II. Legal aspects
1. The German Genetic Diagnostics Act (GenDG)
Following a long and intense discussion - both in the specialist disciplines involved and in politics - as well as several political initiatives (see module Political initiatives for legislation on genetic diagnostics), the German Bundestag passed the law on genetic testing of humans Genetic Diagnostics Act - (GenDG) (see module Draft bill of the German Federal Government), regulating the use of predictive genetic testing in Germany, on 24th April 2009. The German Genetic Diagnostics Act entered into force on 1st February 2010 (§ 27).
The Act explicitly aims at defining the prerequisites for genetic testing and genetic analysis performed in the context of genetic testing, as well as for the use of genetic samples and data, and at preventing discrimination on grounds of genetic predisposition, in order to ensure the state's commitment to respect and to protect human dignity and the right to informational self-determination (see module Informational self-determination). (§ 1)
The scope of the Act is not limited to predictive genetic testing: it extends, in fact, to genetic testing carried out on (born) human beings (i.e. postnatal) as well as to genetic examination of embryos and foetuses (prenatal; see special provisions in § 15), covering different contexts and purposes of application (§ 2 para. 1). Besides the use of genetic testing for medical purposes, the Act regulates the use in the field of insurance (§ 18) and in working life (§§ 19-22), as well as genetic screenings (§ 16), and also covers tests to determine parentage ("paternity tests", §17). However, it does not address the use of genetic testing and analysis or the handling of genetic samples and data for research purposes (§ 2 para. 2 no. 1). Moreover, the Act does not apply to measures carried out under provisions relating to criminal proceedings, international mutual assistance in criminal matters, and the Federal Criminal Police Office Act (BKA-Gesetz) (§ 2 para. 2 no. 2 letter a), or relating to the Protection against Infection Act (IfSG) (§ 2 para. 2 no. 2 letter b).
A core objective of the GenDG is to ban discrimination on grounds of one's own genetic predisposition or that of a genetically related person, due to undergoing or not undergoing a genetic test or analysis, or due to the results of such a test or analysis (§ 3 para. 1). Moreover, the Act provides for measures to promote quality assurance in the field of genetic analysis (§ 4), stipulating in particular that institutions performing genetic testing must be specifically accredited.
Genetic testing for medical purposes may only be carried out by a physician ("Arztvorbehalt" (see module Arztvorbehalt); § 7). While diagnostic testing may be conducted by a general practitioner, predictive testing must be performed by a medical specialist. Furthermore, the informed consent of the person concerned is a necessary prerequisite to legally perform genetic testing (§ 8). Prior to giving consent, the person concerned shall be informed of the nature, significance and consequences of the genetic test to be performed (§ 9). Performing genetic testing on persons unable to give consent shall only be allowed under certain conditions (§ 14). Moreover, the Act contains provisions relating to genetic counselling (§ 10) and to disclosure of the results of genetic tests (§ 11). In the case of predictive genetic testing, the person concerned shall receive genetic counselling from a doctor with specific qualifications before the test is performed and once the results are on hand, unless this person - after having received written information on the contents of the counselling - has waived their right to genetic counselling in writing. After counselling, the person concerned shall be allowed adequate time for consideration before undergoing the test (§ 10 para. 2).
Restrictive provisions apply to the use of genetic testing in connection with access to insurance: neither before nor after the conclusion of an insurance contract may insurance providers require the insured to undergo genetic testing or analysis (§ 18 para.1 no. 1). Furthermore, insurers are not entitled to demand the disclosure of results from an earlier genetic test or analysis, and they may not receive or use such results or data (§ 18 para. 1 no. 2). However, this general prohibition does not apply to life insurance, occupational disability insurance, general disability insurance and care pension insurance if the agreed insurance value amounts to more than EUR 300.000 or an annual pension of more than EUR 30.000 .
With regard to working life, the use of genetic testing is also subject to strict limitations: in particular, employers may not require employees to undergo genetic testing or analysis, neither before nor after the conclusion of an employment contract (§ 19 para. 1). By the same token, they are not entitled to demand the disclosure of results from an earlier genetic tests or analysis, or receive or use such results (§ 19 para. 2). Separate provisions exist for the use of genetic testing in the context of occupational safety and health (§ 20).
Finally, the Act provides for the establishment of a multidisciplinary independent genetic diagnostics committee at the Robert Koch Institute, composed by 13 experts from the disciplines of medicine and biology, two experts from the disciplines of ethics and law, as well as two representatives of leading patient and consumer advocacy groups. The members and deputy members of the committee shall be appointed by the Federal Ministry of Health for a period of three years (§ 23 para. 1). The tasks of the genetic diagnostics committee include, amongst others, the development of guidelines regarding the state-of-the-art of science and technology, pertaining to qualification requirements for genetic counselling and to requirements regarding the content of information and genetic counselling. Moreover, if requested by individuals or institutions conducting genetic testing or analysis, the committee may deliver an expert opinion on specific questions regarding the interpretation and implementation of these guidelines (§ 23 para. 5). Finally, the committee will submit every three years a progress report assessing the development in genetic diagnostics; this report shall be published by the Robert Koch Institute, with the first publication scheduled for late 2012 (§ 23 para. 4).
2. Guidelines and opinions
German Medical Association
The German Medical Association (Bundesärztekammer) drew up comprehensive rules governing predictive genetic diagnostics, which is adopted on February 14th, 2003. The "Guidelines on predictive diagnostics" of the German Medical Association (see module German Medical Association) specify that a predictive genetic examination may only be carried out if the patient gives his or her consent after receiving adequate information and advice. In this context, the patient must consider the examination to be a sensible measure. As far as minors are concerned, the German Medical Association states that a genetic test may only be performed if there is a possibility of implementing preventive or therapeutic measures. On June 30th 2008 the German Medical Association published a first statement (see module The German Medical Association’s statement in respect to the bill on genetic diagnostics) with respect to the German Federal Government\s draft for the bill on genetic diagnostics.
National Ethics Council
The National Ethics Council (see module National Ethics Council) seeks to strike a fair balance of interests between job applicants and employers. With this in mind, it envisages that the use of predictive health information should be permitted within narrow limits. According to the National Ethics Council, predictive genetic tests should only be permissible as a condition of appointment if they relate to diseases or predispositions to disease that with a prevailing probability (more than 50%) will not insignificantly impact the applicant's suitability within 6 months of hiring.
In its opinion "Predictive health information in the conclusion of insurance contracts" (see module Opinion of the National Ethics Council Predictive health information in the conclusion of insurance contracts) published in February 2007, the National Ethics Council speaks out in favour of retaining the insurance industry's moratorium (see above). In this respect, the National Ethics Council does not fundamentally question the principle of risk equivalence (see module Principle of risk equivalence) for private insurance contracts. The applicant's right of personality is, however, violated if investigations are undertaken to determine the individual risk. In order to counteract this and at the same time do justice to the interests of the insurer, the National Ethics Council believes that a balance must be struck: it should only be possible to obtain information about the applicant's state of health if it is restricted to the extent necessary for the specific insurance contract. What is more, the use of the collected data should only be permissible for the underwriting of a concrete insurance contract.
In its opinion the National Ethics Council further puts forward the view that this must be extended. In its assessment, it is untenable that a person who has had a genetic test can conceal the results, but somebody who knows their genetic predisposition through other methods or circumstances (family history, molecular and cytogenetic tests) cannot. The National Ethics Council refers to this state of affairs as "inconsistent treatment of genetic information". With a view to avoiding this inconsistency, the moratorium should be extended to all genetic information including family history. In particular, an insurer should not be permitted to conduct medical examinations within the scope of underwriting that could reveal predispositions to disease of which the applicant him- or herself is unaware.
The Study Commission (Enquete-Kommission) (see module Study Commission) on "Law and Ethics in Modern Medicine" of the 14th Federal Parliament recommended as long ago as 2002 that genetic tests conducted on human subjects should be governed by extensive legislation on genetic diagnostic testing. It stresses the right of the individual to informational self-determination. Together with federal and state data protection officers, it calls for an explicit ban on the carrying out of predictive genetic tests without the consent of the patient. In addition, the Study Commission urges legislation covering how such tests should be conducted as well as the procedures to be observed, inter alia, for screening purposes.
3. International regulations
There are currently no concrete binding laws governing the application of predictive genetic tests or the use of genetic information on the level of the United Nations (UNO / UNESCO) or on the pan-European level (Council of Europe / European Union). Nevertheless, relevant opinions and regulations do exist.
The UNESCO (see module UNESCO) adopted the Universal Declaration on the Human Genome and Human Rights in November 1997 and the International Declaration on Human Genetic Data in October 2003. According to UNESCO, every genetic test i.e. including all predictive genetic tests requires free consent based on adequate information. In addition, it requires that the patient should have a fundamental right to decide for themselves whether or not they wish to be informed of any findings.
The Convention of Human Rights and Biomedicine (see module Convention on Human Rights and Biomedicine (MRB)), calls for the need to obtain the patient's consent after providing adequate information. Art. 12 of the Convention, which refers explicitly to predictive genetic tests, states: "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."
Critics of this provision object that it is difficult to unambiguously define the concept of health. What is more, Art. 12 of the Convention only covers tests relating to diseases or predispositions to diseases. Consequently, it does not extend to tests that from the outset are not designed to identify diseases or predispositions to diseases, but instead reveal other genetic traits of an individual for example, such as particularly good hearing.
In November 2008 an additional protocol concerning genetic testing for health purposes (see modul additional protocol) was passed and is ready for signature. Until now only two member states of the council of Europe did sign the protocol - at least five ratifications are necessary to become law.
In May 2008 a new bill (see module Genetic Information Nondiscrimination Act of 2008) came into effect in the United States of America. This bill is to prevent discrimination on grounds of genetic information in respect of health insurance and employment.