First explicit law in the area of bioethics was enacted in France in 1994 (Loi 94-653 and 94-654, major revisions in 2004 and 2011). Biomedical regulation has also been adopted in Norway (Bioteknologilov 2003) and Spain (Ley 14/2007 de investigación biomedical). All these three acts contain several provisions related to genetic testing. As yet, most countries have applicable provisions for the genetic testing in the general legal framework governing activities and professionals in the health field, and other legislation, such as in vitro fertilization (IVF; e.g. conditions for PGD), data protection, patient rights, and penal code (e.g. discrimination). Lately, some countries have adopted specific laws on genetics, such as Austria, Germany, Portugal, Sweden and Switzerland (Table ). In 2012, the Czeck Republic is also enforcing a special healthcare act that will provide a sound and modern legal framework for genetic testing. To the author’s knowledge, special provisions on genetic testing exist also in Bulgaria.
Legal acts governing the use of genetic testing in Western Europe
The Austrian Gene Technology Act (GTG, Gentechnikgesetzes BGBl. Nr. 510/1994, as revised later) came into force in 1995. It covers a wide range of genetic applications not limited to human medicine and stipulates also the use genetically modified organisms. GTG is completed by the Austria Book of Biotechnology (Gentechnikbuch)4
published by the Advisory Board on Biotechnology. The normative status of the Gentechnikbuch is derived from the GTG, thus making it a legally valid normative instrument. The Gentechnikbuch presents the state of the art (‘der Stand von Wissenschaft und Technik’) of genetics and is updated by the Advisory Board of Biotechnology, also established by GTG. Chapter IV governs genetic testing and gene therapy on humans. Article 65 limits genetic testing on humans for medical purposes only to be performed in accordance with the established state of the art. The genetic tests are classified into four different types depending on the clinical purpose and availability of therapeutic measures. Article 67 prohibits explicitly employers and insurance companies to ask and access genetic information. Moreover, GTG sets requirements to the informed consent, qualification of the involved medical specialists and laboratories, and compulsory registers of the facilities providing services.
The Austrian Act regulates genetic activities in a rather strict and detailed manner. The institutions performing genetic services need to be licenced, and their staff and facilities shall comply with the legal requirements.
The French legislation governing genetic testing is based on the Bioethical Act that modified the Civil Code and Public Health Code in 2004 (Loi 2004-800 relative à la bioéthique modifying code civil and code de la santé publique). These codes were recently revised with an impact on genetic testing provisions (LOI n° 2011-267 du 14 mars 2011 d’orientation et de programmation pour la performance de la sécurité intérieure (1), Chapitre III: utilisation des nouvelles technologies, Section 1: identification d’une personne par ses empreintes genetiques and LOI n° 2011-814 du 7 juillet 2011 relative à la bioéthique). Article 16-10 of the civil code limits examination of a person’s genetic characteristics only for medical purposes or scientific research. An explicit written consent is required after the person is informed about the nature and finality of the examination. However, genetic ‘fingerprint’ of a person may be used for identification purposes under limited situations (Art 16-11). Article 1131-1 of the Public Health Code stipulates the use and communication of the person’s genetic information. Identification based on genetic information after death is in principle subject to the person’s consent given during lifetime. A violation of these norms may result in 1 year of imprisonment and fines of 15,000 Euros under penal code. The French provisions also set forth licencing and professional requirements on medical doctors operating who perform genetic tests.
In case a serious genetic anomaly is diagnosed that could pose a potential risk also to family members, the doctor is obliged to give the patient a written document informing of the risks, if the patient does not tell his family members who could benefit of preventive measures. A specific medical information process is available via the Biomedical Agency (l’Agence de la Biomédicine) in such cases, if the patient so prefers. It is specifically stated in the law that the patient cannot be charged with responsibility to give the information of his genetic anomaly to anybody. Thus, the information procedure is only an option in case the patient finds it difficult to give the information himself. This provision has been questioned by Francois Vialla (2006
, p. 25) who asks why an HIV-positive patient hiding his condition from his or her partner can be charged with a civil and criminal responsibility while the opposite applies to a person with a serious genetic anomaly, who does not want to disclose the information to his or her close relatives even though a therapeutic or preventive cure exists to help dealing with the anomaly.
The German law is also very detailed and comprehensive (Gendiagnostikgesetz-GenDG 374/09).5
The purpose of the Act under Article 1 is to determine the requirements for genetic examinations and genetic analyses, and to prevent discrimination and harm on the basis of genetic characteristics with a special regard to the protection of human dignity and right to self-determination. The scope of application of GenDG is for medical purposes, determination of descent, insurance and employment. The act does not apply to research and criminal procedure. The Act covers prenatal genetic examinations and genetic mass screenings. Under Article 7, diagnostic genetic examinations may primarily be conducted only by medical doctors who are certified specialists in human genetics. Article 18 prohibits the use of genetic information in the insurance context, but for certain types of insurance contracts, e.g. life insurance with a significant premium, the insurer may demand and use results of a previously conducted genetic test. In several provisions, the German lawmaker refers to ‘the generally accepted status of science and technology
’. An Independent Genetic Diagnostics Commission at Robert Koch Institute, established under Article 23, is to assess this ‘generally accepted status of science and technology
’. Like in Austria, this solution allows for the necessary flexibility in legislation when the regulatory target is so fluid.
Genetic testing in Norway is governed by Chapter 5 of the Biotechological Act (Lov om humanmedisinsk bruk av bioteknologi m.m 2003-12-05 nr 100). Genetic examinations are limited for medical purposes with diagnostic or therapeutic aims. The facilities performing tests shall be licenced. The Act contains provisions on consent, genetic counselling, testing of the children, and informing family members and relatives. Under Article 5-9, the patient decides if he or she wants to inform his or her relatives of the detected hereditary disease in the family. If the patient cannot or does not want to inform the relatives, the healthcare personnel can do that, provided that the condition in question is enlisted by the health department. In exceptional cases, the healthcare personnel can also inform the relatives if the patient cannot consent to the disclosure of the information.
Portugal issued the Personal Genetic Information and Health Information Act in 2005 (Lei No 12/2005 de Janeiro). The Act governs performance of the genetic tests, use of genetic information and conduction of research in rather a detail in 22 articles. Genetic information may be obtained in many ways, but under Article 6, predictive tests to determine predispositions to common diseases, and presymptomatic tests for monogenic tests are excluded from the notion of genetic information. Genetic counselling shall accompany genetic testing. Insurance companies are not allowed to seek genetic information and employers only for justified health and safety purposes. Testing minors requires specific consideration as to the benefit of test. For instance, severe incurable late onset diseases shall not be tested.
Genetic testing in Spain is governed by the Act on Biomedical Investigations (Ley 14/2007 de Investigación Biomédica). The Aim of the Act is to protect dignity and identity as well as inherent rights of the human being. Under Article 1.2, the Act is applied to genetic analysis and handling of genetic data exclusively in the healthcare setting. Under Article 9, the genetic analysis shall fulfil the criteria of appropriateness, quality, equality and accessibility. Specific provisions are in Chapter II, Article 46-57. The patient shall be given written information on the nature and finality of the test, possibility of unexpected findings, and potential implications to the family members. Also, the consent to the test shall be express and specific in a written form. Further, it is stipulated that the patient has the right to know or not to know the personal genetic information obtained by the test. However, in case the patient has chosen not to know, his family members may be informed if the information is deemed necessary for them to avoid a serious harm. The Act contains provisions on handling the confidential data, genetic counselling and genetic screening. Finally, it also sets forth that performance of genetic tests as well as the genetic counselling shall be provided by qualified personnel in accredited centres.
The Genetic Integrity Act came into force in 2006 (Lag om genetisk integritet m.m (2006:351)). It stipulates on the restrictions to certain uses of biotechical developments for medical purposes and on certain legal consequences related thereto. The aim of the Act is to safeguard person’s integrity. The Act was preceded by a thorough governmental proposal (Prop. 2005/06:64). Among the argumentation in the proposal regarding genetic integrity, the lawmaker discusses human dignity and genetic integrity, and concludes that the genetic code determines the uniqueness and identity of a human being. The mere risks of misuse and discrimination compose a threat to the integrity. It is the genetic component that is regarded unique. Moreover, self-determination is emphasised to be as one of the central ethical issues related to genetic integrity. The classic ‘right-to-know’ and ‘right-not-to-know’ are mentioned as a core to the principle of self-determination. Here again, genetic knowledge is deemed to require special provision.
The scope of application is the use of genetic analyses and information and gene therapy, genetic studies in general health examinations, PND and PGD, research and processing of ovocytes, insemination and IVF. Also, the Act contains provisions regarding responsibility for trade of human biological material.
A general principle set forth in Article 2:1 prohibits the use of or demanding genetic information without a support of legal provision as a precondition for any agreement. Genetic information can be used for risk evaluation in person insurance in certain cases (insured is over 18 years old and the insurance amount is significant). Genetherapy and research to develop therapies that have capacity to modify the human germ line is prohibited.
Sweden is the only Nordic country that has not ratified the Biomedicine Convention mostly due to difficulties to comply with some of its provisions (Rynning 2011
). Nevertheless, Sweden seems to have followed the provisions of the Biomedicine Convention closely when drafting legal acts, such as Act on Genetic integrity, or when revising Biobank Act in 2011.
The scope of application of Federal Act on Human Genetic Analyse (Loi fédérale sur l’analyse génétique humaine (LAGH)i du 8 oct 2004 (1.4.2007)) is human genetic analyses performed in the field of medicine, employment, insurance. In addition, it addresses civil liability. Research is explicitly excluded. An authorisation to perform genetic analysis is required by a competent federal authority.
The purpose of LAGH is to assure protection of human dignity and personality, to prevent abusive genetic tests and abusive use of genetic information, and to guarantee the quality of genetic analyses and their intepretation.
Article 3 of LAGH contains a long list of definitions. It prohibits discrimination on the basis of genetic heritance. It contains provisions on consent, on the right not to know and protection of genetic information. Use of in vitro device outside a relevant professional practise is in principle prohibited save for some exceptions. Even then, the use of in vitro device shall always happen under medical control and all possibilities for misintepretations shall be excluded.
Similar to all the examined acts in this review, performance of genetic analyses is limited to medical purposes. Minors should not be tested unless his protection so requires. In exceptional cases when no other means exist to detect a serious hereditary diseases or a carriership to such a disease, the test may be performed. Article 12 sets specific conditions on genetic screening programmes.
According to article 13, a genetic analyses may only be prescribed by, or under surveillance of, a licenced doctor. Presymptomatic genetic analyses, prenatal genetic analyses or analyses for family planning may only be performed by, or under surveillance of, a doctor of appropriate post-graduate formation. The doctor prescribing the analyses shall take care that the patients receive genetic counselling.
Article 14 sets a general requirement for a genetic counselling prior to genetic analyses (presymptomatic, prenatal, family planning). Counselling shall be given by a non-directive manner by a qualified person. The article contains detailed requirements for the counselling in general, completed by following articles applicable in specific circumstances (e.g. PGD).
Article 19 concerns communicating the results of genetic analyses. As a principle, a doctor is not allowed to disclose the results of a genetic analyses to other than the person tested or his legal representative. With the consent of the person, the results can be disclosed to his family members, spouse or partner. If the person in question refuses to disclose such information to the persons mentioned above, even though the protection of their important interests would require such information, the doctor may ask the cantonal authority to be free from the professional secrecy obligation. This is a unique way of dealing with these delicate situations, and in my opinion, also an appropriate way from the point of view of a medical doctor to solve the ethical dilemma.
Re-use of biological material shall in principle according to Article 20 comply with the person’s consent. However, genetic analyses of such material may be performed for research uses if the material is anonymised and the person in question has been informed of his rights and he has not expressly opposed. Research regulations shall also be applied.
Article 21-25 concern genetic analyses in the employment field. As a main rule, when making, or during the course of, an employment contract, the employer or the doctor of the employer are not allowed to demand a presymptomatic genetic analysis, to demand results of such an analysis if already performed, or to demand a genetic analysis to determine the characteristics of an employee not relevant to health. Exemptions include occupational diseases relevant to a certain position.
Articles 26-28 concern use of genetic analyses in insurance. General principle is that an insurance company cannot require genetic analyses as a precondition for an insurance agreement. However, already performed genetic analyses can be taken into account in certain restricted cases.
Federal council appoints under article 35 of the act an independent expert commission for genetic analyses which shall, inter alia, elaborate norms for quality control of genetic analyses, give recommendations, opinions and follow scientific progress and practices, and take legislative initiatives, when deemed necessary. This solution to let an independent source to evaluate and follow scientific progress is similar to ones adopted by Austria and Germany.