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Clinical Laboratories and Pathology Groups

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American Board of Pathology Admits to Mistakenly Failing 78 Students

Incorrect results spanned exams from 2022-2024 with those students affected by this situation stunned by ABPath’s admission

There are always young anatomic pathologists who experience the heartache of failing board exams. Failing, after all, is part of the education process. But how disheartening would it be to learn years later that you actually passed those exams? For about 70 pathology students that’s exactly what happened.

On October 3, the American Board of Pathology (ABPath) announced that “a small percentage” of students were told they had failed an exam when they had not, MedPage Today reported. The test dates ranged from 2022 to 2024 and affected 76 students out of 4,059.

In its official statement, ABPath wrote that it had “recently conducted a reassessment and rescoring of the Primary and Subspecialty certification examinations. In doing so, ABPath identified that a small percentage of candidates (less than 2%) actually met the passing score requirements that were previously scored as slightly below the passing score threshold.”

The organization added, “The impacted candidates have all been notified. Those candidates received a passing score for their respective certification examination and will receive a refund of their application fee, as well as any fees paid toward subsequent examinations. Impacted training programs will be receiving notifications soon.”

According to MedPage Today, which received a copy of the email from a pathology student, “ABPath’s email to affected test takers was brief, explaining that a reassessment of the anatomic pathology certification examination ‘disclosed that your score exceeded the cut-score threshold for a passing score, rather than being slightly below it.’”

Many pathology students were stunned by ABPath’s admission and went to message boards to vent their frustration.

“Failing a major board hits you hard especially after so many years of training and so much time spend on studying. This situation was a shock, a disappointment, and a betrayal,” one former student identified as Idfcwytas wrote on Reddit concerning ABPath’s revelation, MedPage Today reported.

In its coverage of the ABPath announcement, MedPage Today wrote, “Bryan Carmody, MD (above), of Eastern Virginia Medical School in Norfolk, who blogs frequently about medical education issues, said that a situation like this decreases trust in the boards themselves, and that being mistakenly failed has financial and career impacts. For instance, he said, ‘many hospitals require board certification to get hospital privileges or to work there … so if you were applying to an academic job or something, I think it’s going to hurt your application.’” Anatomic pathologists understand clearly how lack of board certification affects their career goals. (Photo copyright: Eastern Virginia Medical School.)

ABPath’s Response and the Impact on Students

An ABPath spokesperson told MedPage Today, “We understand how significant this is to our candidates and diplomats and are committed to working closely with those impacted. ABPath has also implemented improvements to our processes to prevent this issue in the future.”

No details were disclosed on what changes would be made going forward, MedPage Today noted. As a result of the mistake, ABPath refunded exam fees and offered affected testers updated certificates and letters showing the proper results.

Some declared that response does not go far enough. Many claimed ABPath’s efforts lack adequate financial compensation as well as genuine compassion.

Reddit user walleyealx wrote, “The mistake definitely cost me LOTS of time, mental anguish, and money. Please note, there was no apology at all in these emails, which makes me even more angry,” MedPage Today reported.

Several days after the initial email, ABPath offered an apology “for the frustration this has caused,” according to MedPage Today.

No Recourse for Failing Grades

ABPath’s website notes that failed exams cannot be appealed. This means that any students doubting their scores during those years would not have been able to challenge the results.

“Even if the board offers a refund for the exams, it hardly makes up for the time, money, and lost career opportunities these individuals have had to deal with,” noted the Lento Law Firm in a blog post following ABPath’s announcement.

The firm added, “This incident only affected about 2% of exam takers from 2022 to 2024, but it’s a significant issue for these people. Not getting board certification can mean no hospital privileges, which can prevent you from obtaining certain jobs. Failing to get a certain specialty certification can also mean a $30,000 difference in your paycheck. Pathologists have only five years and 10 tries to pass the exam, which costs between $2,100 and $2,600 each time. Re-taking the exam after getting a failing score, therefore, represents a significant financial investment—not to mention the time spent studying.”

Implications of failure can be profound, but mistakes happen. ABPath appears to be taking steps to prevent similar mistakes in the future. Hopefully, the organization will also find a way to make whole those affected by its error.

—Kristin Althea O’Connor

Related Information:

Dozens Who Were Told They Failed the Pathology Board Exam Actually Passed

Reassessment and Rescoring of ABPath Primary and Subspecialty Certification Examinations

ABPath Appeals Procedure

The Pathology Board Failed 76 Exam Takers by Mistake

UK Researchers Use Proteomics to Identify Proteins That Indicate Presence of Cancer Years before Diagnosis

Study findings could lead to new clinical laboratory screening tests that determine risk for cancer

New disease biomarkers generally lead to new clinical laboratory tests. Such may be the case in an investigational study conducted at the University of Oxford in the United Kingdom (UK). Researchers in the university’s Cancer Epidemiology Unit (CEU) have discovered certain proteins that appear to indicate the presence of cancer years before the disease is diagnosed.

The Oxford scientists “investigated associations between 1,463 plasma proteins and 19 cancers, using observational and genetic approaches in participants of the UK Biobank. They found 618 protein-cancer associations and 317 cancer biomarkers, which included 107 cases detected over seven years before the diagnosis of cancer,” News Medical reported.

To conduct their study, the scientists turned to “new multiplex proteomics techniques”  that “allow for simultaneous assessment of proteins at a high-scale, especially those that remain unexplored in the cancer risk context,” News Medical added. 

Many of these proteins were in “blood samples of people who developed cancer more than seven years before they received a diagnosis,” an Oxford Population Health news release notes.

“To be able to prevent cancer, we need to understand the factors driving the earliest stages of its development. These studies are important because they provide many new clues about the causes and biology of multiple cancers, including insights into what’s happening years before a cancer is diagnosed,” said Ruth Travis, BA, MSc, DPhil, senior molecular epidemiologist at Oxford Population Health and senior study author, in the news release.

The Oxford researchers published their findings in the journal Nature Communications titled, “Identifying Proteomic Risk Factors for Cancer Using Prospective and Exome Analyses of 1,463 Circulating Proteins and Risk of 19 Cancers in the UK Biobank.”

“We now have technology that can look at thousands of proteins across thousands of cancer cases, identifying which proteins have a role in the development of specific cancers and which may have effects that are common to multiple cancer types,” said Ruth Travis, BA, MSc, DPhil (above), senior molecular epidemiologist, Oxford Population Health, in a news release. The study findings could lead to new clinical laboratory screening tests for cancer. (Photo copyright: University of Oxford.)

Proteomics to Address Multiple Cancers Analysis 

In their published paper, the Oxford scientists acknowledged other research that identified links between blood proteins and risk for various cancers, including breast, colorectal, and prostate cancers. They saw an opportunity to use multiplex proteomics methods for the simultaneous measurement of proteins “many of which have not previously been assessed for their associations with risk across multiple cancer sites,” the researchers noted.

The researchers described “an integrated multi-omics approach” and the use of the Olink Proximity Extension Assay (PEA) to quantify 1,463 proteins in blood samples from 44,645 participants in the UK Biobank, a large biomedical database and resource to scientists.

Olink, a part of Thermo Fisher Scientific in Waltham, Mass., explains on its website that PEA technology “uniquely combines specificity and scalability to enable high-throughput, multiplex protein biomarker analysis.”

The researchers also compared proteins of people “who did and did not go on to be diagnosed with cancer” to determine differences and identify proteins that suggest cancer risk, News Medical reported.

Proteins Could Assist in Cancer Prevention

“To save more lives from cancer, we need to better understand what happens at the earliest stages of the disease. Data from thousands of people with cancer has revealed really exciting insights into how the proteins in our blood can affect our risk of cancer. Now we need to study these proteins in depth to see which ones could be reliably used for cancer prevention,” Keren Papier, PhD, senior nutritional epidemiologist at Oxford Population Health and joint lead author of the study, told News Medical.

While further studies and regulatory clearance are needed before the Oxford researchers’ approach to identifying cancer in its early stages can be used in patient care, their study highlights scientists’ growing interest in finding biomarker combinations that can predict or diagnose cancer even when it is presymptomatic. By focusing on proteins rather than DNA and RNA, researchers are turning to a source of information other than human genes.

For anatomic pathologists and clinical laboratory leaders, the Oxford study demonstrates how scientific teams are rapidly developing new knowledge about human biology and proteins that are likely to benefit patient care and diagnostics. 

—Donna Marie Pocius

Related Information:

Blood Proteins May Be Able to Predict Risk of Cancer More than Seven Years Before It Is Diagnosed

Identifying Proteomic Risk Factors for Cancer Using Prospective and Exome Analyses of 1,463 Circulating Proteins and Risk of 19 Cancers in the UK Biobank

Proteins in the Blood Could Warn People of Cancer More than Seven Years Before It Is Diagnosed

Blood Proteins Predict Caner Risk Seven Years in Advance, Studies Find

Blood Test Could Detect Cancer Up to Seven Years Earlier

UCLA Spinoff Develops AI Tool That Improves Accuracy of Prostate Cancer Assessments

Software analyzes imaging scans and clinical laboratory data to help oncologists and anatomic pathologists visualize a tumor’s extent

Anatomic pathologists understand that, along with breast cancer, diagnostic testing for prostate cancer accounts for a high volume of clinical laboratory tests. Thus, a recent study indicating that a new artificial intelligence (AI)-based software tool can dramatically improve physicians’ ability to identify the extent of these cancers will be of interest.

The software, known as Unfold AI, was developed by Avenda Health, a University of California Los Angeles (UCLA) spinoff company. Unfold AI, according to Avenda, predicts focal therapy success by an increase of 77% over standard methods.

“The study found that Unfold AI’s patient-specific encapsulation confidence score (ECS), which is generated based on multiple patient data points, including MRI scans, biopsy results, PSA [prostate-specific antigen] data, and Gleason scores, is critical for predicting treatment success,” an Avenda press release states. “These findings emphasize the importance of Unfold AI’s assessment of tumor margins in predicting treatment outcomes, surpassing the predictive capability of conventional parameters.”

“Unfold AI’s ability to identify tumor margins and provide the ECS will improve treatment recommendations and allow for less-invasive interventions,” said study co-author Wayne Brisbane, MD, a urologic oncologist and UCLA medical professor, in another press release. “This more comprehensive approach enhances our ability to predict treatment outcomes and tailor interventions effectively to individual patient needs.”

The UCLA researchers published their findings titled, “Artificial Intelligence Improves the Ability of Physicians to Identify Prostate Cancer Extent,” in The Journal of Urology. Results were also presented at the 2024 American Urological Association annual meeting.

“This study is important because it shows the ability of AI to not only replicate expert physicians, but to go beyond human ability,” said study co-author Wayne Brisbane, MD (above), a urologic oncologist and UCLA medical professor, in a press release. “By increasing the accuracy of cancer identification in the prostate, more precise and effective treatment methods can be prescribed for patients.” Clinical laboratories that work with anatomic pathologists to diagnose prostate and other cancers may soon have a new AI testing tool. (Photo copyright: UCLA.)

How Unfold AI Works

To gauge the extent of prostate tumors, surgeons typically evaluate results from multiple diagnostic methods such as PSA tests and imaging scans such as MRIs, according to a UCLA press release. However some portions of a tumor may be invisible to an MRI, causing doctors to underestimate the size.

Unfold AI, originally known as iQuest, was designed to analyze data from PSA, MRI, fusion biopsy, and pathology testing, according to a company brochure. From there, it generates a 3D map of the cancer. Avenda’s website says the technology provides a more accurate representation of the tumor’s extent than conventional methods.

“Accurately determining the extent of prostate cancer is crucial for treatment planning, as different stages may require different approaches such as active surveillance, surgery, focal therapy, radiation therapy, hormone therapy, chemotherapy, or a combination of these treatments,” Brisbane said in the UCLA press release.

Putting AI to the Test

In the new study, the UCLA researchers enlisted seven urologists and three radiologists to review 50 prostate cancer cases. Each patient had undergone prostatectomy—surgical removal of all or part of the prostate—but might have been eligible for focal therapy, a less-aggressive approach that uses heat, cryotherapy, or electric shocks to attack cancer cells more selectively.

The physicians came from five hospitals and had a wide range of clinical experience from two to 23 years, the researchers noted in The Journal of Urology.

They reviewed clinical data and examined MRI scans of each patient, then “manually drew outlines around the suspected cancerous areas, aiming to encapsulate all significant disease,” the press release states. “Then, after waiting for at least four weeks, they reexamined the same cases, this time using AI software to assist them in identifying the cancerous areas.”

The researchers analyzed the physicians’ work, evaluating the accuracy of the cancer margins and the “negative margin rate,” indicating whether the clinicians had identified all of the cancerous tissue. Using conventional approaches, “doctors only achieved a negative margin 1.6% of the time,” the press release states. “When assisted by AI the number increased to 72.8%.”

The clinicians’ accuracy was 84.7% when assisted by AI versus 67.2% to 75.9% for conventional techniques.

They also found that clinicians who used the AI software were more likely to recommend focal therapy over more aggressive forms of treatment.

“We saw the use of AI assistance made doctors both more accurate and more consistent, meaning doctors tended to agree more when using AI assistance,” said Avenda Health co-founder and CEO Shyam Natarajan, PhD, who was senior author of the study.

“These results demonstrate a marked change in how physicians will be able to diagnose and recommend treatment for prostate cancer patients,” said Natarajan in a company press release. “By increasing the confidence in which we can predict a tumor’s margins, patients and their doctors will have increased certainty that their entire tumor is treated and with the appropriate intervention in correlation to the severity of their case.”

Already Cleared by FDA

Avenda received FDA 510(k) clearance for Unfold AI in November 2022. On July 1, 2024, the American Medical Association (AMA) implemented a CPT [Current Procedural Terminology] Category III code for the software, enabling insurance reimbursement for services that employ the technology, the company said in a press release.

The AMA describes CPT Category III as “a temporary set of codes for emerging technologies, services, procedures, and service paradigms.”

In the same press release, Avenda revealed that the federal Centers for Medicare and Medicaid Services (CMS) had assigned a national payment rate for Unfold AI.

UCLA’s study found that AI can outperform doctors both in sensitivity (a higher detection rate of positive cancers) and specificity (correctly detecting the sample as negative). That’s relevant and worth watching for further developments.

Pathologists and clinical laboratory managers should consider this use of AI as one more example of how artificial intelligence can be incorporated into diagnostic tests in ways that allow medical laboratory professionals to diagnose disease earlier and more accurately. This will improve patient care because early intervention for most diseases leads to better outcomes.

—Stephen Beale

Related Information:

New Study Proves AI Enhances Physicians’ Ability to Identify Prostate Cancer Extent with 84 Percent Accuracy

New Study Demonstrates Avenda Health’s Unfold AI to Better Predict Focal Therapy Success by 77% as Compared to Standard Methods

AI Model May Yield Better Outcomes for Prostate Cancer

Artificial Intelligence Improves the Ability of Physicians to Identify Prostate Cancer Extent

Artificial Intelligence Detects Cancer with 25% Greater Accuracy than Doctors in UCLA Study

Study Finds Unfold AI Better Predicts Focal Therapy Success in Prostate Cancer Patients

First AI-Powered Precision Oncology Platform for Prostate Cancer Care, iQuest Receives FDA Clearance

American Associated Pharmacies Struck by Ransomware Attack

Clinical laboratories and anatomic pathology groups should consider these cyberattacks on major healthcare entities as reminders that they should tighten their cybersecurity protections

Hackers continue to gain access to public health records—including clinical laboratory testing data—putting thousands of patients’ protected health information (PHI) at risk of being exposed. The latest important healthcare entity to become the victim of a ransomware attack is American Associated Pharmacies (AAP). According to The Register, AAP announced a ransomware operation called Embargo had stolen over 1.4 terabytes (TB) of data, encrypted those files, and demanded $1.3 million to decrypt the data.

Embargo claims that Scottsboro, Ala.-based AAP paid $1.3 million to have its systems restored. They are now demanding an additional $1.3 million to keep the stolen data private, the HIPAA Journal reported, adding, “The attack follows ransomware attacks on Memorial Hospital and Manor, an 80-bed community hospital and 107 long-term care facility in Georgia, and Weiser Memorial Hospital, a critical access hospital in Idaho.”

AAP has not publicly confirmed the ransomware attack, nor has it made an official statement regarding the breach. But it did post an “Important Notice” on its website reporting, “limited ordering capabilities for API Warehouse have been restored at APIRx.com.”

API Warehouse is a subsidiary of AAP that helps subscribers save on brand name and generic prescriptions via wholesale purchasing plans. It oversees more than 2,000 independent pharmacies across the US and has over 2,500 stock keeping units (SKUs) in its inventory.

The message further states “All user passwords associated with both APIRx.com and RxAAP.com have been reset, so existing credentials will no longer be valid to access the sites. Please click ‘forgot password’ on the log in screen and follow the prompts accordingly to reset your password.”

“Embargo seems to have international and multi-sector victims and is not focusing on a specific victim profile. They seem opportunistic,” Mike Hamilton (above), founder and chief information security officer (CISO) of cybersecurity firm Critical Insight, told HealthcareInfoSecurity. “However, as they do have multiple victims in healthcare, and their tooling to disable detection is sophisticated, they should not be discounted. If indeed they operate through affiliates, we can expect others to use their infrastructure and tools, and Embargo may emerge as a top threat to healthcare.” Since 80% of all medical records are made up of clinical laboratory testing data, laboratory patients are particularly vulnerable. (Photo copyright: Critical Insight.)

Embargo on the Hunt for PHI

Due to the large amount of data Embargo stole from the AAP servers, it’s likely the hackers were able to procure medical records and account details from all customers of the pharmacies involved in the attack. 

Researchers at ESET, an internet security company, first noticed the ransomware organization known as Embargo in June of this year. In a news release, ESET stated that Embargo used an endpoint detection and response (EDR) killer toolkit to steal AAP’s data. 

“Based on its modus operandi, Embargo seems to be a well-resourced group. It sets up its own infrastructure to communicate with victims. Moreover, the group pressures victims into paying by using double extortion: the operators exfiltrate victims’ sensitive data and threaten to publish it on a leak site, in addition to encrypting it,” ESET wrote in a news release.

Embargo recently attacked other organizations within the healthcare industry as well. In November, it claimed responsibility for breaching the security of Memorial Hospital and Manor in Bainbridge, Ga. The cyberattack affected Memorial’s email and electronic medical record (EHR) systems, which caused the facility to pivot to a paper-based system, The Cyber Express reported. 

Embargo’s attack on Weiser Memorial Hospital in Weiser, Idaho, involved the theft of approximately 200 gigabytes (GB) of sensitive data and caused a four-week-long outage of its computer systems.  

Other Cyberattacks on Healthcare Organizations

Dark Daily has covered many cyberattacks on hospital health systems in multiple ebriefs over the past few years.

In “Cyberattack Renders Healthcare Providers across Ascension’s Hospital Network Unable to Access Medical Records Endangering Patients,” we summarized how Ascension’s inability to access medical records during the attack caused major disruptions to patient healthcare. It took more than a month for Ascension’s electronic health record system to be fully restored.

In “Change Healthcare Cyberattack Disrupts Pharmacy Order Processing for Healthcare Providers Nationwide,” Dark Daily outlined how a February cyberattack on Change Healthcare caused its parent organization UnitedHealth Group to file a Material Cybersecurity Incidents Report (form 8-K) with the US Securities and Exchange Commission (SEC) in which it stated it had “identified a suspected nation-state associated cybersecurity threat actor [that] had gained access to some of the Change Healthcare information technology systems.”

A few days later the real identity of the threat actor was revealed to be a ransomware group known as BlackCat (aka, ALPHV), according to Reuters.

And in, “Continued Cyberattacks on Hospitals, Clinical Laboratories, and Other Providers Cause Closures as Hackers Grow in Sophistication,” we reported how hospitals of all sizes continue to be prime targets for sophisticated cyberattacks, where hackers remotely disable a healthcare network’s computer systems—including its clinical laboratory information system (LIS)—and extort ransomware payments.

Safeguarding patient data is critical, and more healthcare organizations are discovering the hard way that they are vulnerable to hackers. This situation serves as another reminder to clinical laboratory and pathology group managers that they need to be proactive and serious about protecting their information systems, and in upgrading their digital security at regular intervals.

Hackers are working hard to obtain access to protected health information, which puts patients at continuous risk of having their private records stolen.

—JP Schlingman

Related Information:

Ransomware Fiends Boast They’ve Stolen 1.4TB from US Pharmacy Network

Another Major US Healthcare Organization Has Been Hacked, with Potentially Major Consequences

Gang Shaking Down Pharmacy Group for Second Ransom Payment

US Pharmacy Network Loses 1.4 Terabytes of Data to Boasting Hackers

New Ransomware Group Embargo Uses Toolkit That Disables Security Solutions, ESET Research Discovers

Embargo Ransomware Group Claims Attack on American Associated Pharmacies

American Associated Pharmacies Resets All User Passwords after Ransomware Gang Claims Responsibility for Cyberattack

Ransomware Attack Disrupts Memorial Hospital’s EHR System, Temporarily Slows Operations

Weiser Memorial Hospital Investigating Cyberattack

Hospital Deals with IT Outage for 4 Weeks

Healthcare Cyberattacks at Two Hospitals Prompt Tough Decisions as Their Clinical Laboratories Are Forced to Switch to Paper Documentation

Three Federal Agencies Warn Healthcare Providers of Pending Ransomware Attacks; Clinical Laboratories Advised to Assess Their Cyberdefenses

South Korean Researchers Develop Clinical Laboratory Test That Diagnoses Sepsis Faster than Traditional Tests

Diagnostic test incorporates artificial intelligence and could shorten the time clinical laboratories need to determine patients’ risk for antimicrobial resistance

Sepsis continues to be a major killer in hospitals worldwide. Defeating it requires early diagnosis, including antimicrobial susceptibility testing (AST), and timely administration of antibiotics. Now, in a pilot study, scientists at Seoul National University in South Korea have developed a new clinical laboratory test that uses artificial intelligence (AI) to pinpoint the condition sooner, enabling faster treatment of the deadly bacterial infection.

Sepsis, also known as septicemia or blood poisoning, is a serious medical condition that occurs when the body overreacts to an infection or injury. This often takes place in hospitals through blood-line infections and exposure to deadly bacteria. The dangerous reaction causes extensive inflammation throughout the body. If not treated early, sepsis can lead to organ failure, tissue damage, and even death.

Research teams around the world are creating new technologies and approaches to slash time to answer from when blood specimen is collected to a report of whether the patient is or is not positive for sepsis. The Seoul National University scientists’ new approach is yet another sign for microbiologists and clinical laboratory managers of the priority test developers are giving to solving the problem of diagnosing sepsis faster than using blood culture methodology, which requires several days of incubation.

The Seoul scientists published their findings in the journal Nature titled, “Blood Culture-free Ultra-rapid Antimicrobial Susceptibility Testing.”

“Sepsis strikes over 40 million people worldwide each year, with a mortality rate ranging from 20% to 50%,” said Sunghoon Kwon, PhD (above), professor of electrical and computer engineering at Seoul National University and senior author of the study, in an interview with The Times in the UK. “This high mortality rate leads to over 10 million deaths annually. Thus, accurate and prompt antibiotic prescription is essential for treatment,” he added. Clinical laboratories play a critical role in the testing and diagnosis of sepsis. (Photo copyright: Seoul National University.)

Reducing Time to Diagnosis

Seoul National University’s approach begins with drawing a sample of the patient’s blood. The researchers then attach special peptide molecules to magnetic nanoparticles and add those nanoparticles to the blood sample. The particles bind to the harmful pathogens in the blood.

The harmful bacteria are then collected using magnets. Their DNA is extracted, amplified, and analyzed to establish the type of microbes that are present in the sample.

The pathogens are exposed to antibiotics and an AI algorithm evaluates their growth patterns to forecast what treatments would be most beneficial to the patient. This last step is known as antimicrobial susceptibility testing or AST. 

“The principle is simple,” said Sunghoon Kwon, PhD, professor of electrical and computer engineering at Seoul National University and senior author of the study, in a Nature podcast. “We have a magnetic nanoparticle. The surface of the magnetic nanoparticle we coat in a peptide that can capture the bacteria.”

Kwon is the CEO of Quantamatrix, the developer of the test. 

The complete process can be performed on one machine and results are available in about 12 hours, which reduces typical AST time by 30 to 40 hours when compared to traditional processes. 

“Sepsis progresses very quickly, with the survival rate dropping with each passing hour,” Kwon told The Times UK. “Every minute is crucial.”

Preventing Antimicrobial Resistance

The team assessed the performance of their test on 190 hospital patients who had a suspected sepsis infection. The test achieved a 100% match in the identification of a bacterial species. The test also achieved an efficiency of 96.2% for capturing Escherichia coli (E. coli) and 91.5% for capturing Staphylococcus aureus.

“Treatment assessment and patient outcome for sepsis depend predominantly on the timely administration of appropriate antibiotics,” the authors wrote in Nature.

“However,” they added, “the clinical protocols used to stratify and select patient-specific optimal therapy are extremely slow,” due to existing blood culture procedures that may take two or three days to complete.

“The microbial load in patient blood is extremely low, ranging between 1 and 100 colony-forming units (CFU) ml−1 and is vastly outnumbered by blood cells,” the study authors explained. “Due to this disparity, prior steps—including blood culture (BC) to amplify the number of pathogens followed by pure culture to subculture purified colonies of isolates—have been essential for subsequent pathogen species identification (ID) and AST.”

Further research, studies and regulatory approval are needed before this technique becomes available, but the South Korean scientists believe it could be ready for use within two to three years. They also state their test can help prevent antimicrobial resistance (AMR) and bolster the strength of existing antibiotics. 

Previous Studies

The Seoul National University study is just the latest effort by scientists to develop faster methods for clinical laboratory testing and diagnosing of sepsis.

 In September, Dark Daily reported on a similar test that uses digital imaging and AI to determine sepsis risk for emergency room patients.

That ebrief, titled, “10-Minute Blood Test Uses Digital Images and AI to Determine Sepsis Risk for Emergency Room Patients,” outlined how a tool called IntelliSep, which was created through a partnership between San Francisco-based medical diagnostics company Cytovale and the Louisiana State University Health Sciences Center (LSUHSC) in Baton Rouge, can spot biomarkers for sepsis within 10 minutes.

According to the Centers for Disease Control and Prevention (CDC), at least 1.7 million adults develop sepsis annually in the US, and that at least 350,000 die as a result of the condition. CDC also lists sepsis as one of the main reasons people are readmitted to hospitals.

Microbiologists and clinical laboratory managers should be aware that scientists are prioritizing the creation of new testing methods for faster detection of sepsis. Various research teams around the world are devising technologies and approaches to reduce the time needed to diagnose sepsis to improve patient outcomes and save lives. 

—JP Schlingman

Related Information:

Scientists Say They Developed Faster Way to Diagnose, Treat Sepsis

Rapid Sepsis Test Identifies Bacteria That Spark Life-threatening Infection

We May Soon Have a Faster Test for Sepsis: Study Demonstrates Ultra-rapid Antimicrobial Susceptibility Testing Method

“Game-changing” Sepsis Test Could Save Thousands of Lives

10-Minute Blood Test Uses Digital Images and AI to Determine Sepsis Risk for Emergency Room Patients

Ask a Specialist: Sepsis

Blood Culture-free Ultra-rapid Antimicrobial Susceptibility Testing

Mayo Clinic Researchers Uses Exome Sequencing to Identify Individuals at Risk of Hereditary Cancer

Half of the people tested were unaware of their genetic risk for contracting the disease

Existing clinical laboratory genetic screening guidelines may be inadequate when it comes to finding people at risk of hereditary breast-ovarian cancer syndromes and Lynch syndrome (aka, hereditary nonpolyposis colorectal cancer). That’s according to a study conducted at the Mayo Clinic in Rochester, Minn., which found that about half of the study participants were unaware of their genetic predisposition to the diseases.

Mayo found that 550 people who participated in the study (1.24%) were “carriers of the hereditary mutations.” The researchers also determined that half of those people were unaware they had a genetic risk of cancer, and 40% did not meet genetic testing guidelines, according to a Mayo Clinic news story.

The discoveries were made following exome sequencing, which the Mayo Clinic news story described as the “protein-coding regions of genes” and the sites for most disease-causing mutations.

“Early detection of genetic markers for these conditions can lead to proactive screenings and targeted therapies, potentially saving lives of people and their family members,” said lead author Niloy Jewel Samadder, MD, gastroenterologist and cancer geneticist at Mayo Clinic’s Center for Individualized Medicine and Comprehensive Cancer Center.

The Mayo researchers published their findings in the journal JCO Precision Oncology titled, “Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations.”

“This study is a wake-up call, showing us that current national guidelines for genetic screenings are missing too many people at high risk of cancer,” said lead author Niloy Jewel Samadder, MD (above), gastroenterologist and cancer geneticist at Mayo Clinic’s Center for Individualized Medicine and Comprehensive Cancer Center. New screening guidelines may increase the role of clinical laboratories in helping physicians identify patients at risk of certain hereditary cancers. (Photo copyright: Mayo Clinic.)

Advancing Personalized Medicine

“The goals of this study were to determine whether germline genetic screening using exome sequencing could be used to efficiently identify carriers of HBOC (hereditary breast and ovarian cancer) and LS (Lynch syndrome),” the authors wrote in JCO Precision Oncology.

Their work was a project of the Mayo Clinic Center for Individualized Medicine Tapestry study, which aims at advancing personalized medicine and developing a dataset for genetic research.

For the current study, Helix, a San Mateo, Calif. population genomics company, collaborated with Mayo Clinic to perform exome sequencing on the following genes:

According to the Mayo Clinic:

  • BRCA1 can lead to a 50% chance of breast cancer, and a 40% chance of ovarian cancer, respectively, as well as other cancers.
  • BRCA2 mutations suggest risk of breast cancer and ovarian cancer is 50% and 20%, respectively.
  • Lynch syndrome relates to an 80% lifetime risk of developing colorectal cancer and 50% risk of uterine and endometrial cancer.

Mayo/Helix researchers performed genetic screenings on more than 44,000 study participants. According to their published study, of the 550 people who were found to have hereditary breast cancer or Lynch syndrome:

  • 387 had hereditary breast and ovarian cancer (27.2% BRCA1, 42.8% BRCA2).
  • 163 had lynch syndrome (12.3% MSH6, 8.8% PMS2, 4.5% MLH1, 3.8% MSH2, and 0.2% EPCAM).
  • 52.1% were newly diagnosed carriers.
  • 39.2% of the 550 carriers did not meet genetic evaluation criteria set by the National Comprehensive Cancer Network (NCCN).
  • Participants recruited by researchers hailed from Rochester, Minn.; Phoenix, Ariz.; and Jacksonville, Fla.
  • Minorities were less likely to meet the NCCN criteria than those who reported as White (51.5% as compared to 37.5%).

“Our results emphasize the importance of expanding genetic screening to identify people at risk for these cancer predisposition syndromes,” Samadder said.

Exome Data in EHRs  

Exomes of more than 100,000 Mayo Clinic patients have been sequenced and the results are being included in the patients’ electronic health records (EHR) as part of the Tapestry project. This gives clinicians access to patient information in the EHRs so that the right tests can be ordered at the right time, Mayo Clinic noted in its article.

“Embedding genomic data into the patient’s chart in a way that is easy to locate and access will assist doctors in making important decisions and advance the future of genomically informed medicine.” said Cherisse Marcou, PhD, co-director and vice chair of information technology and bioinformatics in Mayo’s Clinical Genomics laboratory.

While more research is needed, Mayo Clinic’s accomplishments suggest advancements in gene sequencing and technologies are making way for data-driven tools to aid physicians.

As the cost of gene sequencing continue to fall due to improvement in the technologies, more screenings for health risk factors in individuals will likely become economically feasible. This may increase the role medical laboratories play in helping doctors use exomes and whole genome sequencing to screen patients for risk of specific cancers and health conditions.

—Donna Marie Pocius

Related Information:

Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendation

Mayo Clinic Uncovers Genetic Cancer Risk in 550 Patients

Mayo Clinic’s Data-Driven Quest to Advance Individualized Medicine

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