The Additional Protocol to the Convention on Human Rights and Biomedicine

The Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes was opened for signature on 27 November 2008.⁴³⁴ It will enter into force on the condition that 5 states, including 4 member states, ratify the protocol.⁴³⁵ To date the Protocol has been ratified by 1 state and signed by 4 further states.⁴³⁶

The Protocol sets out ethical and legal provisions to be applied to genetic testing carried out for health purposes. It includes principles about information concerning human genetics and its testing, informed consent, the advice necessary concerning genetic information and the quality of services. Chapter I defines the object and scope of the Protocol, clarifying that Member States shall protect the dignity and identity of all human beings and guarantee everyone, without

discrimination, respect for their integrity and other rights and fundamental freedoms⁴³⁷ with regard to genetic tests⁴³⁸ carried out for health purposes.⁴³⁹ Article 2 makes it clear that the protocol does not apply to genetic tests carried out on the human embryo or foetus and to those carried out for research purposes.⁴⁴⁰ Chapter II sets out general provisions, including that the welfare of the human being shall prevail over the sole interest of society or science,⁴⁴¹ and prohibiting discrimination and stigmatisation on the grounds of genetic heritage or characteristics.⁴⁴²

Chapter III of the Additional Protocol concerns the quality of genetic services, demanding of Member States to ensure that genetic services are of appropriate quality, in particular that genetic

433 Ibid.

434 Additional Protocol on Genetic Testing, note 31.

435 Chart of Signatories to the Additional Protocol on Genetic Testing, note 31, at:

http://conventions.coe.int/Treaty/Commun/ChercheSig.asp?NT=195&CM=8&DF=3/5/2008&CL=ENG. (last visited 27.04.2012).

436 Ibid. To date the protocol has been ratified by Slovenia and signed by Moldova, Malta, Iceland and Finland.

437 Additional Protocol on Genetic Testing, note 31, Article 1.

438 Ibid. Genetic tests, in Article 1, are defined as tests that involve the analysis of biological samples of human origin and that aim specifically to identify the genetic characteristics of a person which are inherited or acquired during early prenatal development.

439 Ibid., Article 2, 1. The Additional Protocol is thus narrower in scope than the Declaration on Human Genetic Data, note 4, discussed under 2.3.2 below in this chapter, which in Article 5 declares that human genetic data and human proteomic data may be collected, processed, used and stored for the purposes of (i) diagnosis and health care…; (ii) medical and other scientific research…; (iii) forensic medicine and civil, criminal and other legal proceedings, (iv) or any other purpose consistent with the Universal Declaration on the Human Genome, note 4, and the international law of human rights.

440 Ibid., Article 2, 2. It is also limited in its application to chromosomal analysis, DNA or RNA analysis and functionally equivalent procedures.

441 Ibid., Article 3.

442 Ibid., Article 4.

tests meet generally accepted criteria of scientific validity and clinical validity; that laboratories are subject to regular monitoring; and that persons providing genetic services are appropriately

qualified.⁴⁴³ Article 6 further demands that clinical utility of a genetic test should be an essential criterion for deciding to offer this test to a person or a group of persons while Article 7 asks for that genetic tests are performed under individualized medical supervision.

Chapter IV deals with questions of genetic counseling and informed consent. Article 8 states that the person undergoing a test shall be provided with prior appropriate information in particular on the purpose and the nature of the test and that for predictive tests,⁴⁴⁴ appropriate genetic

counseling should be made available. Article 9 holds that a genetic test may only be carried out if the person concerned has given his or her free and informed consent. Genetic tests on persons unable to consent may only be carried out for that person's direct benefit and if authorization from the entity responsible for this person has been obtained and after that entity has been provided with appropriate prior information. Wishes relating to a genetic test expressed previously by an adult at a time where he or she had capacity to consent shall be taken into account.⁴⁴⁵

In the case of minors a genetic test shall be deferred until that person has come of age unless that delay would be detrimental to his or her health or well-being.⁴⁴⁶ If such a test is undertaken the authorization of the entity responsible for the minor has to give his or her authorisation, however, the opinion of the minor shall be taken into consideration as an increasingly determining factor in proportion to his or her age and degree of maturity.⁴⁴⁷

Chapter VI deals with the specific case of genetic tests on persons unable to consent being carried out for the benefit of family members. Here, Article 13 provides that exceptionally, and by

derogation from the provisions of Article 6, paragraph 1, of the Oviedo Convention and of Article 10 of the Additional Protocol on Genetic testing, a genetic test may be legally carried out, for the benefit of family members, on a person who does not have the capacity to consent, if certain conditions are met, including that the purpose of the test is to allow the family member(s) concerned to obtain a preventive, diagnostic or therapeutic benefit that has been independently evaluated as important for their health, or to allow them to make an informed choice with respect to procreation⁴⁴⁸; the benefit envisaged cannot be obtained without carrying out this test⁴⁴⁹; the

443 Ibid., Article 5.

444 Ibid. According to Article 8.2 "tests concerned" are tests of a monogenic disease; tests serving to detect a genetic predisposition or genetic susceptibility to a disease; tests serving to identify the subject as a healthy carrier of a gene responsible for a disease. For background information see Direct-to-Consumer Genetic Testing Kits, Harvard Women's Health Watch, September 2010, at:

http://www.health.harvard.edu/newsletters/Harvard_Womens_Health_Watch/2010/September/direct-to-consumer-genetic-testing-kits (last visited 27.04.2012).

445 Ibid., Article 12 (2).

446 Ibid., Article 10.

447 Ibid., Article 12 (1).

448 Ibid., Article 13 a.

449 Ibid., Article 13 b.

risk and burden of the intervention are minimal for the person who is undergoing the test⁴⁵⁰; the expected benefit has been independently evaluated as substantially outweighing the risk for private life that may arise from the collection, processing or communication of the results of the test⁴⁵¹ and authorisation by the appropriate responsible entity has been given.⁴⁵²

Article 14 provides that tests on biological materials when it is not possible to contact the person concerned and where that person has not expressedly opposed such a test may be carried out in accordance with the principle of proportionality, where the expected benefit cannot be otherwise obtained and where the test cannot be deferred. Tests on deceased persons for the benefit of a family member may also be carried out if the consent or appropriate authorisation required by law has been obtained.⁴⁵³

Chapter VII ensures respect for private life and right to information, stating in Article 16 that everyone has the right to respect for his or her private life, in particular to the protection of his or her personal data derived from a genetic test and that everyone undergoing a genetic test is entitled to know and not to know any information collected about his or her health derived from this

test.⁴⁵⁴ Biological samples obtained through tests have to be used and stored in a secure and the confidential manner.⁴⁵⁵

Chapter VIII is concerned with genetic screening programmes for health purposes. Such

programmes may only be implemented if it has been approved by the competent body, following an independent evaluation of its ethical acceptability and fulfillment of certain specific conditions, including that the programme is recognized for its health relevance for the whole population or section of population concerned; that the scientific validity and effectiveness of the programme have been established.⁴⁵⁶ Finally, Article 20 lies down that the public shall have appropriate access to objective general information on genetic tests, including their nature and the potential

implications of their results.

450 Ibid., Article 13 c.

451 Ibid., Article 13 d.

452 Ibid., Article 13 e. Article 13 f in addition stipulates that the person not able to consent shall, in proportion to his or her capacity to understand and degree of maturity, take part in the authorisation procedure. The test shall not be carried out if this person objects to it.

453 Ibid., Article 15.

454 Ibid., Article 16 (4) however allows for that in exceptional cases, restrictions may be placed by law on the just stated provision in the interests of the person concerned.

455 Ibid., Article 17. A similar provision can be found in the Declaration on Human Genetic Data, note 4, discussed in 2.3.2 in the same chapter, which states in Article 14 that data which can be connected to an individual person should not be revealed to employers, insurance companies and educational institutions (or to families) without the explicit consent of the patient.

456 Ibid., Article 18. Article 18 c to e also hold that appropriate preventive or treatment measures in respect of the disease or disorder which is the subject of the screening, are available to the persons concerned; appropriate measures are provided to ensure equitable access to the programme; and the programme provides measures to adequately inform the population or section of population concerned of the existence, purposes and means of accessing the screening programme as well as the voluntary nature of participation in it.

Overall the Protocol has been noted positively for dealing, for the first time at the international level, with directly accessible genetic tests for which a commercial offer has been or could develop in future.⁴⁵⁷ It has also been noted as an effort to counter the lack of a coherent regulatory

landscape in Europe when it comes to genetic testing.⁴⁵⁸ On the other hand, the lack of support for the Oviedo Convention and for the protocol from such countries as the United Kingdom and Germany has been said to considerably weaken the protocol's impact.⁴⁵⁹ Moreover, it has been submitted that it may take several years before the additional protocol enters into force while the field of genetic services provision, blossoming now in unprecedented ways, might warrant a more immediate legal regulation.⁴⁶⁰ Finally, it has been criticized that it is not quite clear what is being regulated by this additional protocol. According to the scope of this protocol, it should apply “to tests, which are carried out for health purposes, involving analysis of biological samples of human origin and aiming specifically to identify the genetic characteristics of a person which are inherited or acquired during early prenatal development.⁴⁶¹ However, as Nys remarks, "some direct-to-consumer companies make a distinction between services that directly affect healthcare decision making (which might fall under the additional protocol) and making health-related claims (which might not fall under the additional protocol)".⁴⁶² For example, so Nys, the genome scanning company 23andMe has been recorded to argue that the “genetic information provided…about potential health conditions should not be used to estimate your overall risk of future disease” and that it is not “intended to be medical advice.”⁴⁶³ Here and in analogous cases it is not quite clear whether the protocol applies.⁴⁶⁴

2.1.3. First Conclusions with regard to the standards set by the Council of