DoR-Oct2009

Handbook of WMA Policies
World Medical Association ½ S-2005-03-2009

WMA STATEMENT
ON
GENETICS AND MEDICINE
Adopted by the 56th
WMA General Assembly, Santiago, Chile, October 2005
and amended by the 60th
WMA General Assembly, New Delhi, India, October 2009
PREAMBLE
1. In recent years, the field of genetics has undergone rapid change and development. The
areas of gene therapy and genetic engineering and the development of new tech-nology
have presented possibilities inconceivable only decades ago.
2. The Human Genome Project opened new spheres of research. Its applications also
proved useful to clinical care, by allowing physicians to utilize knowledge of the
human genome in order to diagnose future disease as well as to individualize drug
therapy (pharmacogenomics).
3. Because of this, genetics has become an integral part of primary care medicine.
Whereas at one time, medical genetics was devoted to the study of relatively rare
genetic disorders, the Human Genome Project has established a genetic contribution to
a variety of common diseases. It is therefore incumbent upon all physicians to have a
working knowledge of the field.
4. Genetics is an area of medicine with enormous medical, social, ethical and legal
implications. The WMA has developed this statement in order to address some of these
concerns and provide guidance to physicians. These guidelines should be up-dated in
accordance with developments in the field of genetics.
MAJOR ISSUES:
Genetic testing
5. The identification of disease-related genes has led to an increase in the number of
available genetic tests that detect disease or an individual’s risk of disease. As the
number and types of such tests and the diseases they detect increases, there is concern
about the reliability and limitations of such tests, as well as the implications of testing
and disclosure. The ability of physicians to interpret test results and counsel their pa-
tients has also been challenged by the proliferation of knowledge.
6. Genetic testing may be undergone prior to marriage or childbearing to detect the pre-
sence of carrier genes that might affect the health of future offspring. Physicians should
actively inform those from populations with high incidence of certain genetic diseases
about the possibility of pre-marital and pre-pregnancy testing, and genetic counselling
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Genetics and Medicine

should be made available to those individuals or couples who are consi-dering such
testing.
7. Genetic counselling and testing during pregnancy should be offered as an option. In
cases where no medical intervention is possible following diagnosis, this should be
explained to the couple prior to their decision to test.
8. In recent years, with the advent of IVF, genetic testing has been extended to pre-
implantation genetic diagnosis of embryos (PGD). This can be a useful tool in cases
where a couple has a high chance of conceiving a child with genetic disease.
9. Since the purpose of medicine is to treat, in cases where no sickness or disability is
involved, genetic screening should not be employed as a means of producing children
with pre-determined characteristics. For example, genetic screening should not be used
to enable sex selection unless there is a gender-based illness involved. Similarly,
physicians should not countenance the use of such screening to promote non-health
related personal attributes.
10. Genetic testing should be done only with informed consent of the individual or his/her
legal guardian. Genetic testing for predisposition to disease should be performed only
on consenting adults, unless there is treatment available for the condition and the test
results would facilitate earlier instigation of this treatment.
11. Valid consent to genetic testing should include the following factors:
• The limitations of genetic testing, including the fact that the presence of a specific
gene may denote predisposition to disease rather than the disease itself and does
not definitively predict the likelihood of developing a certain disease, particularly
in multi-factorial disorders.
• The fact that a disease may manifest itself in one of several forms and in varying
degrees. Information about the nature and predictability of information received
from the tests.
• The benefits of testing including the relief of uncertainty and the ability to make
informed choices, including the possible need to increase or reduce regular screen-
ings and checkups and to implement risk reduction measures.
• The implications of a positive result and the prevention, screening and/or treatment
possibilities.
• The possible implications for the family members of the patient involved.
12. In the case of a positive test result that may have implications for third parties such as
close relatives, the individual tested should be encouraged to discuss the results of the
test with such third parties. In cases where not disclosing the results involves a direct
and imminent threat to the life or health of an individual, the physician may reveal the
results to such third parties, but should usually discuss this with the patient first. If the
physician has access to an ethics committee, it is preferable to consult such a com-
mittee prior to revealing results to third parties.
Handbook of WMA Policies
World Medical Association ½ S-2005-03-2009

Genetic counselling
13. Genetic counselling is generally offered prior to marriage or conception, in order to
predict the likelihood of conceiving an affected child, during pregnancy, in order to
determine the condition of the fetus, or to an adult, in order to determine susceptibility
to a certain disease.
14. Individuals at higher risk for conceiving a child with a specific disease should be
offered genetic counselling prior to conception or during pregnancy. In addition,
adults at higher risk for various diseases such as cancer, mental illness or neuro-
degenerative diseases in which the risk can be tested for, should be made aware of the
availability of genetic counselling.
15. Because of the scientific complexity involved in genetic testing as well as the prac-
tical and emotional implications of the results, the WMA sees great importance in
educating and training medical students and physicians in genetic counselling, parti-
cularly counselling related to pre-symptomatic diagnosis of disease. Independent ge-
netic counsellors also have an important role to play. The WMA acknowledges that
there can be very complex situations requiring the involvement of medical genetics
specialists.
16. In all cases where genetic counselling is offered, it should be non-directive and protect
the individual’s right not to be tested.
17. In cases of counselling prior to or during pregnancy, the prospective parents should be
given information to provide the basis for an informed decision regarding child-
bearing, but should not be influenced by the physicians’ personal views in this matter
and physicians should be careful not to substitute their own moral judgment for that of
the prospective parents. In cases where a physician is morally opposed to contracep-
tion or abortion, he/she may choose not to provide these services but should alert pro-
spective parents that a potential genetic problem exists and make note of the option of
contraception or abortion as well as treatment alternatives, relevant genetic tests, and
the availability of genetic counselling.
Confidentiality of results
18. Like all medical records, the results of genetic testing should be kept strictly
confidential, and should not be revealed to outside parties without the consent of the
individual tested. Third parties to whom results may in certain circumstances be
released are identified in paragraph 12.
19. Physicians should support the passage of laws guaranteeing that no individual shall be
discriminated against on the basis of genetic makeup in the fields of human rights,
employment and insurance.
Gene therapy and genetic research
20. Gene therapy represents a combination of techniques used to correct defective genes
that cause disease, especially in the fields of oncology, hematology and immune dis-
orders. Gene therapy is not yet an active current therapy but is still in a stage of clini-
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Genetics and Medicine

cal investigation. However, with the continued development of this field, it should
proceed according to the following guidelines:
• Gene therapy performed in a research context should conform to the requirements
of the Declaration of Helsinki while therapy performed in a treatment context
should conform to standards of medical practice and professional responsibility.
• Informed consent should always be obtained from the patient undergoing the
therapy. This informed consent should include disclosure of the risks of gene
therapy, including the fact that the patient may have to undergo multiple rounds of
gene therapy, the risk of an immune response, and the potential problems arising
from the use of viral vectors.
• Gene therapy should only be undertaken after a careful analysis of the risks and
benefits involved and an evaluation of the perceived effectiveness of the therapy,
as compared to the risks, side effects, availability and effectiveness of other treat-
ments.
21. It is currently possible to undertake screening of an embryo in order to provide stem
cell or other therapies for an existing sibling with a genetic disorder. This may be
considered acceptable medical practice where no evidence exists that the embryo is
being created exclusively for this purpose.
22. Genetic discoveries should be shared as much as possible between countries so as to
benefit humankind and reduce duplication of research and the risk inherent in research
in this area.
23. The mapping of human genomes must be anonymous but the information acquired will
apply to every human being. The genetic information should be general property.
Therefore, no patents should be given for the human genome or parts of it.
24. In the case of genetic research performed on large, defined population groups, efforts
should be made to avoid potential stigmatization.
Cloning
25. Recent developments in science have led to the cloning of a mammal and raise the
possibility of such cloning techniques being used in humans.
26. Cloning includes both therapeutic cloning, namely the cloning of individual stem cells
in order to produce a healthy copy of a diseased tissue or organ for transplant, and re-
productive cloning, namely the cloning of an existing mammal to produce a duplicate
of such mammal. The WMA currently opposes reproductive cloning, and in many
countries it is considered to pose more of an ethical problem than therapeutic cloning.
27. Physicians should act in accordance with the codes of medical ethics in their countries
regarding the use of cloning and be mindful of the law governing this activity