Legal Q&A: Are there guidelines and policy recommendations regarding genetic risk communication in public?

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The BBMRI.at Legal Helpdesk Service – operated by legal experts from BBMRI.at partner UNIVIE– answers questions on legal and regulatory matters around biobanking and/or using biological samples and data. This service is offered to BBMRI.at partners to support them, as biobanking and research using biological samples and data (e.g. human, animal/veterinary, microbial, etc.) may raise legal questions. Answers provided by UNIVIE to legal questions are published in the BBMRI.at Knowledge Base.

QUESTION:

Are there guidelines and policy recommendations regarding genetic risk communication in public?

ANSWER:

1. The Austrian Gentechnickgesetz

As representatives of the scientific community put it, “[…] genetic services such as genetic testing have extensively been used to assess an individual’s propensity to develop diseases based on the presence of genetic variations known to be associated with such diseases, thereby providing information on the individual’s disease risk.”^[1] The decision to pursue genetic testing and the management of the psychological effects of the communication, to patients, of the potentially life-changing results of genetic testing has relevant ethical implications and are, to different extents in different countries and legal frameworks, addressed by legal acts.

In Austria, the subject of genetic testing is regulated by the Gentechnikgesetz, the Gene Technology Act, also known as the GTG^[2], first published July 1994 (BGBl. Nr. 510/1994, came into force in 1995) and most recently altered in 2022 (through federal law BGBl. I Nr. 8/2022). The most relevant provisions of the above-mentioned GTG for the topic at hand are those contained in Section IV of the GTG (§§ 64 to 79).^[3] Genetic analysis is defined as “Laboratory analysis that leads to statements about specific properties regarding the number, structure or sequence of chromosomes, genes or DNA segments or products of DNA and their specific chemical modifications, and which thus enables statements to be made about a carrier status, a disease risk, an existing disease or a course of disease or therapy in a human being according to the state of the art in science and technology” (§ 4(23), authors’ translation).

The GTG distinguishes between genetic testing for medical purposes (§ 65) and for scientific purposes (§ 66). The GTG describes four types of genetic testing for medical purposes: genetic testing to “[…] determine an existing disease, prepare for treatment or monitor the course of treatment […]” (authors’ translation), based on information about concrete somatic changes of number, structure, sequence or chemical modification of chromosomes, genes or DNA-segments (type 1) and to “[…] detect an existing disease that is based on a germline mutation” (type 2) (authors’ translation). Types 3 and 4 cover testing for healthy individuals who wish to determine their predisposition for a disease (in particular, the predisposition for the potential future onset of a genetically based disease) or to establish the carrier status of a disease, for which, due to new scientific knowledge and technical progress, prophylaxis or treatment either are (type 3) or are not available (type 4). Results from a type 4 analysis may not be documented in medical reports and medical histories. For results from type 2 and 3 analyses, documentation in doctors’ letters and medical records is usually useful to ensure optimal treatment. However, the patient can also opt-out from this documentation.^[4] Additional personal data protection requirements are set out in § 71 which prescribes that whoever carries out the testing must keep any personal data secure and secret and comply with the rules of the Austrian Data Protection Act. § 67 prevents employers and insurers, including their agents and employees from collecting, demanding, accepting or otherwise exploiting results from genetic analyses of employees, jobseekers or policyholders or insurance applicants.

In the latter two types (3 and 4), testing may only be carried out in facilities approved for this purpose^[5] by the Ministry of Health and only at the instigation of a specialist (medical specialist trained in human genetics or an attending diagnosing medical specialist), as described in § 68. In Austria, the profession of “genetic counsellor” does not exist. Professionals who carry out genetic testing patient-oriented services are medical physicians with a sub specialisation in Medical Genetics.^[6]

Whether the results are “general research results”, i.e. “[…] synthesized data and conclusions drawn from a group of research participants […]”^[7], or rather results that are relevant to a single individual should be considered. Informing research participants about general and individual research results is a relevant matter for both ethical and legal purposes. As a widespread concern, the topic is mentioned in several international law instruments (both legally and non-legally binding), albeit not all of them providing the differentiation between the governance of returning general and individual research results.^[8] Examples of such documents include:

• UNESCO International Declaration on Human Genetic Data – Article 10;
• Council for International Organizations of Medical Sciences (CIOMS). International Ethical Guidelines for Health-related Research Involving Humans, Fourth Edition. Geneva. 2016 – Article 7;
• Council of Europe. Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Biomedical Research (CETS No. 195) – Article 27.

Relaying information to a patient or research subject regarding individually relevant research results may be warranted under the ethical principles of autonomy and self-determination (from which the patients’ right to be informed on its current health status can be derived) as well as the principle of doing no harm (in the context of a doctor-patient relationship)^[9], which has evolved and extended to a principle of beneficence: “Ethically, physicians as well as researchers are obliged to provide patients or research subjects respectively, with individually important information if this may benefit them”.^[10]

In Austria, the sharing of test results – including unexpected results of clinical significance – obtained from genetic testing follows strict rules, set in § 71(4) of the GTG. These data can only be passed to staff at the facility where the data have been collected (providing they have had direct involvement with the collection, processing and evaluation of these data), the subject of the data, the legal representative of the subject of the data (according to § 69(2)), the physician who has initiated the genetic tests and the attending physician as well as any other person whom the data subject has explicitly given a written consent to do so (with written revocation of this consent possible at any time).^[11] Additionally, § 70 GTG states that a doctor who carried out the test may recommend the tested person to further recommend genetic testing to affected relatives if the results point to a possible danger to the affected relative or when a test from a relative is necessary to interpret the results. Doctors are not obliged by law to provide such information to the relatives directly, but they are required to share a recommendation with the individual to do so himself/herself, based on the results of genetic testing of the individual.

Moreover, § 69 GTG indicates that a genetic analysis of type 2, 3 and 4 can take place only after the person to be examined has provided a written confirmation that they have been informed about the nature, scope and significance of the analysis. The consultation after the analysis must include factual, comprehensive discussion on the test results and medical facts, as well as possible medical, social and psychological implications. If there is a predisposition to a hereditary disease with serious physical, psychological and social effects, the advisability of additional non-medical consultation by a psychologist or psychotherapist or by a social worker must also be indicated in writing. In addition, reference can be made to other counseling facilities and self-help groups. Nevertheless, the person seeking advice must be informed at the beginning of the consultation that he or she can state at any time that he or she does not wish to know the result and the consequences of the genetic analysis.

As mentioned above, GTG also defines the rules for genetic testing for scientific purposes (§ 66 GTG). The main requirement defined therein imposes that “genetic analyses on humans for scientific and educational purposes may only be carried out on de-identified samples. Non-genetic medical data that is to be linked to genetic data of the same person must also be de-identified.” (§ 66(1) GTG – authors’ translation). The assignment of this data to the respective sample donor may only take place in institutions that have valid consent, required according to the GDPR, from the data subject (i.e. patient / research participant) for this assignment. (§ 66(1) GTG). Results from genetic analyses for scientific purposes may only be linked or published if suitable measures have been taken to ensure that, apart from the exception indicated above (i.e., when the sample donor gave his/her consent), the sample donor cannot be identified. (§ 66(2) GTG – authors’ translation). Hence, also the genetic risk communication in such setting is, by default not possible, unless the individual whose data and samples were analysed did opt-in for receiving such information in a form of an informed consent.

2. Summary

• In Austria, the subject of genetic testing is governed by the Gentechnikgesetz, the Gene Technology Act, also known as the GTG, which regulates certain aspects of genetic risk communication in clinical research and scientific settings.
• 69 GTG regulates information, explanation and consent. Genetic analyses of types 2, 3 and 4 require that the person due to be examined is informed prior to the examination about the nature, scope and significance of the analysis. If the genetic analysis is carried out prenatally, the information provided must also include information on the risks of the planned examination (§ 69(1) GTG). At the beginning of such consultation the person to be examined must be informed that they can at any time state not wishing to know the result and the consequences of the genetic analysis (§ 69(3) GTG);
• The examined person must be informed of unexpected results which are of direct clinical significance or which he or she has expressly asked about. If the examined person has not asked for such information, the information must be provided in such a way that it does not cause the examined person any concern; in borderline cases, this information may be omitted altogether (§ 71(4) GTG);
• 70 GTG states that the doctor who carried out the test may recommend the examined person to further recommend genetic testing to affected relatives if the results point to a possible danger to the affected relative or when a test from a relative is necessary to interpret the results. Otherwise, anyone who carries out or arranges genetic analyses or processes the personal data obtained from them must keep such data confidential (§ 71(1) GTG).
• There are no specific laws or Guidelines in Austria to cover the topic of polygenic risk communication.

3. Further Resources

Additional resources which may be helpful.

Legal:

– Bundesgesetz, mit dem Arbeiten mit gentechnisch veränderten Organismen, das Freisetzen und Inverkehrbringen von gentechnisch veränderten Organismen und die Anwendung von Genanalyse und Gentherapie am Menschen geregelt werden (Gentechnikgesetz – GTG). Available from: RIS – Gentechnikgesetz – Bundesrecht konsolidiert, Fassung vom 14.08.2024 (bka.gv.at) (accessed: 14/08/2024).

– Bundeskanzleramt Österreich – Bioethikkommission, Stellungnahme der Bioethikkommission zu Gen und Genomtests im Internet, 10.05.2010, available from: https://www.bundeskanzleramt.gv.at/dam/jcr:821b891a-4217-49e7-abb2-1effe6f3fc4a/Stellungnahme_der_Bioethikkommission_zu_Gen-_und_Genomtests_im_Internet_vom_10._Mai_2010.pdf (German only).

– Other relevant document: Stellungnahme der Bioethikkommission beim Bundeskanzleramt zum Entwurf eines Bundesgesetzes, mit dem das Fortpflanzungsmedizingesetz, das Allgemeine bürgerliche Gesetzbuch und das Gentechnikgesetz geändert werden (Fortpflanzungsmedizinrechts-Änderungsgesetz 2015 – FMedRÄG 2015), available from: https://www.bundeskanzleramt.gv.at/dam/jcr:ecbae513-5ea7-4c76-867e-6316bff33baf/FMedRAEG_2015.pdf (German only).

Bundesministerium für Soziales, Gesundheit, Pflege und Konsumentenschutz. (2008) Gentechnikbuch: 1. Kapitel, Kriterienkatalog. Anforderungen an Veranlassung und Durchführung einer Genetischen Analyse im Sinne des § 65 Abs 1 Z 2,3 und 4 GTG (Typ 2,3, Und 4) und an eine Einrichtung gemäß § 68 GTG, available at: https://www.verbrauchergesundheit.gv.at/Lebensmittel/gentechnik/rechtoe/GTG/gentechnikbuch__1__kapitel.pdf?9nbwax (accessed: 24/09/2024).

Other:

L Kalokairinou et al. Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape, in Journal of Community Genetics 9 (117-132) (2017), available from: https://link.springer.com/article/10.1007/s12687-017-0344-2