Ethical and Legal Issues Related to Medical Genetics

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

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)

5. Why? It poses particular challenges

6. Does any query come to your mind?

7. Objectives

8. Define ethics and bioethics State the major ethical issues related to medical genetics Outline the uniqueness of medical genetics Objectives

9. 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

10. What Are the Major Issues?

11. 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?

12. 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?

13. Uniqueness of Medical Genetics

14. 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

15. General Principles

16. Patient should take decision Autonomy General Principles

17. Patient should receive highest priority and benefits Beneficence General Principles

18. Patient should be prevented from any kinds of harm. Non- maleficence General Principles

19. Patient should be treated with fairness and equity. Benefits and burdens of healthcare should be distributed fairly. Justice General Principles

20. Informed choice Patient should be fully informed of all options, including that of not participating. General Principles

21. To be obtained for every action that exposes the patient….. BUT…… Informed consent General Principles

22. Patient should be informed of: aims and methods selection criteria duration benefits and risks compensation withdrawal possible outcome Informed consent

23. Confidentiality Patient has the right to full confidentiality BUT…… General Principles

24. Universality As human genome is fundamentally common to all humankind, there is a shared identity, and therefore, a shared responsibility. General Principles

25. Ethical Dilemmas in Genetic Clinic

26. 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

27. 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

28. Implications for the Immediate Family A positive test can have major implications for close relatives. Ethical Dilemmas in Genetic clinic

29. Ethical Dilemmas and Public Interest

30. Genetics and Insurance Information must be protected from……. Ethical Dilemmas and Public Interest

31. Population Screening To offer carrier detection or to compare the genome of the unborn baby with that of the parents. Ethical Dilemmas and Public Interest

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 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 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. 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

46. Summary

47. 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

49. References

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

51. Thank you

52. Informed consent Aims and methods Selection criteria Duration Benefits and risks Compensation Withdrawal

53. Confidentiality Code number Prevent unlimited access Omitting identification Safeguards of data Limitations

54. Inducement

55. Compensation

56. 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 maker in 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).

57. 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

58. 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

59. . 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.

60. 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 Con f identiality 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

61. 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 .

62. Pregnant or nursing women and children

63. . 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).

64. 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

65. 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