/or
cause of death, is usually needed ff the ramify msrory is complicated, information from more distant
relatives may be helpful md nedicai records may be requested for any family members who have had a
genetic disorder.
Genetic counselors assess risk in each case, help patients understand their risks and explore how patients
feel about or cope with these risks.
Prenatal tests that are offered during genetic counseling include level II ultrasounds, maternal erum AFP
screening, chorionic viljus sampling (CVS), and njnnioceiUCM^. Level II ultrasound is a detailed
ultrasound surveying fetal anatomy for birth defects. Ultiasound is limited to detection of structural changes
in anatomy and cannot detect changes in chromosome number. The maternal serum AFP screening is used to
indicate if a pregnant woman has a higher or lower chance of certain bir*h defects. This test can only change
the chances for a birth defect. 'I he screening cannot diagnose a birth defect. CVS is a way of learning how
many chromosomes is present in a fetus. A small piece of placental tissue is obtained for these studies during
the tenth to twelfth weeks of pregnancy. Amniocenresis is also a way of learning how many chromosomes
are present in a fetus. Amniotic fluid is obtained for these studies, usually-between 16 and 18 weeks of
pregnancy. There is a small risk for miscarriage with both of these tesls. Genetic counseling regarding these
procedures involves the careful explanation of benefits and limitations of each testing option. The counselor
also tries to explore how patients feel about prenatal testing and the impact of such testing on the pregnancy.
Genetic counselors arc supportive of any decision a patient makes about whether or not to have prenatal
tests performed.
Families or pediatricians seek genetic counseling when a child has features of an inherited condition. Any
child who is born with more than one birth defect, mental retardation, or dysmorphic features has an
increased chance of having a genetic syndrome. A common type of menial retardation in males /or which
genetic testing is available is jra&ilcLX syndrome. Genetic testing is also available for many other
childhood illnesses such as iiejniipjijjja and muscular
Rophy Genetic counselors work with medical geneticists to determine if a genetic syndrome is present This
process includes a careful examination of family history, medical history of the hild, review of pertinent
medical records in :hc family, a physical examination of the child, and : -times blood work or other
diagnostic tests, ff a diagnosis is made, then the medical specialist and genetic counselor rev;-.-., w ai is
known about the inheritance of the condition, natural history of the condition, treatment options, farmer
examinations that may be needed health problems common in the diagnosed syndrome and resources for
helping the family. genetic counselor also helps the family adjust to (he diagnosis by emotional support and
counseling. Many families are devastated by receiving a diagnosis, learning of the likely outcome for the
child, and by the loss of the hoped-for healthy child. There would also be a discussion about recurrence risks
in the family and who else in the family may be at risk.
Adult genetic counseling
Adults seek genetic counseling when a person in. the family decides to be tested for a known :tic condition
in the family, when an sduif begins exhibiting symptoms of an inherited litionor when there is a nevdiagncs
someone with an adult onset disorder in the family. M addition, sometimes the birth of a child with obvious
features of a genetic disease ancestry are more likely to be carriers of a lype of anemia called iJiiiJjs^oniui.
Genetic counselors discuss inheritance patterns of these diseases, earner risks, and genetic screening or
testing option^.
Consanguineous
Another question a genetic counselor asks in taking a family history i:. if the couple is related to* one
another by blood. The practice of marrying or having children with relatives is infrequent in the United
States, but is more common in some countries. When two people are related by blood, there is an increased
chance for their children to be affected with conditions inherited in 2 recessive pattern. In recessive
inheritance, each parent of a child affected with a disease carries a single gene for the disease. The child gets
two copies, one from each parent, and is affected. People who have n common ancestor are more likely than
unrelated people to be carriers of genes for the same recessively inherited genes. Depending on family
history and ethnic background, blood tests can be offered to couples to get more information about the
chance for these conditions to occur.
Exposures during pregnancy
During prenatal genetic counseling, the counselor will ask about prcgr.ancy history. If the patient has taken a
medication or has had a harmful exposure (like radiation), the genetic . counselor can discuss the possibility
of harmful affects. Ultrasound is often a useful tool to look for some affects of exposures.
Ethical issues in genetic counseling
Prenatal diagnosis of anomalies or cjjroinu.... .ui aJ>noj in jjt,i.c;; leads to a decision about • icror not a
couple wishes to continue a pregnancy. Some coupler, chose to continue a pregnancy; Prenatal diagnosis
gives theiu additional time tc emotionally prepare for the birth of child and to gather resources. Others <
hoosenot to continue a pregnancy in,which problems ecn diagnosed. These couples have unique cmotiomi
needs. Often the child is very much red addition to the famih and pat cms are devastated thai the child is not
healthy, rnpiomatic testing for adult onset disorders and cancej raise difficult issues regarding the now and
;
the reality ofdealim lormal results before symptoms. The National ;>f Genetic Counselors has creati
i Code of Ethics to guide genetic counselors in carin . patients. The Code of Ethics . msist: iffourethi al
principle:
• Beneficience is the promotion of persona! well being in others. The genetic counselor is
advocate for the patient.
• Nonmaleficience is the idea of doing no harm to a patient.
• Autonomy is recognizing the value of the individual, the person's abilities, and their point of view.
Important aspects of autonomy are truthfulness with patients, respecting confidentiality, and practicing
infonni sent.
• Justice is providing equal care for all, Fi oi :hoi< , and providing a high quality of
are.

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