6.2. Can International Codes of Ethics Improve Services? 1998 WHO Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services

pp. 82-86 in Bioethics and the Impact of Human Genome Research in the 21st Century

Author: Dorothy C. Wertz (University of Massachusetts Medical School, USA)

Editors: Norio Fujiki, Masakatu Sudo, and Darryl R. J. Macer
Eubios Ethics Institute

Copyright 2001, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author.
Summary

 The WHO Hereditary Diseases Programme published new "Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services" in 1998, based on a December, 1997 meeting of 16 WHO expert advisors from all WHO regions. WHO's purpose was to assist policymakers to protect individuals and families with genetic disabilities and to ensure that applications of genetic research become accessible to all. This new 16-page document represents 100% consensus of all persons present at the meeting, not merely the majority vote.

The 1998 document supports equity of access, individual autonomy in a family context, a voluntary basis for services, full information before and after testing, informed consent, empathic and unbiased counseling. Although it is directed toward services, rather than research, the document includes short sections on DNA banking, patenting, and new reproductive technologies, leaving the door open to future developments. The full document is available at http://www.who.int/ncd/hgn/hgnethic.htm.

A previous 100-page document published in 1995 has been extensively revised and retitled "Review of Ethical Issues in Medical Genetics". This extensive document, written by three of the WHO expert advisors (DC Wertz, JC Fletcher, and K Berg), was published by the WHO Hereditary Diseases Programme in 2001. It addresses concerns of commentators, including Japanese users of genetics services, raised at the WHO-assisted Satellite Symposium on Medical Genetics Services, Nov. 8, 1997 in Fukui.

WHO developed these documents in response to a need for comprehensive ethical guidance useful for practicing clinical geneticists. Most international statements, such as the UNESCO Declaration on the Human Genome and Human Rights, are at a level too general to offer help with most situations that arise in practice. On the other hand, many statements by professional societies, such as the American Society of Human Genetics "Points to Consider" statements, usually focus on particular topics, such as genetic testing of children or APOE4 testing for predisposition to Alzheimer disease. WHO addresses a middle level, applying well-known ethical principles to a wide range of concrete situations and presuming that individual nations will adjust these applications to their religions, cultures and laws.

How Genetics Differs from Other Areas of Medicine

Special guidelines on genetics are necessary because genetics differs from general medicine in several important respects:

Genetics

1). Provides information about other blood relatives.

2). Provides information predicting the future of persons who are now healthy, including children.

3). Provides unexpected nonmedical information, such as nonpaternity.

4). Has a history of "nondirectiveness" in counseling.

5). Offers many tests, but as yet few treatments.

The major ethical problems in clinical genetics are 1) access to and demand for services; 2) voluntary versus mandatory screening and testing; 3) directiveness/nondirectiveness in counseling; 4) individual confidentiality versus duties to warn relatives of possible genetic harm; 5). Protection of privacy from employers, insurers, government agencies, other institutional third parties; 6) protection of people's choices, especially reproductive choices; 7) controversial uses of prenatal diagnosis, such as sex selection; 8) testing children for disorders of adult onset; 9) disclosure of accidental findings of nonpaternity; 10) disclosure to individuals of psychologically sensitive information or ambiguous test results.

A. Goals and Ethical Principles

The purposes of the document are to assist policymakers, public health officials, and practitioners in WHO member nations to include genetic services in broader medical practice in ethically acceptable ways, to allay fears and reassure the public that sufficient controls exist in WHO member nations to prevent abuses. WHO intends that member nations may develop their own policies, using broader principles of the document. According to WHO, the goal of medical genetics is to help people and families with genetic disadvantages to live and reproduce as normally as possible.

The "Proposed International Guidelines" are based on well-known ethical principles in medicine:

1. Respect for the autonomy of persons

2. Beneficence

3. Non-maleficence

4. Justice

Although these are Western principles, participants at the meeting believed that they are universally known and are generally compatible with other systems of ethics.

B. Application of the Four Ethical Principles to Genetic Services means:

 1. Fair allocation of public resources.

2. Freedom of choice. The woman should be an important decision-maker in reproductive matters. (The longer document says she should be the "final" decision-maker.)

3. A voluntary approach to testing and treatment.

4. Respect for human diversity.

5. Respect for people's basic intelligence.

6. Education about genetics for the public, medical professionals, and others.

7. Cooperation with patient organizations.

8. Prevention of discrimination in employment, insurance, and schooling.

9. Teamwork among professionals, who should help individuals and families become informed members of the team.

10. Nondiscriminatory ("person-first") language that describes people as persons first of all, instead of "cases" or "diseases".

11. Timely provision of services.

12. Refraining from procedures that are not medically indicated, such as sex selection in the absence of sex-linked disorders.

13. Ongoing quality control.

 C. Genetic counseling should be nondirective. Nondirectiveness has two basic elements:

 1. Accurate, full, unbiased information.

2. An understanding, empathic relationship that offers guidance and helps people work toward their own decisions.

Nondirective counseling does not mean simply providing information and then leaving people to struggle with their decisions alone. The counselor should try to help people find the course of action that is best for them in the light of their own values and goals. To this end, it is important that information be as balanced and unbiased as possible. Presenting biased information as "fact" undermines people's autonomy. Few laypeople have the knowledge to question the word of a presumed expert.

D. Genetic Counseling should include the following:

  1. Respect for persons and their decisions.

  2. Accurate and unbiased information

  3. Preservation of family integrity.

  4. Full disclosure of information relevant to health.

  5. Protection of privacy from employers, insurers, and schools.

  6. Warnings about possible misuses of information.

  7. Telling individuals that it is their ethical duty to tell blood relatives that the relatives may be at risk.

  8. Informing individuals of the wisdom of their disclosing their carrier status to their spouse or partner if children are intended.

9. Telling people of their duties to disclose conditions affecting public safety.

10. Unbiased presentation of information.

11. A nondirective approach, except when treatment is available.

12. Involving children and adolescents in decisions affecting them.

13. A duty to recontact individuals and families if new tests or treatments are developed.

 E. Genetic Screening and Testing should be:

 1. Voluntary, not mandatory.

2. Preceded by adequate information.

3. Confidential. Results should not be disclosed to employers, insurers, or other institutional third parties without the person's consent.

4. Protective of both individuals and public safety. If disclosure is in the best interests of public safety, the provider works with the individual toward a decision by that individual.

5. Followed by genetic counseling after all "unfavorable" results.

6. Followed by an offer of affordable treatment or prevention, if applicable, without delay.

7. Mandatory and free of charge for newborns, but only if early diagnosis and treatment benefits the newborn.

E. Informed Consent

Informed consent in a clinical context is less detailed than informed consent in a research context, and includes fewer elements, because the validity of the test has already been established. However, all types of informed consent are based on the premise of full disclosure to patients. (Patients are nevertheless free to change their minds after taking a test and to decide that they do not want to know the results.)

Testing in clinical practice requires an explanation of:

1. Purpose of the test

2. Predictive value

3. Implications of results for individual and family

4. Options and alternatives

5. Risks and benefits, including social and psychological

6. Possible discrimination by insurers and employers

7. Care will not be jeopardized by decisions about testing.

G. Presymptomatic and Susceptibility Testing should be:

 1. Encouraged for persons with a family history of heart disease, cancer, or other common diseases, if the information can be used for prevention or treatment.

2. Voluntary, with informed consent.

3. Available on request, even in the absence of treatment.

4. Performed on children and adolescents only if there are medical benefits to the child.

 H. Disclosure and Confidentiality: Providers should

1. Disclose all health-relevant information to tested persons.

2. Provide all test results without delay.

3. If necessary to protect vulnerable parties, withhold results not relevant to health, such as accidental findings of non-paternity or fetal sex.

4. Respect wishes not to know

5. If necessary, withhold information that could cause grave psychosocial harm, but only on a temporary basis, until the person is ready to receive the information. The presumption is for full disclosure.

6. Encourage people to share information with their partners, if children are intended.

7. Tell people that genetic information may be useful to relatives and ask them to ask their relatives to seek genetic counseling.

8. Keep test results confidential. (Information about a symptomatic condition may be disclosed as part of general medical information.)

9. Be responsible for genetic registers, if such exist. Registers should be in the hands of clinicians, not governments.

 I. Prenatal Diagnosis should be:

 1. Equitably distributed, regardless of ability to pay.

2. Voluntary.

3. Offered if medically indicated, and available regardless of a couple's views on abortion. It may be used to prepare for the birth of a child with a disorder.

4. Used only for information about fetal health. Gender selection (except for X-linked disorders) is not acceptable.

5. Available first to those with medical indications. Prenatal diagnosis solely for maternal anxiety should have lower priority than prenatal diagnosis with medical indications.

6. Preceded by counseling.

7. Followed by disclosure of all clinically relevant findings.

8. Provided in an atmosphere of respect for persons. People's choices should be respected and protected, within the law and culture of the country. The couple, not the professional, should decide.

 J. Counseling before prenatal diagnosis should include:

 1. The names and general characteristics of major disorders that the test may identify, and the disorder's effects on the child, parents, and family life.

2. Treatment possibilities.

3. The likelihood (risk) that the fetus may have the disorder. This should be expressed as both percent and proportion.

4. The possibility of unfavorable or unexpected results.

5. Alternatives, including caring for the child at home, institutional settings, placement for adoption, or termination of pregnancy.

6. The possibility of ambiguous results.

7. The test may not help the baby.

8. The test does not guarantee a healthy baby.

9. Medical risks of testing for fetus and mother.

10. Non-medical risks (to parental employment or health insurance).

11. Maternal blood tests, such as maternal serum alphafetoprotein, may be a first step toward prenatal diagnosis and a possible decision about abortion.

12. Costs of test.

13. Names and addresses of genetic support groups.

 K. Banked DNA

 1. Control of DNA may be familial as well as individual. Blood relatives may have access.

2. Relatives may have access regardless of whether they contributed financially to the banking of a family's DNA.

3. DNA should be stored as long as it may benefit living family members.

4. Donors should be recontacted in the event of new tests or treatments.

5. There should be no access for spouses without the individual's consent.

6. There should be no access for institutions, even with consent (except for forensic or public safety purposes).

7. Researchers may have access if all identifiers are removed.

 L. Research issues:

 1. Blanket consent for use of stored DNA in future, as yet unspecified projects is the most efficient and economical approach and avoids costly recontact.

2. No patenting of gene sequences without proven utility.

3. Equity requires that groups providing genetic materials that lead to commercial products should receive some benefits in return.

 M. Assisted reproduction:

 Reproductive alternatives offered must be consistent with cultural traditions and beliefs in each country and also with respect for personal autonomy. Reproductive human cloning is not in accord with currently accepted international ethical standards.

N. Summary of the document's major points:

1. Equal access to available services.

2. Nondirective counseling.

3. Voluntary rather than mandatory services (except for newborn screening that benefits the newborn).

4. Full disclosure of clinically relevant information

5. Confidentiality, except when information could avert serious genetic harm to family.

6. Privacy from employers, insurers, etc.

7. Prenatal diagnosis only to ascertain the health of the fetus.

8. Availability of and respect for choices, including abortion choices.

9. Children to be tested only when testing may provide a medical benefit to the child. The Guidelines apply equally to adopted children.

10. Research follows ethical protocols, includes informed consent, and undergoes ethical review. These guidelines include preimplantation diagnosis and other assisted reproductive technologies in the research stage.

11. National review for gene therapy protocols.

 WHO Expert Advisors

The names of the 16 international consultants who wrote the guidelines appear below:

Professor O.O. Akinyanju, College of Medicine, University of Lagos, P.M.B. 12003, Lagos, Nigeria.

Professor K. Berg, Director, Institute of Medical Genetics, University of Oslo; and Director, Department of Medical Genetics, Ulleval University Hospital, P.O. Box 1036 Blindern, N-0315 Oslo, Norway (Chair)

Dr J.M. Cantu Garza, Chief, Genetics Division, Centro de Investigacio Biom_dica de Occidente, Instituto Mexicana del Seguro Social, Siena No. 1068 Lomas de Providencia, Guadalajara, Jalisco, Mexico

Professor M.A.F. El-Hazmi, Department of Medical Biochemisty, College of Medicine and King Khalid University Hospital, P.O. Box 2925, Riyadh 11461, Saudi Arabia

Professor D.D. Farhud, Head, Unit of Human Genetics & Anthropology, University of Teheran, School of Public Health & Institute of Public Health Research, P.O. Box 1310, Teheran, Islamic Republic of Iran

Professor J.C. Fletcher, Professor of Biomedical Ethics, The Center for Biomedical Ethics, Box 348, Health Sciences Center, University of Virginia, Charlottesville, VA 22908, USA (Co-Rapporteur)

Professor N. Fujiki, Professor Emeritus, Fukui Medical School, Shimoaizuki, Matsuoka-cho, Fukui Prefecture, 910-11 Japan.

Professor H. Hamamy, Professor of Medical Genetics, Mustansiriya College of Medicine, Baghdad, Iraq.

Professor V.I. Ivanov, Director, National Research Centre for Medical Genetics, Moskvorechie str., Moscow 115478, The Russian Federation

Professor B.M. Knoppers, Centre de recherch_ en droit public, Facult_ de droit, Universit_ de Montr_al, C.P. 6128, succursale A. Montr_al, Qu_bec, Canada. H3C3J7

Dr. Xin Mao, Division of Genetics, Department of Psychiatry, West China University of Medical Sciences, Chengdu 610041, China and Eurasia Millennium, Ltd., 207 Nash House, Poynders Gardens, London SW4 8PH,UK

Professor J.F. Mattei, Centre de G_n_tique M_dicale. H_spital d'Enfants de la Timone, F-13385 Marseille Cedex 5, France

Professor V.B. Penchaszadeh, Director, Division of Medical Genetics, Beth Israel Medical Center, First Avenue at 16th Street, New York, NY 10003, USA

Professor I.C. Verma, Head, Department of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110060, India

Professor D.C. Wertz, Division of Social Science, Ethics and Law, Eunice Kennedy Shriver Center for Mental Retardation, Inc., 200 Trapelo Road, Waltham, MA 02452, USA (Co-Rapporteur)

Professor R. Williamson, Director, The Murdoch Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, VC 3052, Australia.

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