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GENETIC
TESTING
Manisha Thakur
Nursing tutor
Child Health Nursing
INTRODUCTION
• The impact of genetic diseases on health care systems, and
society overall, is substantial. Diseases with a genetic
component account for a significant proportion of disease
burden, and additionally cases of reproductive failure
(infertility, miscarriage etc).
• It is estimated that almost 8% of individuals under the age of 25
years may be diagnosed with a genetic condition and over 30%
of childhood hospital admissions have a disorder that is, at least
partly, genetically determined.
Definition
• 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.
REASONS FOR GENETIC TESTING
• Finding genetic disease in unborn child
• Finding out if people carry genes for a disease and
might pass it on to their children.
• Screening embryos for disease.
• Testing for genetic disease in adult before they cause
symptoms.
• Making a diagnosis in a person who has disease
symptoms
• Figuring out the type or dose of a medicine that is best
for a certain person.
Types of genetic tests
• Newborn screening: Newborn screening
is used just after birth to identify genetic
disorders that can be treated early in life.
Test infants for phenylketonuria (a genetic
disorder that causes intellectual disability
if left untreated) and congenital
hypothyroidism (a disorder of the thyroid
gland).
• Diagnostic testing: Diagnostic testing is
used to identify or rule out a specific
genetic or chromosomal condition.
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.
Cont..
• 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 .
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
fetus'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.
Cont…
• Preimplantation testing:m Preimplantation testing, also called
preimplantation genetic diagnosis (PGD), It is used to detect
genetic changes in embryos that were created using assisted
reproductive techniques such as in-vitro fertilization. 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.
• Forensic testing: forensic testing uses DNA sequences to
identify an individual for legal purpose.
• Research testing: research testing involves finding unknown
genes, learning how genes work and advancing our
understanding of genetic conditions.
CONT…
• Susceptibility / Predictive testing: Susceptibility testing helps
determine the likelihood of developing a disease or
complication if a specific genetic alteration is present.
Susceptibility testing is not a guarantee that disease will
develop, but it is a valuable tool in risk assessment and in
preventive management (e.g., about 3% of BRCA1 mutation
carriers will develop breast cancer by the age of 30, but by age
70, about 85% of women with a BRCA1 mutation will have
developed breast cancer
Results of genetic tests mean
• The results of genetic tests are not always straightforward,
which often makes them challenging to interpret and explain.
Therefore, it is important for patients and their families to ask
questions about the potential meaning of genetic test results
both before and after the test is performed. When interpreting
test results, healthcare professionals consider a person’s medical
history, family history, and the type of genetic test that was
done.
• A positive test result means that the laboratory found a change
in a particular gene, chromosome, or protein of interest.
Depending on the purpose of the test, this result may confirm a
diagnosis, indicate that a person is a carrier of a particular
genetic mutation, identify an increased risk of developing a
disease (such as cancer) in the future, or suggest a need for
Cont…
• A negative test result means that the laboratory did not find a
change in the gene, chromosome, or protein under
consideration. This result can indicate that a person is not
affected by a particular disorder, is not a carrier of a specific
genetic mutation, or does not have an increased risk of
developing a certain disease.
• In some cases, a test result might not give any useful
information. This type of result is called uninformative,
indeterminate, inconclusive, or ambiguous. Uninformative test
results sometimes occur because everyone has common, natural
variations in their DNA, called polymorphisms, that do not
affect health.
Risks and limitations of genetic testing
• The physical risks associated with most genetic tests are very small,
particularly for those tests that require only a blood sample or buccal
smear (a method that samples cells from the inside surface of the
cheek).
• The procedures used for prenatal testing carry a small but real risk of
losing the pregnancy (miscarriage) because they require a sample of
amniotic fluid or tissue from around the fetus.
• Many of the risks associated with genetic testing involve the
emotional, social, or financial consequences of the test results.
• People may feel angry, depressed, anxious, or guilty about their
results. In some cases, genetic testing creates tension within a family
because the results can reveal information about other family
members in addition to the person who is tested.
• The possibility of genetic discrimination in employment or insurance
is also a concern.
ETHICAL LEGALAND SOCIAL ISSUES
IN GENETIC TESTING
Consent: Patient need to sufficiently informed about the
implication of genetic screening before they can provide
informed consent. The voluntary nature of the screening process
must be emphasized.
Counseling: To reduce potential psychological distress,
counseling should be available to provide information about
genetic risk and explain choices regarding genetic testing and
further management.
The risk of stigma: Misunderstanding of the genetic risk of
developing disease can increase stigmatization. This may be
around life expectancy, lifestyle choices, or decision about having
Cont…
• Confidentiality: Like other medical
information, result from genetic
testing are considered confidential,
under normal practice, the doctor
patient relationship protect against
disclosure of genetic information.
• Disclosure to family members:
Doctors face a dilemma when
reporting the results of genetic
screening. Standard medical practice
is based on the principles that doctor’s
should focus on their patient and that
medical information should remain
confidential.
Role of nurse
• The nurse can assist client as they weigh choice regarding
genetic testing.
• The nurse should alert client of their rights to make informed
consent prior to genetic testing.
• All genetic test should be voluntary and it is responsible of the
nurse that consent form should include risk and benefit of the
test, including physical harm.
• Nurse need to ensure client confidentiality and privacy of tests.
• Nurse should address psychological, social and economic issues
of person and family background of genetic testing.
THANKYOU

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GENETIC TESTING:

  • 2. INTRODUCTION • The impact of genetic diseases on health care systems, and society overall, is substantial. Diseases with a genetic component account for a significant proportion of disease burden, and additionally cases of reproductive failure (infertility, miscarriage etc). • It is estimated that almost 8% of individuals under the age of 25 years may be diagnosed with a genetic condition and over 30% of childhood hospital admissions have a disorder that is, at least partly, genetically determined.
  • 3. Definition • 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.
  • 4. 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.
  • 5. REASONS FOR GENETIC TESTING • Finding genetic disease in unborn child • Finding out if people carry genes for a disease and might pass it on to their children. • Screening embryos for disease. • Testing for genetic disease in adult before they cause symptoms. • Making a diagnosis in a person who has disease symptoms • Figuring out the type or dose of a medicine that is best for a certain person.
  • 6. Types of genetic tests • Newborn screening: Newborn screening is used just after birth to identify genetic disorders that can be treated early in life. Test infants for phenylketonuria (a genetic disorder that causes intellectual disability if left untreated) and congenital hypothyroidism (a disorder of the thyroid gland). • Diagnostic testing: Diagnostic testing is used to identify or rule out a specific genetic or chromosomal condition. 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.
  • 7. Cont.. • 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 . 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 fetus'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.
  • 8. Cont… • Preimplantation testing:m Preimplantation testing, also called preimplantation genetic diagnosis (PGD), It is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. 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. • Forensic testing: forensic testing uses DNA sequences to identify an individual for legal purpose. • Research testing: research testing involves finding unknown genes, learning how genes work and advancing our understanding of genetic conditions.
  • 9. CONT… • Susceptibility / Predictive testing: Susceptibility testing helps determine the likelihood of developing a disease or complication if a specific genetic alteration is present. Susceptibility testing is not a guarantee that disease will develop, but it is a valuable tool in risk assessment and in preventive management (e.g., about 3% of BRCA1 mutation carriers will develop breast cancer by the age of 30, but by age 70, about 85% of women with a BRCA1 mutation will have developed breast cancer
  • 10. Results of genetic tests mean • The results of genetic tests are not always straightforward, which often makes them challenging to interpret and explain. Therefore, it is important for patients and their families to ask questions about the potential meaning of genetic test results both before and after the test is performed. When interpreting test results, healthcare professionals consider a person’s medical history, family history, and the type of genetic test that was done. • A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein of interest. Depending on the purpose of the test, this result may confirm a diagnosis, indicate that a person is a carrier of a particular genetic mutation, identify an increased risk of developing a disease (such as cancer) in the future, or suggest a need for
  • 11. Cont… • A negative test result means that the laboratory did not find a change in the gene, chromosome, or protein under consideration. This result can indicate that a person is not affected by a particular disorder, is not a carrier of a specific genetic mutation, or does not have an increased risk of developing a certain disease. • In some cases, a test result might not give any useful information. This type of result is called uninformative, indeterminate, inconclusive, or ambiguous. Uninformative test results sometimes occur because everyone has common, natural variations in their DNA, called polymorphisms, that do not affect health.
  • 12. Risks and limitations of genetic testing • The physical risks associated with most genetic tests are very small, particularly for those tests that require only a blood sample or buccal smear (a method that samples cells from the inside surface of the cheek). • The procedures used for prenatal testing carry a small but real risk of losing the pregnancy (miscarriage) because they require a sample of amniotic fluid or tissue from around the fetus. • Many of the risks associated with genetic testing involve the emotional, social, or financial consequences of the test results. • People may feel angry, depressed, anxious, or guilty about their results. In some cases, genetic testing creates tension within a family because the results can reveal information about other family members in addition to the person who is tested. • The possibility of genetic discrimination in employment or insurance is also a concern.
  • 13. ETHICAL LEGALAND SOCIAL ISSUES IN GENETIC TESTING Consent: Patient need to sufficiently informed about the implication of genetic screening before they can provide informed consent. The voluntary nature of the screening process must be emphasized. Counseling: To reduce potential psychological distress, counseling should be available to provide information about genetic risk and explain choices regarding genetic testing and further management. The risk of stigma: Misunderstanding of the genetic risk of developing disease can increase stigmatization. This may be around life expectancy, lifestyle choices, or decision about having
  • 14. Cont… • Confidentiality: Like other medical information, result from genetic testing are considered confidential, under normal practice, the doctor patient relationship protect against disclosure of genetic information. • Disclosure to family members: Doctors face a dilemma when reporting the results of genetic screening. Standard medical practice is based on the principles that doctor’s should focus on their patient and that medical information should remain confidential.
  • 15. Role of nurse • The nurse can assist client as they weigh choice regarding genetic testing. • The nurse should alert client of their rights to make informed consent prior to genetic testing. • All genetic test should be voluntary and it is responsible of the nurse that consent form should include risk and benefit of the test, including physical harm. • Nurse need to ensure client confidentiality and privacy of tests. • Nurse should address psychological, social and economic issues of person and family background of genetic testing.