Population genetic screening programmes: principles, techniques, practices, and policies

Godard, Béatrice; ten Kate, Leo; Evers-Kiebooms, Gerry; Aymé, Ségolène

doi:10.1038/sj.ejhg.5201113

Review
Published: 13 January 2004

Population genetic screening programmes: principles, techniques, practices, and policies

Béatrice Godard¹^nAff4,
Leo ten Kate²,
Gerry Evers-Kiebooms³ &
…
Ségolène Aymé¹

European Journal of Human Genetics volume 11, pages S49–S87 (2003)Cite this article

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Abstract

This paper examines the professional and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe. This paper focuses on the issues surrounding potential screening programmes, which require further discussion before their introduction. It aims to increase, among the health-care professions and health policy-makers, awareness of the potential screening programmes as an issue of increasing concern to public health.

The methods comprised primarily the review of the existing professional guidelines, regulatory frameworks and other documents related to population genetic screening programmes in Europe. Then, the questions that need debate, in regard to different types of genetic screening before and after birth, were examined. Screening for conditions such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolemia, fragile X syndrome, hemochromatosis, and cancer susceptibility was discussed. Special issues related to genetic screening were also examined, such as informed consent, family aspects, commercialization, the players on the scene and monitoring genetic screening programmes. Afterwards, these questions were debated by 51 experts from 15 European countries during an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Amsterdam, The Netherlands, 19–20, November, 1999. Arguments for and against starting screening programmes have been put forward. It has been questioned whether genetic screening differs from other types of screening and testing in terms of ethical issues. The general impression on the future of genetic screening is that one wants to ‘proceed with caution’, with more active impetus from the side of patients' organizations and more reluctance from the policy-makers. The latter try to obviate the potential problems about the abortion and eugenics issues that might be perceived as a greater problem than it is in reality. However, it seems important to maintain a balance between a ‘professional duty of care’ and ‘personal autonomy’.

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Author information

Béatrice Godard
Present address: Faculty of Law and Department of Social and Preventive Medicine, University of Montreal, Montreal, Canada

Authors and Affiliations

INSERM SC11, Paris, France
Béatrice Godard & Ségolène Aymé
Department of Clinical Genetics and Human Genetics, Amsterdam, The Netherlands
Leo ten Kate
Department of Human Genetics, Psychosocial Genetics Unit, University of Leuven, Leuven, Belgium
Gerry Evers-Kiebooms

Authors

Béatrice Godard
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Leo ten Kate
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Gerry Evers-Kiebooms
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Ségolène Aymé
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Corresponding author

Correspondence to Ségolène Aymé.

Appendices

Appendix A:

International and national regulatory frameworks

European Countries

Austria

The Gene Technology Act (Law BGB 510/1994), 1994: This law regulates the use of genetic testing and gene therapy in human beings. Part IV of the legislation addresses the issue of genetic screening; the legislation imposes conditions requiring the fully informed consent of the individual to be screened (Section 65). The consent requirements also apply to the use of prenatal genetic screening techniques. Section 64 stipulates that ‘DNA-based screening may be carried out but imposes a number of conditions so that screening may only be carried out where it is at the request of a doctor specialising in medical genetics or a doctor for the respective speciality and either for verification of a predisposition to a late onset disorder or for verification of carrier status or the diagnosis of an existing disease or late onset disorder. DNA-based screening may also be carried out as part of preparation for gene therapy and the monitoring of the effectiveness of any gene therapy treatment’.¹¹²

According to the Act, premises, where genetic tests for the diagnosis of a predisposition or for the identification of a carrier status of inherited diseases are performed, have to be approved by the Ministry of Health and Consumer Protection. For the authorization of premises for the performance of predictive genetic testing on humans, certain requirements have to be fulfilled. These requirements pertain to the structural and apparative condition of the premises, an adequate qualification and experience of the performing staff and sufficient measures for quality assurance, in order to ensure that genetic tests are carried out according to the state of the art and that the data gained from these tests are strictly protected. Genetic counselling has to be carried out before and after genetic testing, and has to include psychological or social aspects. If all these requirements are met, the premises will be approved by the competent authority on the basis of the opinion given by the relevant scientific committee of the gene technology commission.¹⁶³

Belgium

Although there is little specific legislation relating to genetics a Higher Council on Human Genetics was established in 1973. In 1987, a Crown Order established standards which must be met by any centre operating in the field of human genetics. In 1992, the Belgian parliament enacted the Law on Insurance Contracts that precluded insurance companies from using genetic testing in the determination of life or health insurance contract. The same law prohibits a candidate to communicate genetic information to the insurer, thus indirectly prohibiting the latter to request such information.

Denmark

Danish Council of Ethics, Protection of Sensitive Personal Information – A Report, Copenhagen, 1992
Danish Council of Ethics, Ethics and Mapping of the Human Genome, Copenhagen, 1993: See the section on ‘The Danish Council of Ethics, ethics and mapping of the human genome’.
Danish Council of Ethics, Genetic Screening – A Report, Copenhagen, 1993: This report recommended that all genetic screening projects should be ethically evaluated by the Central Scientific Committee (which approve all medical research involving human beings) as well as by the Council of Ethics itself. The report also stated principles for the information of persons to be tested, and for the evaluation of the consequences of genetic screening.
Danish Centre for Human Rights, Genetic Test, Screening and Use of Genetic Data by Public Authorities in Criminal Justice, Social Security and Alien and Foreigners Acts, Copenhagen, 1993
Danish National Board of Health, Guidelines and recommendations for indications for prenatal diagnosis, 1994
Danish Council of Ethics, Priority-setting in the Health Services, 1997: Genetic screening is mainly regulated through the legal regulations that in general applies to the Danish health care system.

Finland

In 1997, the Ministry of Social Affairs and Health set up a Working Party to evaluate genetic screening programmes and the ethical and social issues involved with it. The Working Party gave its report in 1998: the main conclusion was that genetic screening programmes should always be approved by an official health care authority; the details of this should be legislated. There should be a national board of experts who should follow the research and practices concerning genetic screening.

There is no specific regulations of genetic testing in laboratories. The Ministry of Social Affairs and Health supervises genetic testing as part of supervision and quality control of both the public sector and the private laboratories. Recommendations on quality control have been published and updated several times by the Society for Medical Genetics.¹⁶⁴

Primary Health Care Act and Decree, 1971: This Act regulates the duties of municipalities regarding screenings. For the patients all screenings are voluntary.
Act on the Status and Rights of patients, 785/1992: The act regulates, that is, patient's right to be informed about his/her state of health, patient's right to self-determination, drafting and keeping patient documents and confidentiality of information in patient documents.
Gene Technology Act, 1995: This act aims to promote the safe use and development of gene technology.
The Ministry of Social Affairs and Health, Report of a Working Party on Genetic Screening, 1998.

France

Laws No. 94-653 of 29 July 1994 on respect for the human body: This law modifies the Civil Code by introducing notably the notions of the fundamental right to respect for one's body, therapeutic necessity as the only acceptable reason for violating bodily integrity and this only if the individual has consented. A genetic test can only be carried out for medical or scientific purposes, and only after consent has been obtained from the individual. Strict penalties are provided if case abuse occurs.
Laws No. 94-654 of 29 July 1994 on the donation and use of elements and products of the human body, medically assisted procreation and prenatal diagnosis: Prenatal diagnosis is defined as including medical techniques aimed at detecting in utero a particularly severe disorder but not necessarily incurable. It must be preceded by a medical genetic counselling consultation. The cytogenetic and biological analyses must be carried out in authorized establishments. Preimplantation diagnosis is only allowed in certain circumstances: a physician working in a pluridisciplinary prenatal diagnosis center must attest that a couple runs a high risk of having a child suffering from a particularly severe genetic disease that is incurable at the time of diagnosis; the genetic anomaly must have been identified in one of the parents; both members of the couple must give written consent to the test. The purpose of the test is limited to finding the affection, and looking for ways to prevent and treat it.
National Ethical Consultative Committee for the Life and Health Sciences in France, Genetics and Medicine: From Prediction to Prevention, Paris, 1995: Genetic screening is the subject of this report, which in the absence of a specific law, declares the ethical principles that must be respected, with respect to all the activities involved in genetic screening. Its recommendations cover the following topics and ethical principles: respect of the autonomy of the subject, respect of medical confidentiality; respect of privacy in computerizing personal data; the use of biological samples; the prohibition of using results of genetic tests for purposes other than medical or scientific; procedures of accreditation of the materials involved in genetic testing; prior evaluation of the impact of the tests; information and formation of all medical personnel in genetics; the need to guarantee correct public information; prohibition of all uses that would contribute to stigmatization or unfair discrimination in the social and economic spheres.
National Advisory Committee on Bioethics and National College of Gynaecologists and Obstetricians Guidelines, 1997: The topics covered by these guidelines are prenatal diagnosis, preimplantation diagnosis and predictive testing for late-onset diseases.
National Consultative Ethics Committee, Review of the Law No 94-653 of 29 July 1994: propositions regarding preimplantation diagnosis and prenatal diagnosis, 1998
Parliamentary Office for Evaluating Scientific and Technological Choices, Report on the application of the law of 29 July 1994 concerning the donation and use of elements of the human body, medically assisted procreation and prenatal diagnosis, 1999: This report will serve as the basis for the parliamentary discussion scheduled for the second semester of 2000.

Germany

The various States of the Republic of Germany have State Boards of Physicians who have to ratify the guidelines of the Federal Medical Association in order to put them in action. The States have no regulatory legislation on screening.

The German Bundestag, Chancen und Risken der Gentechnologie Enquete-Commission, 1987: Prenatal diagnosis and newborn screening programmes were accepted. The document recommended the creation of a number of new offences in the German Criminal Code including the creation of a new offence of manipulating the germ line of a human being, and recommended a new criminal offence where an employer discriminates against an employee on the basis of the results of his genetic test. The report also contained detailed recommendations on the consent and counselling requirements which must be fulfilled before any genetic screening can be carried out. In most instances, the report did not recommend that legislation be enacted but rather that these matters be supervised by authoritative professional bodies.¹¹²
The Embryo Protection Law of 1990: This law regulates medical actions around in vitro reproduction. It forbids by penalty to manipulate the embryos, to start more than three embryos, they are for implantation only. IVF is restricted to cases of infertility.
Bundesministerium für Forschung und Technologie, Die Erforschung des menschlichen Genoms. Ethische und soziale Aspekte, 1990: The Federal Ministry of Research and Technology established a working group in order to evaluate the Ethical and Social Aspects of the Human Genome Analysis. Population screening and its problems was evaluated, as well as the screening with versus without medical indication and the necessity of informed consent vs informed refusal.¹⁶⁵
Berufsverband Medizinische Genetik, Stellungnahme zu einem möblichen Heterozygoten – Screening bei Cystischer fibrose, Medizinische Genetik, 1990: The German Medical Genetics Association published a Statement about Screening of Heterozygotes pointing to the danger of discrimination of carriers within an uneducated society.¹⁶⁵
The German Society of Human Genetics,¹¹⁵ Statement on heterozygote screening, 1991: The German Society states that for population screening, the public must be fully and competently educated about the project and that there be guarantees that participation of the examinees is voluntary, that the examinees are able to comprehend the significance of their decision, that the individuals responsible for counselling and examination are qualified to do so, and that possible risks be evaluated beforehand. Therefore, the German Society rejects this type of population screening at present since the basic preconditions are not met. This applies to education of the public, the guarantee that the required counselling is qualified, and the carrying out of scientific projects on which future decisions can be based.
Bundesärztekammer, Memorandum, Genetisches Screening, Deutsches Ärzteblatt 89, 25126, 1992: The Scientific Council of the German Federal Board of Physicians Medical Association Memorandum dealt with population carrier screening. This influential Memorandum pointed to the missing goal of population screening of genetic defects for everybody when testing for average risks.¹⁶⁵
The German Society of Human Genetics, Statement on genetic diagnosis in childhood and adolescence, 1995
The German Society of Human Genetics, Guidelines for molecular genetic diagnosis, 1996
The German Society of Human Genetics, Guidelines for genetic counselling, 1996
The German Society of Human Genetics, Position Paper, 1996: This paper defines standards for the application of genetic tests to nearly all fields of practical genetics: heterozygosity testing and screening, genetic testing in children, prenatal diagnosis, predictive testing.
The Professional Association of Medical Genetics, Principles of genetic counselling, 1996
Wissenschaftlicher Beirat der Bundesârztekammer, Richtlinien zur pränatalen Diagnostik von Krankheiten und Krankheitsdispositionen, Deutsches Arzteblatt 95, C-2284-3242, 1998: These guidelines for prenatal diagnosis of disorders and dispositions for diseases describes the indications for any invasive interventions, goals and conditions like counselling before and after the test. Maternal serum screening has been emphasized as an appropriate and valid methodology.
Wissenschaftlicher Beirat der Bundesârztekammer, Richtlinien zur Diagnostik der genetischen Dispositionen für Krebserkrankungen, Deutsches Arzteblatt 95, B-1120-1127, 1998: These guidelines for diagnosing genetic dispositions for cancer state that diagnoses for patients suffering from cancer are differentiated from screening for dispositions in healthy persons who have some indications for this test and who need to be counselled before and after the test. Otherwise, any patient in ambulances or clinics has a right to get diagnosed and to learn about the nature of his disease.

In Germany, there is a special committee that, all 1–3 years, publishes consensus resolutions and guidelines as to maternal serum screening: Northelmer Konsensus-Tagungen.

Rauskolb R, Blutuntersuchungen bei Schwangeren zur pränatalen Erkennung von Chromosomenanomallen und Neuralrohrdefekten (sog. Triple-Test), Der Frauenarzt 1993; 34 : 254–258.
Braulke I, Rauskolb R, Blutuntersuchungen bei Schwangeren zur pränatalen Diagnostik von Chromosomenanomallen und Neuralrohrdefekten (sog. Triple-Test), Bericht ber die 2, Konsenstagung, Der Frauenarzt 1995; 36 : 98–99.
Braulke I, Rauskolb R, Blutuntersuchungen bei Schwangeren zur pränatalen Risikopräzislerung für Chromosomenanomallen und Neuralrohrdefekten (sog. Triple-Test), Med Genet 1996; 4 : 348–352.
Pauer HU, Rauskolb R, Blutuntersuchungen bei Schwangeren zur pränatalen Risikopräzislerung für Chromosomenanomallen und Neuralrohrdefekten (sog. Triple-Test), Der Frauenarzt, 1999; 40 : 518–522.
The fifth Consensus Conference, First trimester screening in Germany, 1999
Wissenschaftlicher Beirat der Bundesârztekammer, Richtlinien zur Durchfuehrung der assistierten Reproduktion, Deutsches Arzteblatt 95, C-2230-2235, 1998: In this professional guidelines for IVF, no other indications than those authorized by the Embryo Protection Law are accepted. Preimplantation diagnosis is not allowed.

Attempts are being made by some institutions today to review and discuss the technical possibilities of PGD, the question of its necessity, and the ethical, social and legal problems, in particular the necessary changes of the Embryo Protection Law and the professional guidelines for IVF. In addition, the reformed Abortion Law of 1995 still bans abortion but allows exceptions under certain conditions. The jurisdiction in the German constitution protects the diseased or disabled. Therefore a future disorder or disability of the foetus can not be used as sole reason for abortion. These principles cause difficulties in discussions pro PGD.

Greece

In 1977, Greek legislation changed the abortion law to allow termination of the pregnancy up to the 24th week for medical reasons. There is no legislation concerning practice in genetics. Currently, a five-member Bioethics Committee, reporting directly to the Prime Minister is preparing guidelines regarding the ethical and social issues of genetic testing. Since 1981, the Hellenic Association of Medical Genetics has been trying to get approval from the government concerning a national genetics programme that would include all the existing units and establish new units of genetics all over the country under specific structure and organization. Quality control systems are not existent and the Hellenic Association of Medical Genetics has not been involved up until today in the organisation of such a system.¹⁶⁶

Iceland

Iceland has no law that specifically deals with human genetics. There is a law (no. 18/1996) on genetically engineered organisms. The law on patients' rights (no. 74/1997) has some relevance here, as do laws on health-care service (97/1990), on personal privacy and data protection (121/1989), and some other laws (eg 53/1988, 37/1993, 50/1996).

Act no. 121/1989 on Personal Privacy and Data Protection, Ministry of Health, 1989: The implementation of the Data Protection Act is monitored by the Data Protection commission, a special independent official agency, appointed by the Minister of Justice for a period of 4 years. The commission has an important role both as a standard setting and a monitoring body.
Act no. 97/1990 on a Healthcare Services, Ministry of Health, 1990.
Act no. 74/1997 on the Rights of Patients, Ministry of Health, 1997: This Act includes fundamental rights of patients including rules on consent, confidentiality and handling of information in clinical records.
Act no. 139/1998 on a Health Sector Database, Ministry of Health, 1998: This Act is in compliance with the Act on the Rights of Patients. By reference to article 29 in the Act on the Rights of Patients, the Minister of Health and Social Security has issued a regulation on scientific research in the health sector (Reg. No. 552/1999) where a special Scientific Ethics Committee is founded. The Committee is given a specific role in the Act on HSD.

Ireland

There are no specific regulations or laws in place regarding genetic testing. Similarly, no specific schemes are in place for the licensing or accreditation of laboratories involved in genetic testing.

Italy

Legge No 104/5 febbraio 1992 (Gazzetta Ufficiale), Legge-quadro per l'assistenza, l'integrazione sociale e i diritti delle persone handicappate
The Italian Committee on Bioethics, Prenatal Diagnosis, 17 July 1992
Legge No 548/23 dicembre 1993 (Gazzetta Ufficiale), Disposizioni per la prevenzione e la cura della fibrosi cistica
The Italian Committee on Bioethics, Identity and Rights of the Embryo, 22 June 1996
The Italian Committee on Bioethics, Human Genome Project, 18 March 1994 and 21 February 1997
National Guidelines for Genetic Testing, 1998: In May 1998, the Italian Government has approved the National Guidelines for Genetic Testing prepared by a Task Force. The general objectives are: (1) ensuring the safety and effectiveness of both existing and newly introduced genetic tests; (2) defining the criteria for quality assurance of laboratories performing genetic tests; (3) ensuring both adequate counselling and the free decision of individuals and families; this will include a particular attention to problems concerning ethics and privacy. Some topics deserving a specific concern have been identified, namely: genetic testing for prenatal diagnosis, genetic testing for susceptibility to cancer, and genetic testing for rare diseases.¹⁶⁷
Decreti presidenziali, 9 luglio 1999 (Gazzetta Ufficiale), Accertamenti per la diagnosi delle malformazioni (Art. 1): This decree address the screening of the following diseases: CF, phenylketonuria and congenital hypothyroidism. It establish that these services must be free of charge.
Law no. 675, 31 December 1996, D.P.R. no. 318, 28 July 1999, on Medical Information Privacy
The Italian Committee on Bioethics, Orientamenti bioetici per i test genetici, 19 November 1999: Genetic information must be treated as the general medical information and therefore it is forbidden to give this information to insurers or employers without consent.

Norway

Ministry of Health and Social Affairs,¹⁶⁸ Biotechnology Related to Human Beings, Report No. 25 to the Storting, Oslo, 1992–1993: Screening shall only take place if it offers clear therapeutic benefits for the individual.
Act Relating to the Application of Biotechnology in Medicine, Law no. 56 of 5 August 1994: This Act gives a frame of general guidelines for assisted reproductive technology applications, research on embryos, preimplantation diagnosis, prenatal diagnosis, genetic testing after birth and gene therapy. This Act also specifies obligations about authorization of institutions applying medical biotechnology and the duty for such institutions to report regularly on their activities to the Ministry of Health and Social Affairs.¹⁶⁹

Genetic testing for diagnostic purposes is permitted without restrictions, but the law requires that comprehensive genetic counselling be given before, during and after genetic tests performed on healthy persons for presymptomatic, predictive or carrier purposes. Presymptomatic, predictive and carrier testing is limited to individuals above the age of 16 years. When the information refers to a diagnostic test, genetic results may be communicated, without restrictions, between medical institutions authorized to apply medical biotechnology. However, the exchange of genetic information about presymptomatic, predictive or carrier tests is restricted. The Act states that it is prohibited to ask whether a presymptomatic, predictive or carrier test has been performed. Gene therapy is only allowed as somatic cell therapy and individuals below the age of 16 years need the consent of their parents or guardians.¹⁶⁹

Portugal

The Ratification of the ‘Convention for the Protection of Human Rights and Dignity of the Human Being and the additional protocol on the prohibition of cloning human beings' was published in January 2001. Since 1995, the Ministry of Health has named a task force in order to prepare guidelines for medical genetics and prenatal diagnosis.

Act No. 10/95 related to the Protection of Personal Information
Despacho Ministerial No. 9108/97, Guidelines for Molecular Genetic Diagnosis
Circular normativa No. 6/DSMIA/DGS, 1997, Recommendations for Maternal Serum screening Programs
Despachos Ministerials No. 5411/97 e No 10325/99, Principles and Practice for prenatal diagnosis
Convention for the Protection of Human Rights and Dignity of the Human Being and the additional protocol on the prohibition of cloning human beings, 2001

Spain

There is no specific legislation to ensure the appropriateness of genetic procedures and the confidentiality of personal data. Consent to undergo to any medical tests is granted through General Health Law of 25 April 1986; article 10.6 states the right of a patient to choose freely between options given by the physician in charge of his case. Protection of data related to health may be reached through general rules concerning personal data protection, as well as through provisions which recognise the duty of confidentiality in the health field. The Organic Law regulating the automated processing and protection of personal data of 13 December 1999 provides special measures of protection for personal health data. Among other fundamental rights, the general legal principle of non discrimination is stated by the Spanish Constitution of 1978, which forbids any kind of discrimination on grounds of any personal condition.¹⁷⁰

Quality assessment schemes for genetic services have been addressed in specific areas. In 1996, standard criteria for quality control of cytogenetic and prenatal diagnosis laboratories were issued, and currently there are plans to develop quality standards for clinical and molecular genetic services.¹⁷⁰

In September 1999, Spain subscribed and joined the European Agreement for the Protection of Human Rights and Dignity of the Human Being with regard to the Application of Biology and Medicine.

The Spanish Constitution of 1978
Protocolos de Procedimientos Diagnosticos y Terapeuticos. Obstetricia. Medicina Materno Infantil (SEGO), Madrid 1985
General Health Law of 25 April 1986
The Royal Decree of 21 November of 1986: This Decree rules out the conditions for the Centers to be authorized to perform therapeutic abortion, preimplantation and prenatal tests, as well the requisites to be filled in by practitioners concerned.
The Act 35/1988 of 22 November on Techniques of Assisted Reproduction, 1988: This law regulates the human reproduction techniques when they are performed by a specialist in authorized public or private medical centers. Article 12 regulates preimplantation and prenatal diagnosis. Articles 14–17 permit investigation and experimentation for the treatment and prevention of genetic disorders under determined conditions. Article 159 permits that manipulation of human genes only when the intention is the elimination or the improvement of a serious illness.
Ministry of Health, Handbook for Prenatal Diagnosis, Madrid, 1989
The Organic Law regulating the automated processing of personal data of 29 October 1992
Recomendaciones y Protocolos en Diagnostico Prenatal. Report of the European Study Group on Prenatal Diagnosis, 1993
Guidelines for prenatal cytogenetics, 1996
The Organic Law regulating the automated processing and protection of personal data of 13 December 1999
Catalan agency for health technology assessment and research, Prenatal screening of cystic fibrosis, 2000: The proposes were: According to the available scientific evidence on the efficacy and effectiveness of prenatal screening of CF, the implementation of a systematic, general screening programme for CF in all newborns in Catalonia is not recommended. Coordinated international studies, presenting new scientific evidence on the effectiveness of the early diagnosis and treatment of CF are required – it is unlikely that the Catalan data alone would provide with a conclusive answer to this issue.

Sweden

National Board of Health and Social Welfare, Neonatal screening for metabolic diseases, SOSFS, 1988
Law 114 of March 1991 on the Use of Certain Gene Technologies within the Context of General Medical Examinations (1993): This law examines the use of certain genetic technology in medical screening. There must be a permission from the National Board of Health and Welfare. Authorization from this body is required before DNA testing can be carried out. This requirement extends to the use of genetic screening techniques for diagnostic purposes.
Swedish Society for Medical Genetics, 1994: The Swedish Society for Medical Genetics has brought forward a quality assessment document for clinical genetic units including guidelines for cytogenetic and molecular routines as well as for genetic counselling. This document has been adopted by all the university clinical genetic departments as a minimum standard for quality.¹⁷¹
The Ministry of Health and Social Affairs, Guidelines on the use of prenatal diagnosis and preimplantation diagnosis, 1995: These guidelines regulate prenatal diagnoses and include prenatal diagnosis by genetic tests. All pregnant women must be informed about prenatal diagnosis. Screening is in principle to be avoided in connection with prenatal diagnosis. Preimplantation diagnosis may only be used for the diagnosis of serious, progressive, hereditary diseases, which lead to premature death and for which there is no cure or treatment.
National Board of Health and Social Welfare, Genetics in Health Care: Guidelines, 1999
The Agreement between the Swedish government and the Association of insurance companies, 1999: According to this agreement, the use of information about an individual that has been obtained by studying his genetic characteristics other than for medical purposes is prohibited. This agreement is valid to the year 2002.

Switzerland

The Swiss Federal Constitution, 1992: The Constitution provides laws on human genetic practice and medical-assisted procreation. Article 119 (introduced in 1992 as article 24 novies, old numbering) paragraph 2 states that the genetic make-up of an individual may be investigated, registered or divulged only with his consent or on the basis of a legal prescription. Article 24 novies forbids preimplantation diagnosis in either clinical or research settings.
The Swiss Academy of Medical Sciences, Medical–ethical Guidelines for Genetic Investigations in Humans, Approved by the Senate of the Swiss Academy of Medical Sciences on 3 June 1993: Although there are no official national standards for genetic counselling, the medical–ethical guidelines define the content of genetic counselling in connection with genetic investigation for all physicians.¹⁷² The medical–ethical guidelines also define the spectrum of activities belonging to genetic services in general. Quality control standards exist for laboratory investigations.

The Swiss Academy of Medical Sciences guidelines are not legally binding, unless cantonal legislation gives them binding force.

Bill regarding Genetic Investigations in Humans, September 1998: This bill has not yet been debated in Parliament. Section 2 allows genetic investigations for medical purposes. Article 10 describes conditions for genetic screening.

The Netherlands

The Population Screening Act, 1992 (1996): This act states that screening by means of ionizing radiation, screening for cancer and screening for serious disorders for which there is no treatment are not allowed without ministerial approval, based on the advice and assessment of the Health Council. A license may be refused if the screening programme is scientifically unsound, if it conflicts with statutory regulations or if the risks are found to outweigh any benefits.
The Health Council of The Netherlands: Committee Genetic Screening, Genetic Screening, The Hague, 1994: See the section on The Health Council of The Netherlands: Committee Genetic Screening, Genetic Screening.

The United Kingdom

Following the publication of the House of Commons Select Committee on Science and Technology's report (1995), the Department of Health established an advisory sub-committee, The Human Genetics Advisory Commission, which provides advice relating to genetic testing and screening. In 1998, The United Kingdom planed to introduce a new Data Protection Act to implement the terms of the Privacy Directive enacted by the European Union in 1995.¹¹² The aim of this Directive is the harmonization of data protection laws in Europe in order to facilitate the development of medical research while maximizing the protection of individual privacy.

Royal College of Physicians, Prenatal Diagnosis and Genetic Screening Community and Service Implications, London, 1989
Royal College of Physicians, Purchasers' Guidelines to Genetic Services in the NHS, London, 1991
The Nuffield Council on Bioethics, Genetic Screening: Ethical Issues, 1993: See the section on The Nuffield Council on Bioethics, Genetic Screening: Ethical Issues.
Working Party of The Clinical Genetics Society, A Report on Genetic Testing of Children, 1994
House of Commons Select Committee on Science and Technology,¹⁷³ human Genetics: the Science and Its Consequences, Third Report, HMSO, 1995: This report examines the ethical issues arising from genetic technology and recommends the setting up of a Human Genetics Commission to regulate the advance of genetic technology.
The British Hyperlipidaemia Association, Screening for hyperlipdemia in childhood: Recommendations, 1996
The Advisory Committee of Genetic Testing, Code of Practice and Guidance on Human Genetic Testing Services Supplied Direct to the Public, 1997
The Advisory Committee on Genetic Testing, A report on Genetic Testing for Late Onset Disorders, 1998: The Advisory Committee on Genetic Testing aims in this report is to set out the issues to be considered before genetic testing for late onset disorders is offered and during the provision of such tests. The major issues relate principally to requests for genetic testing from healthy relatives of patients with a late-onset genetic disorder. Population-based genetic screening, diagnostic testing of symptomatic individuals and genetic susceptibility testing for common disorders are briefly considered.
The Royal College of Physicians, Clinical Genetic Services: Activity, Outcome, Effectiveness and Quality, London: Royal College of Physicians, 1998
The Nuffield Council on Bioethics, Mental Disorders and Genetics: The Ethical Context, 1998
Human Fertilisation & Embryology Authority, Code of Practice, 1998
Genetic Interest Group, Guidelines for Genetic Services, London, G.I.G., 1998
Genetic Interest Group, Confidentiality Guidelines, London, G.I.G., 1998
General Medical Council, Seeking patients' consent: the ethical considerations, London: General Medical Council, 1999: This guidance on screening spells out what this should include: the purpose of the screening, the likelihood of positive/negative results, the uncertainties and risks attached to the screening process, any significant medical, social, or financial implications of screening for the particular condition or predisposition, and follow-up plans, including the availability of counselling and support services.
Department of Health, Second Report of the UK National Screening Committee, London, Department of Health, 2000: This report contains five chapters: (1) screening policy-making – getting research into practice; (2) organizing screening programmes; (3) the NSC's forward programme; (4) a protocol for pilot management; and (5) the NSC's recommendations since 1998. The NSC's recommendations are for adult programmes (abdominal aortic aneurysms, diabetic retinopathy, vascular disease, osteoporosis, cardiomyopathy, ovarian cancer, and prostate cancer), antenatal programme (syphilis) and child health programme.

European institutions

Council of Europe, Recommendation on Prenatal Genetic Screening, Prenatal Genetic Diagnosis and Associated Genetic Counselling, 1990 ¹⁷⁴
Council of Europe,¹⁷⁵ Recommendation on genetic testing and screening for health-care purposes of the European Committee of Ministers (1992, n. R92, 3): All members of the Council of Europe adopted this Recommendation, except the Netherlands.
Council of Europe, Recommendation on Screening as a Tool of Preventive Medicine of the European Committee of Ministers, 1994 ¹⁷⁶
Council of Europe, Privacy Directive 94/46, 1995
Council of Europe,¹⁷⁷ Convention for the Protection of Human Rights and Dignity of the Human Being with Regard to the Application of Biology and Medicine, 1997: The Convention is the first internationally-binding legal text designed to protect people against the misuse of biological and medical advances. This text has legal effect in the Council of Europe's member States that have ratified it. Each state then has to bring its laws into line with the Convention. Belgium, Germany, Ireland, and the United Kingdom have not yet signed the Convention and it is no force until it is signed and implemented into the national law.

The Convention sets out to preserve human dignity, rights and freedoms, through a series of principles and prohibitions. It does not refer explicitly to genetic screening, at most according to Article 5, a genetic test ‘may only be carried out after the person concerned has given free and informed consent to it’; according to Article 12, ‘tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counselling’. The restriction of genetic diagnostics to health or scientific purposes is reinforced by Article 11 that states that ‘any form of discrimination against a person on grounds of his or her genetic heritage is prohibited’. However, the Convention does not say whether individuals who have had a genetic test for health or scientific purposes will be required to disclose the results of that test to an insurance company or an employer.

The Convention has endorsed the Council of Europe recommendations on genetic screening.

Council of Europe, Recommendation 1512 on the protection of the human genome, 2001

Australia

Human genetic Society of Australasia, Newborn Screening, 1999: The HGSA proposed general recommendations for newborn screening: Newborn screening is recommended provided that: (i) there is benefit for the individual from early diagnosis. (ii) The benefit is reasonably balanced against financial and other costs. (iii) There is a reliable test suitable for newborn screening. (iv) There is a satisfactory system in operation to deal with diagnostic testing, counselling, treatment and follow-up of patients identifies by the test.
Human Genetic Society of Australasia, Guidelines for the Practice of Genetic Counselling, 1999: This guidelines concerns the general practice of genetic counselling. However, the following citation refers to screening tests: ‘Screening tests are non-diagnostic, population-based tests providing the client with a personalised risk. When performed prenatally, screening tests may identify fetal abnormalities or reveal an increased risk of fetal abnormalities. When performed post-natally, the aim of genetic screening is to identify individuals at increased risk of developing symptoms of a disorder in the future, with a view to offering intervention eg, newborn screening. The nature of a screening test should be clearly distinguished from a diagnostic test to the client. Appropriate written and/or verbal information should be provided prior to testing. Support and counselling should be made available to persons receiving a high-risk result so that future options are understood.’

United States of America

The ASHG Policy Statement for Maternal Serum alpha-fetoprotein Screening Programs and Quality Control for Laboratories Performing Maternal Serum and Amniotic Fluid alpha-fetoprotein Assays, 1987
Statement of The ASHG on Cystic Fibrosis Carrier Screening, 1990
Statement of The ASHG on Cystic Fibrosis Carrier Screening, 1992
American Medical Association, E-2.137 Ethical Issues in Carrier Screening of Genetic Disorders, 1994: The Association recommends that all carrier testing must be voluntary, and informed consent from screened individuals is required. Confidentiality of results is to be maintained. Results of testing should not be disclosed to third parties without the explicit informed consent of the screened individual. Patients should be informed as to potential uses for the genetic information by third parties, and whether other ways of obtaining the information are available when appropriate. Carrier testing should be available uniformly among the at-risk population being screened. One legitimate exception to this principle is the limitation of carrier testing to individuals of childbearing age. In pursuit of uniform access, physicians should not limit testing only to patients specifically requesting testing. If testing is offered to some patients, it should be offered to all patients within the same risk category. The direction of future genetic screening tests should be determined by well thought out and well-coordinated social policy. Third parties, including insurance companies or employers, should not be permitted to discriminate against carriers of genetic disorders through policies that have the ultimate effect of influencing decisions about testing and reproduction.
The ACMG Clinical Practice Committee, Principles of screening, 1997: The American College emphasizes the following points:
- A screening programme should have a clearly defined purpose, whether the purpose is research or medical care
- A screening programme is more than a laboratory test. Therefore, follow-up evaluation and counselling by genetic professionals must be guaranteed.
- A screening programme should be reviewed by the appropriate board and be evaluated periodically to determine if it is meeting its goals.
The ACMG, Policy Statement: Fragile X Syndrome – Diagnostic and Carrier Testing, 1997
The ACMG, Standards and Guidelines for Clinical Genetics Laboratories, Second Edition, 1999: These voluntary standards are an educational resource to assist medical geneticists in providing accurate and reliable diagnostic genetic laboratory testing consistent with currently available technology and procedures in the areas of clinical cytogenetics, biochemical genetics and molecular diagnostics. These standards establish minimal criteria for clinical genetics laboratories. The Standards should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. The accuracy and dependability of all procedures should be documented in each laboratory. This should include in-house validation and/or references to appropriate published literature. Specialized testing, not available to all laboratories, requires appropriate and sufficient documentation of effectiveness to justify its use. In determining the propriety of any specific procedure or test, the medical geneticist should apply his/her own professional judgment to the specific circumstances presented by the individual patient or specimen. Medical geneticists are encouraged to document the reasons for the use of a particular procedure or test, whether or not it is in conformance with these Standards. These Standards will be reviewed and updated periodically to assure their timeliness in this rapidly developing field.
The ACMG, Laboratory Standards and Guidelines for Population-based Cystic Fibrosis Carrier Screening, 2001: The Committee recommends that CF carrier screening be offered to non-Jewish Caucasians and Ashkenazi Jews, and made available to other ethnic and racial groups who will be informed of their detectability through educational brochures, the informed consent process, and/or other efficient methods. For example, Asian Americans and Native Americans without significant Caucasian admixture should be informed of the rarity of the disease and the very low yield of the test in their respective populations. Testing should be made available to African Americans, recognizing that only about 50% of at-risk couples will be detected. An educational brochure and a consent form which recites this information as well as a sign-off for those choosing not to be tested after reading these materials is being prepared by the Working Group on Patient Education and Informed Consent.
American Medical Association, Report 4 of the Council on Scientific Affairs (I-01) Newborn Screening: Challenges for the Coming Decade, 2001: The AMA:
1. 1)
  Supports the report from the Newborn Screening Task Force, ‘Serving the Family from Birth to the Medical Home: A Report from the Newborn Screening Task Force,’ and recognizes the authors of this report as the major stakeholders in the field of newborn.
2. 2)
  Supports the Health Resources and Services Administration, Centers for Disease Control and Prevention, and the American College of Medical Genetics as they study the process of standardization of outcomes and guidelines for state newborn screening programs.
3. 3)
  Will monitor developments in newborn screening and revisit the topic as necessary.
American Academy of Pediatrics, Ethical Issues With Genetic Testing in Pediatrics (RE9924), 2001: The AAP has adopted these recommendations:
1. 1)
  Established newborn screening tests should be reviewed and evaluated periodically to permit modification of the programme or elimination of ineffective components. The introduction of new newborn screening tests should be conducted through carefully monitored research protocols.
2. 2)
  Genetic tests, like most diagnostic or therapeutic endeavors for children, require a process of informed parental consent and the older child's assent. Newborn screening programmes are encouraged to evaluate protocols in which informed consent from parents is obtained. The frequency of informed refusals should be monitored. Research to improve the efficiency and effectiveness of informed consent for newborn screening is warranted.
3. 3)
  The AAP does not support the broad use of carrier testing or screening in children or adolescents. Additional research needs to be conducted on carrier screening in children and adolescents. The risks and benefits of carrier screening in the pediatric population should be evaluated in carefully monitored clinical trials before it is offered on a broad scale. Carrier screening for pregnant adolescents or for some adolescents considering pregnancy may be appropriate.
4. 4)
  Genetic testing for adult-onset conditions generally should be deferred until adulthood or until an adolescent interested in testing has developed mature decision-making capacities. The AAP believes that genetic testing of children and adolescents to predict late-onset disorders is inappropriate when the genetic information has not been shown to reduce morbidity and mortality through interventions initiated in childhood.
5. 5)
  Because genetic screening and testing may not be well understood, pediatricians need to provide parents the necessary information and counseling about the limits of genetic knowledge and treatment capabilities, the potential harm that may be done by gaining certain genetic information, including the possibilities for psychological harm, stigmatization, and discrimination, and medical conditions and disability and potential treatments and services for children with genetic conditions. Pediatricians can be assisted in managing many of the complex issues involved in genetic testing by collaboration with geneticists, genetic counsellors, and prenatal care providers.
6. 6)
  The AAP supports the expansion of educational opportunities in human genetics for medical students, residents, and practicing physicians and the expansion of training programmes for genetic professionals.

International organizations

WHO, Principles and Practice of Screening for Disease, Geneva: WHO, 1968: See the section on ‘WHO guidelines for screening for Disease’.
Council for International Organization of Medical Sciences, The Declaration of Inuyama, Human Genome Mapping, Genetic Screening and Gene Therapy, Geneva, 1990: The CIOMS recommended that: ‘The central objective of genetic screening and diagnosis should always be to safeguard the welfare of the person tested: test results must always be protected against unconsented disclosure, confidentiality must be ensured at all costs, and adequate counselling must be provided.’
WHO, Community Genetics Services in Europe, Geneva: WHO, 1991
UNESCO, International Bioethics Committee, ¹⁷⁸ Report of the Working Group on Genetic Screening and Testing, 1994
UNESCO, Report of Subcommittee on Bioethics and Population Genetics, Bioethics and Human Population Genetics Research, 1995
WHO, Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services, Geneva: WHO, 1995
WHO Technical Report Series, Control of Hereditary Diseases, Geneva: WHO, 1996
WHO, Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetics Services, Geneva: WHO, 1997

The World Health Organization emphasizes the following points:

Genetic screening and testing should be voluntary
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
Results should not be disclosed to employers, insurers, schools or others without the individual's consent
Test results should be followed by genetic counselling, particularly when they are unfavorable
Newborn screening should be mandatory and free of charge if early diagnosis and treatment will benefit the newborn
UNESCO, The Universal Declaration on the Human Genome and Human Rights, 1997 ¹⁷⁹
HUGO, Statement on the Principled conduct of Genetics Research, 1995 ¹⁸⁰

Appendix B

Contributions

This document was reviewed by the ESHG Public and Professional Policy Committee (PPPC). Members of the PPPC were:

Ségolène Aymé (Paris, France) Chair

Martin Bobrow (Cambridge, UK)

Gerry Evers-Kiebooms (Leuven, Belgium)

Peter Farndon (Birmingham, UK)

Helena Kääriäinen (Helsinki, Finland)

Ulf Kristoffersson (Lund, Sweden)

Marcus Pembrey (London, UK)

Sandy Raeburn (Nottingham, UK)

Albert Schinzel, ( Zürich, Switzerland)

Joerg Schmidtke (Hannover, Germany)

Leo ten Kate (Amsterdam, The Netherlands)

Lisbeth Tranebjaerg (Copenhagen, Denmark) Secretary

This document was discussed during a workshop in Amsterdam (NL), 19–20 November, 1999 where 51 experts from 15 European countries were invited. The workshop was organized by Ségolène Aymé, Gerry Evers-Kiebooms, and Leo ten Kate.

The first draft was sent out to a wide range of people and organizations for consultation. The following consultants sent in critical comments.

Austria

Gerd Utermann, Institute of Medical Biology and Human Genetics, University of Innsbruck, Innsbruck

Belgium

Maryse Bonduelle AZ VUB, Medical Genetics, Brussels
Jean-Jacques Cassiman, Centre for Human Genetics, University of Leuven, Leuven
Laurence Cordier, ELSA-Biotechnology, European Commission, Brussels
Kris Dierickx, Centre of Medical Ethics and Law, School of Medicine, KU Leuven
Anne Hagemeijer-Hausman, Center for Human Genetics, KU Leuven, Leuven
Eric Legius, The Clinical Genetics Unit, University of Leuven, Leuven
Herman Nys, Center for Bio-medical Ethics and Law, Catholic University, Leuven
Jacques Rondal, European Down's Syndrome Association, Liege
Erik Tambuyzer, Genzyme Corporate Affairs, Leuven
Esther Vamos, Brugmann Hospital, Cytogenetics Laboratory, Brussels

Cyprus

Kyproula Christodoulou, The Cyprus Institute of Neurology and Genetics, Nicosia
Violetta Christophidou-anastasiadou, The Cyprus Institute of Neurology and Genetics, Nicosia

Denmark

Lene Koch, Institute of Social Medicine, University of Copenhagen, Copenhagen
Lars Vejerslev, Department of Obstetrics and Gynaecology, Municipal Hospital, Holbaek

Eastern Countries

Ivo Baric, Department of Paediatrics, University Hospital Centre, Zagreb
Evgeny Ginter, Research Center for Medical Genetics/Sciences, Moscow
Georges Kosztolanyi, Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest
Maria Kucerova, Genetics Department, Thomayer University Hospital, Prague
Vaidutis Kucinskas, Human Genetics Centre, Vilnius University, Vilnius
Andres Metspalu, Institute of Molecular and Cellular Biology, Tartu University, Tartu
Jiri Santavy, Dep Fetal Medicine, University Hospital, Olomouc

Finland

Pertti Aula, member of the Working Party on Genetic Screening, Helsinki
Riitta Salonen, department of obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki
Paivi Santalahti, University of Turku, Turku

France

Association Hemochromatose France
Romain Favre, Département d'Echographie et Médecine fœtale, CMCO-SIHCUS, Schiltigheim
Claude Ferec, Laboratoire de biologie génétique, Brest
René Frydmann, Hôpital Antoine Béclère, Clamart
Isabelle Hirtzlin, Centre de recherche en economie de la sante, INSERM U 357, Kremlin-Bicetre
Claire Julian- Reynier, Institut Paoli Calmettes, Marseille
Michèle Junière, Mosaiques - Association des X-fragiles
Agnès Lordier-Brault, Direction Générale de la Santé, Paris
Stanislas Lyonnet, Hôpital Necker -Enfants Malades, Paris
Jean-Louis Mandel, Institut Génétique, Biologie moléculaire et cellulaire, Illkirch
Virginie Scotet, Laboratoire de Biologie Génétique, Brest
Gwen Terrenoire, Centre de Sociologie de l'éthique, CNRS, Paris
Yves Ville, Centre Hospitalier Intercommunal Poissy-Saint Germain en Laye

Germany

Irmgard Nippert, Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster
U. Sancken, Institute of Human Genetics, Güttingen
Traute Schröder-Kurth, Eibelstadt
Klaus Zerres, Universitâtsklinikum der RWTH Aachen, Aachen

Greece

Ariadni Mavrou, Genetic Unit, Department of Paediatrics, Athens University Medical School, Athens
Catherine Metaxotou, Genetic Unit, Department of Paediatrics, Athens University Medical School, Athens
Michael Petersen, Institute of Child Health, Athens
Christos Yapijakis, Neurogenetics Unit, Athens

Italy

Bruno Brambati, Mangiagalli Institute, First Clinic of Obstetrics and Gynaecology, University of Milan, Milan
Lara Brambati, Mangiagalli Institute, First Clinic of Obstetrics and Gynaecology, University of Milan, Milan
Antonio Cao, Istituto di Clinica e Biologia dell'Eta Evolutiva-Universita degli Studi di Cagliari
Elisa Calzolari, Instituto Genetica Medizina, Ferrara
Domenico Coviello, Modena
Bruno Dallapiccola, Tor Vergata University, Roma
Emilio Donti, Centre of Perinatal Medicine, University of Perugia
Faustina Lalatta, Citogenetics, Milan
Galanello Renzo, Istituto di Clinica e Biologia dell'Eta Evolutiva, Universita degli Studi di Cagliari, Cagliari
Giovanni Neri, Instituto di Genetica umana, Universita Cattolica, Roma

Norway

Tor Flage, National Board of Health, Oslo
Trond Leren, Ulleval Hospital, Oslo
Karen Orstavik, Dept. Medical Genetics, Ulleval Hospital, Oslo

Portugal

Joao Lavinha, Centro de Genetica Humana, Lisbon
Luis Nunes, Nucleo de Genetica e Diagnostico, Prenatal-Direccao Geral Saude, Lisboa
Heloisa Santos, Medical Genetics, Hospital de Santa Maria, Lisboa
Jorge Sequeiros, ICBAS, Porto

Spain

Joaquina Gabarron, Unidad Tecnica de Genetica Humana, Murcia
Teresa Pàmpols, Institut de Bioquimica Clinica, Corporacio Sanitària Clinic, Barcelona
Maria Ramos-Arroyo, Medical Genetics, Pamplona
Feliciano Ramos Fuentes, Section of Genetics, Department of Pediatrics, University of Zaragoza, Zaragoza
Alberto Valiente, Servicio de Genetica, Hospital Virgen Del Camino, Pamplona

Sweden

Lena Jonsson, Ministry of Health and Social Affairs, Stockholm
Magnus Nordenskjöld, Department of Clinical Genetics, Stockholm
The-Hung Bui, Department of Clinical Genetics, Karolinska Hospital, Stockholm
Lars Hagenfeldt, The PKU Laboratory, Centre for Inherited Metabolic Diseases, Huddinge

Switzerland

Stylianos Antonarakis, Division of Medical Genetics, CMU, Geneva
Monica Gersbach-Forrer, Division of Medical Genetics, University Hospital, Geneva
Sinuhe Hahn, Department of Obstetrics and Gynecology, University of Basel, Basel
Wolfgang Holzgreve, University of Basel, Department of Obstetrics and Gynecology, Basel

The Netherlands

Joep Defesche, Academic Medical Centre, Amsterdam
Guido de Wert, Institute for Bioethics, Maastricht
Nico Leschot, Department of Human Gentics, University of Amsterdam, Amsterdam
Martinus Niermeyer, Erasmus University, Rotterdam
Arie van Bellen, The alliance of patient and parent organizations
Jan van Lith, Academic Medical Centre, Amsterdam
Gert van Ommen, Leiden University Medical Center Faculty of Medicine, Leiden
Mark Wildhagen, Department of Public Health, Erasmus University Rotterdam

United Kingdom

Elisabeth Anionwu, Institut of child health, Mothercare pediatric genetics, London
David Brock, Human Genetics Unit, The University of Edinburg, Edinburg
Angus Clarke, Institute of Medical Genetics, University of Wales, Cardiff
John Dodge, Department of Child Health, Singleton Hospital, Swansea
Angela Flannery, R&D Genetics, Discovery Research, Zeneca Pharmaceuticals, Cheshire
Neva Haites, Department of Medical Genetics, Aberdeen Royal Hospitals NHS Trust, Aberdeen
Hilary Harris, Wolfson Genetics Enquiry Centre, St Mary's Hospital, Manchester
Rodney Harris, Wolfson Genetics Enquiry Centre, St Mary's Hospital, Manchester
Shirley Hodgson, Genetics Centre, Guy's Hospital, London
Liz Jazwinska, Biopharmaceutical Research 1 Development, SmithKline Beechmam, Harlow
Alastair Kent, Genetic Interest Group, London
Mairi Levitt, Centre for Professional Ethics, University of Central Lancashire, Preston
Theresa Marteau, Psychology and Genetics Research Group, Guys Medical School, London
Bernadette Modell, Department of primary care & population services, Whittington Hospital, London
Mike Modell, Department of primary care & population services, Whittington Hospital, London
Evelyn Parson, University of Wales College of Medicine, Cardiff
David Porteous, Department of Medical Sciences, University of Edinburgh, Edinburgh
David Shapiro, UNESCO, London
Darren Shickle, School of Health and Related Research, University of Sheffield, Sheffield
Rosalinda Snijders, Harris Birthright Research Centre for Fetal Medicine, London
Maurice Super, Department of Clinical Genetics, Royal Manchester Children's Hospital, Manchester

International

Agnes Bankier, Institute Royal Children's Hospital, Parkville, Australia
Judith Hall, University of Vancouver, Vancouver, Canada
Neil Holtzman, Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, USA
Bartha-Maria Knoppers, Centre de Recherche en Droit Public, University of Montreal, Montreal
Darryl Macer, University of Tsukuba, Japan
Elaine Strass, The American Society of Human Genetics, Rockville, USA
Dorothy Wertz, Eunice Kennedy Shriver Center, Waltham, USA
Ellen Wright Clayton, Division of General Pediatrics, Medical Center East, Nashville, USA

This document forms part of a BIOTECH program financed by the Commission of the European Communities (CEE BIO4–CT98–0550).

All rights reserved. No part of this document may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcoping, or by any information storage and retrieval system, without permission in writing from the copyright holder.

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Godard, B., ten Kate, L., Evers-Kiebooms, G. et al. Population genetic screening programmes: principles, techniques, practices, and policies. Eur J Hum Genet 11 (Suppl 2), S49–S87 (2003). https://doi.org/10.1038/sj.ejhg.5201113

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Published: 13 January 2004
Issue date: 01 December 2003
DOI: https://doi.org/10.1038/sj.ejhg.5201113

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Appendices

Appendix A:

International and national regulatory frameworks

European Countries

Austria

Belgium

Denmark

Finland

France

Germany

Greece

Iceland

Ireland

Italy

Norway

Portugal

Spain

Sweden

Switzerland

The Netherlands

The United Kingdom

European institutions

Australia

United States of America

International organizations

Appendix B

Contributions

Austria

Belgium

Cyprus

Denmark

Eastern Countries

Finland

France

Germany

Greece

Italy

Norway

Portugal

Spain

Sweden

Switzerland

The Netherlands

United Kingdom

International

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