Define ethics and bioethics.
State the major ethical issues related to medical genetics.
Outline the uniqueness of medical genetics.
Outline the relevant ethical principles in medicine.
Discuss some ethical dilemmas that arise in the genetic clinic.
Explain the ethical dilemmas and public interest.
Dr. Najnin Akhter
Phase-A, Year-2, Block-6
Guided by Prof. K M Shamim
Ethical and Legal Issues Related to Medical Genetics
1. “Love overcomes fear and makes us
free to be happy. Vitoria taught us to
love, to be free and find joy in small
things. Through this precious child,
we knew what love really is and what
it is to be truly happy.”
2. Ethical and Legal Issues
Related to Medical Genetics
Dr. Najnin Akhter
Phase-A, Year-2, Block-6
Guided by Prof. K M Shamim
3. Branch of knowledge
that deals with moral principles,
which in turn relate to
principles of right, wrong,
justice and standards of behavior.
( Emery’s Elements of Medical Genetics)
Ethics
4. Biomedical ethics or bioethics
Is an interdisciplinary field
for the systematic study of
ethical issues that arise in
research, medicine and society
(WHO 1992a; UNESCO, 1993)
9. • Define ethics and bioethics
• State the major ethical issues
related to medical genetics
• Outline the uniqueness of medical genetics
Objectives
10. • Outline the relevant ethical principles in medicine
• Discuss some ethical dilemmas
that arise in the genetic clinic
• Explain the ethical dilemmas and public interest
Objectives
12. • Equitable access to services?
• Voluntary, or mandatory counseling?
• What about testing and screening?
• Individual and parental choices to be safeguarded?
• Full disclosure of information?
What Are the Major Issues?
13. • Confidentiality about information?
• Privacy of genetic information from institutional
third parties?
• Directive, or non-directive counseling?
• Non-medical use of prenatal diagnosis?
• What about research and gene therapy?
What Are the Major Issues?
15. • It may affect the entire family
• It may be predictive
• It may affect future generation
• It has a tradition of non-directiveness in counseling
Uniqueness of Medical Genetics
19. Patient should be prevented from
any kinds of harm.
Non-maleficence
General Principles
20. • Patient should be
treated with fairness and equity.
• Benefits and burdens of healthcare
should be distributed fairly.
Justice
General Principles
21. Informed choice
Patient should be fully informed of
all options,
including that of not participating.
General Principles
22. To be obtained for every action
that exposes the patient…..
BUT……
Informed consent
General Principles
23. Patient should be informed of:
aims and methods
selection criteria
duration
benefits and risks
compensation
withdrawal
possible outcome
Informed consent
25. Universality
As human genome is fundamentally
common to all humankind,
there is a shared identity,
and therefore, a shared responsibility.
General Principles
27. Prenatal Diagnosis
Being used to diagnose structural
abnormalities and genetic disorders.
BUT…
where termination of pregnancy is needed
it may raise many difficult issues for
individuals and families.
Ethical Dilemmas in Genetic clinic
28. Predictive Testing in Childhood
Parents sometimes wish to know
whether or not a child has inherited
the gene for a disorder
that runs in the family.
Ethical Dilemmas in Genetic clinic
29. Implications for the Immediate Family
A positive test can have
major implications for close relatives.
Ethical Dilemmas in Genetic clinic
32. Gene Therapy
Using DNA that encodes
a functional gene to replace a mutated gene
and others.
• Somatic gene therapy
• Germ line gene therapy
Ethical Dilemmas and Public Interest
33. Cloning and Stem Cell Research
Using nuclear fusion
to produce new tissues for the
treatment of diseases
but no attempt to reproduce
an entire human being
Ethical Dilemmas and Public Interest
34. 1. Respect for persons and families regarding information.
2. Preservation of family integrity.
3. Full disclosure of all information relevant to health to
individuals and family.
4. Protection of the privacy of individuals and families
from unjustified intrusion.
Ethical Principles Applied to
Genetic Counseling
5. Information to individuals and families about possible
misuses of genetic information by institutional third
parties .
35. 6. Informing relatives about genetic risk .
7. Informing individuals about carrier status.
8. Informing people of their moral duties to disclose
a genetic status that may affect public safety.
9. Unbiased presentation of information,.
Ethical Principles Applied to Genetic Counseling
36. 10. Non-directive approach, except when treatment is
available.
11. Children and adolescents to be involved in
decisions affecting them, whenever possible.
12. Duty to recontact if appropriate and desired.
Ethical Principles Applied to Genetic Counseling
37. Proposed Ethical Guidelines for Genetic
Screening and Testing
1. Genetic screening and testing should be voluntary,
with the exception.
2. Genetic screening and testing should be preceded by
adequate information about purpose and possible
outcomes.
3. Anonymous screening may be conducted after
notification of the population.
4. Results should not be disclosed.
38. 5. In rare cases disclosure may be best
6. Test results should be followed by genetic
counseling, particularly when they indicate the
presence mutation or genetic condition.
7. If treatment or prevention exists or is available, this
should be offered with a minimum of delay.
8. Newborn screening should be mandatory and free
of charge
Proposed Ethical Guidelines for Genetic Screening and Testing
39. Proposed Ethical Guidelines for
Prenatal Diagnosis
1. Equitable distribution of genetics services.
2. Prenatal diagnosis should be voluntary in nature.
3. If prenatal diagnosis is indicated, should be
available regardless of couple's views.
4. Done to give information about the health of the
fetus, for gender selection, is not acceptable.
40. 5. Prenatal diagnosis solely for relief of maternal
anxiety.
6. Counseling should precede prenatal diagnosis.
7. Should disclose relevant findings to the woman or
couple.
8. The woman's and/or couple's choices in a
pregnancy with an affected fetus should be
respected and protected.
Proposed Ethical Guidelines for Prenatal Diagnosis
41. Why Termination of a Pregnancy with an
Affected Fetus is Difficult
1. Wanted pregnancy.
2. Many people attribute moral status at mid-trimester and
at viability.
3. Parents who have already viewed the fetus on
ultrasound.
42. 4. Prenatal diagnosis usually does not predict severity.
5. Longer life spans for some affected persons due to
improved treatment.
6. Could harm the mental health of living children
(siblings of the fetus), who have the same genetic
condition.
Why Termination of a Pregnancy is Difficult
43. Proposed Ethical Guidelines for Access to
Banked DNA
1. A blanket informed consent that allow use of sample
in future.
2. Control of DNA may be familial. Blood relatives may
have access to stored DNA for learning their own
genetic status, but not for learning the donor's status.
3. Family members should have access.
4. DNA should be stored, it could be of benefit to living.
5. Inform families, at regular intervals, of new in
developments in testing and treatment.
44. • Presymptomatic testig
• Susceptibility testing
Proposed Guidelines for Presymptomatic
and Susceptibility Testing
45. 1. Genetic susceptibility testing should be encouraged,
information can be used for prevention or treatment.
2. All susceptibility testing should be voluntary.
3. Should be available for adults at risk, even in the
absence of treatment after proper counselling and
informed consent.
4.Testing of children or adolescents should be carried if
potential benefits, or adolescent request for purposes
of reproductive decision making.
5. Third parties should not be access to test results.
Proposed Guidelines for Presymptomatic and Susceptibility Testing
47. 1. Should be available equally to everyone, provided first
to those whose need is greatest.
2. Counseling should be non-directive.
3. All genetics services should be voluntary with the
exception.
4. Information that may affect the health of an individual or
fetus should be disclosed.
5. Confidentiality should be maintained. But……
6. Individual privacy should be protected from
institutional third parties.
Summary
48. 8. Choices relevant to genetics services.
9. Optimum support…...
10. Adopted children should be able to receive
information from biological relationships.
11. Research protocols should follow established
procedures.
12. Protocols for experimental human gene therapy
should receive national review.
7. Prenatal diagnosis should be performed only in
special situation.
Summary
50. References
• Emery’s Elements of Medical Genetics
• Review of Ethical Issues in Medical Genetics
Report of Consultants to WHO
• BMRC Guidelines for Ethical Conducting Research
Studies Involving Human Subject
63. Ethical Principles Applied to Genetics
1. Fair allocation of public resources to those who most need them.
2. Freedom of choice. The woman should be the final decision makerin
reproductive choices (autonomy)
3. Voluntary approach in services (autonomy).
4. Respect for human diversity and for those whose views are in the
minority (autonomy, non-maleficence).
5. Respect for people's basic intelligence, regardless of their knowledge
(autonomy).
64. 6. Education about genetics for the public, medical and other health
professionals, teachers, clergy and other persons who are
sources of religious information (beneficence).
7. Close cooperation with patient and parent organizations, if such
organizations exist (autonomy).
8. Prevention of unfair discrimination based on genetic information
(non-maleficence).
9. Teamwork with other professionals through a network of referrals.
(beneficence, autonomy).
Ethical Principles Applied to Genetics
65. 10. Use of nondiscriminatory language (autonomy).
11. Timely provision of indicated services or follow-up treatment
(non-maleficence).
12. Refraining from providing tests or procedures not medically
indicated (non-maleficence).
13. Providing ongoing quality control of services (non-maleficence).
Ethical Principles Applied to Genetics
66. .Disclosure and Confidentiality
1. Disclose all test results relevant to their health or the health of a fetus.
Adequate information is a prerequisite for free choice and open
communication.
2. Normal results should be communicated without undue delay.
3. Not directly relevant to health, may be withheld if this appears
necessary to protect a vulnerable.
4. Wishes, not to know genetic information should be respected,
except newborn babies or children for treatable conditions
5. Information that cause harm may be temporarily withheld.
67. 6. If a couple intends to have children should be encouraged to share.
7. Where appropriate, counsellors should inform people information may
be useful to their relatives.
Disclosure and Confidentiality
8. The provision of genetic information to relatives about the family so
as to learn their own genetic risks should be possible, especially
when harm can be avoided
9. Results tests should be kept confidential, should not be penalized or
rewarded for genetic constitutions. Information may be disclosed as
general medical information, in accordance with laws
10. Registries (if any) should be protected by the strictest standards of
confidentiality
68. Proposed Ethical Guidelines for Access to Banked DNA
6. DNA may be destroyed.
7. Spouses should not have access to DNA banks without the donor's
consent, but informed. If considering having children, to provide
any relevant information.
8. Except for forensic purposes, there should be no access without
donor's consent.
9. Qualified researchers should have access.
10. Potentially valuable specimens should be saved and available.
70. . Proposed Guidelines for Counseling
prior to Prenatal Diagnosis
Counselling should include the following points as a minimum:
1. Name(s) and general characteristics of the major disorder(s) that
the test may identify. The list of disorders need not be exhaustive. The
characteristics of the disorder(s) should be described also in
terms of their effects on the future child, on the parents, and on family
life.
2. Possibilities for treatment of the disorder(s) after birth and
availability of supportive care
.
3. Description of the likelihood (risk) that the fetus may have the
disorder(s). Risks should be expressed in several ways (as a percent,
as a proportion, and verbally).
71. 8. Information that the test does not guarantee a healthy baby, because
there are many disorders that cannot be identified before birth, or are not
tested for unless the family is known to be at high risk
9. The medical risks to fetus and mother posed by the testing procedure
.
10. Non-medical risks, if any (e.g., to parental employment or health
care, where applicable).
11. Information that non-invasive screens used early in pregnancy, such
as maternal serum alphafetoprotein (MSAFP), may be the first step on
the road to prenatal diagnosis and a possible decision about abortion.
12. Costs of the test and sources of reimbursement for the mother or
couple, if applicable.
13. Names and addresses of genetic support groups or organizations for
persons with genetic disorders, that people can contact if they wish.
Proposed Guidelines for Counselling prior to Prenatal Diagnosis
72. 4. The possibility of unfavourable test results or of fortuitous or
unexpected findings.
5. Alternatives available for those with an affected fetus, for example,
carrying the fetus to term and caring for the child at home; placing the
child in an institutional setting, if available; placing the child for
adoption; termination of pregnancy; prenatal treatment for the fetus or
early treatment after birth.
6. The possibility of ambiguous laboratory or ultrasonography results.
7. Information that, because most conditions diagnosed in the fetus
cannot be treated before birth, knowing about the existence of a
condition may not help the fetus.
.
Proposed Guidelines for Counselling prior to Prenatal Diagnosis
Notas del editor
should we concern about ethics while studying genetics?