Prof. Dr. Jochen Taupitz is a member of the Scientific and Ethical Advisory Board of the German Biobank Node (GBN) and the German Biobank Alliance (GBA). As a lawyer specialising in medical law and medical ethics, he has been a professor at the Faculty of Law at the University of Mannheim since 1989. Up until 2016, Taupitz was Vice-Chairman of the German Ethics Council. We spoke with him about the challenges involved in disclosing “incidental findings” from medical research – a topic that he discussed from a legal perspective at the GBN workshop held on 3 May 2018 entitled “Meine Gene gehören mir! Nutzung genomischer Daten von Probanden und Patienten” [“My genes are mine! The use of genomic data from probands and patients”].
Mr. Taupitz, how would you define “incidental diagnostic findings” in medical research?
Jochen Taupitz: They are findings from university research, for instance, which are collected by chance and do not relate to the actual line of research pursued. Such incidental diagnostic findings will become more frequent in the future, as entire genomic analysis procedures and imaging methods such as full-body MRIs continue to evolve. However, the term “diagnostic findings” should be used with caution, as it refers to medically relevant phenomena, changes or conditions. With many incidental findings, it is not at all clear whether they are medically relevant.
Why can’t those concerned simply be notified of incidental findings of actual genuine medical relevance?
Taupitz: From an ethical perspective, it is about the balancing act between the principle of care and the principle of ‘do no harm’. On the one hand, the according knowledge could enable the individual to undergo treatment or preventive measures, which could be of considerable benefit. On the other, this knowledge may also put a great strain on them. From a legal perspective, it is about the right to informational self-determination. For the individual concerned, this means both the right to know and the right not to know the facts discovered.
What does the Genetic Diagnostics Act regulate?
Taupitz: The Genetic Diagnostics Act relates to medical care and stipulates that a patient must be informed of what the outcome might be prior to a genetic examination. Genetic diagnostics are not performed until the patient has given their consent. The law also stipulates that a physician must advise the patient in the event of anomalies. The Genetic Diagnostics Act therefore relates to the notifications that the patient receives and serves to reinforce their right to self-determination.
Can the Genetic Diagnostics Act be applied to medical research?
Taupitz: The law does not apply to genetic investigations conducted for research purposes. After all, it is not expected that anything of medical relevance to individuals will emerge here. Nevertheless, it does happen that a researcher discovers a gene mutation by chance, for example, for which treatment might be possible. If the individual concerned is informed of the findings, they leave the “research area” and become subject to the provisions of the Genetic Diagnostics Act. However, the law does not obligate scientists to inform patients of their findings.
Is it in the interest of researchers and biobanks to disclose incidental findings to the individuals concerned?
Taupitz: No, quite the contrary. For further, cost-intensive investigations are often then required – by human geneticists or radiologists, for example. It is for this reason that many researchers and biobanks rule this out in the first place. They agree with the probands or patients that they will not share individual findings – even if they might be of medical relevance to individuals. From a legal perspective, this is perfectly in order.
What exactly is the “right not to know”?
Taupitz: The “right not to know” means that findings may not be forced on the individual concerned. However, the main practical problem here is that you cannot simply assume that an individual does not want to be informed of the findings. In order to be able to exercise their right not to know, the individual concerned must have at least a rough idea of what it is that they do not want to know. And imparting this knowledge can already constitute a violation of their right not to know.
It all sounds very complicated – having to know today what you don’t want to know in the future!
Taupitz: Indeed. In principle, a proband or patient should be informed of findings that are of considerable importance to them or genetic relatives. This is particularly the case for serious diseases that can be treated or even prevented. It gets more difficult when it comes to untreatable diseases, such as Huntington’s chorea. This disease manifests itself at around the age of 45 to 50 and there is nothing we can do about it. It is not easy to answer the question of whether the individual concerned will want to know about this or not. Which is why it is so important to agree before donating biomaterials if and which possible findings should be disclosed.
Are there legal requirements for such declarations of consent?
Taupitz: No, there aren’t. Hence the Permanent Working Party of the German Medical Ehtics Committees has prepared templates, which are available to the biobanks, for example.
Biobanks prefer to work with “broad consent”. How is the “right not to know” taken into account in this type of declaration of consent?
Taupitz: When a proband or patient grants “broad consent”, scientists are permitted to use the donated biomaterials to carry out a whole range of research projects. The right not to know is only affected by broad consent indirectly. For the more research areas are allowed, the more incidental findings may arise. This is another reason why it is particularly important to agree with the proband or patient what should and should not be disclosed.
The interview was conducted by Verena Huth.
Download the “Template for informed consent concerning the donation, storage, and utilization of biological materials as well as collecting, processing, and usage of (related) data in biobanks” drafted by the Permanent Working Party of Research Ethics Committees in Germany.