Kaja Kaźmierska is a research fellow at the Institute of Social Sciences at Humboldt-Universität zu Berlin. She works on the research project “Judicial autonomy under authoritarian attack”, her PhD examines the challenges to the independence of the CJEU and the ECtHR.
Introduction
BRCA1 and BRCA2 are the two genes associated with a much higher risk of especially breast and ovarian cancer than the general population. Women with a BRCA1 mutation have an approximately 80% risk of breast cancer, and 60% risk of ovarian cancer, during their adult lives, whilst these percentages in the general population are 10% and 1%, respectively. Approximately 1 in 400 persons is a BRCA mutation carrier. Nowadays, tests for these mutations are offered in many European countries, if there are indications that an individual might be a mutation carrier, such as repetitive breast and ovarian cancer diagnoses in a biological family. A healthy individual may undergo such a test – a blood test – and within 4-6 weeks learn they may need to enrol in an early monitoring cancer programme, involving frequent and multiple health screenings and preventive surgeries.
The current legal framework in Europe
There is no common European approach to BRCA testing, and even the eligibility requirements as to who is tested differs among the countries.
At the EU level, the main legal provision is Art. 3 of the Charter of Fundamental Rights, which provides for the right to integrity of the person, and especially in the fields of medicine and biology requires a “free and informed consent”. Art. 21 of the charter prohibits discrimination, based inter alia on “genetic features”.
The Council of Europe 1997 Convention on Human Rights and Biomedicine is the only legal act at European level, aimed at protection of human rights specifically in the area of biomedicine, and draws on the values of the European Convention on Human Rights. Especially relevant in the context of BRCA testing is the Additional Protocol to the Convention on Human Rights and Biomedicine, concerning Genetic Testing for Health Purposes, which deals with the procedures for conducting the genetic testing, the rights of the patients before, during and in the aftermath of the procedure. However, only a small number of the CoE countries signed and ratified the Convention on biomedicine, even less countries signed and ratified the protocol, which means that both these legal acts remain unenforceable in the majority of the CoE Member States. Czech Republic, Portugal and Slovenia are the only EU countries where the Protocol has entered into force.
Likewise, there are no advisory opinions of the European Court of Human Rights concerning the protocol on genetic testing. The research into the ECtHR’s database, HUDOC, brings 0 results for such search word “BRCA”, meaning that the Court so far has not ruled on any issues concerning the BRCA testing.
A positive result of the BRCA genetic testing is a difficult situation to get your head around. However, the test result is just a prelude to many questions that arrive– and to which the law in Europe does not have a clear answer. These questions may cover the issues of procreation, adoption, privacy or getting an insurance, for instance.
Procreation
If one of the parents is a BRCA mutation carrier, there is a 50% probability that the child is, too. Equally, there is a 50% chance of passing it on to one’s offspring – regardless of their gender. Already on the ethical level it presents a dilemma. Studies prove that knowledge of being a carrier impacts the decisions on having biological children. How could the law help, though? Should an access to the pre-natal diagnostics (PND) be offered? Or an in vitro fertilisation, which would also allow to screen the embryo for the said mutation? PND is technically possible, but not uncontroversial: even less so since a BRCA mutation is not related to a fatal illness, and instead only to a probability, however high, of such an illness.
Furthermore, there are still countries in Europe, where in vitro fertilisation per se is contested –advocating for a possibility of genetic screening for BRCA mutations during the procedure would bring it even further.
Equally, in some countries a severe or fatal illness of the foetus is a reason allowing for an abortion. Should a BRCA mutation be sufficient to allow for an abortion on these grounds? Once again, it does not necessarily transform into an illness – yet it very likely will.
Adoption
If a person with a genetic mutation decides not to procreate due to the risk of passing on the mutation onto their biological child, or for any other reason, they may consider adoption. Depending on the country, there are no or not many health conditions that automatically disqualify one from being an adoptive parent. Nevertheless, the health conditions need to be disclosed and may be taken into account by the competent authority. Should there be an obligation to disclose information related to the genetic mutation? What role should it play during the decision-making process?
Article 16 of the protocol on genetic testing does not offer any clarity here, stating in its Art. 16(1) that “Everyone has the right to respect for his or her private life, in particular to protection of his or her personal data derived from a genetic test.” It does not state any exceptions but probably disclosing such information would fall broadly within the scope of Art. 8 ECHR (respect for private and family life). The exercise of the rights stemming from this article may be limited, inter alia, by the protection of the rights and freedoms of others (Art. 8(2) ECHR). It is unclear how this balancing exercise would be conducted in relation to disclosing information on BRCA mutations in an adoption procedure.
Privacy
The matter of notifying others about the results of the genetic tests opens a wider question. The genetic tests results may be relevant to other family members, who – knowing of the mutation in biologically close family – would become aware of the possibility that they, too, might be carriers. To what extent is it justified to place the obligation on the carrier to inform their family about the test result? This also poses an interference with the carrier’s Art. 8 ECHR rights. Would it be justified by the rights and freedoms of other people, especially given that the risk of having cancer for healthy individuals, while high, remains hypothetical?
There is no law or other guidelines to that end at European level, except for the above-mentioned protocol on genetic testing, which in principle considers the individual patients as “the only subjects of genetic information”. In Germany, for instance, an individual informed of their genetic test result is informed in the same letter that they are under no legal obligation to disclose the results to anybody. At the same time, prior to testing, they are asked to sign an informed consent for the test results to be accessed by the relatives of the first and second grade – which they are free to decline. This shows that the right to privacy is the main value protected and for the time being appears to take precedence over the rights to know of the biological family members. The legal situation is different in France, where there is an obligation to inform other family members who could also be mutation carriers.
Insurance
Learning about carrying the BRCA genetic mutation may also be linked to financial consequences, and lead to the so-called “genetic discrimination”. Insurance providers informed of the genetic mutation might limit the options available or increase the cost of the insurance.
It appears that by virtue of the Genetic Information Nondiscrimination Act 2008 (GINA), the US patients are protected better than their counterparts in Europe. In accordance with GINA, insurance companies may not take into account genetic conditions, including the results of BRCA testing, when conducting risk assessments. As a result, carriers are not at risk of having to pay higher contributions or being denied certain services altogether.
In the EU, according to a 2024 comparative study, only Belgium, Croatia, France and Portugal in their legislation explicitly prohibit discrimination based on genetic features/heritage. In the UK for a long time there was a moratorium in place between the British Insurers Association and the government, in accordance with which the insurers were not to take into account the genetic tests results up to a certain sum of insurance, which allegedly covered 97% of all insurance clients. In 2018, it was replaced by a “Code on Genetic Testing and Insurance”, which however still takes a form of a guidance as opposed to law. In Germany, prior to a genetic test, one has to go to a consultation appointment, where these issues are also discussed. One is discouraged from proceeding with the testing if one plans to take life insurance over 300 000 euros, as from this amount onwards, the insurers may ask about the genetic test results.
There are also fears that in Europe any protection from genetic discrimination may be difficult to legally enact, due to the lack of a legal definition of “genetic data” and its clear distinction from non-genetic data. Some people already decide against undergoing BRCA testing for fear of genetic discrimination from insurers and employers.
Conclusion: need for more legal protection
People who receive a positive BRCA test result in Europe have to navigate their new reality on their own. Depending on which country they live in, they may have access to in vitro fertilisation and then possibly pre-natal diagnostics, or not. They may also decide to adopt instead, but they will never be sure to what extent their genetic mutation will be taken into consideration. Sometimes, they need to balance their interest in getting a test result against their insurance needs. There appears to be a gap in the law, which should be rectified, preferably at European level, so as to offer the BRCA mutation carriers more protection and legal certainty.
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