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.
Researchers in Sweden develop urine test that more effectively screens for prostate cancer than standard PSA test
Clinical laboratories may soon have a new inexpensive, non-invasive urine test to screen for prostate cancer that produces superior results compared to the standard PSA test.
An international team of scientists led by researchers at the Karolinska Institutet in Sweden found they could use machine learning to not only accurately identify the presence of a new set cancer biomarkers in urine samples but also determine the stage or grade of the cancer.
“There are many advantages to measuring biomarkers in urine,” said Mikael Benson, principal researcher in the Department of Clinical Science, Intervention and Technology at Karolinska Institutet and senior investigator for the study, in a news release. “It’s non-invasive and painless and can potentially be done at home. The sample can then be analyzed using routine methods in clinical labs.”
“New, more precise biomarkers than PSA can lead to earlier diagnosis and better prognoses for men with prostate cancer,” said Mikael Benson, principal researcher at Karolinska Institutet and senior investigator for the study, in a news release. “Moreover, it can reduce the number of unnecessary prostate biopsies in healthy men.” (Photo copyright: Karolinska Institutet.)
New Prostate Cancer Biomarkers
According to the American Cancer Society, there will be approximately 313,780 new cases of prostate cancer diagnosed this year in the US with about 35,770 deaths due to the disease. About one in eight US men will be diagnosed with prostate cancer in their lifetime, and the lifetime risk of dying from prostate cancer is one in 44 men.
“Early cancer diagnosis is crucial but challenging owing to the lack of reliable biomarkers that can be measured using routine clinical methods. The identification of biomarkers for early detection is complicated by each tumor involving changes in the interactions between thousands of genes. In addition to this staggering complexity, these interactions can vary among patients with the same diagnosis as well as within the same tumor,” the researchers wrote in Cancer Research.
The scientists “hypothesized that reliable biomarkers that can be measured with routine methods could be identified by exploiting three facts:
The same tumor can have multiple grades of malignant transformation;
These grades and their molecular changes can be characterized using spatial transcriptomics; and,
These changes can be integrated into models of malignant transformation using pseudotime models to prioritize the genes that were most correlated with malignant transformation.”
To perform their study, the scientists analyzed the mRNA activity of cells in prostate tumors to construct digital models of prostate cancer. These models were then examined using machine learning, a type of artificial intelligence (AI), to locate specific proteins that could be used as biomarkers.
The researchers evaluated these new biomarkers in urine, blood, and tissue samples from more than 2,000 prostate cancer patients along with a control group. The team’s final calculations found the results of the urine test surpassed the current PSA test traditionally used for diagnosing prostate cancer.
“Prostate cancer can be effectively identified by analyzing the expression of candidate biomarkers in urine,” lead study author Martin Smelik, PhD student at Karolinska Institutet, told Fox News. “This approach outperforms the current blood tests based on PSA, but at the same time keeps the advantages of being non-invasive, painless, and relatively cheap.”
Advancements over Traditional PSA Test
Although the prostate-specific antigen (PSA) test typically used by doctors to diagnose prostate cancer can screen for the disease and monitor its progression, it has limitations.
“While PSA is an incredibly sensitive tool for issues related to the prostate, it is not specific to prostate cancer,” Matthew Abramowitz, MD, associate professor in the Department of Radiation Oncology at the Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, told Fox News. “The techniques proposed in the current study suggest the promise of identifying specific cancer markers in the urine, minimizing some of the specificity concerns associated with PSA.”
“This study highlights the power of machine learning applied to patient data in identifying breakthroughs that can help us diagnose cancer earlier, when our treatments are most effective,” Timothy Showalter, MD, a radiation oncologist at UVA Health in Virginia, told Fox News. “Prostate cancer screening has not seen a transformative advance in decades, and current approaches still rely on the PSA blood test, which is known to have low specificity for clinically significant cancers.”
“Overall, this study demonstrates the diagnostic potential of combining spatial transcriptomics, pseudotime, and machine learning for prostate cancer, which should be further tested in prospective studies,” the researchers wrote.
The Karolinska Institutet team is planning large-scale clinical trials as the next phase of their exploration.
Findings may lead to new clinical laboratory testing and treatments for Parkinson’s patients
Gut bacteria have repeatedly been proven to perform critical roles in the development of certain diseases. And many clinical laboratory tests use human microbiota as biomarkers.
Now, researchers at Nagoya University Graduate School of Medicine in Japan have discovered a link between microbes in the gut and the brain. The connection may play a part in the development of Parkinson’s disease, according to a Nagoya University news release.
The researchers found that a reduction in the genes responsible for synthesizing riboflavin (vitamin B2) and biotin (vitamin B7) may increase the likelihood of developing Parkinson’s.
They also determined that the lack of these genes may lessen the integrity of the intestinal barrier that prevents toxins from entering the bloodstream causing the inflammation often seen in Parkinson’s patients.
“Supplementation therapy targeting riboflavin and biotin holds promise as a potential therapeutic avenue for alleviating Parkinson’s symptoms and slowing disease progression,” said lead researcher Hiroshi Nishiwaki, PhD, Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, in a news release. (Photo copyright: Nagoya University.)
Key Deficiencies in Parkinson’s Patients
According to the Parkinson’s Foundation, nearly one million people in the US are living with Parkinson’s and that number is expected to increase to 1.2 million by the year 2030. Approximately 90,000 new cases of Parkinson’s are diagnosed in the US each year, and more than 10 million people are living with the disease worldwide.
To perform their research, the Nagoya University team analyzed stool samples from 94 Parkinson’s patients from Japan, the US, Germany, China, and Taiwan. They also included 73 relatively healthy controls from Japan. They then used shotgun sequencing (a laboratory technique for determining the DNA sequence of an organism’s genome) to gain a better understanding of the microbial community and genetic makeup of each sample.
The scientists discovered a decrease in B2 and B7 vitamins in patients diagnosed with Parkinson’s. B vitamins promote the production and functions of short-chain fatty acids (SCFA) and polyamines.
“Supplementation of riboflavin and/or biotin is likely to be beneficial in a subset of Parkinson’s disease patients, in which gut dysbiosis plays pivotal roles,” the authors wrote in NPJ-Parkinson’s Disease.
The examination of fecal metabolites in Parkinson’s patients revealed a reduction in both components.
“Deficiencies in polyamines and SCFAs could lead to thinning of the intestinal mucus layer, increasing intestinal permeability, both of which have been observed in Parkinson’s,” said Hiroshi Nishiwaki, PhD, a professor at Nagoya University Graduate School of Medicine and a lead researcher for the study, in the news release.
“This higher permeability exposes nerves to toxins, contributing to abnormal aggregation of alpha-synuclein, activating the immune cells in the brain, and leading to long-term inflammation,” he added.
The team surmises that the weakened protective layer in the gut exposes the intestinal nervous system to more of the toxins people experience in everyday life, such as chemicals, pesticides, and herbicides. These types of toxins lead to the overproduction of alpha-synuclein fibrils. These molecules are aggregates of the α-synuclein protein that form into long, thread-like structures which are primarily found in the brains of individuals with neurodegenerative diseases like Parkinson’s.
Alpha-synuclein fibrils amass in dopamine-producing cells in the brain and increase the type of inflammation that leads to the debilitating motor skills and dementia symptoms of Parkinson’s.
Precision Medicine Analysis Suggested
Due to their research, the team proposes that high doses of vitamin B may help reduce the damage of toxins on the gut microbiome, help protect against neurodegenerative diseases like Parkinson’s, and aid in the creation of personalized therapy plans for patients.
“We could perform gut microbiota analysis on patients or conduct fecal metabolite analysis,” Nishiwaki noted. “Using these findings, we could identify individuals with specific deficiencies and administer oral riboflavin and biotin supplements to those with decreased levels, potentially creating an effective treatment.”
The results of the Nagoya University study illustrate the importance of a healthy gut microbiome in the prevention of disease. Altering the bacterial level in the gut may enable doctors to stave off the progression of neurodegenerative illnesses like Parkinson’s disease.
Discovery could lead to new clinical laboratory testing for cancer screening in new mothers
Any clinical laboratory test that returns unexpected results is worth looking into more deeply. Such was the case with a recent study conducted by the National Institutes of Health (NIH), which investigated cases of pregnant women who received “unusual” results to prenatal lab tests conducted at a dozen labs in North America.
Following cancer screening protocols that included rapid whole-body magnetic resonance imaging, NIH scientists discovered “previously undetected cancers in 48.6% of pregnant people who had abnormal results for prenatal cell-free DNA (cfDNA) testing used to screen for chromosomal disorders in the fetus,” according to an NIH news release.
“They looked like healthy young women, and they reported themselves as being healthy,” Diana Bianchi, MD, head of the Prenatal Genomics and Therapy Section for the Medical Genetics Branch at the NIH’s National Human Genetics Research Institute, and senior author of the government study, told the Associated Press (AP).
While cfDNA tests are not diagnostic, pathologists and clinical laboratory managers involved in genetic testing are likely familiar with them. The blood tests are used by expectant mothers to assess risk of a fetus with an abnormal number of chromosomes that could suggest disorders such as Down Syndrome, according to ARUP Laboratories.
Unexpected results from tests draw attention. This one seems to have a chance to get more traction with labs because the results point to a prenatal test having some success predicting cancer, even if incidentally.
“[The study participants] and their care providers need to take the results seriously and have additional testing because in that population there is a 48% risk of cancer,” Diana Bianchi, MD, senior author of the NIH study, told the AP. (Photo copyright: National Institutes of Health.)
Cancer Found in about Half of Those with Abnormal cfDNA
The NIH researchers started a long-term study, called IDENTIFY, to learn more about abnormal cfDNA results that could suggest cancer. Study participants must be:
Pregnant or postpartum with no known cancer.
Recipients of “unusual clinical cfDNA-sequencing results or results that are non-reportable (fetal aneuploidy status could not be assessed) from one of 12 different commercial laboratories,” they wrote in NEJM.
For the study’s initial cohort of 107 participants, researchers repeated cfDNA sequencing testing and coordinated standard medical diagnostic tests (such as Pap smears) and whole-body magnetic resonance imaging.
52 women (48.6%) were found to have “hidden cancers.”
32 had blood cancers.
20 had solid tumors in the breast, bile duct, colon, pancreas, lung, kidney, bone, and adrenal gland.
13 of the 20 with solid tumors were able to access “potentially curative treatments.”
55 women did not have cancer and may have obtained an unreliable cfDNA result.
“In this study, 48.6% of participants who received unusual or nonreportable clinical cfDNA-sequencing results had an occult cancer (cancer of unknown primary).
“Further study of DNA-sequencing patterns that are suggestive of occult cancer during prenatal screening is warranted,” the researchers wrote in NEJM.
Follow-Up Testing Needed
Cancers found in the study participants “included colorectal, breast, lung and pancreatic cancers, as well as lymphoma, cholangiocarcinoma and renal carcinoma. The screening test analyzes placental DNA fragments circulating in the maternal bloodstream to identify an extra chromosome or to determine the baby’s sex,” according to the NIH news release.
Bianchi told AP the study results also pointed to a “very chaotic” pattern in DNA-sequencing of women with cancer, and that more research is needed to find out who should be screened for cancer.
Clinical laboratories and pathologists who analyze cfDNA tests could take a leadership role in assessing current standards for the tests, determining how suspicious results are reported, and suggesting needed changes.
Lab professionals will learn more at the upcoming 30th annual edition of the event
Big changes and challenges are coming for the clinical laboratory anatomic pathology industry, and with them a slew of opportunities for lab and pathology practice leaders. At the upcoming 30th Annual Executive War College on Diagnostics, Pathology, and Clinical Laboratory Management, expert speakers and panelists will focus on the three most disruptive forces.
There will be more than 169 presenters at this year’s Executive War College. Those speakers include:
David Dexter, MD, clinical and laboratory pathology at M Health Fairview, and Sam Terese, president and CEO at Alverno Laboratories, who will present a strategic case study about the support labs can provide to parent hospitals when navigating new waters.
Paul Wilder, executive director of CommonWell Health Alliance, who will speak on the effort to improve the transferability and portability of patient and healthcare data in ways that improve the quality of care.
“Since the inception of The Dark Report in 1995 there has been continual change both within the US healthcare system and within the profession of laboratory medicine,” noted Robert L. Michel, Dark Daily’s editor-in-chief and creator of the Executive War College. “Now, three decades later, the following three items are imperatives for all labs: controlling costs; having adequate lab staff across all positions; and having enough capital to acquire and deploy new diagnostic technologies, along with the latest information technologies.”
“Most clinical laboratory managers would agree that many of the same operational pain points faced by labs in the 1990s exist today,” said Robert L. Michel (above), founder of the Executive War College. In an interview with Dark Daily, Michel broke down the nuances of this triad of forces and what participants in the Executive War College can expect. (Photo copyright: LabX.)
Forces at Work in Clinical Labs and Pathology Groups
Here’s a more detailed look at each of the forces that Michel noted.
Force 1: An acute shortage of experienced lab scientists
“When you look at the supply-demand for laboratory personnel in the United States today, it is recognized that demand exceeds supply, and that gap continues to widen,” Michel noted. “For example, in the case of anatomic pathologists, the increased number of case referrals grows faster than medical schools can train new pathologists. Currently, the ability of pathology laboratories large and small to hire and retain an adequate number of pathologists is a challenge.”
Executive War College attendees can expect panelists and speakers to highlight creative problem solving techniques to circumvent the challenges labor shortages cause.
Force 2: New applications of artificial intelligence
“Today every instrument vendor, every automation supplier, every software supplier, every service supplier is telling labs that they have artificial intelligence (AI) baked inside,” Michel observed. “It is important for lab managers to understand that a variety of technologies are used by different AI solutions.”
Clinical laboratory managers and pathologists interested in acquiring a deeper understanding of where to start with AI in their lab will find numerous sessions on artificial intelligence at this year’s Executive War College. “There will be a number of sessions this year where clinical labs discuss their success deploying various AI solutions,” Michel said.
Force 3: Financial stress across the entire US healthcare system
“It’s recognized that a significant number of US hospitals and integrated delivery networks (IDNs) are struggling to maintain adequate operating margins,” Michel noted. “This obviously impacts the clinical laboratories serving these hospitals. If the hospitals’ cash flows and operating profit margins are being squeezed, typically the administration comes to the lab team and says, ‘Your budget for next year will be x% less than this year.’
“There are many IDNs and hospital labs where budget cuts have happened for multiple years,” Michel continued. “As a consequence, labs in these hospitals must be nimble to maintain a high-quality menu of diagnostic tests. Several years of such budget cuts by the parent hospital can undermine the ability of the clinical lab team to offer competitive salary packages to attract and retain the clinical lab scientists, pathologists, and clinical chemists they need.”
Recognizing Opportunities in Today’s Lab Market
The good news is that—despite the negative forces acting upon the US healthcare system today—clinical laboratories, genetic testing companies, and anatomic pathology groups have a path forward.
“This path forward is informed by two longstanding precepts recognized by innovative managers. One precept is ‘Change creates new winners and losers.’ The other precept is ‘Change creates opportunity,’” Michel said. “Savvy lab leaders recognize the powerful truths in each precept.
“As healthcare has changed over the past four decades, nearly all the regional and national laboratories that were dominant in 1990, for example, don’t exist today!” he noted. “And yet, even as these lab organizations disappeared, new clinical lab organizations emerged that recognized healthcare’s changes and organized themselves to serve the changing needs of hospitals, office-based physicians, payers, and patients.”
All of these critical topics and more will be covered during the 30th Annual Executive War College on Diagnostics, Clinical Laboratory, and Pathology Management on April 29-30, 2025, at the Hyatt Regency in New Orleans. Signup today to bring your lab’s management team by registering at https://www.executivewarcollege.com.
