Published in “Nature Genetics,” the global study finds a strong link between FOXP4 expression and long COVID, offering new hope for diagnostic development.
A global study has uncovered genetic variants linked to an increased risk of long COVID, marking an important step toward understanding the biology of the condition and laying early groundwork for future diagnostic tools.
The recent study, “Genome-wide association study of long COVID,” is published in Nature Genetics, and it identified a significant genetic association between long COVID and variants in the FOXP4 gene, which is known to influence lung function. Higher levels of FOXP4 expression were found in individuals with long COVID, and the risk associated with these variants was consistent across different ancestry groups. This supports the idea that lung-related immune responses play a major role in long COVID, though the condition also involves a wide range of symptoms such as fatigue and cognitive dysfunction.
Future Diagnostic Advancements
For laboratory professionals, the findings from this large-scale genetic study on long COVID represent an important step toward future diagnostic innovation grounded in molecular evidence. While the identified FOXP4 variants and associated immune-lung pathways are not yet predictive at the individual level, they offer valuable insight into the underlying biology of long COVID—insight that can inform the development of biomarker assays and future diagnostic tools. As research advances, lab teams will be essential in validating and implementing potential biomarkers, integrating genetic and proteomic data into routine workflows, and supporting interdisciplinary efforts to transition these discoveries from bench to bedside. Though clinically actionable tests may still be years away, the study underscores the evolving role of the clinical lab in decoding complex, post-viral syndromes through precision diagnostics and collaborative research.
Conducted by the Long COVID Host Genetics Initiative, the study analyzed data from 33 independent studies across 19 countries, involving nearly 16,000 individuals diagnosed with long COVID and about 1.9 million control participants. The research included diverse populations across six genetic ancestries, making it one of the most comprehensive efforts to date using a genome-wide association study (GWAS) approach.
Today’s Clinical Lab reported in 2024 that “As early as spring 2020, people who had survived COVID-19 began publicly sharing their ongoing symptoms and struggles to recover. Originally driven almost entirely by patients, researchers and clinicians eventually responded to the push to investigate these reports, ultimately publishing a study showing that only one in eight participants were symptom-free two months after infection. From that point, research into the post-viral condition, popularly termed ‘long COVID,’ accelerated—from 105 articles published on the topic in 2020 to nearly 5,000 in 2023.”
Studies Continue
In addition to identifying genetic risk factors, the researchers established a causal link between SARS-CoV-2 infection and the development of long COVID, particularly in cases involving severe illness that required hospitalization. The study also explored the overlap between long COVID-associated variants and those related to other diseases, suggesting that both genetic predisposition and environmental factors contribute to the risk of developing long COVID.
Hanna Ollila, PhD, a co-author of the study from the Institute for Molecular Medicine Finland and Massachusetts General Hospital, said, “The findings from our study, and from genome-wide association studies in general, tell about biological mechanisms behind a disease. This can then help to understand the disease better. For example, is it a disease neuronal, immune, metabolic, and so on?”
She also explained that developing a diagnostic test from these findings will take time, as the genetic variants identified don’t have the strong, direct impact seen in mutations like BRCA in breast cancer.
“In other words, they do not strongly predict whether someone will develop long COVID at the individual level. Instead, they highlight the biological systems involved in the disease. In this case, our findings point to immune pathways related to lung function,” Ollila noted.
The researchers reported that as larger sample sizes become available in future studies, the accuracy and depth of genetic analyses will improve. This could help scientists more clearly define the biological underpinnings of long COVID and identify specific biomarkers for diagnosis. Despite the progress made, Ollila commented it could still take a decade or more to develop clinically useful diagnostic tools based on these genetic insights.
Researchers expect their test to reduce diagnostic time in clinical settings and help identify carriers of the diseases
Clinical laboratories have always been at the forefront of helping families battle rare diseases. But such testing is sometimes invasive and expensive. Now there’s a new blood test that is minimally invasive and rapidly detects thousands of rare genetic diseases in infants and children using a mere 1ml of blood.
Developed at the University of Melbourne and Murdoch Children’s Research Institute in Australia, the test rapidly detects abnormalities using proteomics to simultaneously analyze the pathogenicity of thousands of gene mutations that cause rare genetic illnesses.
The single-drop blood test sequences proteins present in the genes rather than the genes themselves to discover how genetic changes within those proteins affect function and lead to disease. According to the scientists, the test is cost-effective, potentially eradicates the need for other functional tests, and may be applicable to thousands of different diseases. Results of the test are typically available within three days, providing patients with earlier access to any available treatments.
“A recent study carried out in collaboration with the Melbourne School of Population and Global Health revealed that implementing our test in a clinical setting would have a similar cost to that of the current test used to diagnose rare mitochondrial disease, with the advantage that our test can potentially diagnose thousands of other diseases,” said the study’s co-author, Daniella Hock, PhD, a research fellow in clinical proteomics in the department of biochemistry and pharmacology at the University of Melbourne, in a news release.
“Our new test can identify more than 8,000 proteins in peripheral blood mononuclear cells covering more than 50% of known Mendelian and mitochondrial disease genes, as well as enable us to discover new disease genes,” said Daniella Hock, PhD, research fellow in clinical proteomics, department of biochemistry and pharmacology at the University of Melbourne, in the news release. (Photo copyright: Mito Foundation.)
Identifying Disease Carriers
The researchers also performed blood analysis on the parents to help identify the carriers of genetic illnesses and possibly develop reproductive methods to avoid the occurrence of those diseases in future pregnancies.
“When the test is also performed on blood samples from parents we call it trio analysis. In recessively inherited conditions, this helps considerably in differentiating between carriers, who only have one copy of the defective gene, and the affected individual, who carries two copies,” Hock said. “Moreover, the use of familial samples for trio analysis greatly improves the differentiation between carrier and affected individuals with higher confidence, and that has exceeded our initial expectations. We believe that the use of this test in clinical practice will bring considerable benefits to patients, their families, and healthcare systems by reducing the diagnostic time.”
Getting the Right Diagnosis
There are more than 7,000 types of categorized rare diseases which affect approximately 300 to 400 million people worldwide. These diseases are caused by genetic mutations that exist in more than 5,000 known genes. The new test focuses on rare genetic illnesses known as monogenetic disorders, such as cystic fibrosis and mitochondrial disease, that are caused by a single gene alteration or mutation.
According to the National Organization for Rare Disorders, 25 to 30 million Americans are living with a rare disorder. A condition is categorized as rare if it affects less than 200,000 individuals.
Global Genes states on its website that 400 million people worldwide suffer from a rare disease and half of those diagnosed are children. It also states that 80% of those diseases are genetic and 95% of rare diseases lack a treatment approved by the US Food and Drug Administration.
“One of the hardest things for patients with rare diseases is getting the right diagnosis,” said Sharon Barr, PhD, executive vice-president of biopharmaceuticals research and development at AstraZeneca Rare Disease, in an interview with STAT News.
On average, it takes about five years to accurately diagnose a rare disease patient. During that period, that patient sees various specialists, undergoes difficult tests, and potentially faces the wrong diagnosis, Barr said.
Initial results stemming from the new clinical laboratory test are encouraging, but more research and clinical trials are needed before the test can be used on a widespread level.
Ten children have already been diagnosed with cancer; 13 others carry gene requiring lifelong testing
Shocking news about a single sperm donor’s shared gene mutation has shed light on shortfalls in preventative clinical laboratory genetic screening.
The otherwise-healthy donor’s sperm has already led to various cancer diagnoses for 10 of the children he fathered, including Hodgkin lymphoma and brain tumors, CNN reported.
“Unlike in some cases of serial sperm donors, such as a Dutch man who was ordered to stop donating sperm after being found to have fathered between 500 and 600 children around the world, this man only donated to a single private sperm bank in Denmark named the European Sperm Bank,” CNN reported.
Though it may be an anomaly, this occurrence has generated calls for increased regulation on the use of donated sperm.
“At the heart of the problem seems to lie the regulation, or maybe the lack of regulation, of the number of births by a single donor,” said Edwige Kasper, PhD, oncogenetic biologist at Rouen University Hospital in France, at the annual conference of the European Society of Human Genetics in Milan, Italy, CNN reported. (Photo copyright: LinkedIn.)
Limits to Genetic Screening
“Preventative genetic screening is reaching its limits here,” Julie Paulli Budtz, vice-president of corporate communications at the European Sperm Bank, told CNN. Budtz noted that in this case, the donor was tested even above traditional standards.
“Every human being has about 20,000 genes, and it is scientifically simply not possible to detect disease-causing mutations in a person’s gene pool if you don’t know what you are looking for,” she told CNN.
At least in this situation, the need for improvement is evident and will likely inspire continued research and development in the genetic testing capabilities.
“The fact that the case in point is very rare does not mean that it will not reoccur,” Kasper noted in the ESHG press release.
Calls for Increased Regulation of Sperm Donations
At the European Society of Human Genetics (ESHG) annual conference in May, Edwige Kasper, PhD, an oncogenetic biologist and specialist in genetic predisposition to cancer at Rouen University Hospital in France, explained how one European man’s sperm donations spanning from 2008-2015 resulted in the birth of 67 children, 23 of whom have already been impacted by his cancer-causing genetic mutation, CNN reported.
“We need proper regulation at European level to try to prevent it happening again, and to implement measures to ensure a worldwide limit on the number of offspring conceived from the same donor,” she noted.
ESHG’s press release describes Li-Fraumeni as “one of the most severe inherited predispositions to cancer that is characterized by a broad spectrum of tumors at an early age.”
Additional Case Details
In addition to the 10 children with cancer diagnoses, another 13 he fathered are currently cancer-free but carry the gene, which now subjects them to invasive life-long testing including whole-body MRI scans to clinical exams and scans of the brain, breast, and abdomen, CNN noted.
“[The procedure is] heavy and stressful for carriers, but we have seen its effectiveness in that it has enabled early detection of tumors and thus improved patients’ chances of survival,” Kasper said in the ESHG press release.
The offspring of these 10 children will have a 50% greater chance of receiving the gene as well, CNN added.
Clinical laboratory genetic testing labs and telemedicine groups among those charged
In the largest healthcare fraud bust in US history, the US Department of Justice (DOJ) announced it had levied criminal charges against 324 defendants for allegedly participating in various fraudulent healthcare schemes—including clinical laboratory genetic testing and telemedicine fraud—totaling over $14.6 billion in losses.
A DOJ press release states the agency’s 2025 National Health Care Fraud Takedown represents an unprecedented effort to alleviate fraud in healthcare that exploits patients and taxpayers.
The defendants include 96 doctors, nurse practitioners, pharmacists, and other licensed medical professionals. The cases are being prosecuted by Health Care Fraud Strike Force teams from the Criminal Division’s Fraud Section, 50 US Attorneys’ Offices, and 12 State Attorneys’ General Offices.
“This record-setting Health Care Fraud Takedown delivers justice to criminal actors who prey upon our most vulnerable citizens and steal from hardworking American taxpayers,” said Attorney General Pam Bondi in the press release. (Photo copyright: US Department of Justice.)
49 Clinical Lab Defendants Charged
The takedown relied on coordinated investigations from several agencies, including the:
Health Care Fraud Unit of the DOJ Criminal Division’s Fraud Section,
Department of Health and Human Services Office of Inspector General,
Federal Bureau of Investigation,
Drug Enforcement Administration, and,
Multiple US Attorneys’ Offices.
Clinical laboratory testing fraud was addressed in the takedown. Forty-nine defendants were charged with telemedicine and genetic testing fraud schemes where deceptive telemarketing campaigns targeted Medicare beneficiaries, resulting in $46 million in fraudulent claims being submitted to Medicare for durable medical equipment (DME), genetic tests, and COVID-19 tests.
“Make no mistake—this administration will not tolerate criminals who line their pockets with taxpayer dollars while endangering the health and safety of our communities,” said Attorney General Pam Bondi in the press release.
Other High-Profile Cases
The most prominent cases include a $10 billion urinary catheter scheme where foreign straw owners secretly purchased medical supply companies and then used stolen identities and personal health data of more than one million Americans to file erroneous Medicare claims. Known as Operation Gold Rush, the hoax resulted in the arrests of nineteen defendants, including four in Estonia and seven individuals attempting to avoid capture at US airports and at the Mexican border.
In another case involving foreign influence, owners and executives in Pakistan were charged in connection with a $703 million scheme where artificial intelligence (AI) was allegedly used to create fake recordings of Medicare recipients consenting to receive various products. The data was then sold to clinical laboratories and DME companies to fraudulently submit false claims to Medicare. In addition, some of these defendants allegedly conspired to conceal and launder proceeds from US bank accounts to overseas bank accounts.
Also, a defendant who owned a billing company allegedly planned a sham in which Arizona Medicaid was fraudulently billed $650 million for addiction treatment programs where services were never rendered or patients received substandard care. The defendant, who is based in Pakistan and the United Arab Emirates, supposedly received at least $25 million from the scheme and is also charged with a money laundering offense.
“It’s not done by small time operators,” said Mehmet Oz, MD, who leads the Centers for Medicare and Medicaid Services (CMS). “These are organized syndicates who are designing to hurt America.”
Other notable cases include a scam involving $1.1 billion in fraudulent claims for unnecessary amniotic wound allografts for elderly patients resulting in defendants receiving millions in illegal kickbacks. In another scheme, 74 defendants were charged with the illegal distribution of prescription opioids and other controlled substances.
DOJ Property Seizures
As a result of the fraud bust, the US government seized over $245 million in cash, luxury vehicles, cryptocurrency, and other assets and prevented an additional $4 billion from being paid out by CMS due to false and fraudulent claims.
“These criminals didn’t just steal someone else’s money. They stole from you,” Matthew Galeotti, JD, who leads the DOJ Criminal Division, told the Associated Press. “Every fraudulent claim, every fake billing, every kickback scheme represents money taken directly from the pockets of American taxpayers who fund these essential programs through their hard work and sacrifice.”
This latest bust demonstrates the DOJ’s increased resolve to pursue healthcare fraud, including cases involving clinical laboratory testing. Look for further coverage of this aspect in the 7-14-2025 issue of The Dark Report.
Genetic test that analyzes DNA to identify men at greatest risk for developing the disease could become common clinical laboratory screen for cancer
Researchers in the UK believe a common spit test can be more accurate at determining which men are more likely to develop prostate cancer than the clinical laboratory prostate-specific antigen (PSA) blood test currently used by the National Health Service (NHS) for that diagnosis.
During a recent study, scientists at the Institute of Cancer Research, London (ICR), found that germline DNA extracted from saliva, which was then used to derive polygenic risk scores for cancer, resulted in a higher percentage of participants “found to have clinically significant disease” than the percentage that would have been identified with the use of PSA or MRI.
The salvia test works by analyzing men’s DNA to find out if they are genetically pre-disposed to developing the disease. Men who find out they are likely to develop prostate cancer can then pursue further testing and scans.
“The test assesses 130 genetic variants to provide a risk score for prostate cancer, which is the second most common cause of cancer deaths in men in the UK,” The Guardian reported.
The study found that 187 of the men in the study had prostate cancer. According to the American Cancer Society, one in eight men will be diagnosed with prostate cancer in their lifetime.
“We can identify men at risk of aggressive cancers who need further tests and spare the men who are at lower risk from unnecessary treatments,” said study leader Rosalind Eeles, PhD, of the ICR London, in The Guardian.
“With this test, it could be possible to turn the tide on prostate cancer,” Rosalind Eeles, PhD, of the Institute of Cancer Research, London, told the BBC. (Photo copyright: Prostate Cancer UK.)
Landmark Discovery
Michael Inouye, PhD, professor of systems genomics and population health at the University of Cambridge, told the BBC that researchers will look back on this study “as a landmark.” He also acknowledged that it would be a long road before widespread implementation of the test.
While some sources call the ICR’s test promising, they also acknowledge it may only have a modest effect and that there may be possible racial disparities in the findings. The study was primarily based on people with European ancestry. According to Prostate Cancer UK, black men in the UK have double the risk of developing the disease. A similar trend can be observed in the US, Statistica reported.
Dusko Ilic, PhD, professor in stem cell sciences at King’s College London, told the BBC that there was “no direct evidence” of these findings having an effect on survival or quality of life. He stressed the need for more studies to better assess the value of the test.
The salvia test is expected to be included in Prostate Cancer UK’s TRANSFORM trial, a $58 million research program partly funded by the NHS to determine the best way to screen for cancer in the UK.
Effect on Clinical Pathologists
Prostate cancer is expected to surge in the US over the next 15 years, according to UC Davis Health. Thus, pathologists should expect more men to seek ways to assess their risk. Pathologists would be wise to educate themselves fully on new and emerging tests and tools to best meet the needs of their patients.
Given the publicity generated by former President Biden’s announcement that he has an advanced case of prostate cancer, clinical laboratories should also expect more patients to request diagnostic tests that either screen for or confirm the presence of the disease.
All of 23andMe’s employees in the acquired business units will retain their jobs
One of the most consequential acquisitions in the clinical laboratory genetic testing industry is about to take place.
On May 19, Regeneron Pharmaceuticals, Inc. announced it had entered into a purchasing agreement to acquire most of the assets of 23andMe for $256 million. The acquisition, which is contingent on bankruptcy court and regulatory approvals, is expected to close during the third quarter of this year.
Once viewed as a flourishing company in the home genetics testing arena, 23andMe filed for bankruptcy in March in the Eastern District of Missouri. The latest transaction will allow Regeneron to acquire 23andMe’s Personal Genetic Service (PGS), Total Health Service and Research Service business lines, as well as its Biobank and associated assets.
The purchase will not include 23andMe’s Lemonaid Health telehealth business, which will cease operations.
“Regeneron was one of the first biotech companies to bet its future on the power of DNA, fueling our drug discovery efforts so as to deliver some of the world’s leading and most innovative medicines,” said George Yancopoulos, MD, PhD, Regeneron’s co-founder, president, and chief scientific officer in a news release.
“We believe we can help 23andMe deliver and build upon its mission to help those interested in learning about their own DNA and how to improve their personal health, while furthering Regeneron’s efforts to use large-scale genetics research to improve the way society treats and prevents illness overall,” said George Yancopoulos, MD, PhD, co-founder, president and chief scientific officer of Regeneron in a news release. (Photo copyright: New York Medical College.)
Weakening Demand, Data Breach Led to Bankruptcy
Since its founding in 2006, 23andMe has collected genetic data from more than 15 million consumers via its home DNA testing kits. It was the first company to offer autosomal DNA testing to obtain ancestry data.
Its direct-to-consumer, saliva-based genetics testing business soon gained much popularity. In 2008, Time Magazine named its Personal Genome Service “Invention of the Year.”
At its peak, the company was valued at approximately $6 billion. In its bankruptcy filing, 23andMe contended it had $277.42 million in assets and $214.7 million in outstanding debts.
Lately, 23andMe has been struggling due to a weakening demand for its ancestry testing kits. In addition, a data breach that occurred in 2023 exposed genetic data of nearly seven million customers to the offending hackers, contributing to concerns related to privacy issues.
Regeneron to Continue 23andMe’s Genomic Services
Based in Tarrytown, NY, Regeneron intends to continue uninterrupted service of 23andMe’s consumer genome services as a subsidiary business. The company asserted in its new release that it “intends to ensure compliance with 23andMe’s consumer privacy policies and applicable laws with respect to the treatment of customer data.”
The current issue of The Dark Report notes that the fate of patient DNA samples is a significant concern for 23andMe’s customers as the bankruptcy proceeds. “At least two state attorneys general, for California and Pennsylvania, have urged consumers to think critically about whether to allow their data to remain with 23andMe,” The Dark Report observed.
Regeneron has sought to reassure consumers who have used 23andMe’s services.
“Regeneron Genetics Center is committed to and has a proven track record of safeguarding the genetic data of people across the globe, and, with their consent, using this data to pursue discoveries that benefit science and society, said Aris Baras, MD, senior vice president and head of the Regeneron Genetics Center, in the news release. “We assure 23andMe customers that we are committed to protecting the 23andMe dataset with our high standards of data privacy, security and ethical oversight, and will advance its full potential to improve human health.”
Court to Review Protection of Customer Data
As part of the deal, Regeneron agreed to detail the intended use of 23andMe’s customer data, privacy programs, and security controls for review by a court-appointed, independent customer privacy ombudsman (CPO) and other interested parties.
The US Trustee Office handling the case appointed Neil Richards, JD, a law professor at Washington University School of Law as the CPO for the case. Richards will present a report to the court on June 10 outlining any potential impact on the security of 23andMe’s customer data. The acquisition is scheduled for review and potential approval on June 17.
“We are pleased to have reached a transaction that maximizes the value of the business and enables the mission of 23andMe to live on, while maintaining critical protections around customer privacy, choice and consent with respect to their genetic data,” said Mark Jensen, 23andMe’s board chair in a statement.
Regeneron will provide further details regarding its plans for customer data use as the court hearings proceed.
