1. GENETIC TESTING
P R E S E N T E D B Y
M R S A R I FA T N
F I R S T Y E A R M . S c N U R S I N G
M I M S C O L L E G E O F N U R S I N G

2. INTRODUCTION
 Genomics plays a significant role in every clinical
facet of health care. Whereas genetics refers to the
study of a single gene, genomics refers to the
study of all genes in a particular organism,
including their interaction with each other
and the environment
 Genomics is a broader term and includes genetics,
although the terms often are used interchangeably
when talking about the science of heredity.

3. GENETIC TESTING

4. TERMINOLOGY
 GENE:
A region of DNA that encodes function. Or A set of
segments of nucleic acid that contains the information
necessary to produce a functional RNA product in a
controlled manner
 CHROMOSOME
A molecular "package” for carrying DNA in Nucleus
of the cells
 GENOME:
The entire complement of genetic material in the
chromosome set of an organism, virus or organelle

5. TERMINOLOGY…………
 ALLELE:
One of multiple alternative forms of a single gene.
 GENOTYPE:
The complement of alleles present in a particular
individual's genome that give rise to the individual's
phenotype
 PHENOTYPE:
The observable physical or behavioral traits of
an organism, largely determined by the organism's
genotype

6. TERMINOLOGY…………
 KARYOTYPE:
Is the number and appearance of chromosomes
in the nucleus of a cell

7. DEFINITION : Genetic testing
 Genetic testing is defined as “examining a
sample of blood or other body fluids or tissue
for bio-chemical chromosomal, or genetic
markers that indicate the presence or
absence of genetic disease
 A genetic testing is analyzing a DNA to look
for genetic alteration that may indicate an
increased risk for developing a specific
disease or disorder

8. DEFINITION…….
 It is also defined as type of medical test,
identifies changes in chromosomes, genes or
proteins
 Genetic Screening also known as DNA
testing, It is the analysis of chromosomes
(DNA), proteins and certain metabolites in
order to detect the heritable disease related
genotype, mutations or Karyotypes for
clinical purposes

9. PURPOSES OF 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.

10. PURPOSES……….
 Conformational diagnosis of a symptomatic
individual.
 Forensic or identity testing.
 Pre symptomatic testing for predicting adult onset
disorders such as Huntington’s chorea.
 It allows the genetic disorder of vulnerabilities to
inherited diseases.
 It can be used to determine a child potentiality or
person ancestry.

11. INDICATIONS
 To confirm a specific diagnosis in a symptomatic
individual.
 To provide early recognition of a disease, before
signs & symptoms occur, for which effective
interventions & therapy exist.
 To identify carriers of a genetic disease for the
purpose of maximizing parenthood planning options
e.g Tay-Saches disease.

12. INDICATIONS …….
 To ascertain if a fetus has a clinically significant
genetic disorder.
 Figuring out the types or dose of medicine that is
best for a certain person.
 To obtain population data on frequency, spectrum &
natural history of genetic variations not currently
known to be associated with disease

13. RECOMMENDATIONS FOR GENETIC
TESTING
 Genetic tests are useful to
 Diagnose disease,
 Predict risk of future disease,
 Inform reproductive decision making, and
 Manage patient care.

14. CATEGORIES
OF GENETIC
TESTS
Diagnostic
testing
Prenatal
testing
Newborn
screening
Pre implantation
testing
Carrier
testing
Presymptom
atic and
predictive
testing

15. CATEGORIES OF GENETIC TESTS
 Diagnostic testing
 Used to establish a diagnosis of a genetic disorder in an individual
who is symptomatic or has had a positive screening test
 Prenatal testing
 Testing to identify a fetus with a genetic disease or condition.
Some prenatal testing is offered routinely; other testing may be
initiated due to family history or maternal factors.
 Newborn screening
 Testing of a newborn to identify babies at risk for a condition that
may require immediate initiation of treatment to prevent death or
disability.

16. CATEGORIES OF GENETIC TESTS
 Pre implantation testing
 Following in vitro fertilization (IVF), testing to identify
embryos with a particular genetic condition
 Carrier testing
 Testing in an asymptomatic individual to identify carrier status
for a genetic condition.

17. CATEGORIES OF GENETIC TESTS
 Presymptomatic and predictive testing
 Offered usually to asymptomatic individuals to detect genetic
conditions that occur later in life.
 Presymptomatic testing detects mutations that, if present, are
likely or certain to eventually Cause symptoms (an example is
Huntington disease).
 Predictive or predispositional testing detects mutations that
increase the likelihood that symptoms will develop (such as BRCA1
and BRCA2 testing).

18. TYPES
 There are different tests are available , new ones are
coming out all time. It is helpful to diagnose
disorders in children and adults
 What type of a test a person should undergo
depends on the type of disorder being looked for and
what is known about a gene (location in the genome
or its protein ); in most cases, a genetic linkage study
is passed down to the family (testing close relatives)

19. TYPES …………….
 Genetic testing can be broadly divided into two
categories:
•Diagnostic testing
•Screening

20. TYPES …………….
 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.

21.  Diagnostic testing
 NEW BORN SCREENING
 CARRIER TESTING
 PRE IMPLANTATION GENETIC DIAGNOSIS
 PREDICTIVE AND PRESYMPTOMATIC TESTING
 PRENATAL DIAGNOSIS
 PARENTAL TESTING
TYPES …………….

22. Screening
 ULTRASONOGRAPHY
 AMNIOCENTHESIS
 CHORIONIC VILLI SAMPLING
 TRIPLE OR QUADRIPLE SCREEN
 FETAL NUCHAL TRANSLUCENCY (FNT)
 PERCUTANEOUS UMBULICAL CORD SAMPLING
 FETOSCOPY
TYPES …………….

23.  Screening
 MATERNAL BLOOD SAMPLING FOR FETAL CELLS
 MSAFP
 MATERNAL SERUM BETA-HCG
 FLUORESCENCE IN-SITU HYBRIDISATION(FISH)
 MATERNAL SERUM ESTRIOL
TYPES …………….

24. DIAGNOSTIC TESTING

25. NEW BORN SCREENING

26. NEW BORN SCREENING……….
New born screening is used just after birth to
identify the genetic disorders that can be
treated early in life. All states currently test the
infants for penylketonuria (a genetic disorder that
causes mental illness if left untreated) and congenital
hypothyroidism (a disorder of the thyroid gland).

27. NEW BORN SCREENING……….
 Blood screening performed shortly after birth, used
to identify many life threatening genetic illnesses
that have no immediate visible effect but can lead to
physical problems, intellectual disability and even
death.
 Indications:
 Identification of new born so that treatment can begin early to
prevent impact of the disorder, such as severe cognitive
impairment or death

28. CARRIER TESTING

29. 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 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 like cystic fibrosis.

30. PRE IMPLANTATION GENETIC
DIAGNOSIS

31. PRE IMPLANTATION GENETIC
DIAGNOSIS……….
PGD is a procedure used prior to implantation to
help identify genetic defects within embryos. This
serves to prevent certain genetic diseases or
disorders from being passed on to the child. The
embryos Investigated in PGD are usually
created during the process of in vitro
fertilization (IVF).
 Diagnostic accuracy in PGD is high(98%) both for
cytogenic disorders & single gene disorders.

32. PREDICTIVE AND PRE-SYMPTOMATIC
TESTING

33. PREDICTIVE AND PRE-SYMPTOMATIC
TESTING ……………
Predictive and pre-symptomatic types of testing are
used to detect gene mutations associated with disorders
that appear after birth, often late 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 in themselves at the time of
testing
 Presymptomatic testing can determine whether a person
will develop a genetic disorder such as hemochromatosis
(an iron overload disorder) before any signs or symptoms
appear.

34. PREDICTIVE AND PRE-SYMPTOMATIC
TESTING…………
 The result of predictive and presymptomatic testing
can provide information about a person’s risk of
developing a specific disorder and help with making
decisions about medical care.

35. PRENATAL DIAGNOSIS
Prenatal diagnosis employs a variety of
techniques to determine the health and condition of
an unborn fetus. Used to detect changes in a fetus’s
genes or chromosomes before birth.
 Specifically prenatal diagnosis is helpful for,
 Managing the remaining weeks of the pregnancy.
 Determining the outcome of the pregnancy.
 Planning for problems that may occur in the newborn infant.
 Deciding whether to continue the pregnancy.

36. 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

37. SCREENING

38. ULTRASONOGRAPHY

39. ULTRASONOGRAPHY…………
This is a non–invasive procedure that is
harmless to both the fetus and the mother. A
transducer is placed in contact with the
mother’s abdomen and high frequency sound
waves are directed at the fetus. The sound
waves are reflected back through the tissues
and recorded and displayed in real time on a
screen
 Indication: Screened for structural malformations

40. ULTRASONOGRAPHY
 The developing embryo can first be visualized at
about 6 week’s gestation.
 Recognition of the major internal organs and
extremities if any abnormality can be best
accomplished between 16 to 20 weeks gestation
 Although an ultrasound examination can be quite
useful to determine the size and position of the fetus,
the size and the position of the placenta, the amount
of amniotic fluid and the appearance of fetal
anatomy

41. ULTRASONOGRAPHY………..
 There are limitations to this procedure. Subtle
abnormalities may not be detected until later in
pregnancy or may not be detected at all e.g. Down’s
syndrome (Trisomy 21).

42. AMNIOCENTHESIS
.

43. AMNIOCENTHESIS………..
This is an invasive procedure in which a needle is
passed through the mother’s lower abdomen into the
amniotic cavity inside the uterus.
 For prenatal diagnosis, most amniocenteses are
performed between 14 and 20 weeks gestation. Within
the amniotic fluid are fetal cells (mostly derived from
fetal skin) which can be grown in culture for
chromosome analysis, biological analysis and molecular
analysis
 In the third trimester of pregnancy the amniotic fluid can
be analyzed for determination of fetal lung maturity

44. AMNIOCENTHESIS……….
 INDICATION: Early in pregnancy, amniocentesis
is used for diagnosis of chromosomal and other fetal
problems such as:
 Trisomy 21 (Down syndrome)
 Trisomy 18 (Edwards syndrome)
 Trisomy 13 (Patau syndrome)
 Neural tube defects (anencephaly and Spina bifida) by alpha-
fetoprotein levels.
 It predicts fetal lung maturity, which is inversely
correlated to the risk of infant RDS.

45. CHORIONIC VILLI SAMPLING

46. CHORIONIC VILLI SAMPLING……….
In this procedure, a catheter is passed via the
vagina through the cervix and into the developing
placenta under ultrasound guidance.
 Alternative approaches are Transvaginal and Trans-
abdominal. The introduction of the catheter allows
sampling of cells from the placental chorionic villi.

47. CHORIONIC VILLI SAMPLING……
 The most common test employed on cells obtained
by CVS is chromosome analysis to determine the
Karyotypes of the fetus.
 The cells can also be grown in culture for
biochemical or molecular biologic analysis.
 CVS can be safely performed between 9 to 12 weeks
gestation

48. CHORIONIC VILLI SAMPLING………
INDICATION
 Abnormal first trimester screen results
 Increased nuchal translucency or other abnormal
ultrasound findings.
 Family history of a chromosomal abnormality or other
genetic disorder
 Parents are known carriers for a genetic disorder
 Advanced maternal age(AMA) (maternal age above 35).
AMA is associated with increase risk of Down's syndrome
and at age 35, risk is 1:400. Screening tests are usually
carried out first before deciding if CVS should be done.

49. TRIPLE/QUADRUPLE SCREEN

50. TRIPLE/QUADRUPLE SCREEN….
 A maternal serum laboratory screening test that
measures the level of three substances made by the
developing baby and placenta:
 Α- fetoprotein (AFP),
 Human chorionic gonadotropin (HCG), and
 Unconjugated estriol (Ue3).
 Dimeric inhibin A : has been added to make the
quadruple test.
 The addition of Dimeric inhibin A increases the
detection rate of Down syndrome and Trisomy 18
in the quadruple screen.

51. QUADRUPLE SCREEN…
 Indication:
It is a screening test for lowrisk pregnantwomen to
determine pregnancies at an increased risk for,
 Openneural tube defects
 Down syndrome, and
 Trisomy 18 (Edwards syndrome).

52. FETAL NUCHAL
TRANSLUCENCY(FNT)

53. FETAL NUCHAL
TRANSLUCENCY(FNT)……….
 A nuchal scan or nuchal translucency (NT)
scan/procedure is a sonographic prenatal screening scan
(ultrasound) to detect cardiovascular abnormalities in a
fetus.
 It helps to identify higher risks of Down syndrome,
Trisomy 13(Patau syndrome), Trisomy 18 and
Turners syndrome(45X).
 The ultrasound assesses the amount of the fluid behind
the neck of a fetus (known as the nuchal fold).
 Increased fluid increases the risk of a chromosomal
abnormality

54. FETAL NUCHAL
TRANSLUCENCY(FNT)………..
 During this early ultrasound other markers may be
looked at such as presence of,
 Nasal bones (in Down syndrome hypoplasia or
absence of the nasal bones may be noted)
 Short femur or humerus increases the risk of
Trisomy
 Echogenic foci (bright spots) in the heart can
increase the risk of Down syndrome
 Echogenic bowl (bowl looks bright and white) can be
associated with chromosomal abnormalities.

55. FETAL NUCHAL
TRANSLUCENCY(FNT)………..
 A serum blood test is performed to determine
the level of two hormones, PAPP-A and β-HCG.
Using a combination of the ultrasound and blood
test, the risk of having a baby with Down syndrome
is predicted
 Indication
 Any pregnant woman presenting by 11 to 14 weeks gestation
can be screened. Particularly for women with increased risk or
desired screening for Down syndrome, Trisomy 13,
Trisomy 18, or Turners syndrome

56. PERCUTANEOUS UMBILICAL BLOOD
SAMPLING

57. PERCUTANEOUS UMBILICAL BLOOD
SAMPLING…..
 An ultrasound guided needle is inserted through the
abdominal and uterine wall to the umbilical cord and
a sample of blood is retrieved and sent to the
laboratory for analysis.
 Procedure is similar to amniocentesis but requires a
higher level of expertise and experience
 Indication
 It is usually done when diagnostic information cannot be
obtained through amniocentesis, CVS or ultrasound.

58. FETOSCOPY

59. FETOSCOPY……
 It is the endoscopic procedure that allows direct
visualization of the fetus through the insertion of a
tiny flexible instrument called fetoscope.
 It is inserted through the abdominal wall and into
the uterine cavity. Ultrasound is used to guide the
placement of the scope
 Direct visualization can evaluate the fetus for severe
congenital anomalies.

60. FETOSCOPY………
 Fetal blood sample from the umbilical cord can be
obtained and tested for congenital blood disorders
such as hemophilia and sickle cell anemia.
 Fetal tissue samples (usually skin) can be collected
and tested for genetic diseases
 Indication
 It is indicated for any woman at risk for delivering a baby with
significant congenital anomalies
 Used to perform corrective surgery (e.g shunt placement) on
the fetus

61. MATERNAL BLOOD SAMPLING FOR
FETAL CELLS

62. MATERNAL BLOOD SAMPLING FOR
FETAL CELLS……….
 This is a new technique that makes use of the
phenomenon of the fetal blood cells gaining access to
maternal circulation through the placental villi.
 The fetal cells can be stored out and analyzed by a
variety of techniques to look for particular DNA
sequences.
 Fluorescence in-situ hybridization (FISH) is one technique
that can be applied to identify particular chromosomes of the
fetal cells recovered from maternal blood and diagnose
Aneuploid conditions such as the Trisomies and
Monosomy X.

63. ALPHA- FETOPROTEIN (AFP) TEST
 The developing fetus has two major blood proteins –
Albumin and Alpha-fetoprotein (AFP). Since
adults typically have only albumin in their blood.
MSAFP is a screening test that examines the level of
alpha-fetoprotein in the mother’s blood during
pregnancy.
 A sample of the mothers blood is taken to measure
the amount of special protein produced by the fetus

64. ALPHA- FETOPROTEIN (AFP) TEST ….
 This is not a diagnostic test. It is often part of the
triple screen test that assesses whether further
diagnostic testing may be needed. Blood is drawn
from veins in the mother’s arm and sent off to a
laboratory for analysis. Results are usually returned
between one and two weeks
 If there is neural tube defect in the fetus,
then there is means of escape of more AFP
into amniotic fluid

65. ALPHA- FETOPROTEIN (AFP) TEST ….
 Neural tube defects include anencephaly (failure of
closure at the cranial end of the neural tube) and
Spina bifida (failure of closure at the caudal end of
the neural tube).

66. MATERNAL SERUM BETA-HCG
 This is most commonly used as a test for pregnancy.
Beginning at about a week following conception and
implantation of the developing embryo into the
uterus, the trophoblast will produce enough
detectable beta-HCG to diagnose pregnancy.
 The beta-HCG can also be quantified in serum from
maternal blood, and this can be useful early in
pregnancy when threatened abortion or ectopic
pregnancy suspected because the amount of beta-
HCG will be lower than expected.

67. MATERNAL SERUM BETA-HCG………
 An elevated beta-HCG coupled with a decreased
MSAFP suggests Down syndrome.
 Very high levels of HCG suggest trophoblastic
disease (molar pregnancy).
 The absence of a fetus on ultrasonography along with
an elevated HCG suggests a hydatidiform mole

68. FLUORESCENCE IN-SITU HYBRIDISATION
(FISH)
Fish is a laboratory technique used to visualize
where a particular gene or DNA sequence is located
within a person’s genome; this enables clinical
scientists to check for specific chromosomal
alteration which may cause a genetic condition. It is
used on samples of blood, chorionic villi or other
material containing cells

69. MATERNAL SERUM ESTRIOL
• The amount of estriol in maternal serum is dependent upon a
viable fetus, a properly functioning placenta and maternal well-
being.
• substrate for estriol begins as dehydroepiandrosterone (DHEA)
made by the fetal adrenal glands
• This is further metabolized in the placenta to estriol.
• The estriol crosses to the maternal circulation and is excreted by
the maternal kidney in urine or by the maternal liver in the bile

70. MATERNAL SERUM ESTRIOL….
 The measurement of serial estriol levels in the third
trimester will give an indication of general well-being
of the fetus
 If the estriol level drops, then the fetus is threatened
and delivery may be done emergently.
 Estriol tends to be lower when Down syndrome is
present and when there is adrenal hypoplasia with
anencephaly

71. ETHICAL, LEGAL AND PSYCHO-
SOCIAL ISSUES IN GENETIC
TESTING

72. ETHICS
Branch of knowledge that deals with moral
principles, which in turn relate to principles of right,
wrong, justice and standards of behavior.

73. General Principles…
Autonomy : Patient should take decision
Beneficence: Patient should receive highest priority
and benefits
Non-maleficence : Patient should be Prevented from
any kinds of harm
Justice: Patient should be treated with fairness and
equity. Benefits and burdens of healthcare should be
distributed fairly.
 Informed choice : Patient should be fully informed of
all options, including that of not participating
 Informed consent : Patient should be fully informed
of all options, including that of not participating.

74. General Principles…
 Informed consent : Patient should be fully
informed of all options, including that of not
participating.
 Confidentiality : Patient has the right to full
confidentiality
 Universality : As human genome is
fundamentally common to all humankind, there is a
shared identity, and therefore, a shared
responsibility

75. Ethics in genetic testing …?
 Equitable access to services?
 Voluntary, or mandatory counseling?
 What about testing and screening?
 Individual and parental choices to be safeguarded?
 Full disclosure of information
 Confidentiality about information?
 Privacy of genetic information from institutional third
parties?
 Directive, or non-directive counseling?
 Non-medical use of prenatal diagnosis?
 What about research and gene therapy?

76. ETHICAL ISSUES

77. Ethical Issues in Presymptomatic Testing
 Are we better off knowing our fate?
 Respect for personal autonomy
 Informed consent
 Right “not to know”
 Reluctance to test children
 Psychological costs for those tested
 Prenatal testing for late onset disorders

78. Ethical Issues in Susceptibility Testing
 Education and counseling for those at risk
 Test interpretation can be complex
 Potential for increased monitoring and possible
treatment
 What counts as “useful information”

79. Ethical Issues in Carrier Screening/Testing
 Respect for individual’s/couples’ beliefs and values
concerning tests taken for assisting reproductive
decisions
 Mutations for certain diseases may have a higher
prevalence in certain ethnic populations raising the
issue of stigmatization
 Few choices available to those identified as
carriers (refrain from childbearing, donor egg or
sperm, PGD)
 Obligation to offer education and counseling

80. Ethical Issues in Prenatal Testing
 Respect for individual’s/couples’ beliefs and values is
crucial
 Ideology of non-directiveness is compromised by the
fact that you are offering a test for a specific disorder
 Potential for increased pressure on couples not to
have children who deviate from normal.
 Possibility of decreased tolerance and fewer
resources for those with disabilities
 Possible termination of fetus based on ambiguous
information

81. Ethical Issues in Newborn Screening
 Voluntary vs mandatory testing
 Lack of informed parental consent
 Lack of education and counseling of parents
 Technology creep-tests often added to panel without
assessing benefit to child
 Necessity for treatment and follow-up to prevent
damage
 Increasing pressure to use residual samples for
population based research raising issues of informed
consent for research

82. Ethical Issues in Newborn Screening
 Parental anxiety about false positive results
 Harm to parent child relationship by parental
misperceptions about meaning of child’s carrier
status
 Possibility that children will be subjected to needless
and potentially risky, medical interventions or
monitoring

83. General Ethical Issues Related to Genetic Testing
 Lack of knowledge
 Direct marketing of tests to consumers
 Fear of discrimination
 Insurance
 Employment
 Law Enforcement

84. LEGAL ISSUES

85. LEGAL ISSUES
 Privacy: The rights of the individuals to maintain
privacy.
 Informed consent: obtaining permission to carry out
genetic testing. One must have knowledge of the risks,
benefits, effectiveness and alternatives to testing in order
to better understand the implications of genetic testing
and exercise a choice.
 Confidentiality: this concerns the recognition that
genetic information is sensitive and should be restricted
to those authorised to receive it. Future access to a
person's genetic information should also be limited.

86. Legal protection
 Pre-Gina Federal Anti-Discrimination Laws
 Americans with Disabilities Act of 1990 (ADA)
 Health Insurance Portability and Accountability Act of 1996
(HIPAA)
 HIPAA National Standards to Protect Patients' Personal
Medical Records, Dec. 2002
 Title VII of the Civil Rights Act of 1964

87. In India and How They Apply to Genetics
 Pre-Conception and Pre-Natal Diagnostic
Techniques (PCPNDT) Act, 1994
 Enacted to stop female foeticides and arrest the declining sex
ratio in India. The act banned prenatal. sex determination
 Medical Termination of Pregnancy Act, 1971
 Which provides for the termination of certain pregnancies by
registered medical practitioners
 Indian Evidence Act, 1872, and the Code of Criminal
Procedure, 1973
 To manage science and technology issues.
 Authorizes a police officer to get the assistance of a medical
practitioner in good faith for the purpose of the investigation

88. In India and How They Apply to Genetics
 Transplantation of the human Organs Act 1994
 To establish the identity of the nearer relation ship of donor
and recipient, two-multi locus gene test is required in case of
doubt
 Indian Succession Act, 1925
 Parents denying property right-succession right and the so
called heir claiming the property right. DNA Test is on of the
best option or the only solution to establish or deny the blood
relations

89. PSYCHO-SOCIAL ISSUES

90. PSYCHO-SOCIAL ISSUES
 Alteration of self image
 Distortion of parents' perception of child
 Increased anxiety and guilt
 Altered expectations by self or others for education,
employment, and personal relationships
 Identifying other family members with late-onset
diseases
 Discrimination in employment and in obtaining
insurance
 Detection of misattributed paternity or adoption

91. Management of ethical, legal and
psychosocial is issues
 Communicating Test Results
 Genetic test results are discussed with patients in an
understandable and compassionate manner
 Results should be released only to those individuals for whom
the test recipient has given consent
 Under no circumstances should results with personal
identifiers be provided to any outside parties, including
employers, insurers, or government agencies, without the test
recipient’s written consent

92. Management of ethical, legal and
psychosocial is issues
 Direct-to-consumer Tests
 Patients should be cautious when considering direct-to-
consumer genetic testing and are encouraged to discuss this
option with their healthcare professional
 Some of these companies may play off consumer fears, offer
tests with little clinical utility, or not be properly certified or
licensed

93. Management of ethical, legal and
psychosocial is issues
 Duty to Disclose
 Healthcare providers have an obligation to the person being
tested not to inform other family members without the
permission of the person tested, except in extreme
circumstances
 If the family members may be at risk, the patient may be
encouraged to discuss test results with other family members

94. Management of ethical, legal and
psychosocial is issues
 Genetic Discrimination
 Fears of discrimination in employment and health insurance,
members of some communities often fear that genetic
information will be used to stigmatize them.
 Healthcare providers should be sensitive to the fact that some
groups may distrust the use of genetics as a health tool.

95. Management of ethical, legal and
psychosocial is issues
 Informed Consent
 To help ensure that patients understand the risks and
benefits of healthcare choices, informed consent is an
important part of the medical decision-making process. For
patients considering genetic testing,
 The following items should be carefully discussed
and understood before consent is obtained:
 Risks, limitations, and benefits of testing or not testing
 Alternatives to genetic testing
 Details of the testing process (e.g., what type of sample is
required, accuracy of test, and turn-around time)

96. Management of ethical, legal and
psychosocial is issues
 Privacy/confidentiality of test results
 The voluntary nature of testing
 Potential consequences related to results, including:
(1) Imp act on health
(2) Emotional and psychological reactions
(3) Treatment/prevention options; and
(4) Ramifications for the family

97. Management of ethical, legal and
psychosocial is issues
 Privacy
 Genetic information has enormous implications for the
individual and the family.
 The privacy of that information is a major concern to
patients—in particular, who should have or needs access to
that information.
 To protect personal genetic information and avoid its inclusion
in a patient’s medical record, some patients pay for genetic
testing out-of-pocket.

98. Management of ethical, legal and
psychosocial is issues
 Psychosocial Impact
 Every individual will respond differently to news of his/her
genetic test results, whether negative or positive.
 As there is no right or wrong response, healthcare
professionals should refrain from judgment and help the
patient understand the test results with respect to his/her own
health, available interventions or follow-up, and risks to
his/her family.
 An individual may respond to genetic information on several
levels: individual, family, or community and society.
 Referrals to genetic counselors, psychologists, or social
workers should be made as needed

99. Management of ethical, legal and
psychosocial is issues
 Reproductive Issues
 Genetic information is routinely used to inform reproductive
decisions and medical care.
 Risk factors for genetic conditions for which preconception or
prenatal genetic testing may be considered include advanced
maternal age, family history, multiple miscarriages, and drug
and alcohol exposure.
 As these procedures carry risks and benefits, parents should
carefully consider and discuss these options with a physician
or genetic counselor.
 Providers should take a nondirective stance and support the
patients’ decisions

100. Management of ethical, legal and
psychosocial is issues
 Societal Values
 Genetic information may influence one individual to
change his or her lifestyle or behavior to reduce risk
or disease severity; whereas, others may choose to
respond differently.
 Health professionals should be respectful and
sensitive to cultural and societal values and work with
the patient to define the appropriate course of action
for him/her with respect to genetic testing and follow-
up care.

101. Management of ethical, legal and
psychosocial is issues
 Test Utility
 The useful application of genetic tests will depend on the
correct interpretation of test results and their utility in guiding
medical care and treatment.
 However, for some genetic conditions, the utility of genetic test
results may be limited if treatment is unavailable or the results
are inconclusive.
 These issues should be discussed with patients or parents of
patients when a genetic test is being considered.
 Even if a test is not considered to be medically useful, a patient
or the family may still benefit from testing. Clinical guidelines
should be consulted for recommended follow-up care and
treatment

102. Management of ethical, legal and
psychosocial is issues
 Test Validity
 Several issues regarding test validity should be considered prior
to ordering a genetic test.
 The analytical and clinical validity of a test are generally
measured as test specificity, sensitivity, and predictive
value. This information should be shared with the patient as he
or she considers whether or not testing is appropriate for
him/her.
 Because most genetic tests are offered as services, they are not
approved by the Food and Drug Administration. However,
genetic tests (or any other clinical laboratory test)
should only be ordered from laboratories certified by
Clinical Laboratory Improvement Amendments
(CLIA) or another governmental certifying entity.

103. Proposed Ethical Guidelines for Genetic
Screening and Testing
 Genetic screening and testing should be voluntary,
with the exception.
 Genetic screening and testing should be preceded by
adequate information about purpose and possible
outcomes.
 Anonymous screening may be conducted after
notification of the population.
 Results should not be disclosed
 In rare cases disclosure may be best

104. Proposed Ethical Guidelines for Genetic
Screening and Testing
 Test results should be followed by genetic
counseling, particularly when they indicate the
presence mutation or genetic condition.
 If treatment or prevention exists or is available, this
should be offered with a minimum of delay.
 Newborn screening should be mandatory and free of
charge

105. NURSES ROLE

106. NURSES ROLE
 Family Risk Assessment
 Genetic Family History
 Pedigree : Nurses and all other health professionals should
know how to collect a three-generation family history, record
the history in a pedigree, and “think genetic.”
 Genetic Physical Assessment
 Major and Minor Anomalies
 Genetic Testing Issues of Minors

107. NURSES ROLE
 The nurses are responsible for alerting clients of
their rights to make an informed decision prior to
any genetic testing with considering of special
circumstances arising from the Family, culture and
community life.
 All genetic testing should be voluntary and it is the
nurse’s responsibility to ensure that the consent
process include discussion of the risk and benefit of
the test.

108. NURSES ROLE
 Nurses need to ensure client’s confidentiality and privacy
of genetic testing.
 Nurses should address psychological, social and
economic issues of person and family undergoing for
genetic testing
 Take informed written consent from patient (primary
health care providers responsibility).
 Administer prophylactic antibiotic in invasive tests as per
institution’s policy.
 Offer counseling services as per need of the patient and
family.
 Inform about follow-up and test result availability

109. GENETIC COUNCELLING

110. INTRODUCTION
 Counseling is a process of communicating between
two or more persons who meet to solve a problem,
resource a curse or take decision on various matters.
It is not a one way process where in the counseling
tells the client what to do nor it is a forum for
presentation of the counselor’s values
 Sheldon Reed proposed the terminology “genetic
counseling”
 in 1947”.

111. INTRODUCTION
 Genetic counseling process follows these basic
characteristic of a counseling process. It is
undertaken with families confronted with genetic
and inherited disorders

112. DEFINITION
The American society of human Genetic define
Genetic Counseling as a communication process,
which deals with human problems associated with
the occurrence or the risk of occurrence of a genetic
disorder in a family
Smith (1955) defines Counseling as “ a process in
which the counselor assists the counselee to make
Interpretations off acts relating to a choice, plan or
adjustments which he needs to make ”

113. PURPOSE
 Provide concrete, accurate information about inherited
disorders.
 Reassure people who are concerned that their child may
inherit a particular disorder that the disorder will not
occur.
 Allow people who are affected by inherited disease to
make informed choice about future reproduction.
 Educate people about inherited disorder and the process
of inheritance.
 Offer support by skilled health care professionals to
people who are affected by genetic disorders.

114. INDICATION
 If a standard prenatal screening test (such as α
fetoprotein test) yields an abnormal result.
 An amniocentesis yields unexpected results (such as
chromosomal defect in the unborn baby).
 Either parent or close relative has an in heritance disease
or birth defect, either parents already has children with
birth defect or genetic disorders.
 The mother has had two or more miscarriage or a baby
dies in infancy.
 The mother is 35yrs of age or over.
 The partner is blood relatives

115. STEPS OF GENETIC COUNSELING
An accurate diagnosis of disorder. To complete an
accurate diagnosis the following procedure should be followed
History:
A proper record of the history of the patient is necessary:
 This includes both present and relevant past history
 Family history includes siblings and other relatives also.
 Kindly note if there is any other person in the family with a
similar problem
 Obstetric history of includes exposure to teratogens (drugs,
Xrays) in pregnancy. History of abortion or still birth if any,
should be recorded
 Enquiry should be made about consanguinity as it increases
the risk especially in autosomal recessive disorders

116. STEPS OF GENETIC COUNSELING……
 Obstetric history of includes exposure to teratogens
(drugs, Xrays) in pregnancy. History of abortion or still
birth if any, should be recorded
 Enquiry should be made about consanguinity as it
increases the risk especially in autosomal recessive
disorders
 Pedigree Charting
At a glance this offers in a concise manner the state
of disorder in a family. Constructing a pedigree with
proper interrogation though time consuming, is
ultimately rewarding. If forms an indispensable step
towards counseling

117. STEPS OF GENETIC COUNSELING……
 Estimation of Risk:
It forms one of the most important aspect of
genetic counseling. It is often called recurrence risk.
To estimate it one requires to take into account
following points:
 Mode of inheritance
 Analysis of pedigree or family tree
 Results of various tests

118. STEPS OF GENETIC COUNSELING……
 Transmitting Information
After completing the diagnosis, pedigree
charging and estimation of risk the next most
important step is of communicating this information
to the consultants.
This important functioning involves various factors
such as
 Psychology of the patient.
 The Emotional stress under prevailing circumstances.
 Attitude of family members towards the patients.
 Educational, social and financial background of the family.

119. STEPS OF GENETIC COUNSELING……
 Gaining confidence of consultants in subsequence meetings
during follow up.
 Ethical, moral and legal implications involved in the process.
 Above all, communication skills to transmit facts in an
effective manner i.e. making them more acceptable and
palatable.

120. STEPS OF GENETIC COUNSELING……
 Management:
In genetics, “Treatment” implies a very limited
scope. It naturally aims for prevention rather then
cure. In fact for most of the genetic disorders cure is
unknown. Treatment is therefore directed towards
minimizing the damage by early detection and
preventing further irreversible damage. For example
PKU, i.e. Phenylketonuria. This disorder is
characterized by a deficiency of phenylalanine
hydroxylase enzyme, which is necessary for the
conversion of phenylalanine to tyrosine

121. APPLICATIONS OF GENETIC
COUNSELING
Genetic counselors work with people concerned
about the risk of an inherited disease or condition.
These people represent several different populations

122. Prenatal Genetic Counseling
 Prenatal tests that are offered during genetic
counseling include
 Level II Ultrasound
 The maternal serum AFP
 Chorionic Villus sampling (CVS)
 Amniocentesis

123. Prenatal Genetic Counseling
 Pediatric Genetic Counseling
Families or pediatricians seek genetic counseling
when a child has features of an inherited condition.
Any child who is born with more than one defect,
mental retardation or dysmorphic features has an
increased chance of having a genetic syndrome. A
common type of mental retardation in males for
which genetic testing is available is fragile X-
syndrome

124. Adult Genetic Counseling
 Adults may seek genetic counseling when a person in the
family decided to be tested for the presence of a known
genetic condition,
 When an adult begins exhibiting symptoms of an
inherited condition, or when there is a new diagnosis of
someone with an adult-onset disorder in the family
 In addition, the birth of a child with obvious features of a
genetic disease leads to diagnosis of a parent who is more
mildly affected
 Genetic counseling for adults may lead to the
consideration of presymptomatic genetic testing

125. Cancer Genetic Counseling
 A family history of early onset breast, ovarian or
colon cancer in multiple generations of family is an
common reason a person would seek a genetic
counselor who works with people who have cancer.
 While most cancer is not inherited,there are some
families in which a dominant gene is present and
causing the disease
 The counselor can also discuss the option of testing
for the breast and ovarian cancer genes

126. Cancer Genetic Counseling…………
 A genetic counselor is able to discuss the chances
that the cancer in the family is related to a
dominantly inherited gene
 The counselor can also discuss the option of testing
for the breast and ovarian cancer genes

127. ROLE OF A NURSE IN GENETIC
COUNSELING

128. ROLE OF A NURSE IN GENETIC
COUNSELING
 Guiding a women or couple through prenatal
diagnosis.
 Helping parents make decision in regard to
abnormal prenatal diagnostic results.
 Assisting parents who have had a child with a birth
defect to locate needed service and support.
 Providing support to help the family deal with the
emotional impact of a birth defect.
 Coordinative services of other professionals, such as
social workers, physical and occupational therapist,
psychologist & dietician

129. CONCLUSION
GENETIC
TESTING
ETHICAL
LEGAL AND
PSYCHOSOCIAL
ISSUES
GENETIC
COUNCELLING