ASSINGMENT

ON
ETHICAL AND
PSYCHOSOCIAL ISSUES IN
GENETIC TESTING

INTRODUCTION:
the analysis of human DNA in any of its form or related products (chromosome,
RNA, proteins). Genetic testing identifies changes in chromosomes, genes/DNA or
proteins. Genetic testing in a broader sense includes tests for the possible presence
of genetic disease, or mutant form of genes associated with increased risk of
development genetic disorders. The new knowledge and applications of human
genetics to health and to society have made it even more necessary that nurses
"think genetically" in their practice and, indeed in their lives. Genetic factors can be
responsible in some way for both direct and indirect disease causation; for variation
that determines predisposition, susceptibility, and resistance to disease and also for
response to therapeutic management. Genetic disorders can be manifested initially
at any period of the life cycle. In addition, improved detection, diagnosis, and
treatment have resulted in the survival into adulthood of persons who formerly would
have died in childhood and who now manifest common adult problems on a
background of specific genetic disease. Genetic disorders have an impact not only
on the affected individual but also on his/her family, friends, community, and society,
Genetic variation is important be in response to medications, common foods,
chemicals

that comprise pollution in the environment, and food additives.

GENETIC TESTING:

Genetic testing is defined as examining a sample of blood or other body fluids or

tissue for biochemical, chromosomal, or genetic markers that indicate the presence
or absence of genetic diseases. It is also a" type of medical test that identifies
change in chromosomes, genes or proteins".

PURPOSE OF GENETIC TESTING:

1.Carrier screening, which involves identifying unaffected individuals who carry one
copy for the disease to be expressed
2. Pre implantation genetic diagnosis.
3. Prenatal diagnostic testing.
4. New born screening.
5. Pre symptomatic testing or estimating the risk of adultonset cancers and
alzhiemer's disease.
6. Confirmational disorder of a symptomatic individual.
7. Forensic or identity testing.
8. Pre symptomatic testing for predicting adult onset disorders such as Huntington's
chorea.
9. It allows the genetic diagnosis of vulnerable to inherited diseases. 
10. Jt can be used to determine a child's paternity or a person's ancestry.

INDICATIONS FOR MAKING GENETIC REFERRAL

Following condition require a genetic referral:

MATERNAL RISK FACTORS:

-Advanced material age, 35 years or greater at expected time of delivery
-Family history of previous baby born with neural tube defects
-Previous child with chromosomal anomaly
-Maternal conditions such as diabetes, epilepsy, alcoholism
- One or both parents carrier of sex- linked or autosomal traits
-History of recurrent miscarriage. A child born with unbalanced translocation.
-Abnormal maternal serum triple marker screening test/abnormal serum alpha
fetoprotein
- Exposures to certain medications or drugs during pregnancy
-Oligohydramnios or polyhydramnios
- Contact with infection such as rubella or cytomegalovirus
-Any abnormality observed on ultrasonography
-Decreased fetal activity, Severe symmetrical fetal growth restriction

paediatric condition: Positive neonatal screening test,

Dysmorphic facial features Known chromosomal abnormality.

Who Has Access to Genetic Testing?

Access to clinical genetic testing is mainly through physicians. This is reinforced by

the fact that most laboratories require a physician to countersign the order forms as
well as provide documentation that informed consent was obtained.

Identity or forensic testing is used mainly by law enforcement and legal services.
Paternity or relationship testing is the one form of genetic testing that the public can
freely acess
Access to research genetic testing is a more complex matter. It is largely determined
by whether an individual meets a researcher's requirements and whether the
individual gives informed consent.

What is the Process of Clinical Genetic Testing Like?

If a doctor determines that it is appropriate to offer a patient genetic testing for
clinical purposes,he must obtain informed consent prior to testing. Informed consent
is the process by which a person is made fully aware of his options and participates
in his choices about health care. In genetic testing, this process is also called genetic
counselling. Issues that should be discussed include the following:

1. Genetic testing is voluntary and consent is required to proceed;

2. Time should be taken to ask all questions needed to make an independent
personal decision After consent is given, withdrawal of consent can be done at any
time or the disclosure of the results
3. The major medical facts of the disorder (diagnosis, prognosis, treatments
available, inheritance postponed; pattern, and risks of recurrence in the family);
4. The implications of genetic testing (implications to other family members,
detection of non paternity, and possibility of psychological stress).
5. Sample required and possible side effects of the sample taking procedure
6. Test procedure and expected turn around time
7. Accuracy of test results
8. Confidentiality of results and
9. Alternatives to gene testing
9. The result of genetic testing is almost never released directly by the laboratory to
the patient.
11. Follow-up visit is usually arranged so that a qualified person can explain the
results and implications to the individual in simple layman language.
12.individual's reaction, expectations and questions will have to be addressed and
follow up treatment if indicated.

TYPES OF GENETIC TESTING:

new born screening) New born screening aims at the earliest possible recognition
of disorders to prevent the most serious consequences by timely intervention.
Screening is not a diagnosis and requires further investigations. Guidelines from
some developed countries recommend new born screening before discharge
because of the high prevalence of certain endocrinopathies, confirmatory metabolic
errors significant morbidity. and hearing loss which, if recognized later, contribute to

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

genetic or chromosomal condition. In many cases, genetic testing is USeri 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 what carry on 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 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.

Preimplantation testing: Preimplantation testing, also called preimplantation

genetic diagnosis (FGD), 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 such as in-vitro fertilization. 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 pre-symptomatic testing: Predictive and pre-symptomatic 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 risk of developing disorders with a genetic basis, such as certain
types of cancer. The results of predictive and pre-symptomatic testing can provide
information about a person's risk of developing a specific disorder and help with
making decisions about medical care.

Forensic testing: Forensic testing uses DNA sequences to identify an individual for
legal purposes. This type of testing can identify crime or catastrophe victims, rule out
or implicate a crime suspect, or establish biological relationships in case of disputed
parentage.

Parental testing: This type of genetic test uses special DNA markers to identify the
same or similar inheritance patterns between related individuals.

Research testing: These tests uses special DNA markers to identify unknown
genes, learning how genes work and advancing our understanding of genetic
conditions.

Phormacogenomics: It is a type of genetic testing that determines the influence of

genetic variations on drug response.

COMMON DIAGNOSTIC TEST:

* Ultrasound Amniocentesis / Chorionic villi sampling / Fetal blood cells in maternal

blood Maternal serum alpha-fetoprotein Maternal serum beta-HCG Maternal serum
estriol ULTRASOUND

* This is a non-invasive procedure that is harmless to both the fetus and the mother.
The developing embryo can first be visualized at about 6 weeks gestation.
• Recognition of the major internal organs and extremities to determine if any
abnormality can best be accomplished between 16 to 20 weeks gestation.

Limitations of Ultrasound,

• Abnormalities may not be detected until later in pregnancy, or may not be detected
at all. A good example of this is Down syndrome (trisomy 21) where the morphologic
abnormalities are often not marked. 

AMNIOCENTESIS
• This is an invasive procedure.
• Amniocenteses are performed between 14 and 20 weeks gestation.
• An ultrasound examination always precedes amniocentesis
• In the third trimester of pregnancy, the amniotic fluid can be analyzed for
determination of fetal lung maturity amniotic fluid can be analyzed for lecithin
sphingomyelin (LS) ratio, and/or for phosphatidyl glycerol (PG).
Maternal Rh sensitization. RISK Fetal loss (0.5%). Maternal Rh sensitization. If
oligohydramnios is present, then amniotic fluid cannot be obtained
Chorionic Villus Samplings

In this procedure, a catheter is passed via the vagina through the cervix and into the uterus
to the developing placenta under ultrasound guidance
- CVS can be safely performed between 10 and 13 weeks gestation.
-The introduction of the catheter allows sampling of cells from the placental chorionic.these
cells can then be analyzed by variety of techniques. The most common test employed on
cells obtained by CVS is chromosome analysis to determine the karyotype of the fetus.
Percutaneous Umblical Blood Sampling (PUBS)
• Percutaneous Umblical Blood Sampling permits the removal of blood from fetal- placental
circulation. Because it is less risky, it has replaced fetoscopy, and virtually has revolutionized
our ability to assess, evaluate, and treat the fetus in utero by direct venous access. It can be
performed as early as 16 to 18 weeks gestation or up to term providing there is accurate
cord visualization. Test results are obtained in 48 to 72 hours.

Fetal Tissue Sampling

Another invasive type of testing involves fetal tissue sampling. Fetal tissue sampling is
indicated for disorders that are not diagnosable through amniocentesis or CTVS and are at
increased risk for congenital anomalies. The procedure may be performed at 16 to 22
weeks' gestation, and fetal skin, liver, or muscle tissue may be sampled hours.

Fetal Tissue Sampling

Another invasive type of testing involves fetal tissue sampling Fetal tissue sampling is
indicated for disorders that are not diagnosable through amniocentesis or CTVS and are at
increased risk for congenital anomalies. The procedure may be performed at 16 to 22
weeks' gestation, and fetal skin, liver, or muscle tissue may be sampled.

Risks fetal tissue sampling:

Spontaneous abortion Amniotic fluid leakage Maternal or fetal infection or injuries Preterm
labor or delivery Hemorrhage due to anterior abdominal wall, uterine or placental injuries
Maternal serum alpha fetoprotein I The developing fetus has two major blood proteins
albumin and alpha-fetoprotein (AFP)

Maternal serum alpha-fetoprotein:

The MSAFP test can be utilized to determine the levels of AFP from the fetus
-Ordinarily, only a small amount of AFP gains access to the amniotic fluid and crosses the
placenta to mother's blood.
-When there is a neural tube defect in the fetus
-Then there is a means for escape of more AFP into the amniotic fluid.
-The AFP from the fetus will end up in maternal blood in higher amounts
-Neural tube defects include anencephaly and spina bifida 
Triple marker screen test
Triple marker screen test takes a sample of blood and detects the levels of AFP, HCG, and
estriol in it.
AFP: A protein produced by the fetus. High levels of this protein can indicate certain
potential defects, such as neural tube defects or failure of the fetus's abdomen to close. -
HCG: A hormone produced by the placenta, Low levels may indicate potential problems with
the pregnancy, including possible miscarriage or ectopic pregnancy. High levels of HCG can
indicate a molar pregnancy, or a having a baby with Down syndrome, especially when paired
with low AFP levels and high HCG levels. Abnormal levels Abnormal levels of these
substances may indicate the presence of neural tube defects. multiple pregnancy with two or
more children.
Estriol: An estrogen that comes from both the fetus and the placenta. Low estriol levels
may indicate risk of having a baby with Down syndrome, specially when paired with low AFP
levels and high HCG levels.
Abnormal levels :Abnormal level of these indicators may indicate the presence of neural
tube defect, Such as spina bifida and anencephaly multiple infants, such as twins or triplets
an improper timeline where the pregnancy is further along or not as far along as once
thought.
Abnormal levels can also indicate Down syndrome or Edwards syndrome. Down syndrome
occurs when the fetus develops an extra copy of chromosome 21. It can cause medical
problems and, in some cases, learning disabilities. Edwards syndrome can result in
extensive medical complications. These are sometimes life-threatening in the first months
and years after birth.
The test is often most recommended for women who are 35 years old or older have a family
history of birth defects have diabetes and use insulin have been exposed to high levels oft
radiation had a viral infection during pregnancy.

LEGAL ISSUES IN GENETIC TESTING Genetic testing holds keys to human health but it is
also fraught with legal issues.With the advent and advancement of genetic testing, hope for
better medical care emerged. However legal Issues concerning genetic testing also
demanded attention. These issues include how and when genetic testing should take place,
what kinds of consent a human subject, should be entitled to and who should have access to
genetic material and data derived from testing. Initially, the Department of Health and
Human Services Human Subjects Protocol stood as the sole legislation applicable to genetic
testing. Today, the Health Insurance Portability and Accountability Act and the Genetic
Information Non discrimination seeks to settle these issues.
1.Protection of Human Subjects:
Prior to legislation specifically regarding genetic testing, regulation of genetic research and
testing relied solely on a general code created to protect human research subjects. This
human subjects protocol is located in the Code of Federal Regulations Title 45 Part 46,
according to the US Department of Health and Human Services website. Individuals seeking
to protect the privacy of subjects' genetic material and data cite section 46.111, which state
that researchers must make "adequate provisions to protect the privacy of subjects and to
maintain the confidentiality of data.
2.Health Insurance Portability and Accountability Act (HIPAA):
Health insurance providers use people's past medical history and "pre-existing conditions" to
determine whether or not to Provide them with health insurance and, if so, how much to
charge. Non-research genetic testing data could be in an individual's medical records. The
ability of genetic testing to find the Presence of genes for many illnesses and disorders
creates a legal issue as to whether or not health insurance companies should be allowed to
use genetic testing in their coverage determinations. The Health Insurance Portability and
Accountability Act (HIPAA) of 1996 contains measures to deal with this issue. Specifically,
the law states that an insurance company may not use genetic information as reasoning for
denying health coverage or charging an increased coverage rate.
3.Genetic Information Non-discrimination Act (GINA) third legal issue in genetic testing
regards discrimination on the basis of genetic data. Fear over sickle cell anaemia gene
carriers (mostly of African-American descent) in the 1970's led to federal government
withholding testing funding unless states made testing voluntary. In 1988, employment
applicants sued the Lawrence Berkeley National Lab because of pre employment genetic
screening and courts ruled in the applicant's favour. As a result of the genetic discrimination
issue, congress passed the Genetic information Non-discrimination act GINA in 2008. The
law states that insurance companies and employers may not demand genetic testing nor
discriminate on the basis of genetic tests.
LEGAL AND ETHICAL ISSUES
Before considering these principles, it is appropriate to inquire briefly about the moral
perspectives on which they rest. Moral, ethical and philosophical aspects involved in
geneticcounselling are now emerging as major issues with the development of the
application of various diagnostic techniques as amniocentesis and fetoscopy during
pregnancy. The consultee and the counsellor are now faced with choices that were once left
to fate. Should the genetically defective be aborted? Do parents have a right to produce
defective children?

 What determines the goodness of an act?

 . Whether the person performing it met his or her duties and obligations?.
 Whether the motives of that person were virtuous? Or simply the consequences of
the act?
 The three traditional ethical theories (duty -based theories) represent respectively
those 3 points of view.
1. Respect for autonomy: Respect for autonomy of the individual is the first principle.
Respect of autonomy arises from the assertion that individuals are capable of reasoning,
deciding, willing and acting and thus have right to control their own destiny. This principle
requires that a physician approaching a patient about a particular intervention has the
responsibility to provide sufficient information to allow that individual to make an informed,
independent and voluntary judgment about whether he or she wishes to proceed. In medical
genetics, this process can be broken into 3 steps:

a. Pre-test education and counselling in which the benefits and risks are explained
b. Carrying out the test itself if the patient wishes to proceed
c. Post-test counselling about the outcome of the testing.
2. Beneficence and non-maleficence: Beneficence is the mandate to maximize the
benefits of whatever intervention is being considered. Non-maleficence is the duty to "first do
no harm", i.e. to minimize the risk. This requires the health care provider to describe the
benefits and risks fully, in order to allow the informed decision by the patient. This differs
from a more paternalistic approach of recommending particular course of action, even when
such an approach may be benign and well-intentioned.
3. Privacy and confidentiality: A generally accepted principle is that individuals should
have the right to make an informed decision about whether or not other third parties
(insurers, employers, spouses, family, educational institutions, researchers and others)
should have access to medical information (genetic information) about them. Confidentiality
refers to the principle that information provided in a physician- patient relationship carries
with it the expectation of nondisclosure except under explicit circumstances.
4. Justice and Equality: The principles of justice and equality refer to how an individual is
treated in the care, social goods, and potentially beneficial research studies limited to those
with financial resources or know the biological status of his child. context of the rest of the
society. Are the benefits distributed fairly? Are burdens shared? Is access to medical
perceived social worth
For example, denying employment to a healthy individual on the basis of a genetic
predisposition to future illness is in compatible with the usual principles of justice and
equality. In such cases, legal action against the employer might be taken. - Comprehensive
legislative solutions are urgently needed to disallow the use of genetic information in setting
health care premiums or denying coverage it may be noted that many situations may appear
on the surface to represent ethical dilemmas, which can be resolved by thoughtful, reasoned
dialogue between patient, family and providers tremendous advances in technology will
allow more accurate diagnosis and more effective treatment with the need to maintain a
warm, empathetic and ethical approach to patients and their families, struggling with difficult
issues of illness or the threat to illness, Physicians of coming years would be thus well-
advised to heed the Russian proverb, "Let your brain be loving and your heart be wise",
Over the past decade, many ethical, legal, and social issues (ELSI) associated with genetic
testing and research have been raised. For genetic testing to be used safely and
appropriately, these issues should be discussed with patients so they are aware of risks and
benefits. This chapter provides a brief overview of some of the major ELSI concerns related
to genetic testing.
Concerns have arisen regarding the use and potential misuse of genetic information. The
unease relates to a range of misuse: from the analytical and clinical validity of a genetic test,
to the possible stigma of carrying a genetic difference, to the duty of disclosing genetic
information to potentially affected family members.

PSYCHOSOCIAL ISSUES:
Reduction of uncertainty:
A significant psychological benefit of genetic testing is resolution of uncertainty. Even for
individual having a life-shortening disease, testing may lead to appropriate adjustment and
preparation • Both parents and children may be anxious about their uncertain future. Genetic
testing, even if confirming presence of disease, may remove the uncertainty and allow
parents the opportunity to confront the issue directly. When test results are favourable,
psychological benefits may accrue to both parent and children.

Alteration of self-image.
• Children with genetic diseases may suffer a loss of self-esteem during' a critical period
when children's self-identity is developing. Children's understanding of illness and disease is
often limited and may foster self- blame for the disease. If a child's genetic information is
disclosed outside the family, the ensuing loss of privacy may exacerbate poor self-esteem.
Alternatively, in some instances, an affected child may view the disease state as being
normal and may even develop positive attitudes of identification with the affected family
member. For a child who is at risk of carrying recessive genes, the status of "not knowing"
may allow the child to assume that he or she is a carrier and to share some of the burden.
For some children, whose assumption of carrier status provides an important source of self-
identity, the knowledge of being a noncarrier could generate a shift in such identity, Further,
the fact that siblings may make unfounded assumptions about their genetic status
emphasizes the need for thorough age-appropriate genetic counseling, regardless of a
decision to provide a genetic test during childhood.

Impact on family relationships:

* Pre-symptomatic diagnosis in children also has the potential to alter the relationships that
exist between parents and their offspring and among siblings. A child known to have a
deleterious gene may be overindulged rejected, or treated as a scapegoat. The "vulnerable
child" syndrome occurs when the perception of serious illness causes parents to become
overprotective and to restrict a child's participation in childhood activities, responses that
canoccur even when test results reveal a normal genotype. Unaffected siblings may also
experience altered relationships with their parents, particularly in the case of children who
feel disenfranchised if they see that an affected sibling is receiving a disproportionate
amount of care and attention.
Testing a child for an adult-onset disease may inadvertently provide predictive information to
other family members, who may not be interested in this information. However, identifying a
child with a genetic disease or a gene predisposing to disease could benefit relatives who
may wish to consider testing for themselves. Although the provider might presume an
obligation to inform other family members at risk, some patients may prefer not to inform
other family members. Current recommendations and practices suggest that the patient's
wishes for confidentiality should be respected as long as the failure to disclose genetic
information is not likely to result in immediate serious physical harm to the relative.

Impact on life planning:

Information about future health can have implications for planning one's life. The possibility
of serious disease or early death may influence an individual's educational goals,
occupational choices, and specific career plans. This information also may influence choice
of domicile, perhaps to live closer to family, to other support systems, or to adequate medical
facilities. Genetic test results may have financial implications for retirement planning and for
obtaining life, disability, and health insurance.
-Individuals at risk for developing a disease or for transmitting a deleterious gene to their
children may be stigmatized and subject to inappropriate discrimination. Expectations of
others for education, social relationships, and/or employment may be significantly altered
when a child is found to carry a gene associated with a late-onset disease or susceptibility.
Such individuals may not be encouraged to reach their full potential, or they may have
difficulty obtaining education or employment if their risk for early death or disability is
revealed. Presymptomatic diagnosis may preclude insurance coverage or may thwart long
term goals such as advanced education or home ownership. Finally, this information could
be used to assess the suitability of both parents and children in questions of adoption.

OTHER LEGAL, AND SOCIAL ISSUES RELATED TO GENETIC TESTING:

To protect patients from additional distress, healthcare providers should be aware of the
relevant ethical, legal and social issues related to genetics in healthcare, Genetic specialists
may be able to address specific patient concerns and questions regarding these issues
1.Communicating Test Results: it is critical that genetic test results are discussed with
patients in an understandable and compassionate manner. As many genetic tests will not
provide simple positive/negative results, but potentially inconclusive results or risk estimates,
it is important that patients understand the extent of the information actually provided from a
genetic test Results should be released only to those individuals for whom the test recipient
has given consent. The method of communication should be chosen in advance (for
example, by phone or in person) to minimize the likelihood that results will be shared with
unauthorized persons or organizations Under no circumstances should results with personal
identifiers be provided to recipient's written consent. any outside parties, including
employers, insurers, or government agencies, without the test

2 Direct-to-consumer Tests:
A number of companies offer genetic tests directly to consumers without requiring physician
involvement. 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.
3 Duty to Disclose
The results of a genetic test may have implications for a patient's family members. However,
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 a
health professional believes family members may be at risk, the patient may be encouraged
to discuss test results with other family members. In general, families are opposed to doctors
informing at-risk members without their consent, even in cases where the disease is easily
preventable. The duty to inform varies by state, and courts have ruled differently in response
to distinct cases.
The American Society of Human Genetics suggests that disclosure to at-risk individuals is
permissible when the following criteria are met:
-Attempts to encourage disclosure on the part of the patient have failed. -Harm is highly
likely, serious, imminent, and foreseeable.
-At-risk relatives are identifiable.
-Disease is preventable or medically accepted standards for treatment or screening are
available.
-Harm from failing to disclose outweighs the harm from disclosure.

4 Genetic Discrimination: When considering genetic testing, the potential for discrimination
based on genetic information is a major concern often raised. This fear can impact an
individual's decision to utilize genetic testing services. Since the genetic test results are
typically included in an individual's medical record, people should be aware that the results
could be accessible to in May 21, 2008, President Bush signed the Genetic Information
Nondiscrimination Act (GINA) into law. AS the first major new civil rights bill of the new
century, GINA protects individuals from discrimination on the basis of genetic information in
health insurance and others employment. The health insurance provisions of the law take
effect 12 months after the date of signing, in May 2009, and the employment protections
take effect 18 months after the date of signage, in November 2009. In summary, GINA
prevents health insurers from denying coverage or adjusting premiums on the basis of
genetic information or requesting that an individual undergo a genetic test. Similarly,
employers are prohibited from using genetic information to make hiring, firing, or promotion
decisions. The law also limits an employer's right to request, require, or purchase an
employee's genetic information. GINA does not overturn broader protections provided in
some state regulations. 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. 

5 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)
-Privacy/confidentiality of test results
-The voluntary nature of testing
-Potential consequences related to results, including: (1) impact on health; (2) emotional and
psychological reactions; (3) treatment/prevention options; and (4) ramifications for the family
6 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.
7 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.

8 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 non-directive stance and support the patients' decisions.

9 Societal Values:
Genetic information can raise questions about personal responsibility, personal choice
versus genetic determinism/fate, and concepts of health and disease. Personal factors,
family values, and community and cultural beliefs will influence responses to these issues.
Genetic information may influence one individual to change his or her lifestyle or behaviour
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.

11 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.
12. Right to Refuse to Participate or informed choices Although
some new born screening is compulsory, many states provide for exemption from screening
of the new born for genetic disorders if this is a violation of the parents' religious beliefs. This
raises two interesting issues. The first is that often parents are not specifically asked to give
informed consent for this type of screening, so that they never have the opportunity to refuse
their child's participation. The second point is whether or not the parents should have the
right to deny the child the privilege of discovering whether or not they may have disorders
such as PKU and hypothyroidism, which are amenable to early treatment, thus preventing
retardation.
13.OWNERSHIP OF SAMPLES TAKEN FOR SCREENING:
When blood or urine samples are used for either neonatal or other screening, these are
often stored away to use for additional testing. Such a use is almost always unknown to the
person from whom it has been taken. Although these are generally considered to be a good
source of material for future research, it raises certain questions. What responsibilities are
there if these samples are tested later and found to be positive for a different disorder? Is the
researcher then responsible for locating that individual and communicating results? Who
actually owns these samples? The question of asking the individual's consent for use in later
testing could be obtained along with instructions whether or not the individual wants to be
informed of the results. If identifying information is from the sample, potential risks and
benefits would both be decreased.
APPLICATIONS OF GENETIC TESTING IN NURSING
Common examples of expected outcomes for the person faced with decisional conflict
related to genetic testing are all associated with decision-making. The Person will: -Identify
relevant information related to the genetic condition and associated genetic tests

-Identify the alternatives of testing and not testing as a choice

-identify the consequences of having the genetic information and not having it
-identify where and how to obtain specialized support
-Acknowledge the potential impact of genetic information on Other family members.
-Acknowledge the risks of having genetic information in one's health record.
-Weigh alternatives of genetic testing. -Choose whether to pursue genetic testing.

NURSING ROLE
Nursing interventions for persons faced with a choice related to genetic testing include 1.
Active listening:
Attend closely to the verbal and nonverbal messages conveyed by the patient, clarify
messages with follow-up question
2.Genetic Risk identification:
• Provide for privacy and confidentiality during assessments and conferences
Review relevant diagnostic procedure.
3.Decision-making Support:
• Provide information about alternatives
• Assist patient in identifying advantages and disadvantages of options Facilitate discussions
with other family members
4.Emotional Support:
• Provide reassurance, acceptance and encouragement during the decision-making process.
non-judgmental and come sympathy (nondirective approach).
5. Referrals:
• Arrange for services of a genetic counselor if desired; contact provider.
6. Documentation:
Record details of conferences and include
•Prepare referral forms.
7.Providing Follow-up after Genetic Evaluation:
-follow-up genetic counseling is always provided to patients and families as some may need
more time to understand and discuss the specifics of a genetic test or diagnosis or wish to
review reproductive Options again later when pregnancy is being considered.
-Other family members may need further evaluation and counseling.
-Nurse can educate patients about whether to find information about genetic issues.
ROLE OF NURSE IN GENETIC COUNSELING
1. Recognize or suspect genetic disorders by their physical characteristics and clinical
manifestations.
2. Create a genetic pedigree (diagram of the family history), including cause of death and
any genetically linked ailment. Explain those aspects of diagnosis, prognosis and treatment
that affect the patient and his family. Relate information that parents affected or at -risk
individuals and care givers need to know to plan for the care of the patient and his family.
3. Clear-up misconceptions and allay feelings of guilt.
4. Assist with the diagnostic process by exploring medical and family history information, by
using physical assessment skills, by obtaining blood sample, or by assisting with other
means of sample collection, as indicated.
5. Enhance and reinforce self-image and self-worth of parents, child or the individual at risk
for presenting with a genetic condition.
6. Encourage interaction with family and friends, offer referrals, phone numbers of support
group.
7. Refer and prepare family for genetic counselling:a. Inform that the prenatal testing does
not mean termination of pregnancy e.g. It may confirm that the foetus is not affected, thus
eliminating worry throughout pregnancy, although the determination of an abnormality is also
a possibility.
b. Encourage parents and patients to allow adequate time to deliberate on a course of
action. Eg they should not rush into a test without full knowledge of what the result can and
cannot tell, nor should they rush to make future reproductive decisions such as tubal ligation
because in a few years they may want more children.
c. Remain non-judgmental.
8. Check with the Govt. Policy for information and resources regarding neonate testing
required, state regulations on genetic testing and research. 9. Recognize that there are
many ethical, legal, psychosocial and professional issues associated with obtaining, using
and sorting genetic information.
10. Be aware of associated professional responsibilities, including informed consent,
documentation in medical records, medical releases and individual privacy of information.
Health Care Team Roles
Genetic Counsellors are specially trained members of health care team who have a master's
degree in genetic counselling. They receive referrals from obstetricians, paediatricians,
family physicians, and other doctors. They interpret the results of tests from laboratory
personnel, medical geneticists, Pathologists. They refer people to the rapists and
counsellors for assistance in resolving issues that arise from the process of genetic
counselling.
SUMMARY AND CONCLUSION:
So today we have learnt about genetic testing, purpose of genetic testing and ethical and
legal issues related to genetic testing. As genetic testing is now an emerging issue in
modern world. genetic screening and testing entail certain risks as well as benefits.

BIBLIOGRAPHY/REFRENCES:
Lashley, f,clinical genetics in nursing practice. 3rd ed. new york: springer publishing Basheer
P S, A concise textbook of advanced nursing practice. 1ST edition Bangalore:
company,2005,pg.271-275,
EMMESS medical publisher, 2012; pp. 139-145. Brar KN, A textbook of advanced nursing
practice 1 edition. New delhi: Jaypee publication, 2015; pg-249-251.
https:/www.ncbi.nlm.nih.gov/books NBK115574
https www.who int genomics elst gentesting en Bangalore: EMMESS medical