Genetic testing

Presenter: Shenellie Harry

Course : Medical Ethics

Lecturer : Dr. Haynes

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

Ethical issues in genetic testing

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?