Pakistans population is increasing day by day and reached up to about 20 million.
It is a natural phenomenon that as much population increases the risk for different diseases
also increases. The insufficient health facilities and unawareness have increased the
death rates. The unawareness about Genetic diseases have increased the death rates.
A large number of population of Pakistan even educated people are unaware of the two
terms. Genetic Screening and Genetic Counselling.
Genetic screening or Genetic testing is the study of a personand#39;s DNA in order to identify
genetic differences or susceptibility to particular diseases or abnormalities. It is like
normal tests that are conducted in the ordinary laboratory.
Genetic counselling is the giving of advice to prospective parents concerning the risks of
genetic disorders in a future child. It gives the prediction about the health care of the
offspring of parents.
Genetic testing is often carried out when there is going a cousin marriage. Scientists
stress on to reduce cousin marriages because of the higher probability of disease
causing. Although it is not necessary that the genetic diseases are only caused due to
cousin marriages. It may be also caused by the environmental factors also. In many
states of the United States, the cousin marriage is prohibited due to the increase
number of genetic diseases while in the rest of the world, this topic is under debate. In
Pakistan the rate of cousin marriages is high about 50-60% it means that Pakistani
population is at higher risk of Genetic diseases. Pakistan have high ranking in genetic
diseases. Pakistan ranks 5 th in Genetic anomalies, 7 th in lung diseases, 8 th in Breast
Cancer, while 10 th in oral cancer. So before conducting a marriage we should conduct
Genetic screening and Genetic Counselling. This will help in the reduction of time and
What will be a genetic disease?
Genetic disease is caused due to hereditary material called DNA. Change in the DNA,
chromosome or presence of an abnormal copy of a Gene (working sub unit of DNA)
cause Genetic diseases. Several factors indicate the possibility of a genetic disease in a
differential diagnosis. One major factor is the occurrence of a condition among family
members that is disclosed when the family history is obtained. The occurrence of the
same condition such as multiple miscarriages, stillbirths, or childhood deaths in more
than one family member (particularly first-degree relatives) is suggestive of a genetic
disease. Additionally, family history of common adult conditions (e.g., heart disease,
cancer, and dementia) that occur in two or more family members at relatively young
ages may also suggest a genetic predisposition. Genetic disease may also contain
Developmental delay, mental retardation, and congenital abnormalities.
Genetic testing allows the genetic diagnosis of susceptibilities to inherited or genetic
diseases, In addition to studying chromosomes to the level of individual genes, genetic
testing in a broader sense includes biochemical tests for the possible presence of
genetic diseases, or mutant forms of genes associated with increased risk of developing
genetic disorders. Genetic testing identifies changes in chromosomes, genes, or
proteins. The variety of genetic tests has expanded throughout the years. In the past,
the main genetic tests searched for abnormal chromosome numbers and mutations that
lead to rare, inherited disorders. Today, tests involve analyzing multiple genes to
determine the risk of developing certain more common diseases such as heart disease
and cancer. The results of a genetic test can confirm or rule out a suspected genetic
condition or help determine a personand#39;s chance of developing or passing on a genetic
disorder. Several hundred genetic tests are currently in use, and more are being
There are many benefits to pursing a genetic diagnosis.
1. Family planning: Knowing the genetic diagnosis can help people to understand how
the disorder is passed within a family. It can also inform people about the risks of having
an affected child. This information can help people make decisions about having
children and can provide health risks for family members.
2. Medical problems: Identifying the specific gene can help to predict medical problems
that may be associated with the gene. For example, liver problems can be associated
with change in the MTM1 gene. By knowing that there are risks for certain medical
problems, patients and their doctors can decide together what type of monitoring,
treatments, or preventative actions they may need.
3. Research: As clinical trials get underway, researchers will want to enroll people in
research based on their genetic diagnosis. Thus, genetic confirmation may be a
condition to participate in future research.
4. Treatment: Knowing the specific change in gene can help doctors and scientists to
understand the specific cause of the disorder in the body. By identifying the specific
mechanism which is causing the deficit, it can help to target potential treatments
Role of Genetic Counseling
Genetic counselors help identify families at possible risk of a genetic condition by
gathering and analyzing family history and inheritance patterns and calculating chances
of recurrence. They provide information about genetic testing and related procedures.
They are trained to present complex and difficult-to- comprehend information about
genetic risks, testing, and diagnosis to families and patients. Genetic counselors can
help families understand the significance of genetic conditions in relation to cultural,
personal, and familial contexts. They also discuss available options and can provide
referrals to educational services, advocacy and support groups, other health
professionals, and community or state services. Genetic counselors can serve as a
central resource of information about genetic conditions for other healthcare
professionals, patients, and the general public.