Tag: genomic surveillance

‘Errant’ Human DNA can be Found Everywhere, Posing an Ethical Dilemma

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Researchers report in Nature Ecology and Evolution that human DNA traces can be found nearly everywhere, short of isolated islands and remote mountaintops. That ubiquity is both a scientific boon and an ethical dilemma, say the University of Florida researchers who sequenced this ‘errant’ DNA. The DNA was of such high quality that the scientists could identify mutations associated with disease and determine the genetic ancestry of nearby populations. They could even match genetic information to individual participants who had volunteered to have their errant DNA recovered.

David Duffy, the UF professor of wildlife disease genomics who led the project, says that ethically handled environmental DNA samples could benefit fields from medicine and environmental science to archaeology and criminal forensics. For example, researchers could track cancer mutations from wastewater or spot undiscovered archaeological sites by checking for hidden human DNA. Or detectives could identify suspects from the DNA floating in the air of a crime scene.

But this level of personal information must be handled extremely carefully. Now, scientists and regulators must grapple with the ethical dilemmas inherent in accidentally — or intentionally — sweeping up human genetic information, not from blood samples but from a scoop of sand, a vial of water or a person’s breath.

The paper by Duffy’s group outlines the relative ease of collecting human DNA nearly everywhere they looked.

“We’ve been consistently surprised throughout this project at how much human DNA we find and the quality of that DNA,” Duffy said. “In most cases the quality is almost equivalent to if you took a sample from a person.”

Because of the ability to potentially identify individuals, the researchers say that ethical guardrails are necessary for this kind of research. The study was conducted with approval from the institutional review board of UF, which ensures that ethical guidelines are adhered to during research studies.

“It’s standard in science to make these sequences publicly available. But that also means if you don’t screen out human information, anyone can come along and harvest this information,” Duffy said. “That raises issues around consent. Do you need to get consent to take those samples? Or institute some controls to remove human information?”

Duffy’s team at UF’s Whitney Laboratory for Marine Bioscience and Sea Turtle Hospital has successfully used environmental DNA, or eDNA, to study endangered sea turtles and the viral cancers they are susceptible to. They’ve plucked useful DNA out of turtle tracks in the sand, greatly accelerating their research program.

The scientists knew that human eDNA would end up in their turtle samples and probably many other places they looked. With modern genetic sequencing technology, it’s now straightforward to sequence the DNA of every organism in an environmental sample. The questions were how much human DNA there would be and whether it was intact enough to harbor useful information.

The team found quality human DNA in the ocean and rivers surrounding the Whitney Lab, both near town and far from human settlement, as well as in sand from isolated beaches. In a test facilitated by the National Park Service, the researchers traveled to part of a remote island never visited by people. It was free of human DNA, as expected. But they were able to retrieve DNA from voluntary participants’ footprints in the sand and could sequence parts of their genomes, with permission from the anonymous participants.

Duffy also tested the technique in his native Ireland. Tracing along a river that winds through town on its way to the ocean, Duffy found human DNA everywhere but the remote mountain stream where the river starts, far from civilization.

The scientists also collected room air samples from a veterinary hospital. They recovered DNA matching the staff, the animal patient and common animal viruses.

Now that it’s clear human eDNA can be readily sampled, Duffy says it’s time for policymakers and scientific communities to take issues around consent and privacy seriously and balance them against the possible benefits of studying this errant DNA.

“Any time we make a technological advance, there are beneficial things that the technology can be used for and concerning things that the technology can be used for. It’s no different here,” Duffy said. “These are issues we are trying to raise early so policy makers and society have time to develop regulations.”

Source: University of Florida

Scientists Retract Controversial Omicron Origins Article

On December 1, Charité — Universitätsmedizin Berlin reported new findings on the origins of the SARS-CoV-2 variant Omicron, one of which was a “stepwise” emergence of the variant across Africa rather than the accepted scenario of it emerging in a single area around South Africa.

In light of new findings of contaminated samples used in the research, the team led by Prof Jan Felix Drexler has now retracted the article, which was published in the journal Science.

The new findings mean that some of the article’s statements are no longer provable beyond reasonable doubt, and the authors retracted their article in line with sound scientific procedure.

In the article entitled “Gradual emergence followed by exponential spread of the SARS-CoV-2 Omicron variant in Africa”, researchers came to the conclusion that the Omicron variant of SARS-CoV-2 emerged in western Africa a few months prior its eventual discovery in South Africa in early November. Shortly after the article was published, other scientists, such as SA’s Dr Tulio de Oliveira, called into question the plausibility of the genome sequences analysed in the study. Subsequent analysis of residual samples found evidence of contamination, the source of which can no longer be traced.

One of the article’s messages — that viruses with Omicron sequence signatures existed across the continent before Omicron was officially detected in South Africa — is based on collective data from PCR analysis done independently by laboratories in several African countries. However, the conclusive reconstruction of the virus’s evolution, another of the article’s key messages, is likely to be affected by sequence contamination not detected before analysis.

The contamination also makes it impossible to correct the analyses retrospectively in due time, because this would require additional analyses of thousands of patient samples from Africa that may not be available in sufficient quantity and quality. Therefore, in agreement with all the authors, the entire article is being retracted. The research group that ran the project is currently carrying out an evaluation and review of the analyses.

Prof Drexler and his team expressed regret for the incident and gratitude to their international colleagues for flagging the potential problems following the article’s publication.

Source: Charité – Universitätsmedizin Berlin

‘Stepwise Emergence’ Scenario of Omicron in Africa Challenged

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A widely reported study published in Science that presented evidence for a distributed, ‘stepwise’ origin for Omicron across the African continent has drawn criticism from a number of prominent scientists.

Dr Tulio Oliveira, the director of CERI (Centre for Epidemic Response & innovation) and KRISP (KZN Research Innovation & Sequencing Platform) was one of these scientists expressing their doubts over Twitter.

Dr Oliveira tweeted that, like many other scientists, he was sceptical of the Science paper’s narrative of a stepwise emergence of Omicron in Africa.

“First, the ‘fishing’ of intermediates in Africa should also have been performed in Europe and the USA, which were the regions of the world that introduced the majority of Omicron lineages to Africa -“

He also questioned the accuracy of their results due to possible contamination, and also the strength of their analyses, noting that phylogenetic analyses are weak.

For his fourth point, he says that “the Benin sequences could be recombinants of Delta and Omicron, real recombination, or recombination through contamination of the sequencing process.” He was unable to check for the prevalence of mutations.

He also makes a very simple observation regarding the timing of waves: if Omicron arose first in West Africa, why then did South Africa experience the Omicron wave before them?

The paper was also not presented as a preprint to allow for the research community to give feedback and improved the manuscript, a criticism echoed by biologist and physicist Richard Neher.

“Lastly, the results presented do not reject any of the three hypotheses of Omicron evolution (i.e. unsampled location, immune suppressed individual, animal reservoir).”

Nevertheless, he says that “I have many colleagues and collaborators in this paper and would like to recognize that the allele qPCR system to identify BA.1 is a great tool. Also that their mutation analyses are also good.”

New BA.2 ‘Stealth’ Omicron Variant Discovered

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Scientists have reported identifying a ‘stealth’ version of Omicron that cannot be distinguished from other variants based on standard PCR tests.

The so-called stealth variant has a number of mutations in common with standard Omicron, but it lacks the key genetic change that makes it stand out in PCR tests. This means probable cases are not flagged by routine PCR tests, even though genomic testing can identify it as the Omicron variant.

This distinctive marker had been one of the fortunate features of the new variant, as Tulio de Oliveira, director of the Centre for Epidemic Response and Innovation in South Africa, had explained: “We can detect [Omicron] very quickly, and this will help us to track and understand the spread.”

It is still too early to know whether the new form of Omicron will spread in the same way as the standard Omicron variant, researchers say. However the ‘stealth’ version is genetically distinct and so may behave differently.

The stealth variant was first spotted among recently submitted COVID virus genomes from South Africa, Australia and Canada, but it may already have spread more widely. So far it has been detected in seven individuals.

As a result of this new variant, researchers have split the B.1.1.529 lineage into standard Omicron (BA.1) and the newer variant (BA.2).

“There are two lineages within Omicron, BA.1 and BA.2, that are quite differentiated genetically,” said Professor Francois Balloux, director of the University College London Genetics Institute. “The two lineages may behave differently.”

Whole genome analysis confirms which variant has caused a COVID infection, but PCR tests can sometimes give an indication. About half of the UK’s PCR machines search for three genes in the virus, but Omicron only tests positive for two. This is because Omicron has a deletion in the “S” or spike gene, similar to Alpha before it. This glitch means PCR tests displaying so-called “S gene target failure” strongly suggest Omicron infection.

Informally, some researchers are calling the new variant “stealth Omicron” because it lacks the deletion that allows PCR tests to spot it.

One major unknown is how the new variant emerged. While it falls under Omicron, it is so genetically distinct that it may qualify as a new “variant of concern” if it spreads rapidly. Having two variants arise in quick succession with shared mutations is “worrying” according to one researcher, and suggests public health surveillance “is missing a big piece of the puzzle”.

Source: The Guardian