ASSIGNMENT

ON

GENETIC TESTING

SUBMITTED TO SUBMITTED BY
DR.G.RAJI M.BAVITHRA
PROFESSOR M.SC (NURSING)IYR
MEDICAL SURGICAL NURSING VMCON
VMCON KARAIKAL
KARAIKAL
 GENETIC TESTING
INTRODUCTION

Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or
proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or
help determine a person’s chance of developing or passing on a genetic disorder. More than
77,000 genetic tests are currently in use, and others are being developed.

Genetic testing involves looking for changes in:

• Genes: Gene tests study DNA sequences to identify variations (mutations) in genes that can
cause or increase the risk of a genetic disorder. Gene tests can be narrow or large in scope,
analysing an individual DNA building block (nucleotide), one or more genes, or all of a
person’s DNA (which is known as their genome).

• Chromosomes: Chromosomal genetic tests analyse whole chromosomes or long lengths of

DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that
cause a genetic condition.

• Proteins: Biochemical genetic tests study the amount or activity level of proteins or
enzymes; abnormalities in either can indicate changes to the DNA that result in a genetic
disorder.

DEFINITION

A process in which a persons or embryos DNA is isolated and tested for the presence of
specific genes.

Genetic testing involves examining your DNA, The Chemical Database That Carries
Instructions for Your Body’s Function.

TYPES OF GENETIC TESTING

NEWBORN SCREENING: Newborn screening is used just after birth to identify genetic
disorders that can be treated early in life. The routine testing of infants for certain disorders is
the most widespread use of genetic testing. All states currently test infants for

 Phenylketonuria
 Galactosemia
  Cystic fibrosis
 Sickle cell disease or thalassemia

DIAGNOSTIC TESTING :Diagnostic testing is used to identify or rule out a specific

genetic or chromosomal condition. In many cases, genetic testing is used to confirm a
diagnosis when a particular condition is suspected based on physical signs and symptoms.
Diagnostic testing can be performed before birth or at any time during a person's life but is
not available for all genes or all genetic conditions. The results of a diagnostic test can
influence a person's choices about health care and the management of the disorder.

CARRIER TESTING: Carrier testing is used to identify people who carry one copy of a
gene mutation that, when present in two copies, causes a genetic disorder. This type of testing
is offered to individuals who have a family history of a genetic disorder and to people in
certain ethnic groups with an increased risk of specific genetic conditions. If both parents are
tested, the test can provide information about a couple's risk of having a child with a genetic
condition.

PRENATAL TESTING :Prenatal testing is used to detect changes in a foetus’s genes or

chromosomes before birth. This type of testing is offered during pregnancy if there is an
increased risk that the baby will have a genetic or chromosomal disorder. In some cases,
prenatal testing can lessen a couple's uncertainty or help them make decisions about a
pregnancy. It cannot identify all possible inherited disorders and birth defects, however.

Common prenatal test.

 Amniocentesis
 Chorionic villus sampling
 Cordocentesis
 ultrasound

PREIMPLANTATION TESTING :Preimplantation testing, also called preimplantation

genetic diagnosis (PGD), is a specialized technique that can reduce the risk of having a child
with a particular genetic or chromosomal disorder. It is used to detect genetic changes in
embryos that were created using assisted reproductive techniques (ART) such as in-vitro
fertilization (IVF). In-vitro fertilization involves removing egg cells from a woman’s ovaries
and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a
small number of cells are taken from these embryos and tested for certain genetic changes.
Only embryos without these changes are implanted in the uterus to initiate a pregnancy.

PREDICTIVE AND PRESYMPTOMATIC TESTING :Predictive and presymptomatic

types of testing are used to detect gene mutations associated with disorders that appear after
birth, often later in life. These tests can be helpful to people who have a family member with
a genetic disorder, but who have no features of the disorder themselves at the time of testing.

FORENSIC TESTING: Forensic testing uses DNA sequences to identify an individual for
legal purposes. Unlike the tests described above, forensic testing is not used to detect gene
mutations associated with disease. This type of testing can identify crime or catastrophe
victims, rule out or implicate a crime suspect, or establish biological relationships between
people (for example, paternity).

METHODS OF GENETIC TESTING:

KARYOTYPES: it is the number and appearance of chromosomes in the nucleus of a cell.,

complete set of chromosomes in a species or in an individual organism and for a test that
detects this complement and measures this number.

LINKAGE TESTING: It is the tendency of DNA sequences that are close together on a
chromosome to be inherited together during the meiosis phase of sexual reproduction.

METHYLATION STUDIES: examine the methyl groups to DNA molecule. DNA

methylation is a biochemical process where a methyl group is added to adenine DNA
molecule.

PROTIEN TRUNCATION TEST: The technique screens for biologically relevant gene
mutations, which a cause an early stop to the process of protein translation which leads to in
complete and nonfunctional proteins.

INDICATIONS
MATERNAL RISK FACTORS
 Advanced maternal age>35 years
 Family history of previous baby with chromosomal anomaly
 Maternal diabetes ,epilepsy
 History of recurrent miscarriage
 Abnormal maternal serum triple marker screening test
 Exposure to medications during pregnancy
  Oligohydramnios or polyhydramnios
 Rubella/cytomegalovirus

PAEDIATRIC RISK FACTOR

 Known chromosomal abnormality.

 Delay in growth and development
 Mental retardation

ADULT CONDITIONS

 Unexplained fertility or miscarriages

 Mental retardation
 Family history of adult-onset neurodegenerative disorder
 Symptoms of genetic conditions
 Suspected inherited predisposition.
 Family history with unusual type of cancer

BENEFIT OF GENETIC TESTING:

 Test results can provide a sense of relief from uncertainty and help people make
decisions about managing their health care.
 Positive result can help people to make preventive measures.
 Prenatal test at early stage helps couples to decide whether to continue or terminate
pregnancy.

PRECAUTIONS

 A genetic counsellor reviews the persons family history and medical records and
reason for the test.the counsellor explains the likelihood that the test will detect all
possible causes of the disease in question.
 Learning about the disease in question ,the benefits and risk of both a positive and
negative result and what treatment choices are available if the result is positive.
 After the discussion ,the person should have the opportunity to indicate in writing that
he or she gave informed consent to have the test performed.

PREPARATION

 Before undergoing genetic testing, gather as much information as about family’s

medical history then talk with doctor or genetic counsellor about personal and family
medical; history this can help understand the risk factors. Discuss questions or
 concerns about genetic testing at the meeting. Also talk about options ,depending on
the results of the test
 Doctor, medical genetics or nurse practioner may administer a genetic test depending
on the type of test, a sample of your blood,skin,amnitiuc fluid or other tissues will be
collected and sent to lab for analysis.

Blood sample:

A member of health care team obtains the sample by inserting a needle into vein in arm for
a newborn screening test, a blood sample is taken by piercing the Babys heel.
Cheek swab:

In some situations, a swab sample from the inside of cheek is collected for genetic testing.

Amniocentesis:

Prenatal genetic test relies on a sample of amniotic fluid .during amniocentesis ,doctor inserts
a hollow needle through the abdominal wall and into uterus. A small amount of amniotic fluid
is withdrawn into syringe and the needle is removed.

Chorionic villus sampling

For this prenatal genetic test, doctors take a tissue sample from the placenta.

Aftercare:

After blood collection the person can feel discomfort or bruising at the puncture site or may
become dizzy or faint. Pressure to the puncture site and warm packs relives discomfort.

RESULTS:

POSITIVE RESULT

 If the genetic result is positive, that means genetic alterations that was being tested
was detected .appositive result will help doctor determine the right treatment and
management plan related disease condition.
 If altered gene that could cause disease in child and the test is positive, the doctor can
help determine to child’s risk of actually developing the disease.

NEGATIVE RESULTS:
A negative result means genetic alteration was not detected by the test. but negative result do
not guarantee that you don’t have an alteration. The accuracy of genetic test to detect
alterations varies, depending on the condition being tested for and whether or not an
alteration has been previously identified in family member.

INCONCLUSIVE RESULTS

In some cases, genetic test may not be able op provide helpful information about the gene in
question. Everyone has variations in the way genes appear and often these variations don’t
affect your health.

ROLE OF NURSE :

 Identify infants and children at risk of genetic disorder.

 Obtain history of family prenatal and health
 Assess the family’s understanding of genetic condition.
 Refer for appropriate screening or testing program.
 Helps in organizing screening programs.
 Establish a plan of care with family and coordinate care with other health care
professionals.
 Understand the benefits and risk of genetic testing and educate the family about
available options.
 Maintain privacy and confidentiality of family information.
 Provide follow up care and support thorough the life span of child.

CONCLUSION

Genetic testing is a type of medical test that identifies changes in chromosomes ,gene or
proteins. The result of genetic test can help to confirm the suspected genetic condition or help
to the person to prevent the passage of genetic disorder to next generation.
BIBLIOGRAPHY:

1. Black.M.Joyce (2005), “Medical Surgical Nursing”, 7th edition, Elsevier publication, New
Delhi, Page No : 2042 – 2044.

2. Clark and Kumar (2005), “Clinical Medicine” 6th edition, Elsevier Saunders publication,
New Delhi, Page: 1204.

3. Suddarth’s & Brunner (1996), “Text Book of Medical Surgical Nursing”, 8th edition
Lippincott publication, page No: 1698 – 1699.

4. Vivian Rose Ramsden (1999), “Manual on Nursing Principle & Practice”, 1st edition
Omayalachi College of Nursing, Avadi, Page No: 179-181 5. Wilson Rose (2006), “Anatomy
& Physiology”, 10th edition, Churechil Livingston Elsevier publication, Page No: 149 – 15