Genetic testing
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Transcript of Genetic testing
GENETIC TESTING
• Definition
• Genetic testing is a type of medical test that
identifies changes in chromosomes, genes,
or proteins.
• The results of a genetic test can confirm or
rule out a suspected genetic condition or
help determine a person’s chance of
developing or passing on a genetic disorder.
Types of genetic testing
• Genetic testing can provide information
about a person’s genes and
chromosomes. Available types of testing
include:
• Newborn screening - is used just after
birth to identify genetic disorders that can
be treated early in life.
• Diagnostic testing- is used to identify or
rule out a specific genetic or chromosomal
condition.
Types of genetic testing
• Carrier testing- is used to identify people
who carry one copy of a gene mutation
that, when present in two copies, causes a
genetic disorder.
• Prenatal testing- is used to detect
changes in a foetus's genes or
chromosomes before birth.
• Preimplantation testing- is a specialized
technique that can reduce the risk of
having a child with a particular genetic or
chromosomal disorder.
Types of genetic testing
• Predictive and presymptomatic testing-
Predictive and presymptomatic types of
testing are used to detect gene
mutations associated with disorders that
appear after birth, often later in life.
Why is genetic testing controversial?
• Through genetic testing of large segments of
the population or specific individuals
requesting it, scientists can identify those
whose genes predispose them or their
children to certain diseases or disorders.
• In some cases this knowledge may allow a
person to undergo treatment, in others it may
cause a person to refrain from having
children.
•
Why is genetic testing controversial?
• Unfortunately, though, no cure is currently
possible for the majority of conditions
discovered through genetic testing.
• The practice of genetic testing and
screening has created moral controversies
about who should be tested and what
should be done with the results.
Impacts on the society -
confidentiality
• Genetic tests give an assessment of an
individual's inherent risk for disease and
disability.
• This predictive power makes genetic
testing particularly liable for misuse.
• Employers and insurance companies have
been known to deny individuals essential
health care or employment based on
knowledge of genetic disposition.
Impacts on the society –
confidentiality
• This type of discrimination can be
socially debilitating and have severe
socio-economic consequences.
• Finding the right balance between the
patient’s privacy and confidentiality of
her genetic information, and what is in
the best interests of family members, is
an ongoing ethical and social challenge.
Impacts on the society-
stigmatisation
• Socially, knowledge from genetic tests
may lead to stigmatization and
discrimination within the community.
• Refusing to undergo genetic testing as
well as choosing to undergo genetic
testing can both lead to discrimination and
stigmatization depending on the prevalent
social norms regarding acceptance and
use of the technology.
Impacts on the society-
stigmatisation
• Discrimination can be in the form of denial
of health insurance, employment or simply
social acceptance.
• In particular, knowledge of risk of disease
may be used by health insurance
providers and employers to deny
individuals employment , benefits and
allowances and medical coverage or
health insurance
Ethics in genetic testing
• Ethics is important in many aspects of health
care but is especially critical when the health
care includes genetic testing.
• However , it is impossible to discuss all ethical
principles that may come into play when
dealing with issues raised by available genetic
technologies.
• Yet, the principles of autonomy, informed
consent, privacy/confidentiality, beneficence,
nonmaleficence, and justice are basic to any
discussion of the ethics involved in genetic
testing.
Autonomy
• Autonomy - The right of patients to make
decisions about their medical care without
their health care provider trying to
influence the decision.
• Patient autonomy does allow for health
care providers to educate the patient but
does not allow the health care provider to
make the decision for the patient.
Autonomy
• The duty to respect others' autonomy is
paramount in virtually all ethical
situations.
• Informed consent, one application of
autonomy, includes:
• discussion of the purposes,
• potential benefits, risks, and limitations of
a specific genetic test.
Autonomy
• Autonomy also mandates that decisions be
voluntary and free from coercion.
• The decision to have or not have a genetic
test is widely believed to be a choice each
person should make based on his or her
own values and preferences.
• A third situation in which influencing factors
may threaten autonomy is when social
values potentially conflict with personal
values.
Autonomy
• Dilemmas arise when a person's health
care needs may not be consistent with
values held by others in society.
• Persons with a genetic condition may
prefer not to learn that their offspring is at
risk for the condition, or they may prefer to
have offspring with the same condition
present in other family members.
Autonomy
• Either of these paths result in
consequences that can be devastating.
• This can present an ethical dilemma for
the clinician who must balance respect for
the parents' wishes with his/her need to
ensure that the couple's baby receives
appropriate care.
• Thus, the issue about whether the
individual or society should have priority
may also arise with these dilemmas.
Privacy
• Privacy and confidentiality of genetic
information present complex and
challenging issues that could result in
devastating effects for individuals, families,
communities, and society.
• The sensitive nature of the information
introduces a compelling question:
• What assurances can be made regarding
privacy and confidentiality of the genetic
information?
Privacy
• Indeed, other questions arise that are
consistent with and expand on the
safeguarding of information, such as:
• who owns and controls the information,
• who should have access to the
information,
• how will the information be interpreted and
used,
Privacy
• and how can people be protected from
harm that might result from improper
disclosure or use of the information.
• When a person is identified through family
history as being at risk for an inherited
condition, a genetic test may be available
to clarify their chances of developing that
disease.
• The genetic test results may reveal
information regarding risk for disease of
other biological family members.
Beneficence and
nonmaleficence
• An assessment of risks and benefits is
reflected in the principle of beneficence (to
do good) and the principle of
nonmaleficence (to do no harm).
• These principles are often discussed when
a person is considering participation in
research or treatments that can have
adverse effects.
• However, these principles also apply to
the decision to have a test that will reveal
genetic information about oneself or one's
offspring.
justice
• Justice is the assurance that all people
receive fair and equal treatment.
• In genetic testing, the key elements of
justice are equitable access to genetic
services to all socioeconomic, ethnic, and
geographic groups, and allocation of
scarce resources.
• Although this is a valued ethical principle,
it is weakened by the absence of universal
access to health care in the United States.
justice
• In addition, some genetic tests, such as
preimplantation testing, are performed at
few health centres, are very expensive,
and are usually not covered by
insurance.
Debates on genetic testing
• Genetic Testing. Scientists now have the
ability to analyze your genome and look
for specific traits. In some cases, this is
very simple: If you have an extra copy of
chromosome 21, you will have Down’s
syndrome. But in other cases, it’s not quite
as clear-cut. What if a test can only
• give a probability of developing a
disorder? What about other kinds of
genetic tests, such as a test to see what
kind of sports your child might be good at?
How far should we go with genetic testing?