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Preface
The following rationale for preparing guidelines on ethical
issues in medical genetics and genetic services appears in a
document of the World Health Organization on Ethics and Health
at the Global Level: WHO's Role and Involvement [1]:
"A great number of international committees, commissions and
advisory groups and many reports and guidelines have been produced
on specific biomedical issues. In dealing with ethics, WHO will
not duplicate what has been done or is being done in existing
national or regional forums. WHO's involvement in ethics will
be directly derived from its global mission, its inclusive vision
of health, and its responsibility for coordinating international
health action.
Cutting across specific health issues and disciplines, WHO's
main aim must be to enhance the integration of ethics in overall
public health policies and practices as well as in international
health cooperation. Perhaps the most pressing reason for this
is to promote greater equity in access and use of health services
by all individuals and in all countries. WHO will contribute
to coordinating national and regional approaches, identifying
gaps and workable solutions, and promoting harmonization of
standards and practices at a global level."
To this end, the WHO Human Genetics Programme developed the
draft document "Guidelines on Ethical Issues in Medical Genetics
and the Provision of Genetics Services" [2]. This document
was circulated worldwide, and comments were received from all
Regions and WHO staff. The draft document and all responses
received formed the background information for a WHO Meeting
on "Ethical Issues in Medical Genetics" held in Geneva from
15 to 16 December 1997. The participants at the meeting were
experts in this field from both developing and developed countries.
The purpose of the meeting was to review ethical issues in
medical genetics and to propose international guidelines on
ethical issues in medical genetics and genetic services. These
proposed guidelines, which were unanimously adopted by the participants
in this meeting, appear below.
List of Experts
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 (Chairman)
Dr J.M. Cant� Garza, Chief, Genetics Division,
Centro de Investigaci�n 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
Biochemistry, 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 recherche
en droit public, Facult� de droit, Universit� de Montr�al, C.P.
6128, succursale A, Montr�al, Qu�bec, Canada H3C 3J7
Dr Xin Mao, Division of Genetics, Department
of Psychiatry, West China University of Medical Sciences, Chengdu
610041, China and Section of Molecular Carcinogenesis,
Haddow Laboratories, Institute of Cancer Research, 15 Cotswold
Road, Sutton, Surrey SM2 5NG, UK
Professor J.-F. Mattei, Centre de G�n�tique
M�dicale, H�pital 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 02254, USA (Co-Rapporteur)
Professor R. Williamson, Director, The Murdoch
Institute, Royal Children's Hospital, Flemington Road, Parkville,
Melbourne, VC 3052, Australia
Council for international
Organizations of Medical Sciences (CIOMS)
Dr J. Gallagher, Consultant
WHO Secretariat
Dr Hu Ching-Li, Chairman, WHO Steering Group
on Ethics and Health
Dr B.G. Mansourian, Director, Office of Research
Policy and Strategy Coordination
Dr N. Biros, Director General's Executive Secretariat
Dr V. Boulyjenkov, Human Genetics, Division
of Noncommunicable Diseases (Secretary)
Mr S.S. Fluss, Office of Health Policy in Development
Miss G. Pinet, Health Legislation
List of Contents
EXECUTIVE SUMMARY
1. Introduction
2. Ethical Principles in Medicine
3. Goals and Practices of Medical Genetics
4. Application of Ethical Principles to Genetic Services
5. Genetic Counselling
6. Genetic Screening and Testing
7. Informed Consent and Genetic Testing
8. Presymptomatic and Susceptibility Testing
9. Disclosure and Confidentiality
10. Prenatal Diagnosis
11. Banked DNA
12. Assisted Reproduction and Medical Genetics
13. Acknowledgements
14. References
EXECUTIVE SUMMARY
The contents of this document were unanimously agreed upon
by the experts present at the meeting. The rapid developments
in the area of genetics make it necessary to continue discussions
as new developments take place. For this reason, it is likely
that the proposed guidelines will need modifications at certain
intervals. The group felt that it is important for WHO to provide
leadership in the international debate on issues related to
ethics and the provision of medical genetics services.
The recommendations that follow are designed to assist decision-makers
at both national and international levels to protect people
and families with genetic disabilities, to recognize the great
potential of advances in human and medical genetics for public
health, and to develop policies and practices that will ensure
that these applications can become accessible to all and are
provided with due regard to ethics and justice worldwide.
The advances in human genetics that have occurred during the
past twenty years have revolutionized knowledge of the role
of inheritance in health and disease. We now know that our DNA
determines not only the cause of catastrophic single-gene disorders,
which affect millions of persons worldwide, but also predisposition
to cancer, heart disease, psychiatric disorders and even to
some infectious diseases.
When used properly, this knowledge will be extremely important
in helping to achieve better health for people in all countries.
However, these advances will only be acceptable if their application
is carried out ethically, with regard to autonomy, justice,
education and the beliefs and laws of each nation and community.
Genetics teaches that there is no such thing as a "superior"
or "inferior" genome; humankind depends for its richness and
its survival on the interaction of its complex genetic diversity
with the environment.
General ethical considerations. The medical application
of genetic knowledge must be carried out with due regard to
the general principles of medical ethics; doing good to individuals
and families, not doing harm, offering autonomy of choice after
information is given, and facilitating personal and social justice.
These principles, which have often been outlined by WHO and
other groups, are the same as in other medical fields.
The proper use of genetic data. Since we inherit our
genes from our parents, pass them on to our children, and share
them with our close and distant relatives, every genetic diagnosis,
test and procedure involves many people.
It is ethically imperative that genetic data should only be
used to the advantage of members of a family or ethnic group,
and never to stigmatize or discriminate against them.
Voluntary use of genetic screening and testing. There
shall be no compulsory genetic testing of adult individuals
or populations.
Every test shall be offered in such a way that individuals
and families are free to refuse or accept according to their
wishes and moral beliefs.
All testing should be preceded by adequate information about
the purpose and possible outcomes of the test and potential
choices that may arise.
Children shall only be tested when it is for the purpose of
better medical care, as in the case of newborn screening when
early treatment will be of benefit to the child.
Prenatal testing. Prenatal diagnosis should be offered
to those who need it, but there must be no pressure on couples
to accept such testing, nor to use the results of the test to
compel either continuing or terminating a pregnancy when the
fetus is affected with a genetic disorder.
Decisions in the context of reproduction should rest with those
being tested, not with physicians or the government.
The woman should be an important decision-maker in all matters
related to reproduction.
Prenatal diagnosis should be done only to give parents and
physicians information about the health of the fetus; its use
for paternity testing, except in cases of rape or incest, or
for gender selection, apart from sex-linked disorders, is not
acceptable.
Justice demands equitable access to services. Genetic
services for the prevention, diagnosis and treatment of disease
should be available to all, without regard to ability to pay,
and should be provided first to those whose needs are greatest.
Genetic data should be treated as confidential at all times.
Genetic data should only be used to advantage and empower an
individual or family, and for better treatment or prevention
of disease. Data relevant to health care should be collected
and kept by medical geneticists in secure confidential files.
Genetic data should not be given out to insurance companies,
employers, schools or governments, other than after the full
informed consent of the person tested. In some countries it
may be possible, or necessary, to protect both confidentiality
and non-discrimination through legal means.
Genetic counselling is the provision of accurate, full
and unbiased information in a caring, professional relationship
that offers guidance, but allows individuals and families to
come to their own decisions. Counselling is essential before
any genetic testing is carried out, and should continue afterwards
if the results entail choices for the person and family tested.
Genetic counselling should be available to all, and should
be as non-directive as possible.
Education about genetics for the public and health care
professionals is of paramount importance.
Genetics is playing an increasingly important part in medical
practice, and many people are concerned about possible abuse
of this new knowledge. It is important that education about
genetic principles relevant to human health be emphasized appropriately
for all people in all cultures.
Education is a two-way process, and geneticists and other
health care professionals have much to learn from support and
advocacy groups representing those with genetic disorders. Such
groups are an integral part of genetic services, and should
be guaranteed a voice in policy and education.
In conclusion, WHO and its constituents are urged to
consider these issues as a matter of priority, to facilitate
global consultation and consensus on them, and to ensure that
ethical codes are put in place nationally and internationally
so as to guarantee that advances in genetics can benefit the
community in an ethical way. It was agreed that WHO and many
other international bodies are correct in rejecting any intentional
step towards human cloning as unsafe, ethically unacceptable
and a distraction from the more crucial issues dealt with in
these guidelines.
1. INTRODUCTION
The proposed guidelines are intended to protect people and
families with genetic conditions and to inform health policy
officials at the highest level of government, public health
officials and workers, and physicians and other health care
professionals.
The document should also be seen as a contribution to WHO's
consideration of "Health Policy for the 21st Century," especially
since it concerns global issues of equity in access to medical
genetics services by all individuals and in all countries. One
of WHO's main aims must be to further the integration of ethics
in overall health policies and practices as well as in international
health cooperation.
The primary purpose of these proposed guidelines is to assist
policy-makers, officials, practitioners and other health workers
in the Member States of WHO in ensuring that genetic information
and genetic services are introduced into the broader medical
practice of the nations in ethically acceptable ways. A secondary
purpose is to allay fears and to reassure the public that adequate
controls exist in member countries to prevent abuses of genetic
information and unacceptable practices. Member States will develop
their own policies and practices, using the broader principles
and guidelines of this document as points of departure.
The knowledge gained from discoveries in human genetics has
the potential for making a significant improvement in the health
of the world's people when applied properly at the individual,
family and community levels. If such discoveries and information
are integrated into primary health care in ethically acceptable
ways and with respect for cultural and religious diversity,
the increased benefits for diagnosis, treatment and prevention
of human genetic conditions will be appreciable in both developed
and developing countries.
Genetics and biomedical technology open vast new avenues for
research and can provide humankind with much needed therapeutic
tools. But, where human life and dignity are at stake, technology
cannot be left on its own to govern ethics, nor can health technology,
practices and procedures be left to the vagaries of economic
forces and personal interests, fears or vulnerabilities. The
profound economic and technological inequalities that exist
between nations and population groups have an impact on biomedical
research and health care practice. Efforts must be made worldwide
to mitigate such inequalities, so that the safety and rights
of all individuals and communities are adequately protected
and a proper balance is achieved between their rights and responsibilities.
In pursuing this task, it was recognized that some ethical
problems of human genetics are highly debatable and -- at this
time in history -- are issues beyond the reach of practical
consensus among countries. The meeting was convened to explore
the possibility of reaching moral consensus on such issues,
but it could not produce consensus where this does not exist
in the international community. We recognize that the laws of
nations differ with respect to these particular issues, and
that laws are subject to debate, evolution and change.
In the face of such controversial issues, our view is not that
WHO is obliged to resolve these controversies, but that WHO
can call for international unity among leaders and peoples as
regards the task of including genetic knowledge and its discoveries
within the goals of medicine. We recognize and respect the diversities
of culture, religion and social structure that shape the public's
moral attitudes in different countries. We also call for mutual
respect and continued dialogue on such issues among scientifically
informed members of the world's cultural and religious traditions,
and for an exchange of views between developed and developing
countries.
Educating the public should be a primary goal of WHO, and education
is a prerequisite to informed discussion of the issues in this
document. WHO should play a leading role in providing a platform
for public discussion of ethics and genetics worldwide.
2. ETHICAL PRINCIPLES IN MEDICINE
The traditional sources of ethical guidelines in medicine apply
also to medical genetics, which is a field of medicine (Table
1). Medical genetics' main concerns, however, extend beyond
those of the traditional structure of medicine and the physician-patient
relationship. For example: (a) genetic information may affect
an entire family, rather than only the individual; (b) genetic
discoveries may be predictive of future adverse events in an
individual's or family member's health; (c) genetic information
and the choices of the present may affect future generations;
and (d) medical genetics has a tradition of non-directiveness
in counselling.
Table
1. Relevant Ethical Principles in Medicine
Respect for the autonomy
of persons: respecting the self-determination
of individuals and protecting those with diminished
autonomy;
Beneficence: giving
highest priority to the welfare of persons and maximizing
benefits to their health;
Non-maleficence: avoiding
and preventing harm to persons or, at least, minimizing
harm;
Justice: treating persons
with fairness and equity, and distributing the benefits
and burdens of health care as fairly as possible in
society.
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The principle of respect for autonomy includes: (a) respecting
the self-determination and choices of autonomous persons, and
(b) protecting persons with diminished autonomy, e.g., children
and persons with mental impairments.
The principle of beneficence (L. "bene" = good) is the source
of physicians' obligation to give highest loyalty to the welfare
of individuals and families. Beneficence also bears upon a goal
of medicine to improve the health of populations with the voluntary
cooperation of the populations involved.
Non-maleficence (L. "male" = evil, harm) is the source of the
traditional medical norm of "do no harm", meaning a duty to
prevent harm altogether, or, if harm cannot be avoided, to minimize
harm to individuals and families.
The goals of justice can be described somewhat differently:
treating persons fairly, giving persons what they deserve, or
giving persons that to which they are entitled. The term "distributive"
(or social) justice means to allocate benefits (e.g., property)
and burdens (e.g., taxation) fairly and with equity, in
order to enhance social harmony and cooperation. Distributing
the benefits (e.g., of diagnosis and treatment) and the
burdens (e.g., of rationing of expensive care or of research
risks) of health care ought to be governed by ethically justified
rules such as: to each according to need, to each according
to an equal share or opportunity, etc.
At present, the principles laid out in Table 1 are not applied
with equal force around the world, especially respect for persons.
Health professionals need to pay special attention to these
principles in areas of the world where they are unfamiliar or
infrequently used.
It is a common misconception that prevention and care of genetic
disorders and birth defects concern only people living in industrialized
countries. Genetic conditions occur with similar frequencies
in different nations and irrespective of the socioeconomic status
of individuals. In fact, at all levels of society, children
born with genetic disadvantages have higher risks of getting
sick and dying of environmental causes such as infections and
malnutrition. A meaningful right to health care must include
access to services for the diagnosis, treatment and prevention
of genetic disorders. The priority assigned to genetic services
with respect to other health services is a matter of public
health policy in each country.
WHO Member States should be encouraged to draw up public health
policies that include standards for genetic services along the
lines recommended in the Report of a WHO Scientific Group on
Control of Hereditary Diseases [3]. People have the right to
equitable access to genetic services according to the standard
of care that exists in each country, according to need and irrespective
of the ability to pay. Also, some parties, such as women, children
and people with disabilities, are especially disadvantaged and
vulnerable in some societies and deserve special consideration.
Professionals should help to protect such persons wherever they
are at risk of harm.
Within genetic services, priority should be given to programmes
that address the heaviest burdens and needs of the majority
of the population. In particular, efforts should be directed
towards extending the reach of genetic services at the primary
care level, with the utilization of technologies and personnel
that are appropriate to the needs, expectations and beliefs
of the community. On the other hand, it is an inequitable use
of scarce resources to develop expensive high technology services
that cater only to the wealthier sectors of society while being
largely inaccessible to the majority.
The principle of distributive justice should ensure that scarce
resources are utilized equitably on the basis of need, and thus
would oppose catering to consumers' requests for genetic services
(e.g., prenatal diagnosis) to gratify cultural or personal
desires rather than for medical reasons.
3. GOALS AND PRACTICES OF MEDICAL GENETICS
Medical genetics is the field of medicine that is most centrally
involved in providing services to persons with genetic conditions
and their families. The goals of medical genetics services are
to help people with a genetic disadvantage and their families
to live and reproduce as normally as possible, to make informed
choices in reproductive and health matters, to assist people
to obtain access to relevant medical services (diagnostic, therapeutic,
rehabilitative or preventive) or social support systems, to
help them adapt to their unique situation, and to become informed
on relevant new developments.
Conditions studied by medical geneticists include diseases
caused by defects in single genes (e.g., haemophilia, sickle
cell anaemia, neurofibromatosis, cystic fibrosis), disorders
caused by interaction between several genes and environmental
factors (e.g., common congenital malformations, diabetes, hypertension,
cardiovascular disease, breast cancer, mental disorders), and
conditions caused by chromosomal anomalies (e.g., Down syndrome).
Diagnostic work in medical genetics includes laboratory work
at the DNA, protein and chromosome levels as well as clinical
observation of disorders, including birth defects.
Whereas single-gene disorders are rare, conditions caused by
an interaction between genes and environmental factors are frequent
and include disorders such as cardiovascular diseases, several
cancers, asthma, diabetes mellitus and mental disorders. Preventive
aspects of work in medical genetics include identification of
high-risk individuals with respect to common disorders for the
purpose of preventing disease (e.g., heart disease) or securing
early diagnosis and treatment (several cancers). At present
there are significant research efforts aimed at developing somatic
cell gene therapies or therapies to improve or block the function
of genes.
Medical genetics services should be organized at all levels
of medical care and should be directed by specially trained
physicians. Actions may be conducted by a variety of health
personnel according to the level of care and the particular
organization of health delivery in each society. The different
members of the genetics team may include Ph.D geneticists, nurses,
primary care physicians, other health professionals, specially
trained health care workers or genetic counsellors, social workers
and laboratory personnel.
4. APPLICATION OF ETHICAL PRINCIPLES TO
GENETIC SERVICES
The application of the above-mentioned ethical principles to
genetic services is illustrated in Table 2.
Table 2. Ethical
Principles Applied to Genetic Services
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Fair allocation of public resources to those who most
need them (justice).
!
Freedom of choice in all matters relevant to genetics.
The woman should be an important decision-maker in
reproductive matters (autonomy).
!
Voluntary approach necessary in services, including
approaches to testing and treatment; avoidance of
coercion by government, society or physicians (autonomy).
!
Respect for human diversity and for those whose views
are in the minority (autonomy, non-maleficence).
!
Respect for people's basic intelligence, regardless
of their knowledge (autonomy).
!
Education about genetics for the public, medical and
other health professionals, teachers, clergy and other
persons who are sources of religious information (beneficence).
!
Close cooperation with patient and parent organizations,
if such organizations exist (autonomy).
!
Prevention of unfair discrimination or favouritism
in employment, insurance or schooling based on genetic
information (non-maleficence).
!
Teamwork with other professionals through a network
of referrals. When possible, help individuals and
families to become informed members of the team (beneficence,
autonomy).
!
Use of non-discriminatory language that respects individuals
as persons (autonomy).
!
Timely provision of indicated services or follow-up
treatment (non-maleficence, beneficence).
!
Refraining from providing tests or procedures not
medically indicated (non-maleficence).
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Providing ongoing quality control of services, including
laboratory procedures (non-maleficence).
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Non-discriminatory language emphasizes the personhood
of those with genetic conditions. Thus, for example, someone
with Down syndrome is best described as a "person (or child)
with Down syndrome" rather than a "Down syndrome child" or "Down
syndrome case." Words that dehumanize persons with disabilities
or stigmatize them should be avoided.
5. GENETIC COUNSELLING
Non-directive counselling has two major elements. The first
is the provision of accurate, full and unbiased information
that individuals and families may use in making decisions. The
second is an understanding, empathic relationship that offers
guidance and helps people to work towards their own decisions.
In non-directive counselling, the professional avoids purposely
slanting information that may lead people to do what the counsellor
thinks best. Individuals and families must depend on the counsellor
as a source of accurate information, and usually have no way
of discovering when information is biased. Non-directive counselling
does not mean presenting information and then abandoning individuals
and families to make their own decisions without help. Most
people may want to talk with someone who will listen to their
concerns, help them to express and understand their own values,
and help them to work toward their own decisions. Non-directive
counsellors do not tell people what to do; decisions are those
of the individuals and the families. The counsellor should,
as much as possible, support all decisions.
One factor in favour of non-directive counselling was that
genetics evolved as a largely diagnostic speciality with little
treatment. As more treatments become available, and as susceptibility
testing for common multifactorial diseases may suggest lifestyle
changes that could benefit the individual's health, the counselling
approach may become similar to approaches in general medicine,
where the doctor may recommend beneficial treatment or lifestyle
changes. Counselling related to reproductive choices should
remain non-directive. The ethical principles that underlie genetic
counselling and their applications are outlined in Table 3.
Table 3. Ethical
Principles Applied to Genetic Counselling
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Respect for persons and families, including full disclosure,
respect for people's decisions, and accurate and unbiased
information (autonomy).
!
Preservation of family integrity (autonomy, non-maleficence).
!
Full disclosure to individuals and families of all
information relevant to health. (non-maleficence,
autonomy).
!
Protection of the privacy of individuals and families
from unjustified intrusions by employers, insurers,
and schools (non-maleficence).
!
Information to individuals and families about possible
misuses of genetic information by institutional third
parties (non-maleficence).
!
Informing individuals that it is the individual's
ethical duty to tell blood relatives that the relatives
may be at genetic risk (non-maleficence).
!
Informing individuals about the wisdom of disclosing
their carrier status to a spouse/partner if children
are intended, and the possibility of harmful effects
on the marriage from
disclosure (non-maleficence).
!
Informing people of their moral duties to disclose
a genetic status that may affect public safety (non-maleficence).
!
Unbiased presentation of information, insofar as this
is possible (autonomy).
!
Non-directive approach, except when treatment is available
(autonomy, beneficence).
!
Children and adolescents to be involved in decisions
affecting them, whenever possible (autonomy).
!
Duty to re-contact if appropriate and desired (non-maleficence,
beneficence, autonomy).
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Full disclosure of test results includes ambiguous test results,
new and controversial interpretations, and differences among
professional colleagues in regard to test interpretation.
Re-contact means keeping abreast of new developments and re-contacting
individuals or families on a timely basis regarding any new
developments relevant to their health or reproduction, unless
otherwise instructed by the individual or family.
6. GENETIC SCREENING AND TESTING
Genetic screening refers to tests offered to a population group
to identify asymptomatic people at an increased risk from a
particular adverse outcome. Examples are phenylalanine screening
for phenylketonuria in newborn babies, or the use of maternal
serum biochemical markers in pregnant women to screen for fetuses
with Down syndrome. In all cases, individuals whose screens
indicate that they are at higher risk must be offered a definitive
diagnostic test.
Genetic testing is the analysis of the status of a particular
gene. A genetic test may establish: (a) a specific diagnosis
of a genetic condition in a symptomatic individual, (b) the
certainty that a particular condition will develop in an individual
who is asymptomatic at the time of the testing (presymptomatic
diagnosis), or (c) the presence of a genetic predisposition
to develop a particular complex disease such as cancer or cardiovascular
disease.
The main objective of genetic screening and testing is to prevent
disease or secure early diagnosis and treatment.
Ordinarily, population screening programmes are offered only
when proven methods of treatment or prevention are available.
In selecting population groups to be screened because they are
thought to have higher than average risks, it is important to
avoid the possibility of stigmatizing the entire group. Anonymous
screening for epidemiological purposes may be conducted after
notification of the population to be screened, in the absence
of preventive or therapeutic options for the individuals screened.
Screening programmes are usually better received if they work
in cooperation with community leaders in the group to be screened.
Screening should be preceded by educational programmes for the
group.
If screening is provided for newborn babies, there is an obligation
on health care providers to make sure that appropriate and timely
treatment is provided. Suggested ethical guidelines for screening
and testing are listed in Table 4.
Table 4. Proposed
Ethical Guidelines for Genetic Screening and Testing
!
Genetic screening and testing should be voluntary,
not mandatory, with the exception noted in the last
point below (autonomy);
!
Genetic screening and testing should be preceded by
adequate information about the purpose and possible
outcomes of the screen or test and potential choices
to be made (autonomy, non-maleficence);
!
Anonymous screening for epidemiological purposes may
be conducted after notification of the population
to be screened (autonomy);
!
Results should not be disclosed to employers, insurers,
schools or others without the individual's consent,
in order to avoid possible discrimination (autonomy,
non-maleficence);
!
In rare cases where disclosure may be in the best
interests of the individual or of public safety, the
health provider may work with the individual towards
a decision by him or her (beneficence, non-maleficence,
justice);
!
Test results should be followed by genetic counselling,
particularly when they are unfavourable (autonomy,
beneficence);
!
If treatment or prevention exists or is available,
this should be offered with a minimum of delay (beneficence,
non-maleficence);
!
Newborn screening should be mandatory and free of
charge if early diagnosis and treatment will benefit
the newborn (beneficence, justice).
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7. INFORMED CONSENT AND GENETIC TESTING
The ethical requirement of informed consent differs between
a research setting and a clinical situation. International ethical
guidelines for research [4] are applicable to efforts to establish
new genetic tests or to develop quality control of tests [5],
as well as to other research-related situations. Informed consent
for any study to validate a genetic test must be obtained if
the specimen can be linked to the person from whom it was taken.
People should be informed of possible future uses of the specimen,
whether identifiers will be retained, and if so, whether individuals
will be re-contacted about new developments concerning their
health care.
If a child or adolescent is tested as part of a research project,
the child's assent should be sought. An adequate explanation
for a child's assent should describe the potential harms and
benefits of testing in a simple manner appropriate to the child's
age.
Table 5 illustrates ethical requirements of informed consent
applicable to testing in clinical practice and in research situations,
respectively.
| Table 5. Proposed
Ethical Guidelines concerning Autonomy and Informed Consent
Genetic testing in clinical practice
should be voluntary and should occur in the context of
a comprehensive genetic service and valid process of informed
consent, with an explanation of the following elements:
!
the purpose of the test,
!
the chance that it will give a correct prediction,
!
the implications of the test results for the individual
and family,
!
the tested person's options and alternatives,
!
the test's potential benefits and risks, including
social and psychological,
!
that social risks include discrimination by insurers
and employers (even though this may be illegal), and
!
that whatever decision individuals and families make,
their care will not be jeopardized.
B. Applicable to research
and quality control:
Elements of a valid informed
consent process include an explanation of:
!
the experimental nature and purpose of the study,
!
why the individual is invited to participate, and
that participation is voluntary,
!
the procedure,
!
the discomforts and risks (if any) of the test to
both the individual and the family,
!
the uncertainty of the results of the test for prediction
and accurate genetic counselling,
!
the possible benefits to others and to science,
!
the confidentiality of records identifying the tested
individual,
!
whom to contact for questions about research or in
the event of a research injury,
!
the right of the individual to withdraw at any time,
and
!
the right of the individual and family to unrestricted
health care, even if the individual withdraws.
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8. PRESYMPTOMATIC AND SUSCEPTIBILITY TESTING
Presymptomatic testing refers to identification of healthy
individuals who may have inherited a gene for a late-onset disease,
and if so will develop the disorder if they live long enough
(e.g., Huntington disease). Susceptibility testing identifies
healthy individuals who may have inherited a genetic predisposition
that puts them at increased risk of developing a multifactorial
disease, such as heart disease, Alzheimer disease or cancer,
but who, even so, may never develop the disease in question.
Presymptomatic testing in the absence of therapeutic options
should be available if the following conditions are met:
A. The information provided by testing will be
used to prevent harm to the person tested, or to spouse,
family, prospective children or others.
B. The person is fully informed about the limitations
of testing, including possibilities of uninformative
results, and inability to predict exact age of onset
or (sometimes) severity of symptoms.
C. The person (or the legally authorized representative)
is mentally capable of giving consent.
D. Testing is accompanied by a counselling programme
of appropriate length and intensity for the disorder.
In regard to requests for testing children, in the absence
of medical benefit through prevention or treatment, presymptomatic
or susceptibility tests for adult-onset disorders are usually
best postponed until adulthood, when the young adult can make
her/his own decision. In counselling, geneticists need to explain
to parents the potential benefits and potential harms of testing
children.
Proposed ethical guidelines for presymptomatic and susceptibility
testing are presented in Table 6.
Table
6. Proposed Ethical Guidelines for Presymptomatic and Susceptibility
Testing
!
Genetic susceptibility testing of persons with a family
history of heart disease, cancer or other common diseases
of possible genetic origin should be encouraged, provided
that information from the test can be used effectively
for prevention or treatment (beneficence).
!
All susceptibility testing should be voluntary, preceded
by adequate information and based on informed consent
(autonomy).
!
Presymptomatic testing should be available for adults
at risk who want it, even in the absence of treatment,
after proper counselling and informed consent (autonomy).
!
Testing of children or adolescents should be carried
out only if there are potential medical benefits to
the child or adolescent (autonomy, beneficence, non-maleficence).
!
Employers, insurers, schools, government agencies
or other institutional third parties should not be
given access to test results (non-maleficence).
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9. DISCLOSURE AND CONFIDENTIALITY
Disclosure and confidentiality issues are some of the most
frequent ethical problems appearing in medical genetics. Because
of the possibility of harm from disclosure to institutional
third parties, utmost care must be taken to protect confidentiality.
However, a genetic diagnosis in an individual may indicate genetic
risks in his/her relatives. In those circumstances, the genetic
service provider should encourage the individual to ask the
relatives to seek genetic counselling. If the individual refuses,
especially in cases where effective and affordable treatment
or preventive measures are available, the counsellor may ethically
make direct contact with the relatives, bearing in mind that
the information provided should concern only their own genetic
risks, not the genetic status nor the identity of the relative
who refused to inform them. Counsellors should also make sure
that adequate follow-up takes place.
Proposed guidelines on issues of disclosure and confidentiality
are listed in Table 7.
Table 7. Proposed
Ethical Guidelines concerning Disclosure and Confidentiality
!
Professionals should disclose to tested individuals
all test results relevant to their health or the health
of a fetus. Adequate information is a prerequisite
for free choice and is necessary to the open communication
and trust that should mark the relationship between
the provider and the person counselled.
!
Test results, including normal results, should be
communicated to the tested person without undue delay.
!
Test results not directly relevant to health, such
as non-paternity, or the sex of the fetus in the absence
of X-linked disorder, may be withheld if this appears
necessary to protect a vulnerable party or if prescribed
by national law.
!
The wish of individuals and families not to know genetic
information, including test results, should be respected,
except in testing of newborn babies or children for
treatable conditions.
!
Information that could cause grave psychological or
social harm may be temporarily withheld. Within the
general duty of disclosure, the counsellor may exercise
judgement about when a tested person is ready to receive
information.
!
If a couple intends to have children, individuals
should be encouraged to share genetic information
with their partners.
!
Where appropriate, as part of their general duty to
educate, counsellors should inform people that genetic
information may be useful to their relatives and may
invite individuals to ask the relatives to seek genetic
counselling.
!
The provision of genetic information to relatives
about the family so as to learn their own genetic
risks should be possible, especially when a serious
burden can be avoided.
!
Results of carrier tests, presymptomatic tests, susceptibility
tests and prenatal tests should be kept confidential
from employers, health insurers, schools and government
agencies. People should not be penalized or rewarded
for their genetic constitutions. Information about
a symptomatic condition may be disclosed as part of
general medical information, in accordance with laws
and practices in different countries.
!
Registries (if any) should be protected by the strictest
standards of confidentiality.
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10. PRENATAL DIAGNOSIS
Prenatal diagnosis of genetic disorders and fetal anomalies
has expanded significantly for hundreds of conditions through
DNA analysis of fetal cells, and the increased use of ultrasound
and maternal serum biochemical screening (amniocentesis). The
purpose of prenatal diagnosis is to rule out the presence in
the fetus of a particular medical condition for which the pregnancy
is at an increased risk. This information is provided to the
couple to assist in their decision-making process regarding
the available options, such as carrying the pregnancy to term,
preparing for a difficult delivery and for special newborn care,
or terminating the pregnancy. Genetic counselling is particularly
important prior to prenatal diagnosis and, after a result indicating
an affected fetus, to secure fully informed choices. Information
about the purposes, benefits and limitations of maternal serum
biochemical screening must be given when offering the test,
including the fact that any abnormal screening result will need
confirmatory testing by invasive prenatal diagnosis and may
potentially lead to a decision about abortion.(1)
Cultures, religions and national laws differ with regard to
abortion of an affected fetus after prenatal diagnosis. WHO
cannot resolve these differences, but can suggest general guidelines
for the provision of prenatal diagnosis, subject to the framework
of the law in each individual country. Proposed ethical guidelines
for the provision of prenatal diagnosis and of counselling about
it are given in Tables 8 and 9.
Table 8. Proposed
Ethical Guidelines for Prenatal Diagnosis
!
Equitable distribution of genetics services, including
prenatal diagnosis, is owed first to those with the
greatest medical need, regardless of ability to pay
or any other considerations (justice).
!
Prenatal diagnosis should be voluntary in nature.
The prospective parents should decide whether a genetic
disorder warrants prenatal diagnosis or termination
of a pregnancy with an affected fetus (autonomy).
!
If prenatal diagnosis is medically indicated, it should
be available regardless of a couple's stated views
on abortion. Prenatal diagnosis may, in some cases,
be used to prepare for the birth of a child with a
disorder (autonomy).
!
Prenatal diagnosis is carried out only to give parents
and physicians information about the health of the
fetus. The use of prenatal diagnosis for paternity
testing, except in cases of rape or incest, or for
gender selection, apart from sex-linked disorders,
is not acceptable (non-maleficence).
!
Prenatal diagnosis solely for relief of maternal anxiety,
in the absence of medical indications, should have
lower priority in the allocation of resources than
prenatal diagnosis with medical indications (justice).
!
Counselling should precede prenatal diagnosis (non-maleficence).
!
Physicians should disclose all clinically relevant
findings to the woman or couple, including the full
range of variability in the manifestations of the
condition under discussion (autonomy).
!
The woman's and/or the couple's choices in a pregnancy
with an affected fetus should be respected and protected,
within the framework of the family and of the laws,
culture and social structure of the country. The couple,
not the health professional, should make the choice
(autonomy).
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Pre-test counselling makes post-test counselling (for those
with an affected fetus) much less difficult because prospective
parents are better prepared. Counselling should include the
items in Table 9, as a minimum.
Table
9. Proposed Counselling Points prior to Prenatal Diagnosis
!
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.
!
Possibilities for treatment of the disorder(s) after
birth and availability of supportive care.
!
Description of the likelihood (risk) that the fetus
may have the disorder(s). Risks should be expressed
in several ways (as a percentage, as a proportion
and verbally).
!
The possibility of unfavourable test results or of
fortuitous or unexpected findings.
!
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 of the fetus or early treatment after birth.
!
The possibility of ambiguous laboratory or ultrasonography
results.
!
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.
!
Information that the test does not guarantee a healthy
baby, because there are many disorders that cannot
be identified before birth, or professionals may not
know that a family is at risk of a specific disorder
(in addition to the disorder that motivated the examination).
!
The medical risks to fetus and mother posed by the
testing procedure.
!
Non-medical risks, if any (e.g., to parental employment
or health care, where applicable).
!
Information that non-invasive screens used early in
pregnancy, such as maternal serum alpha fetoprotein
screening, may be the first step on the road to prenatal
diagnosis and a possible decision about abortion.
!
Costs of the test and sources of reimbursement for
the mother or couple, if applicable.
!
Names and addresses of genetic support groups or organizations
for persons with genetic disorders that people can
contact if they wish.
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(1) References in this document to abortion
as a choice available to individuals and couples following a
prenatal diagnosis assumes that any such abortion is not prohibited
by law. In this respect, WHO refers to the Official United Nations
Report of the International Conference on Population and Development
(Cairo, 5-13 September 1994) which states, in part, (para 8.25):
"In no case should abortion be promoted as a method of family
planning. ... Women who have unwanted pregnancies should have
ready access to reliable information and compassionate counselling.
Any measures or changes related to abortion within the health
system can only be determined at the national or local level
according to the national legislative process."
11. BANKED DNA
Stored DNA in tissue or blood samples may provide useful information
for examination of genetic disorders in families or for research.
Information from DNA specimens may be of importance for relatives
and not only for the person from whom DNA originates. Therefore,
access to stored DNA by family members needs to be considered.
Existing stored specimens or samples, such as those in university
or hospital departments or collections of blood spots, should
not be subject to new rules for consent or re-contact that may
be established in the future.
In developing policies about samples to be collected in the
future, it is helpful to keep the following issues in mind:
- protection of individuals from possible discrimination
by employers and insurers, etc.;
- possible benefits to the individuals from research findings;
- the possibility of multiple uses of the same sample in
different and unforeseen research projects;
- possible sharing of samples among collaborators, including
international collaborators and commercial entities;
- advantages and disadvantages for individuals and researchers
of removing all identifiers (including coded numbers) from
a sample.
A blanket informed consent that would allow use of a sample
for genetic research in general, including future as yet unspecified
projects, appears to be the most efficient and economical approach,
avoiding costly re-contact before each new research project.
The consent should specify that family members may request access
to a sample to learn their own genetic status but not that of
the donor. While spouses may not have such a right of access,
their concerns should be considered. All samples should be used
with appropriate regard for confidentiality. Proposed guidelines
for access to banked DNA are given in Table 10.
Table 10. Proposed
Ethical Guidelines for Access to Banked DNA
!
A blanket informed consent that would allow use of
a sample in future projects is the most efficient
approach.
!
Control of DNA may be familial, not only individual.
Blood relatives may have access to stored DNA for
purposes of learning their own genetic status, but
not for purposes of learning the donor's status.
!
Family members should have access regardless of whether
they contributed financially to the banking of the
DNA.
!
DNA should be stored as long as it could be of benefit
to living or future relatives or fetuses.
!
Attempts should be made to inform families, at regular
intervals, of new developments in testing and treatment.
Donors should inform DNA banks of current addresses
for follow-up.
!
After all relatives have died or all attempts to contact
survivors have failed, DNA may be destroyed.
!
Spouses should not have access to DNA banks without
the donor's consent, but may be informed that DNA
has been banked. If a couple is considering having
children, it is the moral obligation of the party
whose DNA has been banked to provide the spouse with
any relevant information.
!
Except for forensic purposes or instances when the
information is directly relevant to public safety,
there should be no access for institutions without
the donor's consent. Insurance companies, employers,
schools, government agencies and other institutional
third parties that may be able to coerce consent should
not be allowed access, even with the individual's
consent.
!
Qualified researchers should have access if identifying
characteristics are removed.
!
Potentially valuable specimens that could be useful
to concerned families in the future should be saved
and should be available.
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Biomedical research in human genetics can lead to the development
of diagnostic and pharmaceutical products. Patents may be necessary
to raise funding to develop such products commercially, but
gene sequences without proven utility should not be granted
patents. Patenting has the potential to impede international
collaboration, especially between developing and developed countries,
to the ultimate detriment of service delivery to those with
genetic disorders. Genetics differs from many areas of research
in that important new knowledge can come from a family, or an
ethnic group, with a particular genetic variant. If this leads
to the development of a diagnostic test or new therapies, equity
requires that the donors, or the community generally, should
receive some benefit.
12. ASSISTED REPRODUCTION AND MEDICAL GENETICS
Although not directly related to medical genetics, various
types of assisted reproduction are often discussed in connection
with genetic counselling. Couples who are at risk of having
a child with a genetic disorder may choose alternative options.
These may include egg or sperm or embryo donation, or surrogacy.
Countries have legitimate wide differences in their beliefs
about the acceptability of each of these practices. In addition,
these alternatives are often expensive in health resources.
Whichever reproductive alternatives are offered must be consistent
not only with the cultural traditions and beliefs of each country,
but also with overall respect for the autonomy of individuals
and families. In this context, reproductive cloning (the creation
of a fetus whose genome is entirely derived from another individual)
has been rejected by many international bodies, including WHO,
has aroused fears in many societies, and is not in accord with
currently accepted international ethical standards.
13. ACKNOWLEDGEMENTS
The participants at the meeting would like to express their
thanks to those who sent their comments on the distributed draft
document "Guidelines on Ethical Issues in Medical Genetics and
the Provision of Genetics Services" [2] which was used as background
information for the purpose of this meeting. An updated version
of the draft document, where all comments received have been
considered, will be published in 1998 as a "Review of Ethical
Issues in Medical Genetics and Genetic Services".
14. REFERENCES
2. Guidelines on Ethical Issues in Medical Genetics and
the Provision of Genetics Services. Unofficial WHO document,
WHO/HDP/GL/ETH/95.1.
3. Control of Hereditary Diseases. Report of a WHO Scientific
Group. Geneva, 1996, WHO Technical Report Series No. 865.
4. International Ethical Guidelines for Biomedical Research
Involving Human Subjects, CIOMS/WHO, Geneva, 1993.
5. Neil A. Holtzman, Michael S. Watson, eds. Promoting
Safe and Effective Genetic Testing in the United States.
Report of the Joint DOE-NIH ELSI Task Force on Genetic Testing.
Baltimore: Johns Hopkins University Press, 1998.
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