A Uyghur man sits in a teahouse in China’s Xinjiang province, where government surveillance is intense.
Kevin Frayer/Getty Images
When Yves Moreau, a bioinformatician at KU Leuven in Belgium, noticed a 2017 paper in Human Genetics that described the “male genetic landscape of China” based on a set of almost 38,000 Y-STR sequences, he saw a red flag. Y-STR stands for Y-chromosomal short tandem repeat polymorphism, bits of repetitive DNA often used in forensic investigations. Some of the samples came from Uyghurs and other minorities in China, and Moreau was skeptical that they had given informed consent for the use of their genetic data or understood that China might use it to profile their people. In June 2020, he asked the journal’s editors to retract the “indefensible” paper.
Springer Nature, its publisher, launched an investigation that is still ongoing. So last month, Moreau stepped up the pressure: He wrote to the journal’s entire editorial board to complain about the lack of progress. For Moreau, the paper is just one of many studies, primarily in forensic genetics, that deserve scrutiny because of consent problems in China and the potential for abuse of the data. He says he has flagged about 28 papers at six journals over the past couple of years.
And his campaign is gaining traction. Eight of 25 members of the editorial board of Molecular Genetics & Genomic Medicine, published by Wiley, recently resigned to protest the lack of progress in investigating a number of papers flagged by Moreau, as The Intercept reported last week. A former editor-in-chief of Human Genetics, geneticist Robert Nussbaum, has added his voice to Moreau’s, complaining to the editors that the investigation of the 2017 paper “seems to have been going on a long time.” Springer Nature’s executive editor for medicine and life sciences, Andrea Pillmann, says it is investigating about 50 other papers, 29 of which already have an editor’s note of concern attached to them. The company has put checks in place “to help us to identify potentially concerning submissions in future,” Pillmann says. Meanwhile, the Charité University Hospital in Berlin has come under fire for hosting the genetic database used in several papers under investigation.
Human rights activists welcome Moreau’s efforts. “It is important for journals concerned with research ethics to take into account the state violence that is endemic throughout the Uyghur and Tibetan regions,” says Darren Byler, a sociocultural anthropologist who studies Uyghur issues at Simon Fraser University, Vancouver.
Moreau has long been concerned about threats to privacy posed by the use of genetic data. Forensic use of DNA databases has evolved from a narrowly focused law enforcement tool to a threat to personal privacy, he says. The potential for abuse is, at the moment, most clearly seen in China’s Xinjiang Uyghur Autonomous Region, he adds. Since late 2017, evidence has grown that China is systematically oppressing Uyghur and other Muslim minorities in Xinjiang. Some call the tactics—including mass internment, forced labor, suppression of religion, and efforts to slash birth rates—crimes against humanity. China claims the country is simply “countering violent terrorism and separatism,” as Foreign Minister Wang Yi told the United Nations Human Rights Council in February.
As part of surveillance efforts in Xinjiang, authorities have collected biometric data, including facial scans and fingerprints—used to verify identities at the region’s ubiquitous checkpoints—and DNA data. Moreau says DNA profiling does not directly enable mass internments or forced labor. Rather the impact is psychological, reinforcing citizens’ feelings of constant surveillance. Byler adds that DNA profiling “could be used to enforce a ‘zero illegal births’ policy by tracking maternity and paternity,” and to find matches for organ harvesting from prisoners, “of which there is some limited evidence.”
As authorities have tightened their grip on Xinjiang, Chinese researchers have stepped up research into the region’s culture and genetics, says Huang Futao, a higher education scholar at Hiroshima University. Some of this research is supported by the State Administration for Science, Technology and Industry for National Defense, Huang says, and focuses on topics related to maintaining social safety and stability. The results have often been published in international journals.
Yet, “It can be very difficult to judge the validity of informed consent in China,” says bioethicist Jing-Bao Nie of the University of Otago, Dunedin: “Explicit and especially implicit pressure [to give consent] often exists in various forms.”
Moreau’s efforts have already led to the retraction of two papers by Chinese authors in Springer Nature’s International Journal of Legal Medicine. One, a study of STR haplotypes in Uyghur, Kazakh, and Hui men published online in March 2019, was found to have been “undertaken without the approval of [the authors’] institutional ethics committee,” according to the May retraction notice. A review by the editors found that the second, an evaluation of genetic markers in four different Chinese populations published in April 2019, had ethics approval for the participation of Chinese Han individuals, but not for the Tibetan, Uyghur, and Hui participants. It was retracted in November 2020.
The Human Genetics paper is particularly problematic because of the sheer volume of data and the participation of co-authors from Chinese law enforcement organizations in the study, Moreau says. The paper, co-authored by Chinese and German researchers, states that the study “complies with the ethical principles of the 2000 Helsinki Declaration,” which covers research in humans. But corresponding author Michael Nothnagel of the Cologne Center for Genomics now concedes that some of the data may have been collected in ways “that did not meet relevant ethical standards.” Nothnagel says the authors are working with the editors and Springer Nature to resolve the issue; he did not respond to an email seeking additional details.
The data used in the paper are drawn from the Y chromosome haplotype reference database (YHRD), based at Charité, which includes Y chromosome data from more than 300,000 individuals uploaded by contributors from around the world and is used by researchers and law enforcement agencies. Moreau says there is no way to verify compliance with informed consent standards for the data, which are at least partly anonymized.
In a letter posted on its website on 6 August, Gen-ethical Network, a Berlin-based organization promoting ethical use of genetic technologies, called for an investigation into allegations of YHRD’s “unethical handling of genetic data from minorities.” The letter, co-signed by three other groups, cited not only the issues raised by Moreau about Uyghurs, but also similar problems with genetic research on Roma people in Europe. YHRD managers did not respond to an email from Science seeking comment.
Moreau’s concerns go beyond informed consent. Any research that enables genetic profiling “is harmful in the hands of an authoritarian regime,” he says. And he worries such studies reflect badly on the field: “Public trust in human genetics depends on our community’s ability to transparently abide by its moral duties.”
Nie sees little chance of change on the ground in China, where rising nationalism often eclipses ethical concerns. “I doubt that the issue of informed consent and privacy will be improved in the near future in China,” Nie says. That puts a greater responsibility on international journals, Moreau says.
Source: Science Mag