GENETIC SCREENING (1)

The use of such tests in programs that are

intended to reach a large percentage of persons who
have a particular genetic trait or condition.

Goes hand in hand with genetic testing, which

main purpose is to screen, choose, or select the
genes for proper detection of any genetic disease and
other chromosomal activities/ malformities.

Genetic screening always involves genetic

testing, but genetic testing may not always involve a
systematic, organized screening program.

NEONATAL SCREENING:

Makes possible the early diagnosis of a disease

that can be treated through appropriate medical
intervention. Ex. - phenylketonuria (PKU)

(1)
Genetic Screening and Counseling

The right of married couples to beget children is

conditioned by their capability to provide for them.

Prospective parents therefore must consider these

factors:

1. their own need to have children as the

completion of their mutual love;
2. their own capacity to care for these children;
and
3. the risks that each particular child may suffer
from grave handicaps that require special care,
including the possibility that this child will be
faced in its turn with the question of whether he
or she should pass on defective genes to the
next generation.

Some significant risks of defect exist for every

child and could not be eliminated no matter what
means would be utilized.
Thus, in all cases parents must decide whether
they have the capacity to care for a potentially
defective child.

It is the duty of the genetics counselor and of

society to assist the parents in accepting and meeting
reasonable risks.

(2)
Genetic screening and genetic counseling may occur:

before conception of a child, or

when the child is still in the womb.

Genetic Screening:
1. Amniocentesis
2. Sonography
3. Chorionic sampling:
- this procedure is less invasive than
amniocentesis, enables diagnosis of genetic
abnormalities earlier in pregnancy, and thus is
less dangerous for the infant.

Statistical considerations justifying genetic screening:

1. There are more than 3,000 single-gene defects

identified at present.
2. Each of us carries between five (5) and eight
(8) mutant lethal equivalents (genes), which we
are all able to transmit to subsequent generations.
Thus, we are all mutants, in the strictest sense,
although only about 5% to 8% of us actually
manifest some forms of genetic mutation.
3. .An estimated 0.5% of all live births are
attended by chromosomal imbalances such as
trisomies and chromosome maldistributions . .
Three quarters of these, or 0.29 %, are deleterious
defects. (Also, an estimated 9% of all early
embryos are chromosomally abnormal, most of
them lethally so.) (3)
4. Major single-gene mutations – homozygous and
heterozygous – such as the autosomal dominants
and recessives and the x-linked disorders occur
in 1.8% of the general population.
5. The polygenic conditions such as diabetes
mellitus, gout, and some allergies occur in 1.7%
to 2.6% of all live births. (These figures appear to
remain fairly constant throughout the globe.)

Add the figures, and we have the 4.8% to 5%

incidence of genetic disease in all live births.

In view of the above facts, some scientists in the

name of preventive medicine advocate genetic
screening of the whole population for four purposes:

1. for scientific research, since such research is

necessary to achieve full understanding and
control over human inheritance;
2. to assist responsible parenthood so that
carriers of genetic defects may not pass them
on;
3. to make possible early therapy before the
malfunctioning of defective genes has caused
extensive damage; and
4. to give the parents the option of aborting the
child when the defect is serious and no therapy
is yet known.

(4)
 The first three reasons are legitimate but care
must be taken not to promote abortion or to cooperate
in other ways through direct counseling of abortion.

A Catholic health care facility, however, should

not be prevented from instituting a pre-conception or
post-conception screening program. Such programs
must be conducted prudently, since serious questions
may be raised:

1. the research purposes of genetic screening

must be regulated in the same way as any other
kind of research on human subjects.
Proportionate benefits must be considered.
2. most screening techniques used postnatally
involve the withdrawal of an insignificant
amount of body fluid or tissue and are
harmless. Nevertheless, informed consent is
required in all such cases.

The use of screening to promote responsible

parenthood is in general a laudable purpose, since there can
be no doubt that couples should not bring into the world
children for whom (with the reasonable assistance of
society) they cannot adequately care and that the care of
defective children presents special burdens. Consequently,
prospective parents have the duty to seek the scientific
information useful to such decisions, and society has the
duty to assist them in obtaining such information.
But extreme caution is necessary if the program
Involves negative eugenics. Thus pre-conception genetic
screening programs must be carefully designed,
(5)
Guidelines suggested by the Institute of Society,
Ethics and Life Sciences for screening programs:

1. The attainability of program aims should be pretested by

pilot projects and other studies, and the program should
be constantly evaluated and updated.
2. Community participation in planning and executing the
program should be secured to educate the public on the
true significance and legitimate use of the information
obtained.
3. The information obtained should be made available
according to clearly stated policies known to those
participating before they consent, and their privacy
should be carefully protected.
4. Screening programs should be voluntary. The rights of
parents to make their own decisions about the use of
the information in family planning should be protected
and care taken to avoid stigmatizing them or their
offspring.
5. Information about screening should be open and
available to all, with priorities given to well-defined
populations suffering from frequent defects.
6. Programs should not be instituted unless the tests used
are able to give relatively unambiguous information, and
thus should be precisely recorded.
7. The general principles with regard to experimentation
with human subjects, such as informed consent,
protection from risks, and so forth, should be observed.
8. Persons to be screened or have their children screened
should be informed before they consent of the nature
and cost of therapy and its risks or that no therapy is
available.

Counseling to help the subjects understand and deal with the

information should be provided.
(6)
Genetic Screening and Counseling

The right of married couples to beget children is

conditioned by their capability to provide for them.
Prospective parents therefore must consider these
factors:

1. their own need to have children as the completion

of their mutal love;
2. their own capacity to care for these children; and
3. the risks that each particular child may suffer
from grave handicaps that require special care,
including the possibility that this child will be
faced in its turn with the question of whether he or
she should pass on defective genes to the next
generation.

Some significant risks of defect exist for every child and

could not be eliminated no matter what means would be
utilized. Thus, in all cases parents must decide whether they
have the capacity to care for a potentially defective child.
Furthermore, it is the duty of the genetics counselor and of
society to assist the parents in accepting and meeting
reasonable risks. For genetics counselors or society at large
to encourage in parents the attitude that they should not
have children unless the children are perfect and require the
least care possible is as reprehensible as to encourage
parents to reproduce fatalistically with no account of their
genetic compatibility.
Genetic screening and genetic counseling may occur
before conception of a child, or when the child is still in the
womb.

(7)
Screening:

1. Amniocentesis
2. Sonography
3. Chorionic sampling:
- this procedure is less invasive than
amniocentesis, enables diagnosis of genetic
abnormalities earlier in pregnancy, and thus
is less dangerous for the infant.

Statistical considerations justifying genetic screening:

There are more than 3,000 single-gene defects identified

as present. Moreover each of us carries between five and
eight mutant lethal equivalents (genes), which we are all able
to transmit to subsequent generations. Thus, we are all
mutants, in the strictest sense, although only about 5% to 8%
of us actually manifest some forms of genetic mutation. An
estimated 0.5% of all live births are attended by chromoso-
mal imbalances such as trisomies and chromosome maldis-
tributions . . .Three quarters of these, or 0.29 %, are delete-
rious defects. (Also, an estimated 9% of all early embryos are
chromosomally abnormal, most of them lethally so.) Major
single-gene mutations – homozygous and heterozygous –
such as the autosomal dominants and recessives and the x-
linked disorders occur in 1.8% of the general population. The
polygenic conditions such as diabetes mellitus, gout, and
some allergies occur in 1.7% to 2.6% of all live births. (These
figures appear to remain fairly constant throughout the
globe.) Add the figures, and we have the 4.8% to 5% inci
-idence of genetic disease in all live births.

(8)
 In view of the above facts, some scientists in the nam
Of preventive medicine advocate genetic screening of the
whole population for four purposes:

1. For scientific research, since such research is

necessary to achieve full understanding and control
over human inheritance;
2. To assist responsible parenthood so that carriers of
genetic defects may not pass them on;
3. To make possible early therapy before the malfunction-
ing of defective genes has caused extensive damage; &
4. To give the parents the option of aborting the
child when the defect is serious and no therapy is yet
known.

The first three reasons are legitimate but care must be

taken not to promote abortion or to cooperate in other ways
through direct counseling of abortion.

A Catholic health care facility, however, should not be

prevented from instituting a pre-conception or post-
conception screening program. Such programs must be
conducted prudently, since serious questions may be
raised:

1. The research purposes of genetic screening

must be regulated in the same way as any other
kind of research on human subjects.
proportionate benefits must be considered.
2. Most screening techniques used postnatally
involve the withdrawal of an insignificant
amount of body fluid or tissue and are
harmless. Nevertheless, informed consent is
required in all such cases.
(9)
 Hence, the use of screening to promote
responsible
parenthood is in general a laudable purpose, since
there can be no doubt that couples should not bring
into the world children for whom (with the reasonable
assistance of society) they cannot adequately care
and that the care of defective children presents
special burdens. Consequently, prospective parents
have the duty to seek the scientific information useful
to such decisions, and society has the duty to assist
them in obtaining such information.

But extreme caution is necessary if the program

involves negative eugenics. Thus pre-conception
genetic screening programs must be carefully
designed, thus the following guidelines suggested by
the Institute of Society, Ethics and Life Sciences:

1. The attainability of program aims should be

pretested by pilot projects and other studies,
and the program should be constantly
evaluated and updated.
2. Community participation in planning and
executing the program should be secured to
educate the public on the true significance
and legitimate use of the information
obtained.
3. The information obtained should be made
available according to clearly stated policies
known to those participating before they
consent, and their privacy should be carefully
protected.
(10)
4. Screening programs should be voluntary. The
rights of parents to make their own decisions
about the use of the information in family
planning should be protected and care taken
to avoid stigmatizing them or their offspring.
5. Information about screening should be open
and available to all, with priorities given to
well-defined populations suffering from
frequent defects.
6. Programs should not be instituted unless the
tests used are able to give relatively
unambiguous information, and thus should
be precisely recorded.
7. The general principles with regard to
experimentation with human subjects, such
as informed consent, protection from risks,
and so forth, should be observed.
8. Persons to be screened or have their children
screened should be informed before they
consent of the nature and cost of therapy and
its risks or that no therapy is available.
9. Counseling to help the subjects understand
and deal with the information should be
provided.

(11)