GENETI

C
SCREEN
ING
Fabian-Gumapac-Reyes
What is genetic
screening?
Genetic Screening
• A tool used to identify individuals who are at a higher risk of
developing a particular disorder or who carry a specific gene
for a disorder. 
• It is a type of genetic testing, used to identify changes in an
individual’s genetic material, such as their chromosomes,
genes, or proteins.
•  Genetic screening seeks to identify altered genes in
individuals in order to determine any risk and provide
preventive measures and early treatment options
accordingly. 
 The Purpose of Genetic Screening
• To confirm the diagnosis in patients with symptoms.

• To advise other family members of the diagnosed patient whether they also have the disease (or have genetic

markers for the disease even if they don't have symptoms), are carriers or are neither.

• When one partner is a sufferer or carrier, to test the other partner in order to advise whether their child will have

the disease, be a carrier or will not have the disease.

• In the population, screening is carried out to discover undiagnosed sufferers or those with genetic markers for the

disease, to discover carriers and to aid research into the prevalence and severity of the disease and the carrier ratio
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Types of
Screening
 two classes of genetic screening

Pre-symptomatic
carrier screening
screening
-carried out in healthy individuals where
-this is used to test individuals
genes are harmful to the health of their
whose health is in danger
future offspring

Other types of genetic screening usually include parental screening, newborn screening, carrier
screening, forensic screening and susceptibility screening
• Carrier screening - is related to the analysis of individuals with a
gene or a chromosome abnormality that may cause problems either for
offspring or the person screened. This can be done by testing of blood
or tissue samples and can indicate the existence of a particular genetic
trait, changes in chromosomes, or changes in DNA that are associated
with inherited diseases in asymptomatic individuals.
• Carrier screening tests require a sample of an individual’s blood,
saliva, or tissue, usually from the inside of the cheek. The parent who
is most likely to be a carrier is typically tested first. If this parent tests
negative and is determined to not be a carrier, no further testing is
required. If, however, they are determined to be a carrier, the other
parent is also tested.
• Prenatal screening -is done when a fetus is at risk for various
identifiable genetic diseases or traits. Prenatal screening began
in 1966. Prenatal genetic screening is not completely accurate,
and the rate of inaccuracy varies from test to test. In general,
these noninvasive prenatal tests, which can involve blood tests,
ultrasounds, and DNA testing, are usually conducted during the
first or second trimester of pregnancy. If results indicate an
increased risk of a specific genetic disorder, further genetic
testing is typically conducted because screening test results
alone cannot make a definitive diagnosis.
• Newborn screening - is concerned with the analysis of blood or tissue samples taken in early infancy in

order to detect genetic diseases for which early intervention can avert serious health problems or death.

This started in 1960 with the ability to test newborns for a rare metabolic disease, phenylketonuria

(PKU).

• Carrier screening - is related to the analysis of individuals with a gene or a chromosome abnormality

that may cause problems either for offspring or the person screened. This can be done by testing of blood

or tissue samples and can indicate the existence of a particular genetic trait, changes in chromosomes, or

changes in DNA that are associated with inherited diseases in asymptomatic individuals.
• Forensic screening - seeks to discover a genetic linkage between suspects and evidence discovered in

criminal investigations. This is a very powerful tool to clear the innocent and convict the guilt. Since

DNA is unique, many people are reluctant to see such information become part of any national database,

which might include information not only about identity but also about proclivity toward disease or

behavior .

• Susceptibility screening - involves the screening of selected populations for genetic susceptibility to

environmental hazards. Helps to identify workers who may be susceptible to toxic substances that are

found in their workplace and may cause future disabilities

What diseases
can genetic
screening
detect?
Genetic screening most commonly screens for Down syndrome, Edwards syndrome, and brain or neural
tube defects.

 Down syndrome is a genetic disorder caused by a third copy of chromosome 21, and it is
associated with intellectual disability and characteristic facial features.

 Edwards syndrome, a genetic disorder caused by a third copy of chromosome 18, is associated
with a low birth weight, clenched hands, and an unusually shaped head.

 Brain or neural tube defects can cause disorders like spina bifida, in which the fetal spinal cord
does not close completely during development, and anencephaly, a disorder in which most of the
brain and skull do not develop.

.
 In the first trimester, screening commonly includes a blood test to measure two substances in the blood, called

beta-hCG and PAPP-A. Decreased levels of beta-hCG and PAPP-A in the blood of the mother are linked to an

increased risk of Edwards syndrome. It is also common at this point to perform nuchal translucency

screening, which is an ultrasound exam that measures the thickness of the space on the fetus’ neck. An

atypical nuchal length is linked to an increased risk of Down syndrome and physical defects of the heart,

abdominal wall, and skeleton

 In the second trimester, a “quad screen” is completed to measure the levels of four different substances in the

blood: AFP, beta-hCG, estriol, and Inhibin A. Additionally, another ultrasound is conducted to screen for

major defects affecting the brain, spine, facial features, abdomen, heart, and limbs.
CONCLUSION
Today, genetic screening to detect genetic carrier status has become a

mainstay of current clinical practice and can easily be done by a variety of

detection techniques. The aim of such screening programs is to eliminate the

transmission of severely debilitating diseases, maximize parenthood,

decrease burden of genetic illnesses etc.

References:
● Genetic screening - osmosis. (n.d.). Retrieved November 15, 2021, from

https://www.osmosis.org/answers/genetic-screening.

● Human genetic screening. (n.d.). Retrieved November 15, 2021, from

https://www.ndsu.edu/pubweb/~mcclean/plsc431/students99/karthikeyan.htm.