Scientific ethics – “As researchers, we have a duty to intervene”

What is so worth protecting about genetic data?

This depends heavily on the context. In my clinical research, I am more concerned with Western issues of data protection. Patients and their families want to get answers and share their data with us. They want us to find the genetic abnormalities that are causing their disease – or that of their child. However, this information is highly sensitive and can have a stigmatizing dimension because it may contain, for example, statements about mental health. So we can’t just open the data to the whole world and let scientists immerse themselves in the data. A balance must be found between the different needs – the scientific community has recognized this and access to genetic data is reasonably well regulated. This is a classic, let’s say, European data protection perspective.

What other perspective is there?

There are populations around the world who may have greater concerns about how genetic data is used and by whom and for what purposes. Here in Europe, for example, the Roma. This is a community that is historically and currently stigmatized and discriminated against, and is the subject of many genetic studies. On the one hand, researchers want to understand the migration history of the Roma. On the other hand, Roma are often studied in human genetic studies because certain genetic diseases are more common in some communities than in the rest of the population. They therefore represent a productive research object for scientists. At the same time, European science – and Western science in general – benefits from studying communities that in many places do not have access to basic health care. So questions about justice arise.

What would you consider a problematic use of genetic data?

As a member of the human genetics community, my long-term concern is that part of this field is working to create maps of human genetic diversity. Researchers want to know how people differ genetically around the world and throughout history. I have done a lot of research on Uyghurs in China. For example, the following is examined: What distinguishes this group from the Han Chinese and populations in Central Asia or Siberia? Geneticists display the knowledge they have gained on maps, for example regarding the spread of hereditary diseases. I feel like there is no awareness that this is dangerous because maps are political objects. When you start drawing accurate maps, someone always starts drawing boundaries. If we want this research, we must accept that we have a responsibility to society. If we observe that the data is being exploited in a very stigmatizing and discriminatory way, then we as scientists have a duty to intervene.

Do you think there is research that simply shouldn’t be done?

I am a scientist, for me knowledge is an end in itself. But my view on this has changed in recent years. Previously, like most scientists, I would have been of the opinion that knowledge comes first and that society has to deal with the problems that arise from research. Today, I would make exceptions when I feel like this isn’t possible – like when I look at research on genetic diversity in China. Tibetans who live at an altitude of 4,000 meters are physiologically adapted to the altitude. These adaptations are also reflected in certain gene variants. This leads to fascinating research questions from a biological and medical perspective. People with the corresponding gene variant can metabolize oxygen more efficiently. There are many diseases for which this knowledge could potentially be used therapeutically. However, understanding these genetic differences is extremely political in terms of controlling the Tibetan Plateau. Since it is a corridor of China on the border with India, the Chinese authorities are keen to control it. They settle Han Chinese there and send the military to monitor the border. But some people experience serious medical complications from spending long periods of time at this altitude. In genetic specialist articles from China you can sometimes find very clear statements about what the generated knowledge could be used for: to select Han settlers or soldiers based on genetic markers so that fewer of them have problems living in Tibet life. Knowledge of these genetic markers therefore has direct policy implications in today’s world. This also raises the question for Western scientists as to how much we should cooperate within this research field.

Why are ethical guidelines so often not followed when it comes to research with ethnic minorities in China, for example?

We are dealing with a serious system failure. It’s particularly frustrating because all scientists who deal with data from patients around the world, for example, have to overcome a lot of bureaucratic hurdles to do so. These processes are very complicated and eat up a lot of expensive working time. But when you look at research on oppressed Chinese populations like the Uyghurs, you see that these processes are systematically failing. So they don’t work exactly where they are needed most. In Xinjiang, people are arbitrarily interned in camps for months or years, used for forced labor or simply disappear. Women are forcibly sterilized and forced to have abortions. Children were taken away from their families and sent to boarding schools so that their ethnicity would be erased. And then you realize that there is a whole field of research that studies these population groups very intensively – partly in collaboration with Western researchers. It is also about research with direct relevance to the use of very specific technologies as an instrument of social control. We are not just talking about basic research to gain an understanding of genetic diversity. We’re talking about developing and validating technology for police use. Around half of the affected specialist articles have co-authors who work for the Chinese police. So it is very surprising that Western journals publish this kind of research. Before 2017, there was no intensive reporting on the situation of the Uyghurs. But Europeans and Americans have known about the oppression of Tibetans for a long time.

How do such studies come to be published in renowned journals?

Overall, there is little awareness that academic publishers are large international companies that generate billions in sales. When systemic problems in the publishing system are pointed out, there is of course a certain reluctance to jeopardize the companies’ commercial purposes. Especially with regard to problematic research from China – the country is currently the largest emerging market for Western publishers. So, in my opinion, publishers’ behavior is mainly profit-oriented and many decisions, even when it comes to ethical standards, seem to be subordinate to business interests.

Do you see a change in the scientific community as a result of your involvement?

When articles are retracted, it is also a strong signal to the scientific community, both in forensic genetics and within human genetics. The relationship between these sub-disciplines is very interesting. Forensic genetics is a branch of human genetics that focuses on how to use human genetic knowledge to identify people and solve crimes. Human clinical genetics, in turn, has an enormous need for public trust. My impression is that while most forensic genetics is closed to criticism, there is actually an understanding in human genetics that these types of unethical practices pose a threat to the necessary public trust in medical genetic research. Therefore, the professional societies for human genetics and clinical genetics are much more willing to deal with these problems. I am pleased to see that there are actually scientists who, despite all the limitations of their knowledge – we are not social scientists and are very naive in many ways – are willing to deal with these problems.

Isabelle Bartram and Janina Johannsen are employees of the Gene-ethical Network eV.