GENETICS
 Genetics
 The study of the way such disorders occur.
 Abnormalities can occur at the moment of
ovum and sperm fusion or even earlier, in
the meiotic division phase of gametes
(ovum and sperm). This is the result of
early abortion in 1st trimester or if does not
affects the life in utero, the disorder
becomes apparent only after birth or at
time of fetal testing. This can be treated
with genes replacement therapy.
 Genes
 Are the basic unit of heredity that
determines both the physical and mental
characteristics of people
 They are composed of segments of DNA
(deoxyribonucleic acid) they direct protein
synthesis.
 Genes are woven into strands in the
nucleus of all body cells to form
CHROMOSOMES.
• In human, each cell with the exception
of the sperm & ovum, contains 46
chromosomes (44 autosomes & 2 sex
chromosomes)
• The spermatozoa and ova carry only
half which is 23 chromosomes.
• If the chromosomes are both XX (large
symmetric) in the zygote formed from
union of sperm & ovum, the individual
is female.
• If one sex chromosome is X & one is a
Y (smaller type), the individual is male.
GENETIC COUNSELING
 Purposes:
1. Provides concrete, accurate information
about inherited disorders.
2. Reassures people who are concerned that
their child may inherit a particular disorder
that the disorder will not occur.
3. Allows people who are affected by inherited
disorders to make informed choices about
future reproduction.
4. Educates people about inherited disorders
and the process of inheritance
5. Offers support by skilled health care
professionals to people who are affected by
genetic disorders
Note: It is important that information revealed
in genetic screening be kept confidential
(because such information could be used to
damage a person's reputation or harm a
future career or relationship).
 Ideal Time for Counseling: Before a first
pregnancy. Some couples take this step
before committing themselves to marriage
 Couples who are most apt to benefit from a
referral for genetic testing or counselling
include:
1. A couple who has a child with a congenital
disorder or an inborn error of metabolism
2. A couple whose close relatives have a child
with a genetic disorder, including a
congenital disorder or inborn error of
metabolism
3. Any individual who has an inborn error of
metabolism or chromosomal disorder
4. A consanguineous (closely related) couple
(the more closely related two people are,
the more genes they have in common, so
the more likely it is that a recessively
inherited disease will be expressed)
5. Any woman older than 35 years of age and
any man older than 55 years of age (this is
directly related to the association between
advanced parental age and the occurrence
of Down Syndrome)
6. Couples of ethnic backgrounds in which
specific illnesses are known to occur.
 NURSING RESPONSIBILITIES:
1. Explain to a couple what procedures they
can expect to undergo.
2. Explain how different genetic screening
tests are done and when they are usually
offered.
3. Supporting a couple during the wait for test
results.
4. Assisting couples in values clarification,
planning and decision-making based on test
results.
 Principles in Genetic Counselling:
1. The individual or couple being counselled
needs a clear understanding of the
information provided.
2. It is never appropriate for any health care
provider to impose his/her own values or
opinions on others.