Genetics is
the study of heredity, studying the genes and the surroundings and how they
form one’s personality. It focuses on a single gene and their variations.
Genetic disorder is an inherited condition in which a whole or part of the DNA
sequence is damaged. It is a condition caused due to abnormality in the DNA.
The condition is induced by mutations which are inherited from parents and it
exists in an individual from the time of birth. One such example is the sickle
cell disease. But some of the genetic disorders are caused due to damage of the
genetic material that is being passed from parent to the child.
Genetic
disorder is classified into three groups.
·
Mono genetic disorders-It leads to a single gene mutation. It may
exist on either of the chromosomes.
·
Multi factorial inheritance disorders-It leads to the combination of mutation of
multiple genes and environmental factors.
·
Chromosome disorders-It leads to deficiency of genes that are
situated on chromosomes.
Genetic
testing is performed to examine the DNA and the chemical database of the body
functions. It reveals the information about the diagnosis, treatment and
prevention of the condition.
The
following are the genetic testing conditions:
•
Testing for diagnosis- It helps in recognizing the disease which makes the patient ill. The
test result helps in managing and treating the patient.
•
Testing for predictive and pre-symptomatic genetics- It helps in identifying the changes in the gene which in turn
results in an increased development of the disease. The test results give the
information about the developing risk of a specific disease. This information
will be beneficial in concluding the lifestyle and healthcare of the patient.
•
Testing for carrier-It is useful to identify the people
who carry a change in the gene which is related to the disease. It doesn’t show
any sign of the disease. But it has the ability to transfer this altered gene
to the next generation. Therefore the newborn may develop some kind of disease.
This is recommended to the people who have a family history of inherited
disease.
•
Testing for prenatal-It is generally proposed during
pregnancy. It helps to examine the fetus whether is having a disease condition.
•
Screening for newborn-It helps in testing the babies one
or two day before the time of birth. To identify the disease that is known to
cause a health problem in the newborn.
•
Testing for pharmocogenomic-It provides the information on how
certain medicine is processed. This testing benefits the physician in choosing
the medication that works best for the patient.
•
Testing for genetic research-It is useful in learning more of
health and environment factors that are contributing the disease. It may
benefit the researchers to know more about the human body, health and disease.
Genetic Counseling
Genetic counseling will help people
learn about the genetic conditions. It is beneficial to identify the chances of
being affected by family members, and therefore leads to the conclusion of
treating and testing condition.
Following are the reasons for people
to go for genetic counseling
•
To know the family history of genetic
condition in a person.
•
To find out more about genetic
screening.
•
To talk about the abnormal tests
results during pregnancy.
•
To find out the risk of developing of
certain types of genetic condition.
•
To acquire information about the
affects of genetic disorders when exposed to X-rays, chemicals, illness etc.
•
To know the reason for recurrent
miscarriages.
•
To know the reason for the delay in
pregnancy.
•
To identify any previous pregnancies
that caused genetic condition or birth defect.
•
To know birth defects and
disabilities in newborn screening.
Genetic testing is beneficial in
order to identify the diseases hidden in our gene. Once the condition is
detected, the physician will prescribe medications that will effectively cure
and prevent the disorder. It will also help in providing useful information
while planning for children in the future. Genetic professionals will educate
the people who are suffering from a family history of genetic conditions. They
may also advice a treatment option for the genetic condition. Precautions taken
on time can help in maintaining the well-being of the people.
