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Pet Owner Sends Her Own Cheek Swab Samples to a Pet DNA Testing Laboratory and Gets a Report That She is Part Border Collie and Bulldog

In a follow-up story, investigative news team in Boston sends a reporter’s cheek swab sample to the same pet DNA testing lab: report states the reporter is part Malamute, Shar Pei, and Labrador Retriever

One pet DNA testing company returned results from human cheek swabs showing two different people were in fact part dog. The resulting local reporting calls into question the accuracy of DNA testing of our beloved furry friends and may impact the trust people have in clinical laboratory genetic testing as well.

Pet DNA analysis is nearly as popular as human DNA analysis. The market is expected to exceed $700 million by the end of the decade, according to Zion Market Research. But are customers getting their money’s worth? One CBS news station in Boston decided to find out.

Last year, the WBZ I-Team, the investigative part of a CBS News station in Boston, looked into the accuracy of pet DNA testing. They reported on a pet owner who questioned the DNA test results she received for her German Shepard. The report indicated that her dog had DNA from more than 10 breeds, besides German Shepard.

During their research, the WBZ investigative reporters learned that pet owners order these tests to reveal what one pet DNA testing company described as understanding “your dog’s unique appearance, behavior, and health.”

“So, the WBZ-TV I-Team came with more tests from different companies to compare. All came back with some German Shepherd, but the percentages ranged from 65% to just 29%. Aside from that, the three companies showed a puzzling hodgepodge of other breeds. One included Great Pyrenees, another came back with Siberian Husky, another listed Korean Jindo, and the list goes on,” WBZ News reported.

The owner of the German Shepard then sent two swab samples from her own cheeks to one of the pet DNA testing companies. The test results indicated that she was 40% Border Collie, 32% Cane Corso, and 28% Bulldog.

The company that performed that DNA testing—DNA My Dog—insisted to the WBZ I-Team that one of the pet owner’s cheek samples contained dog DNA, WBZ News reported.

“The second sample did in fact yield canine DNA. … The results provided would not be possible on a human sample,” Jessica Barnett, Director of Service Operations, DNA My Dog, told WBZ News.

This must have come as a shock to the pet owner, who is probably sure she is not part dog.

 “I think that is a red flag for sure,” Lisa Moses, VMD (above), a veterinarian and bioethicist with Harvard Medical School, told WBZ News. “A company should know if they’ve in any basic way analyzed a dog’s DNA, that that is not a dog,” she said. One wonders what might happen if a dog’s DNA was secretly sent to a clinical laboratory performing human genetic testing. What might the results be? (Photo copyright: Harvard Medical School.)

Two Times is the Charm

To continue its investigation into this odd occurrence, the WBZ I-Team decided to repeat the test this year. They sent a cheek saliva sample from one of their own reporters to three different dog DNA testing companies. 

According to the I-Team report, one company, Orivet, said the sample “failed to provide the data necessary to perform breed ID analysis. Another company, Wisdom Panel stated the sample “didn’t provide enough DNA to produce a reliable result.”

However, DNA My Dog once again reported that the human sample belonged to a canine. This time the company’s test reported that the DNA sample was 40% Alaskan Malamute, 35% Shar Pei, and 25% Labrador Retriever.

DNA My Dog did not respond to WBZ I-Team’s attempt to contact them for a comment, WBZ News reported.

Wild West of DNA Testing

“I personally do have concerns about the fact that, from a consumer standpoint, you don’t always know what you’re getting when you work with those companies,” said geneticist Elinor Karlsson, PhD, Director of the Vertebrate Genomics Group at the Broad Institute of MIT and Harvard, told WBZ News. “There’s not a lot of rules in this space.”

Karlsson is also founder and Chief Scientist at Darwin’s Ark, a nonprofit organization that combines dog genetics and behavior to advance the understanding of complex canine diseases. People participating in the initiative contribute data about their dogs to an open source database, which is then shared with researchers around the globe. To date, more than 44,000 dogs have been registered with the project. 

She hopes that reports like the one from the WBZ I-Team will not dissuade interest in pet genetics, as the science does have significant value when performed correctly. 

“We might be able to figure out which dogs are at risk of getting cancer, and screen them more often and be able to diagnose it earlier,” Karlsson said. “We might be able to develop new treatments for that cancer.”

“There isn’t necessarily a gold standard answer for what your dog is,” veterinarian and bioethicist Lisa Moses, VMD, co-director of the Capstone Program for the Master of Science in Bioethics Program at Harvard Medical School, told WBZ News. “A breed is something that we’ve decided, which is based upon essentially the way a dog looks. But that doesn’t necessarily mean that we’re going to know what their genes look like.”

DNA My Dog Awarded ‘Best Budget Dog DNA Test’

In February, US News and World Report published an article rating the best dog DNA tests of 2024. The magazine ranked the DNA My Dog Essential Breed ID Test as the “best budget dog DNA test on the market.” The test sells for $79.99. According to the company’s website, a simple cheek swab yields:

  • A complete breed breakdown,
  • Genetic health concerns,
  • Unique personality traits, and
  • Bonding tips for dogs and their owners.

“I worry about people making medical decisions … based on one of these tests,” Moses told WBZ News, which added that, “She and some of her colleagues have called on lawmakers to set standards and regulations for pet DNA labs, and to require them to share their databases with each other, for more consistent results.”

The investigation into pet DNA testing by the television news reporters in Boston is a reminder to clinical lab managers and pathologists that DNA testing can be problematic in many ways. Also, when consumers read news stories like this one about inaccurate canine DNA testing, it can cause them to question the accuracy of other types of DNA testing.

—JP Schlingman

Related Information:

I-Team: How Accurate Are Pet DNA Tests? We Sent One Lab a Swab From a Human

Pet DNA Company Sends Back Dog Breed Results from Human Sample a Second Time

Pet DNA Testing Company in Doghouse after Identifying Human as Canine

Best Dog DNA Tests of 2024

Global Dog DNA Test Market Size Forecast Projected to Growth to USD 723 Million by 2030 with 15.1% CAGR

Dog DNA Test Market Size Report, Industry Share, Analysis, Growth 2030

AXIM Biotechnologies Develops Diagnostic Test for Parkinson’s Disease That Uses Tear Drop Specimens and Returns Results in Less than 10 Minutes at the Point of Care

New non-invasive test could replace traditional painful spinal taps and clinical laboratory fluid analysis for diagnosis of Parkinson’s disease

Scientists at AXIM Biotechnologies of San Diego have added another specimen that can be collected non-invasively for rapid, point-of-care clinical laboratory testing. This time it is tears, and the diagnostic test is for Parkinson’s disease (PD).

The new assay measures abnormal alpha-synuclein (a-synuclein), a protein that is a biomarker for Parkinson’s, according to an AXIM news release which also said the test is the first rapid test for PD.

“The revolutionary nature of AXIM’s new test is that it is non-invasive, inexpensive, and it can be performed at a point of care. It does not require a lumbar puncture, freezing, or sending samples to a lab. AXIM’s assay uses a tiny tear drop versus a spinal tap to collect the fluid sample and the test can be run at a doctor’s office with quantitative results delivered from a reader in less than 10 minutes,” the news release notes.

A recent study conducted by the Michael J. Fox Foundation for Parkinson’s Research published in The Lancet Neurology titled, “Assessment of Heterogeneity among Participants in the Parkinson’s Progression Markers Initiative Cohort Using Α-Synuclein Seed Amplification: A Cross-Sectional Study,” found that “the presence of abnormal alpha-synuclein was detected in an astonishing 93% of people with Parkinson’s who participated in the study,” the news release noted.

“Furthermore, emerging evidence shows that a-synuclein assays have the potential to differentiate people with PD from healthy controls, enabling the potential for early identification of at-risk groups,” the news release continues. “These findings suggest a crucial role for a-synuclein in therapeutic development, both in identifying pathologically defined subgroups of people with Parkinson’s disease and establishing biomarker-defined at-risk cohorts.”

This is just the latest example of a disease biomarker that can be collected noninvasively. Other such biomarkers Dark Daily has covered include:

“With this new assay, AXIM has immediately become a stakeholder in the Parkinson’s disease community, and through this breakthrough, we are making possible new paradigms for better clinical care, including earlier screening and diagnosis, targeted treatments, and faster, cheaper drug development,” said John Huemoeller, CEO, AXIM (above), in a news release. Patients benefit from non-invasive clinical laboratory testing. (Photo copyright: AXIM Biotechnologies.)

Fast POC Test versus Schirmer Strip

AXIM said it moved forward with its novel a-synuclein test propelled by earlier tear-related research that found “a-synuclein in its aggregated form can be detected in tears,” Inside Precision Medicine reported.

But that research used what AXIM called the “outdated” Schirmer Strip method to collect tears. The technique involves freezing tear samples at -80 degrees Celsius (-112 Fahrenheit), then sending them to a clinical laboratory for centrifugation for 30 minutes; quantifying tear protein content with a bicinchoninic acid assay, and detecting a-synuclein using a plate reader, AXIM explained.

Alternatively, AXIM says its new test may be performed in doctors’ offices and offers “quantitative results delivered from a reader in less than 10 minutes.”

“Our proven expertise in developing tear-based diagnostic tests has led to the development of this test in record speed, and I’m extremely proud of our scientific team for their ability to expand our science to focus on such an important focus area as Parkinson’s,” said John Huemoeller, CEO, AXIM in the news release.

“This is just the beginning for AXIM in this arena,” he added. “But I am convinced when pharmaceutical companies, foundations, and neurologists see how our solution can better help diagnose Parkinson’s disease in such an expedited and affordable way, we will be at the forefront of PD research, enabling both researchers and clinicians a brand-new tool in the fight against PD.”

AXIM acquired Advanced Tear Diagnostics, Birmingham, Ala., in 2021. As part of this acquisition, it obtained two US Food and Drug Administration-cleared tests for dry eye syndrome, Fierce Biotech reported.

One of those tests was “a lateral flow diagnostic for point-of-care use that measures the level of lactoferrin proteins in tear fluid, which work to protect the surface of the eye. … Axim said that low lactoferrin levels have also been linked to Parkinson’s disease and that the assay can be used alongside its alpha-synuclein test,” Fierce Biotech noted.

Why Tears for PD Test?

Mark Lew, MD, Professor of Clinical Neurology, University of Southern California Keck School of Medicine, published earlier studies about using tear samples as biomarkers for Parkinson’s disease.

“It made sense to try and look at the proteinaceous [consisting of or containing protein] constituents of tear fluid,” Lew told Neurology Live. “Tear fluid is easy to collect. It’s noninvasive, inexpensive. It’s not like when you do a lumbar puncture, which is a much more involved ordeal. There’s risk of contamination with blood (saliva is dirty) issues with blood and collection. [Tear fluid analysis] is much safer and less expensive to do.”

In Biomarkers in Medicine, Lew et al noted why tears make good biomarkers for Parkinson’s disease, including “the interconnections between the ocular [eye] surface system and neurons affected in Parkinson’s disease.”

The researchers also highlighted “recent data on the identification of tear biomarkers including oligomeric α-synuclein, associated with neuronal degeneration in PD, in tears of PD patients” and discussed “possible sources for its release into tears.”

Future Clinical Laboratory Testing for Parkinson’s

Parkinson’s disease is the second most common neurodegenerative disorder after Alzheimer’s. It affects nearly one million people in the US. About 1.2 million people may have it by 2030, according to the Parkinson’s Foundation.

Thus, an accurate, inexpensive, non-invasive diagnostic test that can be performed at the point of care, and which returns clinical laboratory test results in less than 10 minutes, will be a boon to physicians who treat PD patients worldwide.

Clinical laboratory managers and pathologists may want to follow AXIM’s future research to see when the diagnostic test may become available for clinical use.

—Donna Marie Pocius

Related Information:

Parkinson’s Disease Biomarker Found

AXIM Biotechnologies Develops First Non-Invasive, Rapid, Point-of-Care, Diagnostic Test for Parkinson’s Disease

Assessment of Heterogeneity Among Participants in the Parkinson’s Progression Markers Initiative Cohort Using A-Synuclein Seed Amplification: a Cross-sectional Study

Tear Drop Test is First Rapid, Point-of-Care Diagnostic for Parkinson’s Disease

New Test Aims to Spot Signs of Parkinson’s Disease within a Tear Drop

Motivations for Using Tears to Confirm Parkinson’s Disease Diagnosis

Tears—More to Them than Meets the Eye: Why Tears are a Good Source of Biomarkers in Parkinson’s Disease

Tufts Medicine Study Shows Rapid Whole Genome Sequencing Highly Successful at Screening Newborns for Cancer in Children’s Hospitals

Pathologists and clinical laboratories have an opportunity to help create newborn rWGS programs in their parent hospitals and health systems

Diagnosing disease in infants is particularly difficult using typical clinical laboratory testing and modalities. Thus, the use of rapid Whole Genome Sequencing (rWGS) is gaining acceptance when such a procedure is deemed “medically appropriate” based on the child’s symptoms.

In “Whole Genome Sequencing for Newborns Gains Favor,” Robert Michel, Editor-in-Chief of Dark Daily’s sister publication The Dark Report wrote, “Evidence is swiftly accumulating that use of rapid Whole Genome Sequencing for certain children in NICUs can enable diagnostic insights that guide effective interventions. Further, these pilot rWGS programs in children’s hospitals are showing a solid return on investment because of improved care. It is predicted that more hospitals may soon offer rWGS.”

Michel’s prediction is backed up by a recent study published in JAMA Network titled, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder.”

Conducted at Tufts Medical Center in Boston, the researchers found that “Whole genome tests are nearly twice as good as narrower tests at unearthing genetic abnormalities that can cause disease in infants—the study found 49% of abnormalities, compared to 27% with more commonly used tests targeting particular types of genetic diseases,” the Associate Press reported.

The AP story follows the medical journey of a now 4-year-old who was diagnosed with a rare bleeding disorder. The nearly fatal condition was only caught because broad genetic testing found she suffered from factor XIII deficiency, a blood disorder characterized by the inability to clot properly.

“I’ve been doing clinical trials of babies for over 40 years,” neonatologist Jonathan Davis, MD (above), Chief, Division of Newborn Medicine at Tufts Children’s Hospital at Tufts Medical Center and Professor of Pediatrics, Tufts University School of Medicine, told the AP. “It’s not often that you can do something that you feel is going to really change the world and change clinical practice for everyone.” Clinical laboratories that work with oncologists to treat children suffering from cancer will understand Davis’ enthusiasm. (Photo copyright: Tufts Medicine.)

Incorporating Rapid Whole Genome Sequencing into Infant Care

Genetic diseases are responsible for 41% of infant deaths, according to a Rady Children’s Institute press release, which goes on to say the usage of rWGS may significantly improve the odds for infants born with genetic disorders.

“Broad use of genomic sequencing during the first year of life could have a much greater impact on infant mortality than was recognized hitherto,” said Stephen Kingsmore MD, President/CEO, Rady Children’s Institute for Genomic Medicine, which was one of the additional study sites for the Tufts Medicine researchers.

Genetic testing is already used to predict infant health outcomes, but the Tufts study highlights further developments that could improve the process. Prenatal genetic testing can be utilized both through carrier testing to determine any potential genetic red flags in the parents, and during prenatal screening and diagnostic testing of the fetus.

When an infant presents symptoms after birth, rWGS can then be implemented to cast a broad net to determine the best course of treatment.

According to ScienceDaily, the Tufts study found rWGS “to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible for genetic disorders in newborns and infants.”

However, the rWGS tests took an average of six days to come back, whereas the targeted tests took only four days, ScienceDaily reported. Also, there is not full consensus on whether a certain gene abnormality is actually the cause of a specific genetic disorder.

“Many neonatologists and geneticists use genome sequencing panels, but it’s clear there are a variety of different approaches and a lack of consensus among geneticists on the causes of a specific patient’s medical disorder,” Jill Maron, MD, Vice Chair of Pediatric Research, Tufts Medical Center, and a co-principal investigator of the Tufts study, told Science Daily

rWGS Costs versus Return on Investment

Some also question the upfront cost of genetic testing. It can be high, but it’s coming down and Maron stresses the importance of the tests.

“Genome sequencing can be costly, but in this targeted, at-risk population, it proves to be highly informative. We are supportive of ongoing efforts to see these tests covered by insurance,” she told ScienceDaily.

Each of the doctors associated with the Tufts study emphasized the importance of this testing and the good that can be done for this vulnerable group. The potential value to the children, they say, far outweighs the drawbacks of the testing.

“This study provides further evidence that genetic disorders are common among newborns and infants,” Kingsmore told ScienceDaily, “The findings strengthen support for early diagnosis by rapid genomic sequencing, allowing for the use of precision medicine to better care for this vulnerable patient population.”

For clinical laboratories, there is also good news about reimbursement for rWGS. In a story published last fall KFF Health News wrote, “Since 2021, eight state Medicaid programs have added rapid whole-genome sequencing to their coverage or will soon cover it, according to GeneDX, a provider of the test. That includes Florida … The test is also under consideration for coverage in Georgia, Massachusetts, New York, and North Carolina, according to the nonprofit Rady Children’s Institute for Genomic Medicine, another major provider of the test.”

“Collectively, these developments are encouraging children’s hospitals, academic centers, and tertiary care centers to look at establishing their own rWGS programs,” wrote Michel in The Dark Report. “In settings where this is appropriate, hospital and health system-based clinical laboratories have an opportunity to take an active role in helping jump start a newborn rWGS program in their institutions.”

Pathologists should continue to monitor rWGS, as well as prenatal and carrier testing, to have a full awareness of its growing use in infant and young child cancer screening.

—Ashley Croce

Related Information:

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants with a Suspected Genetic Disorder

A Broad Genetic Test Saved One Newborn’s Life. Research Suggests it Could Help Millions of Others

Whole Genome Sequencing for Newborns Gains Favor

Study Finds Association of Genetic Disease and Infant Mortality Higher than Previously Recognized: 41% of Infant Deaths Associated with Genetic Diseases

Prenatal Genetic Screening Tests

Genome Sequencing Highly Effective at Diagnosing Genetic Disorders in Newborns and Infants

Rapid Genome Sequencing for Diagnosing Critically Ill Infants and Children: From Evidence to Equitable Implementation

Rapid Whole Genome Sequencing Has Clinical Utility in Children in the Pediatric Intensive Care Unit

Stanford University Scientists Discover New Lifeform Residing in Human Microbiome

Though they are a mystery, once solved, Obelisks could lead to new biomarkers for clinical laboratory testing

Microbiologists and clinical laboratories know that human microbiota play many important roles in the body. Now, scientists from Stanford University have discovered an entirely new class of “viroid-like” lifeforms residing inside the human body. The researchers detected their presence in both the gut microbiome and saliva samples. Most interesting of all, the researchers are not sure what the lifeforms actually are.

The Stanford researchers, led by PhD student Ivan Zheludev, called the new discovery “Obelisks” due to their RNA structures, which are short and can fold into structures that resemble rods.

The scientists believe the Obelisks went undetected until now in the human microbiome due to their compact genetic elements, which are only around 1,000 characters or nucleotides in size. A typical human DNA structure consists of around three billion nucleotides. 

In an article they published on the biology preprint server bioRxiv titled, “Viroid-like Colonists of Human Microbiomes,” the Stanford researchers wrote, “Here, we describe the ‘Obelisks,’ a previously unrecognized class of viroid-like elements that we first identified in human gut metatranscriptomic data. … Obelisks comprise a class of diverse RNAs that have colonized and gone unnoticed in human and global microbiomes.”

The researchers discovered that Obelisks “form their own distinct phylogenetic group with no detectable sequence or structural similarity to known biological agents.”

This is yet another example of how researchers are digging deeper into human biology and finding things never before identified or isolated.

“I am really impressed by the approach. The authors were really creative,” computational biologist Simon Roux, PhD (above) of the Department of Energy (DEO) Joint Genome Institute at Lawrence Berkeley National Laboratory told Science in response to the Stanford researcher’s published findings. “I think this [work] is one more clear indication that we are still exploring the frontiers of this viral universe. This is one of the most exciting parts of being in this field right now. We can see the picture of the long-term evolution of viruses on Earth start to slowly emerge.” How these findings might eventually spark new biomarkers for clinical laboratory testing remains to be seen. (Photo copyright: Berkeley Lab.)

Researchers Bewildered by Obelisks

In their study, “Zheludev and team searched 5.4 million datasets of published genetic sequences and identified almost 30,000 different Obelisks. They appeared in about 10% of the human microbiomes the team examined,” Science reported.

The Stanford researchers found that various types of Obelisks seem to inhabit different areas of the body. In one dataset, the Obelisks were found in half of the oral samples.

The function of Obelisks is unknown, but their discovery is bewildering experts.

“It’s insane,” Mark Peifer, PhD, Michael Hooker Distinguished Professor of Biology at the University of North Carolina School of Medicine told Science. “The more we look, the more crazy things we see.”

According to the bioRxiv paper, the Obelisks share several properties, including:

  • Apparently Circular RNA ~1kb genome assemblies,
  • Rod-like secondary structures encompassing the entire genome, and
  • Open reading frames coding for a novel protein superfamily, which the researchers dubbed “Oblins.” 

At least half of the genetic material of the Obelisks was taken up by these Oblins. The researchers suspect those proteins may be involved in the replication process of the newly-discovered lifeforms.

The Oblins are also significantly larger than other genetic molecules that live inside cells and they do not have the genes to create protein shells that RNA viruses live within when they are outside of cells. 

“Obelisks, therefore, need some kind of host. The researchers managed to identify one: A bacterium called Streptococcus sanguinis that lives mostly in dental plaque in our mouths. Exactly which other hosts obelisks inhabit is yet another mystery, as are what they do to their host and how they spread,” Vice reported.

“While we don’t know the ‘hosts’ of other Obelisks, it is reasonable to assume that at least a fraction may be present in bacteria,” the researchers noted in their bioRxiv paper.

Researchers are Stumped

The Stanford scientists were unable to identify any impact the Obelisks were having on their bacterial hosts—either negative or positive—or determine how they could spread between cells.

“These elements might not even be ‘viral’ in nature and might more closely resemble ‘RNA plasmids,’” they concluded in their paper. 

The Stanford scientists are uncertain as to where or what the hosts of the Obelisks are, but they suspect that at least some of them are present in bacteria. However, Obelisks do not appear to be similar to any biological agents that could provide a link between genetic molecules and viruses. 

And so, Obelisks are a true mystery—one the Stanford researchers may one day solve. If they do, new biomarkers for clinical laboratory testing may not be far behind.

—JP Schlingman

Related Information:

“It’s Insane”: New Virus-like Entities Found in Human Gut Microbes

Viroid-like Colonists of Human Microbiomes

‘Obelisks’: Entirely New Class of Life Has Been Found in the Human Digestive System

Scientists Discover New Lifeform Inside Human Bodies

Scientists Have Identified an Entirely New Form of Life in the Gut: Obelisks

Intriguing Find. Stanford University Discovers Obelisks Hiding in Human Microbiomes

New Lifeform Discovered Inside Human Guts

Scientists Discovered Strange ‘Entities’ Called ‘Obelisks’ in Our Bodies. Their Purpose Is a Mystery.

Obelisks: New Life Found in the Human Digestive System

UK Study Claims AI Reading of CT Scans Almost Twice as Accurate at Grading Some Cancers as Clinical Laboratory Testing of Sarcoma Biopsies

Radiological method using AI algorithms to detect, locate, and identify cancer could negate the need for invasive, painful clinical laboratory testing of tissue biopsies

Clinical laboratory testing of cancer biopsies has been the standard in oncology diagnosis for decades. But a recent study by the Institute of Cancer Research (ICR) and the Royal Marsden NHS Foundation Trust in the UK has found that, for some types of sarcomas (malignant tumors), artificial intelligence (AI) can grade the aggressiveness of tumors nearly twice as accurately as lab tests, according to an ICR news release.

This will be of interest to histopathologists and radiologist technologists who are working to develop AI deep learning algorithms to read computed tomography scans (CT scans) to speed diagnosis and treatment of cancer patients.

“Researchers used the CT scans of 170 patients treated at The Royal Marsden with the two most common forms of retroperitoneal sarcoma (RPS)—leiomyosarcoma and liposarcoma—to create an AI algorithm, which was then tested on nearly 90 patients from centers across Europe and the US,” the news release notes.

The researchers then “used a technique called radiomics to analyze the CT scan data, which can extract information about the patient’s disease from medical images, including data which can’t be distinguished by the human eye,” the new release states.

The scientists published their findings in The Lancet Oncology titled, “A CT-based Radiomics Classification Model for the Prediction of Histological Type and Tumor Grade in Retroperitoneal Sarcoma (RADSARC-R): A Retrospective Multicohort Analysis.”

The research team sought to make improvements with this type of cancer because these tumors have “a poor prognosis, upfront characterization of the tumor is difficult, and under-grading is common,” they wrote. The fact that AI reading of CT scans is a non-invasive procedure is major benefit, they added.

Christina Messiou, MD

“This is the largest and most robust study to date that has successfully developed and tested an AI model aimed at improving the diagnosis and grading of retroperitoneal sarcoma using data from CT scans,” said the study’s lead oncology radiologist Christina Messiou, MD, (above), Consultant Radiologist at The Royal Marsden NHS Foundation Trust and Professor in Imaging for Personalized Oncology at The Institute of Cancer Research, London, in a news release. Invasive medical laboratory testing of cancer biopsies may eventually become a thing of the past if this research becomes clinically available for oncology diagnosis. (Photo copyright: The Royal Marsden.)

Study Details

RPS is a relatively difficult cancer to spot, let alone diagnose. It is a rare form of soft-tissue cancer “with approximately 8,600 new cases diagnosed annually in the United States—less than 1% of all newly diagnosed malignancies,” according to Brigham and Women’s Hospital.

In their published study, the UK researchers noted that, “Although more than 50 soft tissue sarcoma radiomics studies have been completed, few include retroperitoneal sarcomas, and the majority use single-center datasets without independent validation. The limited interpretation of the quantitative radiological phenotype in retroperitoneal sarcomas and its association with tumor biology is a missed opportunity.”

According to the ICR news release, “The [AI] model accurately graded the risk—or how aggressive a tumor is likely to be—[in] 82% of the tumors analyzed, while only 44% were correctly graded using a biopsy.”

Additionally, “The [AI] model also accurately predicted the disease type [in] 84% of the sarcomas tested—meaning it can effectively differentiate between leiomyosarcoma and liposarcoma—compared with radiologists who were not able to diagnose 35% of the cases,” the news release states.

“There is an urgent need to improve the diagnosis and treatment of patients with retroperitoneal sarcoma, who currently have poor outcomes,” said the study’s first author Amani Arthur, PhD, Clinical Research Fellow at The Institute of Cancer Research, London, and Registrar at The Royal Marsden NHS Foundation Trust, in the ICR news release.

“The disease is very rare—clinicians may only see one or two cases in their career—which means diagnosis can be slow. This type of sarcoma is also difficult to treat as it can grow to large sizes and, due to the tumor’s location in the abdomen, involve complex surgery,” she continued. “Through this early research, we’ve developed an innovative AI tool using imaging data that could help us more accurately and quickly identify the type and grade of retroperitoneal sarcomas than current methods. This could improve patient outcomes by helping to speed up diagnosis of the disease, and better tailor treatment by reliably identifying the risk of each patient’s disease.

“In the next phase of the study, we will test this model in clinic on patients with potential retroperitoneal sarcomas to see if it can accurately characterize their disease and measure the performance of the technology over time,” Arthur added.

Importance of Study Findings

Speed of detection is key to successful cancer diagnoses, noted Richard Davidson, Chief Executive of Sarcoma UK, a bone and soft tissue cancer charity.

“People are more likely to survive sarcoma if their cancer is diagnosed early—when treatments can be effective and before the sarcoma has spread to other parts of the body. One in six people with sarcoma cancer wait more than a year to receive an accurate diagnosis, so any research that helps patients receive better treatment, care, information and support is welcome,” he told The Guardian.

According to the World Health Organization, cancer kills about 10 million people worldwide every year. Acquisition and medical laboratory testing of tissue biopsies is both painful to patients and time consuming. Thus, a non-invasive method of diagnosing deadly cancers quickly, accurately, and early would be a boon to oncology practices worldwide and could save thousands of lives each year.

—Kristin Althea O’Connor

Related Information:

AI Twice as Accurate as a Biopsy at Grading Aggressiveness of Some Sarcomas

AI Better than Biopsy at Assessing Some Cancers, Study Finds

AI Better than Biopsies for Grading Rare Cancer, New Research Suggests

A CT-based Radiomics Classification Model for the Prediction of Histological Type and Tumor Grade in Retroperitoneal Sarcoma (RADSARC-R): A Retrospective Multicohort Analysis

UK’s NHS Offers Blood Pressure Screening for Men in Barber Shops and Other Public Locations in an Effort to Reach Consumers Where They Live and Work

This pioneering innovation is consistent with the trend to bring medical services to places more convenient for consumers and was spurred by a study which showed men twice as likely to have heart attacks than women

Patient-facing healthcare gets a boost with this novel program to offer a diagnostic service in locations frequented by men. In an attempt to decrease heart attacks in the UK, the country’s National Health Service (NHS) now employs a novel approach to prevention—bringing blood pressure screenings to the public in barbershops.

This is yet another example of moving diagnostics services out of traditional healthcare settings and reaching people in places that they visit in their daily lives. True, this is a blood pressure test. But once the service is established, it should be easy to collect other types of clinical laboratory specimens at barbershops as well. And if this approach enables healthcare policy makers to reach a population that needs further diagnostic tests—and it’s economically feasible—that may encourage adoption of this approach for other types of health screenings.

According to The Guardian, the screenings will be available at “barbershops, churches, mosques, community centers, and dominoes clubs.” The intention is to ensure screenings are more accessible, to educate the public, and to encourage lifestyle changes that lead to prevention.

This consumer-directed approach to healthcare by the NHS appears to be making a difference. The new screening locations already show promise. In 2023, efforts brought in 150,000 community-based blood pressure screenings by August. That more than doubled the previous year’s 58,000 that were performed by May, The Guardian noted.

The funding for this initiative is part of the NHS’ Delivery Plan for Recovering Access to Primary Care, an NHS England news release announced.

David Webb

“With the number of people living with major illnesses including heart disease and other cardiovascular conditions set to grow substantially over the coming years, it has never been more important to put in place preventive measures like easy-to-access blood pressure checks that can pick up the early signs and risks,” said David Webb (above), Chief Pharmaceutical Officer for England, NHS England, in a news release. Should this program succeed, it’s likely other types of clinical laboratory test specimens could also be collected in barbershops and other convenient locations. (Photo copyright: Paul Stuart/The Pharmaceutical Journal.)

Importance of Screening

According to the UK’s Health Foundation, more than 9.1 million people will have a major illness by 2040, and figures show an increase of 2.5 million from 2019 reports. These figures are “why prevention and early intervention tools such as community blood pressure checks are key priorities for the NHS,” the NHS news release states.

“Having high blood pressure raises the risk of a heart attack, but many men and women remain unaware they may be affected because typically there are no symptoms,” The Guardian reported. “Every year there are 100,000 NHS hospital admissions due to heart attacks—one every five minutes.”

The NHS’ moves were spurred by recent findings announced at the European Society of Cardiology’s 2023 annual meeting. The world’s largest heart conference showcased a 22-year-long study examining the gender-specific risks of cardiovascular diseases. The results clearly showed that men were twice as likely to experience heart attacks and peripheral artery disease than women.

The University of Aberdeen conducted the study which ran from 1993-2018 and followed 20,000 individuals over the age of 40. While researchers noted many factors—such as ethnicity, body mass index (BMI), physical activity, deprivation, consumption of alcohol, and cigarette smoke—a clear defining line landed between male and female participants, The Guardian reported. Additionally,“Men are also more likely to experience a heart attack at a younger age than women.”

And, according to the study, while cardiovascular disease was higher for men during their entire lifetime, “sex differences were most pronounced for myocardial infarction and peripheral artery disease, followed by atrial fibrillation, heart failure, and cardiovascular mortality,” The Guardian reported, adding, “Men also have a 50% higher risk of heart failure and atrial fibrillation. The study discovered that men have a 42% higher risk of dying from cardiovascular disease. The research did not look at why.”

Education Part of Prevention

“Men should start looking early at-risk factors, like obesity, lack of exercise, smoking, alcohol consumption, and reach out to their GP to get those things addressed. The earlier the better. There’s no harm in minimizing your cardiovascular risk,” Tiberiu Pana, MRes, lead researcher and honorary research fellow at the University of Aberdeen, told The Guardian. Pana is also a junior doctor in the NHS and focuses on cardiovascular epidemiology and the brain-heart interactions.

“Coronary heart disease is the most common killer of men. There’s never been a better time to get physically active and replace that pub session with an extra session in the gym,” cardiologist Sonya Babu-Narayan, MBBS, Associate Medical Director at the British Heart Foundation, told The Guardian. Babu-Narayan is also a consultant cardiologist at Royal Brompton Hospital.

Women, however, are not exempt from the risk of heart disease.

“If we consider the effects of heart disease over a lifetime, we need to remember that it costs lives for both men and women,” Babu-Narayan said. “With 30,000 women in the UK admitted to hospital with a heart attack each year, it is vital to dismantle the dogma that heart attacks are the preserve of men. Regardless of gender, cardiovascular disease is the world’s biggest killer and there are steps everyone can take to reduce their risks.”

In addition to the aforementioned community locations for screenings, NHS has launched a few other approaches to meet patients on their own turf.

A mobile blood pressure service named How’s Thi Ticker in Barnsley, South Yorkshire, “travels around local neighborhoods including to barber shops, supermarkets, and community centers, seeing more than a third of people referred to pharmacists with high blood pressure—freeing up GPs and catching early signs of heart attack and stroke risk,” according to the NHS news release.

Future Showing Further Promise

As the process continues, NHS expects to prevent 1,350 cardiovascular events every year, and expects to see 2.5 million more blood pressure checks performed in the community in England as a result of the endeavor, The Guardian noted.

One can only imagine how far this trend can go. Clinical laboratory managers and pathologists can expect healthcare policy makers in the UK to continue their efforts to bring needed diagnostic testing to underserved populations in accessible ways. This should be a win-win financially and in improving the health of the country’s population.

—Kristin Althea O’Connor

Related Information:

Men in England to Be Offered Blood Pressure Checks in Barbershops

NHS Blood Pressure Checks at the Barbers to Prevent Killer Conditions

Delivery Plan for Recovering Access to Primary Care

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