GENETIC PATTERN OF COMMON PEADIATRIC DISORDER

INTRODUCTION

In 1865, Gregor Mendal was the first to describe the elements of hereditary genes. His
observation and analysis of the observable features of pea led him to conclude that specific its
particulate factors were passed on unchanged from a parent plant to the next generation.
Scientific discoveries during the last several decades have provided more information about h
genes function and how they contribute to human health and disease. Currently more than
10,371 identified genetic disorders are known to be inherited in a predictable pattern in
families. Nurses are at present in all health care setting and care for individuals who may
have genetic conditions or predisposition. They also ensure that these individuals have access
to the most current genetic information, genetic diagnosis, treatment and management
therapeutics. With this knowledge, nurses can collect appropriate family information; provide
current and appropriate information and support patients, families and communities as they
integrate this new information and technology into their daily lives.

CONCEPT OF GENETICS

 The term 'genetics' was introduced by Bateson in 1906. It has been derived from the
Greek word 'gene', which means 'to become' or 'to grow into'. Therefore, genetics is
the science of coming into being.
 "Genetics is that branch of biological sciences, which deals with the transmission of
characteristics from parents to offspring".
 In other words "genetics is the study of inheritance of disease in families, mapping of
disease genes to specific location on chromosomes, analysis of molecular mechanism
through which genes cause disease and the diagnosis and treatment of genetic
diseases".
 Traditionally genetics has been associated with childbearing decision-making and
caring for children with genetic disorders. Medical genetics has focused. on the
inheritance of hereditary disorders affecting only a small portion of the population.
Genetic services have been primarily associated with prenatal genetic counseling,
identification of Pediatric disorders associated with birth defects and dysmorphology
and in some cases rare adult onset single gene disorders. Recent genetic and
technological advances are helping in us to better understand how genetic changes
impact human variation as well as the development of cancer, Alzheimer's, diabetes
and other multifactorial diseases that are prevalentin adults. The 20.
 Human Genome Project, one of the most significant research endeavors of the
century, deserves much of the credit for the discovery of these new applications of
genetic information.

PRACTICAL APPLICATIONS OF GENETICS IN NURSING

 In last few years, genetics gained several major developments and discoveries related
to health d disease. Medical and nursing care practices are largely influenced with

Bhavana, MSc N, SMS Nursing College, Jaipur Page 1

 recent genetic advancements in health care. Recent advances in genetics knowledge
and technology have impacted all areas of nursing practices. Application of genetics
in nursing is very wide since. All nurses have role in the delivery of genetic services
and manage of genetic information.
 Nurses require genetic knowledge to identify, support, refer and care for person
affected by or at risk for genetic conditions.
 Nurses can offer care that protects patients and families from the risk associated with
genetic information, including addressing family issues Nurses are also needed to
refer patients to genetic specialist and assist in making choice as a genetic health care.
 Genetic nursing is practiced in different environment such as maternity, pediatrics,
medical-surgical, psychiatric and community health nursing.
 Genetic nursing is a holistic practice that includes assessing, planning, implementing
and evaluating the physical, spiritual, ethical and psychosocial aspects of patients and
families who have genetic concerns.
 Advanced practice nurses may play direct roles in genetic counseling and in advanced
assessment. They also may work within a particular specialty in which genetics plays
a role, such as an oncology or cardiology clinic, as well as in long-term management
of specific genetic disorders depending on the specialty area in which they are trained.

Major Practical Application Of Genetics In Nursing

1. Understands genetic basis of diseases

2. Early and Effective Diagnosis of Genetic Disorders
3. Contributes Toward Health Promotion with Genetic Aspect
4. Prevention of Genetic Conditions
5. Management and Care In Genetic Disorders
6. Genetic Information and Counseling
7. Referral Services:
8. Social and Ethical Issues in Genetics

IMPACT OF GENETIC CONDITIONS ON FAMILIES

Genetic disorders or defects are chronic and long lasting, permanent, even after repair. A
person in family with genetic problem can be a terribly very sad experience for every family
member. When cause of problem in hereditary, the news can be seriously difficult to accept
for parents. In many families, when they learn that family member is suffering wills a genetic
problem, it may cause a grief reaction, A mourning for the loss of hope and expectations,
which are part of every family. The grieving, wills all its feeling of anger, depression and
intense sadness is not an uncommon phenomenon. It is normal and natural reaction whenever
a person experiences a loss, whether it is the any morbidity or mortality of a person in a
family. Grieving and emotional impact is one dissension of the impact of genetic conditions
on faintly; there are several other aspects of impact on family like cognitive, social, cultural
and economic impact of genetic conditions on families.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 2

 Fig: Dimensions of impact of genetic conditions on families

MECHANISM OF INHERITANCE

Heredity is the transmission of genetic character from parents to the offspring. Gregor Johann
Mendal (1866) proposed that inheritance is controlled by paired germinal units or factors,
now called genes. They are present in all cells of the body and are transferred to the next
generation through gametes. Factors or genes are thus physical basis of heredity. They
represent small segment of chromosomes. Genes are passed from one generation to the next
generation it from one cell to its daughter cell as components of chromosome (chromosomal
basis of heredity). The genetic material present in chromosomes is DNA. Genes are the
segment of DNA called citrons. Therefore, DNA is the chemical basis of heredity.

Inheritance refers to, how genetic information is passed down from one generation to
next generation. The basic features of mechanism of inheritance are as follows:

Genes or chromosomes are physical basis of inheritance.

Person inherits half of the genetic information from each parent.

Every gene has two copies of genes and each parent contributes for one copy of gene to their
offspring.

Fig.: Mechanism of inheritance

Bhavana, MSc N, SMS Nursing College, Jaipur Page 3
LAWS OF INHERITANCE

Mendel has given following four laws of inheritance:

1. Law of unit inheritance

Law of Unit Inheritance (Paired Factors/Genes) A character is represented in an
organism or person by at least two factors. The two factors lie on the two homologous
chromosomes at the same locus. They may represent the same (homozygous, e.g. 1T
in case of pure tall, tt in case of dwarf) or alternate expression (heterozygous, e.g. Tt
in case of heterozygous tall) of the same character. Factors representing the alternate
or same form of a character are called 'alleles'.
2. Law of dominance
In heterozygous individual, a character is represented by two contrasting factor called
Out of the two alleles. only one is able to express its effect in the individual. It is
called ‘dominant allele'. The other allele, which does not show its effect in the
heterozygous individual is called 'recessive allele'.
3. Law of segregation.
Law of Segregation The two factors of a characteristic, which remain together in an
individual do not get mixed up, but keep their identity distinct, separate at the time of
gametogenesis or sporogenesis, get randomly distributed to different gametes and
then get paired again in different offspring as per the principle of probability.
4. Law of independent assortment.
Law of Independent Assortment According to this principle or law the two factors of
each character assort or separate independent of the factors of other characters at the
time of gamete formation and get randomly rearranged in the offspring.

PATTERNS OF INHERITANCE

Some genetic conditions are caused by mutations in a single gene. These conditions are
usually inherited in one of several straightforward patterns, depending on the gene involved.
Following are the main patterns of inheritance:

1. Mendelian patterns of inheritance: This includes:

a. Autosomal dominant
b. Autosornal recessive
c. Sex linked inheritance:
 X-linked dominant
 X-linked recessive
 Y- linked (holandric) inheritance.
2. Non-Mendelian patients of inheritance:
a. Codominant pattern of inheritance
b. Mlitochondrial pattern of inheritance
c. Multifactororial pattem of inheritance.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 4

AUTOSOMAL DOMINANT
One mutated copy of the gene in each cell is sufficient for a person to be affected by an
autosomal dominant disorder. Each affected person usually has one affected parent.
autosomal dominant disorders tend to occur in every generation of an affected family.
 Main characteristics of autosomal dominant inheritance and disorders:
 Gene is an autosome
 One copy of the mutant gene is needed for effects
 Males and females are affected is equal number on average
 No sex difference in clinical manifestations
 Vertical family history through several generations may be seen
 There is wide variation in expression
 Penetrance may be incomplete (gene can appear in skip a generation)
 Increase paternal age effect may be seen
 Fresh gene mutation is frequent
 Later age of onset is frequent
 Male-to-male transmission is possible
 Normal offspring of an affected person will have normal children and grandchildren
 Least negative effect on reproductive fitness
 Structural protein defect is often involved
 In general disorders tends to be less severe than the recessive disorders
 Men and woman equally affected, variable expression, reduced penetrance (in some
disorders) and advanced paternal age associated with sporadic cases. Common
examples of the autosomal dominant disorders:
 Huntington disease
 Marfan syndrome
 Hereditary breast/ovarian cancer
 Neurofibromatosis type 1
 Colon cancer.
In this example, a man with an autosomal dominant disorder has two affected children
and two unaffected children.

Fig.: Autosomal dominant pattern of Inheritance

Bhavana, MSc N, SMS Nursing College, Jaipur Page 5

 Table : Selective genetic disorders showing autosomal dominant Inheritance

Disorder Occurrence Brief description

Aniridia 1:100,000- Absence of the iris of the eye to varying degree
1:200,000 glaucoma may develop, may be associated with
()the; abnormalities In different syndrome
Achondroplasia 1:10,000- Short limbed type of dwarfism with large hands
1:12,000
Adult polycystic 1:250-1:1,250 Enlarged kidney, hematuda, proteinuria, renal
kidney disease cysts, abdominal mass, eventually renal failure,
may be associated with hypertension hepatic cyst,
diverticular, cerebral hemorrhage may occur,
cystic kidney seen on X-ray films
Facioscapulohumeral 1:100,000- Facial weakness, atrophy in face, upper limb and
muscular dystrophy- 3:100,000 shoulder girdle and pelvic girdle muscles, speech
IA may become indistinct: much variability in
progression and age of onset
Familial hyper 1:200-1:500 Low-density lipoprotein (LDL) receptor mutation
cholesterolemia resulting in deviated LDL, xanthomas, archs
(type-IIA) lipoldy, corneal and coronary disease
Hereditary 1:4,500-1:5,000 Red cell membrane defect leading to abnormal
sphenxytosis shape, impaired survival and hemolytic anemia

Bhavana, MSc N, SMS Nursing College, Jaipur Page 6

AUTOSOMAL RECESSIVE
Two mutated copies of the gene are present in each cell when a person has an autosomal
recessive disorder. An affected person usually has unaffected parents who each carry a single
copy of the mutated gene (and are referred to as carriers) . Autosomal recessive disorders are
typically not seen in every generation of an affected family.

Fig: Autosomal recessive pattern of inheritance

Main characteristics of autosomal recessive inheritance and disorders:

 Gene is located on autosome

 Horizontal occurrence seen in families
 Two copies of the mutated gene are needed for phenotypic manifestations
 Male and females are affected in equal number on average
 No sex difference in clinical manifestations
 Familv history is usually negative especially for vertical transmission (in more than
one generation.
 Other affected individual in family in same generation (horizontal transmission) may
be seen
 Consanguinity or relatedness is more often present than in other type of inherited
conditions
 Fresh gene mutation is rare
 Age of disease onset is usually early newborn. infancy. early childhood
 Greater negative effect on reproductive fitness
 Associated with particular ethnic groups.
 Common examples of the autosomal recessive disorders:
 Cystic fibrosis
 Tay-Sachs disease
 Thalassemia
 Sickle cell anemia
 Phyenylketonuria.
In this example, two unaffected parents each carry one copy of a gene mutation for
ail autosomal recessive disorder. They have one affected child and three unaffected
children, two of which carry one copy of the gene mutation

Bhavana, MSc N, SMS Nursing College, Jaipur Page 7

 Table : Selective genetic disorders showing autosomal recessive inheritance

Bhavana, MSc N, SMS Nursing College, Jaipur Page 8

SEX-LINKED INHERITANCE

X-linked Dominant

X-linked dominant disorders are caused by mutations in genes on the X chromosome.

Females are more frequently affected than males and the chance of passing on an X- linked
dominant disorder differs between men and women. Families with an X-linked dominant
disorder often have both affected males and affected females in each generation. A striking
characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Fig : X-linked dominant pattern of Fig : X-linked dominant pattern of inheritance

inheritance with affected father with affected mother

Major characteristics of X-linked dominant inheritance and disorders:

 Mutant gene is located on X-chromosome

 One copy of the mutant gene is needed for phenotypic manifestations
 X-inactivation modifies the gene effect in females
 Often lethal in males and so many see transmission only in the female line
 Affected families usually show excess of female offspring (2:1)
 Affected male have affected mother (unless new mutation)
 There is no male-to-male transmission
 There is no carrier state
 Disorders are relatively uncommon.
 Common example of the X-linked dominant disorders is Fragile X syndrome, In this
example, a man with an X-linked dominant condition has two affected daughters and
unaffected sons.
 In this example, a woman with an X-linked dominant condition has an affected
(taught' an affected son, an unaffected daughter and an unaffected son.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 9

 Table : Selective genetic disorders showing X-linked dominant inheritance

X-linked Recessive

X-linked recessive disorders are also caused by mutations In genes on the X chromosome,
Males are more frequently affected than females and the chance of passing on the disorder
differs between men and women. Families with an X-linked recessive disorder often have
affected males, but rarely affected females, in each generation.

Major characteristics of X-linked recessive inheritance and disorders

 Mutant gene is located on X-chromosome

 One copy of the mutant gene is needed for phenotypic effect in male (hemizygous)
 All daughters of affected males will be carriers, if the mother Is normal
 All sons of affected males will be normal, if the mother is normal
 Males are more frequently affected than females
 There are some fresh gene mutations
 There is no male-to-male transmission
 Transmission is often through heterozygous (carrier) females
 Two copies of the mutant gene are usually needed for phenotypic effect in females
 Unequal X-inactivation can lead to manifesting heterozygotic in female carriers.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 10

Common examples of the X-linked recessive disorders

 Hemophilia
 Duchenne muscular dystrophy
 Protan and deutan form of color blindness
 Hunter syndrome
 Fabry disease.

In this example, a man with an X-linked recessive condition has two unaffected daughters
who each carry one copy of the gene mutation and two unaffected sons who do not have the
mutations.

In this example, an unaffected woman carries one copy of a gene mutation for an X-linked
recessive disorder. She has an affected son, an unaffected daughter who carries one copy of
the mutation and two unaffected children who do not have the mutation.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 11

 Table: Selective genetic disorders showing X-linked recessive inheritance

Bhavana, MSc N, SMS Nursing College, Jaipur Page 12

CODOMINANT PATTERN OF INHERETANCE

In codominant inheritance, two different versions (alleles) of a gene can be expressed and
each version makes a slightly different protein. Both alleles influence the genetic trait or
determine the characteristics of the genetic condition. For example:

• ABO blood group

• a-1 antitrypsin deficiency.

Fig.: Codominant pattern of inheritance

The ABO blood group is a major system for classifying blood types in humans. Blood type
AB is inherited in a codominant pattern. In this example, a father with blood type A and a
mother with blood type B have four children, each with a different blood type: A, AB, B and
0.

MITOCHONDRIAL PATTERN OF INHERITANCE

Mitochondria type of inheritance, also known as maternal inheritance, applies to genes in

mitochondrial DNA. Mitochondria, which are structures in each cell that convert molecules
into energy, each contain a small amount of DNA. Because only egg cells contribute
Mitochondria to the developing embryo, only females can pass on mitochondria' conditions
to their children . Mitochondrial disorders can appear in every generation of a family and can
affect both males and females, but fathers do not pass mitochondria' traits to their children.
For example, leber's hereditary optic neuropathy (LHON) in one family, Woman with a
mitochondrial disorder and her unaffected husband have only affected children. In another
family, a man with a mitochondrial condition and his unaffected wife have no affected
children.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 13

 Fig.: Mitochondria pattern of inheritance

MULTIFACTORORIAL PATTERN OF INHERITANCE

Multifactororial pattern of inheritance common cause of many birth defects as well as

common adult onset conditions such as diabetes, heart disease and cancer. Multifactorial
inheritance conditions are believed to be the result of multiple mutations and environmental
influence that combine to cause birth defects or disease. Genetic conditions with a
multifactorial cause tend to cluster in families, but do not follow the characteristic pattern of
inheritance seen with single gene disorder. Example includes:

 Congenital heart disease

 Cleft lip/palate
 Neural tube defect
 Congenital hip dislocation
 Diabetes
 High blood pressure.

CHROMOSOMAL ABERRATIONS

 Chromosomal aberrations are disruptions in the normal chromosomal content of a cell

and are a major cause of genetic conditions in humans, such as Down syndrome.
 In other words, they are changes in the number and/or arrangement of genes in the
chromosomes.
 Change in number of chromosomes is known as aneuploidy or numerical aberration.
 Change in arrangement of genes in the chromosomes is known as structural
aberration.
 Chromosomal aberrations may involve changes in single chromosome, known as
intra-chromosomal aberrations.
 Chromosomal aberrations may involve changes in two chromosomes, known as inter-
chromosomal aberrations.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 14

  They are also termed as chromosomal abnormalities. Some chromosome
abnormalities do not cause disease in carriers, such as translocations, or chromosomal
inversions, although they may lead to a higher chance of having a child with a
chromosome disorder. Abnormal numbers of chromosomes or chromosome sets,
aneuploidy, may be lethal or give rise to genetic disorders.
 Chromosomal abnormalities result in a proportion of congenital anomalies,
developmental and intellectual disabilities and behavioral difficulties. The majority of
spontaneous abortions (about 5096-60%) are the result of chromosomal abnormalities,
particularly, if they occur early, numerical changes in chromosomes are summarized
in below table, structural changes are summarized in below table.

Table : Changes in Chromosomal number( Numerical Aberration)

Bhavana, MSc N, SMS Nursing College, Jaipur Page 15

 Table: Major changes in chromosome structure (structural aberration)

Chromosomal aberrations can lead to a variety of genetic disorders. Human examples

include. some of genetic disorder or genetic disease are as follows

 Cri-du-chat, which is caused by the deletion of part of the short arm of chromosome
5. 'Cri -du-chat' means 'cry of the cat' in French and the condition was so-named
because affected babies make high-pitched cries that sound like a cat. Affected
Individuals have wide-set eyes, a small head and jaw and are moderately to severely
mentally retarded and very short.
 Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of
chromosome 4. It is characterized by severe growth retardation and severe to
profound mental retardation.
 Down's syndrome, usually is caused by an extra copy of chromosome 21 (trisomy 21).
Characteristics include decreased muscle tone, stockier build, asymmetrical skull,
slanting eyes and mild to moderate mental retardation.
 Edwards syndrome, which is the second most common trisomy after Down syndrome.
It is a trisomy of chromosome 18. Symptoms include mental and motor retardation

Bhavana, MSc N, SMS Nursing College, Jaipur Page 16

 and numerous congenital anomalies causing serious health problems. About 90% die
in infancy; however, those who live past their first birthday usually are quite healthy
thereafter. They have a characteristic hand appearance with clenched hands and
overlapping fingers.
 Patau syndrome, also called D syndrome or trisomy 13. Symptoms are somewhat
similar to those of trisomy 18, but they do not have the characteristic hand shape.
 Idic15, abbreviation for isodicentric 15 on chromosome 15; also called the following
names due to various researches, but they all mean the same; idic15, inverted
dupliction 15, extra marker, inv dup 15, partial tetrasomy 15.
 Jacobsen syndrome, also called the terminal 11q deletion disorder. This is a very rare
disorder. Those affected have normal intelligence or mild mental retardation with
poor expressive language skills. Most have a bleeding disorder called Paris-Trousseau
syndrome.
 Klinefelter's syndrome (XXY): Men with Klinefelter's syndrome are usually sterile
and tend to have longer arms and legs and to be taller than their peers. Boys with the
syndrome are often shy and quiet and have a higher incidence of speech delay and
dyslexia. During puberty, without testosterone treatment, some of them may develop
gynecomastia.
 Turner's syndrome (X instead of XX or XY): In Turner's syndrome, female sexual
characteristics are present, but underdeveloped. People with Turner's syndrome often
have a short stature, low hairline, abnormal eye features and bone development and a
'caved-in' appearance to the chest
 XYY syndrome: XYY boys are usually taller than their siblings. Like XXY boys and
XXX girls, they are somewhat more likely to have learning difficulties.
 Triple-X syndrome ()COQ: XXX girls tend to be tall and thin. They have a higher
incidence of dyslexia.
 Small supernumerary marker chromosome: This means there is an extra, abnormal
chromosome. Features depend on the origin of the extra genetic material. Cat-eye
syndrome and Idic15 are both caused by a supernumerary marker chromosome, as is
Pallister-Killian syndrome.

Table :Incidence of selected chromosomal abnormalities in live born child

Bhavana, MSc N, SMS Nursing College, Jaipur Page 17

 GENETIC TESTING

Genetic testing is a type of medical testing that identifies changes in genes. We inherit genes from
our parents and we pass them to our children. Genetic tests may be used to confirm a suspected
disease, or to test for an increased risk of developing a disorder that runs in a family. These tests also
help us choose additional diagnostic tests (like radiological imaging), the best treatment or monitor
responses to treatment. More than 2,000 genetic tests are currently in use, with more being developed
all the time.

Examples for methods that 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 may lead to a genetic disorder.
 Chromosomal genetic tests: Analyze all chromosomes of an individual at once.
 Biochemical genetic tests: Study the amount or activity level of proteins (encoded by specific
genes) which may indicate a genetic disorder.

Several Reasons For Considering A Genetic Test:

 A patient or his/her children have symptoms of a disorder and you want to facilitate a
diagnosis or find a biological cause responsible for the disease.
 A patient is at risk of developing this condition during lifetime.
 A genetic condition runs in the family or the patient belongs to a group or population in
which there is an increased risk of a specific genetic condition and he/she want to know
whether they are at risk or might pass this condition on to their children.

Genetic Testing Become Relevant

 If a genetic disorder is suspected and a diagnosis is sought (diagnostic testing).
 If a genetic disease runs in the family, some members may want to know if they’re at
risk of developing this condition (predictive testing).
 If a genetic disease runs in the family, some members may want to know if they carry
this disorder, and the risk of passing this condition to their children (carrier testing).
 Some ethnic groups have a much higher incidence of specific genetic disorders, so it is
important that diagnostic/predictive/carrier testing is available.

Purposes Of Genetic Testing

Bhavana, MSc N, SMS Nursing College, Jaipur Page 18

  To diagnose a disease
 To find the causative mutation (i.e. the exact change in the gene that causes this
condition)
 To predict if the disease will get worse over time or not (prognosis)
 To enable physicians to manage the disease more effectively and use the best
treatments available
 To search for the same genetic change in other members of the family. If people know
in advance they are at risk of developing a disease, they can plan their lives with all
the support they need.
 Genetic tests can also be performed before a child is born: preimplantation and
prenatal diagnosis. This is important in families with a known genetic disorder when
couples are planning to have children. After establishing the knowledge of their risk
of having an affected child through genetic carrier testing, several options are
available:
 Preimplantation diagnosis (after in vitro fertilization) can be performed at a very early
stage of embryo development. DNA from the embryo can be tested for certain genetic
disorders. Molecular biology techniques allow to analyze this tiny amount of DNA
and to distinguish between affected and unaffected embryos without destroying them.
Only embryos that were tested as normal are implanted in the mother’s womb.
 Prenatal diagnosis is done at a later stage (>10-20 weeks) on samples from the fetus,
e.g. amniotic fluid, chorionic villi, or fetal blood.So genetic testing on the unborn
child can be done before and during a pregnancy. Many ethical questions are still
open regarding genetic testing on the unborn child. However, as genetic technologies
advance, a much wider range of tests will become available for prenatal and
preimplantation diagnosis.
 What are the benefits of genetic testing?
 Genetic testing can be beneficial, regardless of the result:
 For some specific disorders, genetic testing may be the only way to make an accurate
diagnosis.
 Once a genetic diagnosis is made, it makes further diagnostic investigations for the
diagnosis unnecessary, which is good for the patient and the healthcare system.
 A definite diagnosis can be a great relief to patients and families, especially if they
have been searching for the answer for a long time.
 Genetic testing can guide the physician in choosing the most suitable therapy and
support for the patient.
 For some, genetic diseases good surveillance and early intervention can save the
patient’s life, e.g. hereditary breast cancer caused by mutations in the BRCA1 or
BRCA2 genes. The results of genetic testing may be useful for future family planning.
 Genetic counseling and support can be offered to families affected by a genetic
disorder, helping to reduce fears, make informed decisions and plan for the future.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 19

Limitations And Risks Of Genetic Testing
Taking a genetic test, waiting for the results, and then receiving them may cause a range of
mixed emotions such as stress, anxiety, relief, or guilt. It is important to consider the possible
consequences for the person being tested, no matter if he/she receives good news or bad
news.
Who Is A Candidate For Genetic Testing?
Genetic testing can be roughly categorized in diagnostic and predictive testing:
1. Diagnostic testing is performed in order to identify the mutation that causes the
symptoms of the person. If it is about a family, this test should be done in one affected
person, or, if not possible, in relatives who are as close as possible to the person who
is affected, called the index patient.
2. Predictive testing is an examination that is done in a person who does not show any
symptoms. But this person may carry a mutation and thus has a risk of developing
symptoms later in life.
3. Carrier testing. Another type of test is called carrier testing. This is relevant for
people who carry a mutation but are not affected themselves, although there is a risk
for their children to be affected.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 20

 GENETIC SCREENING

The use of various method or techniques to evaluate to population or group of individual

independent of a family history of a disorder and without clinical sign or symptoms.
There are two types of prenatal tests for genetic disorders:
1. Prenatal Screening Tests: These tests can tell you the chances that your fetus has an
aneuploidy and a few other disorders.
2. Prenatal Diagnostic Tests: These tests can tell you whether your fetus actually has
certain disorders. These tests are done on cells from the fetus or placenta obtained
through amniocentesis or chorionic villus sampling (CVS). Both screening and
diagnostic testing are offered to all pregnant women.
3. The different types of prenatal genetic screening tests.

Screening tests can tell you your risk of having a baby with certain disorders. They include
carrier screening and prenatal genetic screening tests:
 Carrier screening is done on parents (or those just thinking about becoming parents)
using a blood sample or tissue sample swabbed from inside the cheek. These tests are
used to find out whether a person carries a gene for certain inherited disorders. Carrier
screening can be done before or during pregnancy.
 Prenatal genetic screening tests of the pregnant woman’s blood and findings from
ultrasound exams can screen the fetus for aneuploidy; defects of the brain and spine
called neural tube defects (NTDs); and some defects of the abdomen, heart, and facial
features. This FAQ focuses on these tests. They include first-trimester screening,
second-trimester screening, combined first- and second-trimester screening, and cell-
free DNA testing.

First-Trimester Screening
First-trimester screening includes a test of the pregnant woman’s blood and an ultrasound
exam. Both tests usually are done together between 10 weeks and 13 weeks of pregnancy:
 The blood test measures the level of two substances.
 The ultrasound exam, called a nuchal translucency screening, measures the
thickness of a space at the back of the fetus’s neck. An abnormal measurement means
there is an increased risk that the fetus has Down syndrome (trisomy 21) or another
type of aneuploidy. It also is linked to physical defects of the heart, abdominal wall,
and skeleton.

Second-Trimester Screening
Second-trimester screening includes the following tests:
 The “quad” or “quadruple” blood test measures the levels of four different substances
in your blood. The quad test screens for Down syndrome, Edwards syndrome
(trisomy 18), and NTDs. It is done between 15 weeks and 22 weeks of pregnancy.
 An ultrasound exam done between 18 weeks and 22 weeks of pregnancy checks for
major physical defects in the brain and spine, facial features, abdomen, heart, and
limbs.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 21

 Cell-Free DNA Testing
Cell-free DNA is the small amount of DNA that is released from the placenta into a pregnant
woman’s bloodstream. The cell-free DNA in a sample of a woman’s blood can be screened
for Down syndrome, Patau syndrome (trisomy 13), Edwards syndrome, and problems with
the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It
takes about 1 week to get the results. A positive cell-free DNA test result should be followed
by a diagnostic test with amniocentesis or CVS.
Accurate Are Prenatal Genetic Screening Tests
With any type of testing, there is a possibility of false-positive results and false-negative
results. A screening test result that shows there is a problem when one does not exist is called
a false-positive result. A screening test result that shows there is not a problem when one
does exist is called a false-negative result. Your health care professional can give you
information about the rates of false-positive and false-negative results for each test.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 22

 GENETIC COUNSELING

Genetic counseling is the process by which patients, their parents, or family members at risk of a
genetic disorder are advised by specially trained professionals who can give objective information
about the consequences and nature of the disorder, the probability of developing or transmitting it, and
the options available in disease management and family planning.
Genetic counseling will take into account the patient’s situation and needs and will provide him/her
with information about all .
In the sophisticated programs that are pioneering predictive genetic tests for cancer, genetic
counseling plays a vital role. Persons considering genetic testing meet with genetic
counselors both before and after the test. Before testing, the counselors try to make sure that
the person is psychologically prepared to cope with the test results, and that he or she has
enough balanced information to be able to formulate a truly informed consent. If the person
decides to proceed with the testing, genetic counselors help the individual and the family to
adjust to the test results, and give advice to arrange whatever prevention and screening
measures are appropriate.

Examination in Genetic counseling

 A standard prenatal screening test has an abnormal result
 An amniocentesis yields an unexpected result
 Either parent or a close relative has an inherited disease or birth defect
 Either parent already has children with birth defects, intellectual disabilities, or
genetic disorders
 The mother-to-be has had two or more miscarriages or babies that died in infancy
 The mother-to-be will be 35 or older when the baby is born. Chances of having a
child with down syndrome increase with the mother's age.
 There's concern about genetic defects that happen often in an ethnic or racial group
 Either parent is concerned about the effects of exposure to radiation, medicines,
illegal drugs, infections, or chemicals
 role

Bhavana, MSc N, SMS Nursing College, Jaipur Page 23

Genetic Counseling Is The Process Of:
 Checking family medical history and medical records
 Ordering genetic tests
 Evaluating the results of these tests and records
 Helping parents understand and reach decisions about what to do next

Genetic tests are done by analyzing small samples of blood or body tissues. They determine
whether you, your partner, or your baby carry genes for some inherited disorders

Role Of Genetic Counselors

Genetic counselors play an important in providing expert genetic services. They are trained to
present often complex and difficult-to-comprehend information to families and patients about
genetic risks, testing, and diagnosis; discuss available options; and provide counseling
services and referrals to educational and support services.
Genetic counselors work as part of a health care team, providing information and support to
families affected by or at risk of a genetic disorder.
They help to identify families at possible risk of a genetic disorder, gather and analyze family
history and inheritance patterns, calculate risks of recurrence, and provide information about
genetic testing and related procedures.
In particular, genetic counselors can help families to understand the significance of genetic
disorders in the context of cultural, personal, and familial situations.
Genetic counselors also provide supportive counseling services, serve as patient advocates,
and refer individuals and families to other health professionals and community or state
support services.
They serve as a central resource of information about genetic disorders for other health care
professionals, patients, and the general public.
The most common indications for genetic counseling include advanced maternal age, family
history of a genetic condition, and suspected diagnosis of a genetic condition.

Process of Genetic Counseling

In general, a genetic counseling session aims to:
 Increase the family’s understanding about a genetic disease(s), the risks and benefits
of genetic testing and disease management, and available options.
 Identify with the individual and family the psychosocial tools required to adjust to
potential outcomes.
 Reduce the family’s anxiety.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 24

 ETHICAL, LEGAL, AND SOCIAL ISSUES OF GENETICS

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.

Description of Ethical, Legal, and Social Issues

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.

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. 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.

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.

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.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

Bhavana, MSc N, SMS Nursing College, Jaipur Page 25

Genetic Discrimination
When considering genetic testing, the potential for discrimination based on genetic
information is a major concern often raised.
On 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
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 apply to life, disability, or long-term care insurance.
Before the federal protections of GINA, more than 40 states established legislation
prohibiting genetic discrimination. However, the scope of these protections differs from state
to state. GINA does not overturn broader protections provided in some state regulations.

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
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.

Psychosocial Impact
Every individual will respond differently to news of his/her genetic test results, whether
negative or positive. 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.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 26

 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.

Societal Values
Genetic information can raise questions about personal responsibility, personal choice versus
genetic determinism/fate, and concepts of health and disease.. 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.

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.

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.

Role Of Nurses In Genetics

 Coordinator  Advocate
 Communicator
 Teacher
 Counselor
 Manager
 Leader
 Team Player
 Motivator
 Delegator
 Critical Thinker
 Innovator
 Researcher

Bhavana, MSc N, SMS Nursing College, Jaipur Page 27

Bhavana, MSc N, SMS Nursing College, Jaipur Page 28
Bibliography
1. https://www.acog.org/
2. https://kidshealth.org/
3. https://www.genome.gov
4. Genetic Alliance, https://www.ncbi.nlm.nih.gov
5. Doreen Niemann, Senior Director Strategic Communication, www.centogene.com
6. American Society of Human Genetics; Professional disclosure of familial genetic
information. American Journal of Human Genetics. 1998
7. American Medical Association. "Why physicians should know the legal and ethical
issues raised by genetic information and technology." Genethics. 2000
8. Coalition for Genetic Fairness www.geneticfairness.org.
9. Kyle T and Carmal S Essential Of Paediatrics Wolters Kluwer(India).New Delhi 2nd
Edition2013.
10. Sharma K.S. Text Book of Genetics, Jaypee Brothers, New Delhi, Ist Edition 2016.

Bhavana, MSc N, SMS Nursing College, Jaipur Page 29