Concerns have been raised about access to a scientific database containing the genetic and medical records of more than 500,000 people after an investigation found that “race scientists” appeared to claim to have received the data.
A senior scientist has warned that leadership responsible for data held by UK Biobank “needs to be very careful to ensure the right processes are followed” around access to information in order to maintain public trust.
Biobank holds genetic data and medical records of more than 500,000 participants, which it shares anonymously with academics and researchers to support new scientific discoveries and medical advances.
Last week the Guardian reported that a group called the Human Diversity Foundation (HDF), which conducts pseudoscientific research claiming to prove fundamental differences between races, had been secretly filmed discussing UK Biobank data.
Mainstream geneticists regard such research as racist pseudoscience without supporting evidence. The footage was taken by an undercover activist from the anti-racism group Hope Not Hate and shared with journalists.
On the day of the Guardian’s publication, Biobank issued a statement criticizing the report and rejecting the findings. It said it had completed what it called a “thorough” and “extensive” investigation that had found no evidence of misuse of UK Biobank data.
Biobank said it believed the group was discussing access to publicly available statistics summarizing study results, rather than the anonymized data of the volunteers themselves.
However, in correspondence with a senior doctor the following day, which has been seen by the Guardian, Biobank chief executive Prof Sir Rory Collins said his inquiries were continuing.
“Out of an abundance of caution, we are pursuing further investigations to confirm whether or not there has been any misuse of Biobank UK data,” he said. “If we discover that participant-level data has been obtained illegally or that unapproved analyzes have been performed, we will use all available sanctions at our disposal (including legal action).
The comments appeared in opposition to Biobank’s public announcement of the conclusion of its investigation. Asked about the discrepancy, a spokesman said: “There is no contradiction between our statements. We launched an extensive investigation, including a third-party search of the Internet and dark web, and found no evidence that this data was available to unapproved researchers. However, if we received new information, it would allow us to investigate further.”
Biobank’s initial conclusions were based in part on analysis of a portion of the transcript of the undercover footage published by the Guardian. He said technical details in the transcript, such as the file type, cast doubt on the suggestion that participant-level data, which is available only to approved researchers, was obtained.
However, two senior geneticists and two health data experts who reviewed the same transcript said the terms used by HDF researchers in the undercover footage could refer to those who had access to such sensitive data.
David Curtis, a professor of genetics, evolution and the environment at University College London, warned that any suggestion by the group to access sensitive genetic data could affect public confidence not only in the Biobank, but in science in general. He questioned whether Biobank had been too quick to dismiss concerns.
“Perhaps an appropriate response would be that these allegations are concerning and we are looking into it, or that we have asked an outside person to investigate this,” he said. “For them to say we’ve had our data scientist look at it and they think everything’s fine is not good enough.”
Moral and medical questions
Separately, the Hope Not Hate investigation also recorded representatives of a US startup, Heliospect Genomics, describing the Biobank data as a “godsend” that had allowed it to develop a system to predict traits such as IQ, sex and height, as well as the risk of obesity or mental illness, in human embryos.
The company offers to help couples test their embryos as part of IVF treatment and has worked with more than a dozen families, according to the undercover footage. Experts say such practices would raise a host of moral and medical questions.
Biobank’s position on Heliospect’s use of its data changed during the course of the Guardian’s investigations, and there remains a degree of confusion about Biobank’s access policies.
Its spokespeople told the Guardian that Heliospect did not disclose screening embryos for IQ as an intended commercial application. “All researchers, whether academic or commercial, applying to UK Biobank are required to make clear the purpose of their research in their access application and subsequent annual reports,” the spokesperson said.
However, the next day, apparently after receiving new information from Heliospect, Biobank changed its position and issued a new statement. “Heliospect confirmed that its analyzes of our data were only used for their approved purpose of generating genetic risk scores for specific conditions and characteristics, and are exploring the use of their findings for pre-implantation screening in accordance with the regulation relevant in the US where Heliospect is based,” he said.
Heliospect told the Guardian that Biobank did not require companies to disclose the exact commercial applications of the research.
Curtis questioned Biobank’s response. “I think they should have approval processes that are more rigorous,” he said.
Dr Francesca Forzano, chair of the European Society of Human Genetics’ Policy and Ethics Committee, called for stronger security processes around such datasets. She said: “We call on those who legitimately hold genomic datasets to ensure that access procedures are governed by robust and transparent processes, including how decisions are made on whether or not proposed research is in the public interest . Secondary use of the data should be strictly prohibited and the data set should be used only for the original and approved purpose.”