Release of the Fourth Report by the Bioethics Advisory Committee – Genetic Testing and Genetic Research

This Report of the Bioethics Advisory Committee (BAC) sets out ethical considerations for the conduct of genetic testing and human genetic research.

The recommendations in the Report build on the existing ethical guidelines of the National Medical Ethics Committee of the Ministry of Health and apply to genetic testing whether conducted in a clinical or research setting. However, the recommendations on consent and counselling do not apply to standard clinical tests for the purposes of diagnosis or treatment, unless the tests involve direct analysis of human DNA, RNA, genes and/or chromosomes.

Ethical considerations provided by the BAC include:

• Genetic testing should be voluntary and conducted only after informed consent has been obtained;

• Careful and responsible use of genetic testing on vulnerable persons such as children and adolescents, the mentally impaired and persons in dependent relationships; and

• Safeguarding the privacy of tested individuals and ensuring the confidentiality of genetic information, unless the life of a third party is endangered.

The BAC recommends that the non-consensual or deceitful taking of human tissues for the purpose of genetic testing should be prohibited.

Specific ethical considerations have been set out by the BAC in relation to five types of genetic testing. The BAC recommends against the clinical practice of germline genetic modification at this time.

In view of the religious and ethical concerns with preimplantation genetic testing, the BAC also recommends that a provision be made so that no one shall be under any duty to be involved in such testing on the basis that he or she has a conscientious objection.

This Report is the culmination of an extensive research, which began in October 2003, and a public consultation process. To facilitate discussion and the gathering of feedback from the general public, the BAC held dialogue sessions with religious representatives and healthcare professionals, and further organised 14 focus group discussions (from 14 May to 9 July 2005). This Report follows upon earlier Reports of the BAC on Human Stem Cell Research and Cloning (June 2002), Human Tissue Research (November 2002) and Research Involving Human Subjects: Guidelines for IRBs (November 2004).

Singapore’s Bioethics Advisory Committee (BAC) announces the publication of its recommendations for genetic testing and research. In its report entitled “Genetic Testing and Genetic Research”, the BAC sets out considerations for the ethical use of genetic testing in the detection of specific heritable genetic conditions and susceptibilities, as well as the genetic information thereby derived. In addition, the BAC also provides ethical guidance on the conduct of human genetic research in general.

Professor Lim Pin, Chairman of the BAC, says: “Scientific advances in human genetics have greatly increased our understanding of genes and their impact on health and diseases. In recent years, a wide range of genetic tests has become available clinically and there is active research into developing novel tests for various diseases in many countries. However, the predictive nature of genetic information derived from genetic testing is sensitive not only for its impact on the tested individual, but also for those who are genetically related to this person. It is therefore important for testing to be conducted responsibly and ethically.”

The recommendations of the BAC relate to the ethical conduct of clinical genetic testing, as well as genetic testing for research. In the ethical conduct of clinical genetic testing, the BAC further considers issues in connection with the quality of clinical genetic tests and the interpretation of test results. These recommendations build on some of the ethical guidelines that have been issued by the National Medical Ethics Committee (NMEC) in its Ethical Guidelines for Gene Technology published in February 2001. The BAC has placed particular emphasis on the importance of sound and effective counselling in the conduct of genetic testing in a clinical context. However, the BAC has made clear that its recommendations do not supersede established medical guidelines concerning standard clinical tests conducted for the purposes of diagnosis or treatment. For such tests, the BAC’s recommendations relating to consent and counselling do not apply, unless analysis of human DNA, RNA, genes and/or chromosomes is involved.

In recognition of the predictive power of genetic information that is derived from genetic testing, the ethical considerations noted by the BAC include:

• Genetic testing should be voluntary and conducted only after informed consent has been obtained;

• Careful and responsible use of genetic testing on vulnerable persons such as children and adolescents, the mentally impaired and persons in dependent relationships; and

• Safeguarding the privacy of tested individuals and ensuring the confidentiality of genetic information, unless the life of a third party is endangered.

It is possible to conduct genetic testing on tissue samples (such as a piece of hair) obtained through deception or taken without the consent of an individual. The resulting information could be used in ways that are not in the interests of the individual. Associate Professor Terry Kaan, Chairman of the BAC’s Human Genetics Subcommittee, which led the work on this Report, says that: “One emerging area of concern is the increasing availability of genetic testing kits and services across borders, and especially over the internet. Many issues are raised by this new kind of market. For example, there is now concern that the ready availability of such services over the internet may be abused for the purposes of unwanted intrusion into someone's privacy by obtaining genetic information without that person's consent. Theoretically, for some tests, all you may need nowadays is a mouth swab, or a discarded toothbrush. So we have recommended that non-consensual or deceitful taking of human tissues for the purposes of genetic testing should be prohibited.” The BAC further recommends that genetic testing should generally be conducted by a qualified healthcare professional, and the availability of tests that provide predictive health information directly to the public should be limited.

Specific ethical considerations are set out in the Report for the responsible conduct of carrier testing, preimplantation genetic testing, prenatal genetic diagnosis, predictive testing and genetic screening. Generally, laboratories conducting these and other clinical genetic testing should be accredited. Test results should then be interpreted by an appropriately qualified or sufficiently experienced healthcare professional. As far as is practicable, genetic counselling should immediately follow, particularly if the test result is not favourable.

Owing to the religious and ethical concerns with preimplantation genetic testing, the BAC recommends that such testing should only be conducted pursuant to licensing and monitoring by a relevant authority and should further be limited to serious genetic conditions. In addition, the BAC proposes for a provision to be made so that no one will be under any duty to be involved in preimplantation genetic testing if he or she has a conscientious objection.

In recent years, preimplantation genetic diagnosis has been used in combination with tissue typing. Such a technique, known as preimplantation tissue typing, not only allows couples to have a healthy child, but also enables the selection of an immunogenetically compatible stem cell donor to save a sick sibling. The BAC considers the use of preimplantation tissue typing to be permissible provided that it is subject to licensing control by a relevant authority and evaluated on a case-by-case basis.

In view of the possible use of preimplantation genetic testing and prenatal genetic diagnosis for the selection of traits or gender for non-medical reasons, the BAC recommends that such use be disallowed.

Recent advancement in gene technology allows an individual’s genetic makeup to be altered in a manner that is permanent and can be transmitted to his or her offspring. Such technology – known as germline genetic modification – is still experimental and presents serious ethical concerns. For these reasons, the BAC recommends against the clinical practice of germline genetic modification, although progress in this technology will be monitored and its clinical applicability reassessed at an appropriate time in the future.

The Report is the culmination of extensive research into the policies and guidelines of various international and national ethics, governmental and professional bodies, which commenced approximately two years ago. On 5 April 2005, a consultation paper was distributed to 107 healthcare and governmental institutions (including the NMEC) and professional, religious and patient support organisations for comments. A total of 31 written responses were received. In addition, the BAC held dialogue sessions with religious representatives and healthcare professionals, and further organised 14 focus group discussions (from 14 May to 9 July 2005) to facilitate discussion and gathering of feedback from the general public. The written responses and reports on the dialogue sessions and focus group discussions have been published as annexes to the Report. All views provided to the BAC had been carefully considered in formulating the recommendations, including feedback from the BAC’s International Panel of Experts and the International Advisory Council of the Biomedical Sciences Initiative.

These recommendations have been presented to and accepted by the Life Sciences Steering Committee (previously, Life Sciences Ministerial Committee). A copy of the Report is available at www.bioethics-singapore.gov.sg.

LIST OF RECOMMENDATIONS

Genetic Information

Genetic information derived from clinical genetic testing should be regarded as medical information and the usual standards in medical ethics apply in its derivation, management and use.

General Ethical Considerations

Genetic testing should be conducted in a manner that is respectful of the welfare, safety, religious and cultural perspectives and traditions of individuals.

Genetic testing should be voluntary. The individual should be given sufficient time and information to ensure informed consent before testing. Consent should also be obtained for the future use of tissue specimens.

The non-consensual or deceitful taking of human tissues for the purpose of genetic testing should be prohibited.

Genetic Testing of Vulnerable Persons

We do not recommend the broad use of genetic testing on children and adolescents. Confirmatory testing and predictive testing for genetic conditions where preventive intervention or treatment is available and beneficial in childhood are recommended. Carrier testing should generally be deferred until the child is mature or when required to make reproductive decisions, but where compelling interests of other family members or public health interests exist, the physician should be able to decide, together with the parents, whether or not to determine the carrier status of the child. Predictive testing where there is no preventive intervention or treatment, or where intervention or treatment is only available and beneficial during adulthood, should be discouraged.

Clinical genetic testing involving vulnerable persons should only be conducted if it is medically beneficial to the vulnerable persons and after informed consent has been obtained. In the case of persons in dependent relationships, extra care should be taken to ensure that such persons clearly understand that refusal to consent will not prejudice any current or prospective benefit.

Confidentiality and Privacy

Results from clinical genetic testing should only be used to advantage or empower an individual or family and for the management or prevention of disease. Such information should not be disclosed to third parties without the informed consent of the individual unless in exceptional circumstances when the information is required to avert serious harm.

An individual should be informed of the result of a clinical genetic test without undue delay unless he or she has clearly indicated a wish not to know.

Preimplantation Genetic Testing

Preimplantation genetic screening and diagnosis are permissible, subject to licensing and monitoring by a relevant authority and should be limited to preventing serious genetic conditions. Provision should also be made so that no one shall be under any duty to be involved in preimplantation genetic testing to which he or she has a conscientious objection.

The use of preimplantation genetic testing for the selection of desired traits or gender for non-medical reasons should not be allowed.

Preimplantation tissue typing, whether as the sole objective or in conjunction with preimplantation genetic diagnosis to avoid a serious genetic disorder, is permissible but should be licensed and evaluated on a case-by-case basis.

Germline Genetic Modification

The clinical practice of germline genetic modification should not be allowed at this time.

Prenatal Genetic Diagnosis

Prenatal genetic diagnosis should be limited to serious medical disorders. The use of prenatal genetic diagnosis for the selection of desired traits or gender for non-medical reasons should not be allowed.

Predictive Testing

Presymptomatic testing should be available for adults at risk who request it, even in the absence of treatment, after proper counselling and informed consent.

Susceptibility testing should not be applied clinically unless there is significant empirical evidence of validity and utility.

Genetic Screening

In genetic screening programmes, a confirmatory diagnostic test should be performed as soon as possible after a positive screening test, so as to minimise unnecessary anxiety or to enable measures for the prevention or treatment of the condition to be instituted without delay.

Standards of Genetic Test Providers

All laboratories conducting clinical genetic tests should be accredited by a body designated by the relevant authority, based on standards it considers appropriate.

Results Interpretation

Interpretation of clinical genetic test results should only be performed by healthcare professionals who are appropriately qualified or have sufficient experience. As far as is practicable, genetic counselling should immediately follow the disclosure of the test result, particularly if the test result is not favourable.

Genetic Counselling

Genetic counselling should be offered to all individuals before and after they undergo clinical genetic testing.

Genetic counselling should generally be conducted in a non-directive manner and should provide sufficient information and appropriate support to the individual and his or her family members.

Professional Diversification and Development

The relevant authority should provide professional training and accreditation in medical genetics and counselling to healthcare professionals.

Direct Supply of Genetic Tests to the Public

Genetic testing should generally be conducted through a qualified healthcare professional. Tests that provide predictive health information should not be offered directly to the public. The advertising of direct genetic tests to the public should be strongly discouraged. The relevant authority should develop an oversight framework for the supply of genetic tests, services and information direct to the public.

For media enquiries, please contact the BAC Secretariat:

Mr Calvin Ho
DID: (65) 6826 6382
calvin_ho@bioethics-singapore.gov.sg

Ms Jessy Chen
DID: (65) 6826 6264
Jessy_Chen@bioethics-singapore.gov.sg