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1. Consists of biochemical studies or chromosomal

analysis for purposes of detecting genetically-
caused diseases.

2. The use of diagnostic procedures for determining

the presence or absence of one or more genetic
traits or conditions in an individual.

Tay-Sachs disease
PKU - phenyl ketonuria (inborn error of

Genetic testing usually occurs at one of three stages

of life:

1. neonatal period
2. prenatally
3. when couples are considering marriage or


Employed when couples are considering marriage

or reproduction. Helps couples to understand their
relative risk of transmitting a genetic defect to their
children. Examples: -
Tay-Sachs disease & sickle-cell anemia.
Huntington’s chorea
Typically both members of the couple provide cell
samples which are then studied in the laboratory. If
only one member of the couple carries the gene for a
recessive genetic disease, then the couple is not at
risk of producing a child afflicted with the disease but
has a one in two chance of producing a carrier.
However, if both members of a couple carry the gene
for a recessive genetic disease that is not sex-linked,
the couple has a 25% chance of producing an
unaffected child, a 50% chance of producing a carrier,
and a 25% chance of producing a child who will have
the disease.


Chromosomal manipulations or interventions are

contrary to the personal dignity of the human being
and his or her integrity and identity.


1. Freedom and coercion in genetic testing and

2. Confidentiality or disclosure of test results;
3. Access to genetic testing services;
4. Probable benefits and harms of genetic testing
and screening programs.

Freedom and Coercion:

“ethics of genetic duty” – individuals and couples have a

moral duty to learn what they can about the likelihood that
they will transmit genetic conditions to their offspring and
to take reasonable steps – steps that are compatible with
their other ethical convictions – to avoid causing
preventable harm to their descendants.

Confidentiality and Discolsure

who, besides the individual and his or her health

provider, should have access to the information about the
genetic condition?
Two contexts:
1. Extended-family context
Individuals or couples who learn that they
have a genetic disease or carry a genetic trait
may face decisions about whether to inform their
parents, their siblings, their children, and even
more distant relatives.
2. Business context
Involve either employers or insurers. “the
potential for misuse as well as unintended social
or economic injury, information about genetic
conditions should be disclosed to insurers or
employers only with the explicit consent of the
person tested”.


A. Principal benefits:

1. knowledge
2. the ability to avoid transmitting genetic disease to
3. the ability to secure timely treatment for a genetic
4. may help to “democratize” genetic disease – it
may become clearer that visible and invisible
genetic problems are simply an omnipresent
aspect of the human condition.

B. Possible harms:
1. through coercion
2. through leading to exclusion from the work
force or the health care system
3. through providing incomplete information or
partial services.
4. a positive genetic test may result in the
stigmatization of the individual tested.