GENETIC TESTING

INTRODUCTION
Genetic testing is a type of medical test that identifies changes in chromosomes, genes, 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
1,000 genetic tests are currently in use, and more are being developed.
Several methods can be used for genetic testing:
 Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to
identify variations or mutations that lead to a genetic disorder.
 Chromosomal genetic tests analyze 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.
 Biochemical genetic tests study the amount or activity level of proteins; abnormalities in
either can indicate changes to the DNA that result in a genetic disorder.
Genetic testing is voluntary. Because testing has benefits as well as limitations and risks, the
decision about whether to be tested is a personal and complex one. A geneticist or genetic
counsellor can help by providing information about the pros and cons of the test and discussing
the social and emotional aspects of testing.

DEFINITION:-
Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse
purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and
adults; the identification of future disease risks; the prediction of drug responses; and the
detection of risks of disease to future children.

“A process in which a person's or an embryo 's DNA is isolated and tested forthe presence of spe
cific genes.”

“Genetic testing involves examining your DNA, the chemical database that carries instructions
for your body's functions. Genetic testing can reveal changes or alterations in your genes that
may cause illness or disease.”

TYPES OF GENETIC TESTING:-

Genetic testing is "the analysis of chromosomes (DNA), proteins, and certain metabolites in
order to detect heritable disease-related genotypes, mutations, phenotypes, orkaryotypes for
clinical purposes."It can provide information about a person's genes and chromosomes
throughout life. Available types of testing include:
 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—millions of babies are tested
each year in the United States. All states currently test infants for phenylketonuria (a
genetic disorder that causes mental illness if left untreated)
and congenital hypothyroidism (a disorder of the thyroid gland).
 Diagnostic testing: Diagnostic testing is used to diagnose 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 mutations and symptoms.
Diagnostic testing can be performed 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 disease.

 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
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 like cystic fibrosis.

 Preimplantation testing. Also called preimplantation genetic diagnosis, this test may be
used when you attempt to conceive a child through in vitro fertilization. With in vitro
fertilization, eggs are removed from a woman and sperm are collected from a man. The
eggs are then fertilized with the sperm outside the body to create embryos. The embryos
are then screened for genetic abnormalities. Embryos without abnormalities are
implanted in the uterus in hopes of achieving pregnancy.

 Prenatal diagnosis: Used to detect changes in a foetus’s genes or chromosomes before

birth. This type of testing is offered to couples with an increased risk of having a baby
with a genetic or chromosomal disorder. In some cases, prenatal testing can lessen a
couple's uncertainty or help them decide whether to abort the pregnancy. It cannot
identify all possible inherited disorders and birth defects, however.

 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. Predictive testing can identify mutations that increase a person's chances of
developing disorders with a genetic basis, such as certain types of cancer.
 Pharmacogenetics: This type of genetic testing may help determine what medication
and dosage will be most effective and beneficial for you.
Non-diagnostic testing includes

 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).

 Parental testing: This type of genetic test uses special DNA markers to identify the same
or similar inheritance patterns between related individuals. Based on the fact that we all
inherit half of our DNA from the father, and half from the mother, DNA scientists test
individuals to find the match of DNA sequences at some highly differential markers to
draw the conclusion of relatedness.

 Research testing: Research testing includes finding unknown genes, learning how genes
work and advancing our understanding of genetic conditions. The results of testing done
as part of a research study are usually not available to patients or their healthcare
providers.

PURPOSE

 During pregnancy, a baby's cells can be studied for certain genetic disorders orchr
omosomal problems such as Down syndrome.

 Prior to becoming pregnant, couples who are having difficulty conceiving a child
or who have suffered multiple miscarriages may be tested to see if a genetic
cause can be identified.

 A genetic disease may be diagnosed at birth by doing a physical evaluation of

the baby and observing characteristics of the disorder. Genetic testing can help to
Confirm the diagnosis made by the physical evaluation. In addition, genetic
testing is used routinely on all newborns to screen for certain genetic diseases
that can affect a newborn baby's health shortly after birth.

 There are several genetic diseases and conditions in which the symptoms do
not occur until adulthood. One such example is Huntington's disease. This is a
serious disorder affecting the way in which individuals walk, talk and function on
a daily basis. Genetic testing may be able to determine if someone at risk will
Infect develop the disease.
PRECAUTIONS
 A genetic counselor reviews the person's family history and medical records and
the reason for the test. The counsellor explains the likelihood that the test will
detect all possible causes of the disease in question (known as the sensitivity of
the test), and the likelihood that the disease will develop if the test is positive
(known as the positive predictive value of the test).

 Learning about the disease in question, the benefits and risks of both a positive
and a negative result, and what treatment choices are available if the result is
positive, will help prepare the person undergoing testing. During the genetic
counseling session, the individual interested in genetic testing will be asked to
consider how the test results will affect his or her life, family, and futuredecisions.

 After this discussion, the person should have the opportunity to indicate in
writing that he or she gave informed consent to have the test performed,verifying
that the counselor provided complete and understandable information.

PREPARATION

Before undergo genetic testing, gather as much information as about family's medical history.
Then, talk with doctor or a genetic counsellor about personal and family medical history. This
can help better understand risk factors. Discuss questions or concerns about genetic testing at
that meeting. Also, talk about options, depending on the results of the test.

If being tested for a genetic disorder that runs in families, may want to consider discussing;
decision to undergo genetic testing with family member. Having these conversations before
testing can give a sense of how family might respond to test results and how it will affect them.

Doctor, medical geneticist or nurse practitioner may administer a genetic test. depending on the
type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent
to a lab for analysis.

 Blood sample. A member of health care team obtains the sample by inserting a needle into a
vein in arm. For newborn screening tests, a blood sample is taken by pricking baby's heel.
 Cheek swab. In some situations, a swab sample from the inside of cheek is collected for
genetic testing.
 Amniocentesis. This prenatal genetic test relies on a sample of the amniotic fluid. During
amniocentesis, doctor inserts a thin, hollow needle through abdominal wall and into uterus. A
small amount of amniotic fluid is then withdrawn into a syringe, and the needle is removed.
 Chorionic villus sampling. For this prenatal genetic test, doctor takes a tissue sample from
the placenta. Depending on situation, the sample may be taken with a tube (catheter) through
cervix or through abdominal wall and uterus using a thin needle.

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 until thebleeding stops red
ues bruising. Warm packs to the puncture site relieve discomfort.

 Chorionic villus sampling, amniocentesis and bone marrow procedures are done
under a physician's supervision. The person is asked to rest after the procedure and
watched for weakness and signs of bleeding.

RISKS
 Collection of amniotic fluid and chorionic villus sampling, have the risk of
miscarriage, infection, and bleeding.

 After bone marrow collection, the puncture site may become tender and theperson's t
emperature may rise. These are signs of a possible infection.

 A genetic test result may also be inconclusive, meaning no definitive result canbe give
n to the individual or family. This may cause the individual to feel moreanxious and fru
strated and experience psychological difficulties.

RESULTS

Positive results

If the genetic test result is positive, that means the genetic alteration that was being tested for was
detected. a positive 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, doctor or a genetic
counsellor can help determine to child's risk of actually developing the disease. The test results
can also provide information to consider and the partner make family planning decisions.

If you were having gene testing to determine if you might develop a certain disease, a positive
test doesn't necessarily mean you will get that disorder. For example, having a breast cancer gene
(BRCA1 or BRCA2) means you are at high risk of developing breast cancer at some point in
your life, but it doesn't indicate with certainty that you will get breast cancer. However, there are
some conditions, such as Huntington's disease, for which having the altered gene does indicate
that the disease will eventually develop.

In some cases, to make lifestyle changes that may decrease risk of developing a disease.

Negative results

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

Even if you don't have the genetic alteration, that doesn't necessarily mean you will never get the
disease. For example, people who don't have a breast cancer gene (BRCA1 or BRCA2) can still
develop breast cancer. Also, genetic testing may not be able to detect all genetic defects.

Inconclusive results

In some cases, a genetic test may not be able to provide helpful information about the gene in
question. Everyone has variations in the way genes appear (polymorphisms), and often, these
variations don't affect your health. But sometimes it can be difficult to distinguish between a
disease-causing gene alteration and a harmless gene variation. In these situations, follow-up
testing may be necessary.

No matter what the results of your genetic testing, talk with your doctor or genetic counsellor
about questions or concerns you may have. This will help you understand what the results mean
for you and your family.
CONCLUSION:-

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

SUMMARY:-

Genetic testing is a type of medical test that identifies changes in chromosomes, gene, or
proteins. In that we can see the definition, different types of genetic tests, and preparation to
client for collecting the sample and their result in that positive result, negative result, and
inconclusive results.
BIBLIOGRAPHY:-

Jump up^ "Genetic Testing: Medline Plus". Nlm.nih.gov. Retrieved 2011-06-07.

Holtzman NA, Murphy PD, Watson MS, Barr PA (October 1997). "Predictive genetic testing: from basic
research to clinical practice". Science 278 (5338): 602–
5.doi:10.1126/science.278.5338.602. PMID 9381169.

Roberto Andorno, "The right not to know: an autonomy-based approach", Journal of Medical Ethics, 2004,
30(5): 435–439.

Shawna Williams and Gail Javitt, "Direct-to-consumer genetic testing: empowering or endangering the
public?," The Genetics and Public Policy Centre, July 25, 2006 (updated 6/15/2007)
 INDEX
S.NO CONTENT PAGE NO

1. INTRODUCTION 1

2. DEFINITION 1

3. TYPES OF GENETIC TESTING 1-3

4. PURPOSE 3

5. PRECAUSIONS 4

6. PREPARATION 3-4

7. AFTERCARE 4

8. RISK 4

9. RESULTS 4-5

10. CONCLUSION 6

11. SUMMARY 6

12. BIBLIOGRAPHY 7
 SEMINAR
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GENETIC TESTING

SUBMITTED TO: - SUBMITTED BY:-

MRS. LITTIN SUNNY MISS. PRIYANKA PATEL

M.SC. NURSING LECTURER M.SC.NURSING 1ST YEAR

MEDICAL SURGICAL NURSING ADESWER NURSIN INSTITUE

ADESHWER NURSING INSTITUTE JAGDALPUR.

JAGDALPUR.

SUBMITTED ON:-