Questions about consent and potential for abuse trigger retractions and investigations

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.