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Clinical Laboratories and Pathology Groups

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News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

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As Accreditation Inspections of Clinical Laboratories Become Tougher, Innovative Labs Use Internal Audits and Continuous Quality Improvements to Help Prevent Deficiencies

Savvy medical laboratory managers conduct internal audits of processes involved in deficiency citations so they can uncover how deficiencies occur and help eliminate recurrences

One trend that places clinical laboratories at risk involves increased regulation of lab processes, along with more thorough accreditation inspections. Compared to past years, both developments mean more ways for lab assessors to find greater numbers of deficiencies.

However, leading laboratory accreditation and quality improvement experts say that many deficiencies could be avoided if lab leaders conducted their own internal audits and continuous quality improvement projects ahead of visits by accrediting authorities.

In an exclusive interview with Dark Daily, Randall Querry, Director of Government Relations at the American Association for Laboratory Accreditation (A2LA) said, “Clinical laboratories can do a better job of preparing for the external assessment by doing an internal audit. That is, watching personnel perform tests and noting if they aren’t following the same sequences that standard operating procedures address before the external assessors arrive.”

A2LA is one of the primary accrediting bodies with authority from the Centers for Medicare and Medicaid Services (CMS) to accredit medical laboratories relative to Clinical Laboratory Improvement Amendments (CLIA). Others include:

“This doesn’t have to be an ‘us against them’ exercise. We are all in this together for continual improvement and to ensure we’re doing a better job at the end of each day—that we have had a win,” said Querry said. 

How Should Clinical Laboratories Conduct Internal Audits?

So, what is the best method for clinical laboratory leaders to conduct their own audits of operations and avoid citations of deficiencies?

Lucia Berte, President of Laboratories Made Better, suggested medical laboratories should “Pick a sequence and follow it through.” In the Dark Daily interview, she suggested labs should focus on:

  • The sequence of receiving samples in the laboratory to make certain they are properly accessioned, processed, and distributed;
  • Steps to setting up and running an analyzer; and
  • The process of ensuring tests’ critical values are reported to ordering clinicians and how reports are made.

An internal audit may suggest areas where the clinical lab is not on target to meet regulatory and accreditation criteria. Or, the lab may discover what Querry calls “gray areas”—places where criteria are currently being met, but a trend suggests there could be problems down the road.

“And in those cases, it’s always good to identify areas of improvement for preventative action. They may not be a top priority—such as a deficiency—but the areas are on the radar screen as something to address to prevent it becoming a worsening problem,” Querry said.

Quality Improvement Processes to Address Deficiencies

Berte notes that citations in one area of the lab may suggest the need for continuous improvement projects across all laboratory departments or sections. For example, an accrediting body may cite chemistry for a deficiency while hematology and other departments do okay. However, that determination can be deceiving. 

“There is always an underlying process. And the better question for the clinical laboratory is ‘can we make an improvement project out of this that can solve this problem not only for the area where it was cited, but perhaps prevent this problem from occurring in other lab [departments] prior to the next external accreditation assessments?’” Berte said.

Lack of Uniformity among a Clinical Laboratory’s Departments

Berte says a common deficiency is “lack of a uniform competency assessment program” for staff throughout the lab. Assessors expect laboratory departments to have the same competency assessment in regard to processes, records, and the way documents are created, she explained.

Lucia Berte (above), President of Laboratories Made Better, advises improving quality of documents as a project across the entire lab. “We still have a lot of silo-mentality in labs—where chemistry is different from hematology which is different from transfusion. Labs should have a uniform approach to the way their documents are written, and this is not necessarily the case,” she told Dark Daily. (Photo copyright: Whitehat Communications.)

Competency-related Citations

Berte also said competency-related citations may happen when documents read by auditors are not in sync with what the officials see in the clinical lab during inspections. “People not doing things in the order in which things have to happen. That’s the disconnect.”

Querry, speaking from the perspective of an assessor, adds, “We see a discrepancy and ask—do they have the appropriate work procedures with them at the workstation? Is it accessible? Where is this discrepancy? We identify it and then it’s up to the lab to address it—in training, and between the written procedure and the process.”

Consistency, he says, is important especially in organizations where staff rotate among lab areas and different shifts.

Quality System Essentials for Clinical Laboratories

The website for the Clinical and Laboratory Standards Institute (CLIA) states that implementing a quality management system in the lab involves use of “quality system essentials (QSEs).” QSEs are key to lab workflow, communication, and training. They include documents and records management, assessments, and continual improvement.

Querry emphasizes that trying to predict what the hot citations may be in 2020 is not as important as focusing on the technical competence of the lab and its resources.

“We are not out to play gotcha. We are going in there, looking at all the systems, and doing a sampling of testing in various departments of the lab. It’s up to the lab to show us it is technically competent to perform those tests. And they have the equipment and records that the equipment has been checked and calibrated and maintained. We have an examination process,” he said.

Experts agree, clinical laboratories that prepare for external assessments with internal audits and continuous improvement programs may reduce deficiencies during inspections.

—Donna Marie Pocius

Related Information:

Top Laboratory Deficiencies Across Accreditation Agencies

Implementing a Quality Management System in the Laboratory

Lab Quality Confab hosted by The Dark Report

25th Annual Executive War College on lab and pathology management April 28 – 29, 2020

Skeptical Missouri Pathologist Played a Key Role in Wall Street Journal Reporter John Carreyrou’s Expose´ Of Medical Lab Test Company Theranos

Fawning media coverage Theranos’ blood-test claims ended once experts spoke out, showing the importance of strong relationships between pathologist and journalists

Wall Street Journal (WSJ) reporter John Carreyrou’s investigation into former Silicon Valley darling Theranos is credited with turning the spotlight on the blood-testing company’s claims and questionable technology. However, Carreyrou’s investigation may never have happened without the assistance of Missouri pathologist Adam Clapper, MD, who tipped off the reporter to growing skepticism about Theranos’ finger-stick blood testing device.

Clapper’s involvement in Theranos’ fall from grace provides a lesson on why anatomic pathologists, clinical pathologists, and other medical laboratory leaders should cultivate strong working relationships with healthcare journalists who seek out expert sources when covering lab-related issues.

Dark Daily has written extensively about Theranos—once valued at nine billion dollars—and its founder and former CEO Elizabeth Holmes, whose criminal trial on nine counts of wire fraud and two counts of conspiracy to commit wire fraud is scheduled to begin this summer, noted the WSJ.

In 2018, Holmes and former Theranos President Ramesh “Sunny” Balwani settled a civil case with the Securities and Exchange Commission (SEC). Holmes agreed to pay a $500,000 penalty and relinquished control of Theranos. She also was barred from serving as Director of a public company for 10 years.

Theranos Investigation Would Not Have Occurred without Clapper

Holmes founded Theranos in 2003 when she was 19 years old. By 2013, Holmes had become a media sensation based on her claims that Theranos had developed a medical technology that could run thousands of clinical laboratory tests using the blood from a tiny finger-prick. And, she claimed, it could do so quickly and cheaply.

By 2015, Carreyrou’s exposé in theWall Street Journal revealed Theranos’ massive deceptions and questionable practices. His series of stories kickstarted the company’s downfall. However, Carreyrou acknowledges his investigation would not have occurred if it were not for pathologist Clapper.

“Without Adam Clapper, I am almost 100% sure that I wouldn’t have done anything,” Carreyrou told the Missourian. “It was the combination of him calling me and telling me what he had found out and how he felt and my feelings about the New Yorker story that really got me on the call of this scandal,” he said.

Anatomic and clinical pathologist Adam Clapper, MD (above), became skeptical about Holmes’ claims after reading a profile on her in The New Yorker. In December 2014, Clapper ended a post on his now defunct Pathology Blawg by saying, “Until proven otherwise, I’m going to be skeptical of Theranos’ claims.” That comment became a starting point for Carreyrou’s later investigation into Theranos. (Photo copyright: Missourian.)

According to the Missourian, Clapper turned to Carreyrou because the reporter had impressed him as “very fact-oriented and fact-driven” during telephone interviews for a series Carreyrou had written the year prior on Medicare fraud.

“I could hear his wheels spinning in his head as we were talking the first time, then he definitely sounded interested and intrigued,” Clapper told the Missourian. “And then I could tell he was even more so because very soon thereafter—like half an hour after that initial conversation—he’d already started to do some research into Theranos.”

Ten months later, the WSJ published Carreyrou’s first installment of his series on Theranos.

“The fact that this tip originated from a guy in Columbia, Missouri, thousands of miles from Silicon Valley—who never spoke to Elizabeth Holmes, who had no connection to the company or even to Silicon Valley other than he read about her claims in a magazine and knew a lot about this by virtue of being a pathologist—tells you that the people who put in all the money in [Theranos] didn’t spend enough time talking to experts and asking them what was feasible and what wasn’t,” said Carreyrou.

Benjamin Mazer, MD (above), an anatomic and clinical pathology resident in pathology and lab medicine at Yale New Haven Hospital, argues pathologists’ voices were noticeably—and critically—absent from media coverage during Theranos’ decade-long ascension. “For many of us in the pathology community, the writing was on the wall long before Carreyrou’s article was published,” he wrote in Health News Review. “Had journalists consulted pathologists as expert sources, the news coverage of Theranos might have been less fawning and more skeptical. Patients might have been spared erroneous tests.” (Photo copyright: Yale University.)

The lawyers defending Holmes against criminal fraud charges are contending Carreyrou “went beyond reporting the Theranos story” by prodding sources to contact federal regulators about the company’s alleged frauds and “possibly biased the agencies’ findings against [Theranos],” Bloomberg News reported.

The Wall Street Journal, however, stands behind Carreyrou’s reporting, which later was published as book, titled, “Bad Blood: Secrets and Lies in a Silicon Valley Startup.”

Carreyrou told New York Magazine he doesn’t blame reporters for hyping Holmes and the technology she touted.

“You could make a case that maybe they should have done more reporting beyond interviewing her and her immediate entourage,” he said. “But how much is a writer/reporter to blame when the subject is bald-face lying to him, too?”

Nonetheless, the Theranos scandal offers a lesson to pathologists and clinical laboratory professionals in the importance of building good working relationships with healthcare journalists who not only must accurately report on healthcare breakthroughs and developments, but also need someone they can trust for an unbiased opinion.

—Andrea Downing Peck

Related Information:

Blood, Fraud and Money Led to CEO’s Fall from Grace

Theranos Founder Elizabeth Holmes to Face Trial Next Year on Fraud Charges

Theranos, CEO Holmes, and Former President Balwani Charged with Massive Fraud

Hot Startup Theranos Struggled with Its Blood Test Technology

The Pathologist and ‘The Inventor’: How a Columbia Doctor Helped Take Down Theranos

Blood Simpler

Elizabeth Holmes Blames Journalist for Theranos Troubles

Pathologists Predicted the Theranos Debacle, but their Voices Were Missing from Most News Coverage

The Reporter Who Took Down a Unicorn

Yale Study Finds Obtaining Personal Medical Records from Hospitals Can Be Difficult for Many Patients

The researchers also found unnecessarily confusing policies and procedures for requesting medical records, such as clinical laboratory test results

Clinical laboratories and anatomic pathology groups looking for ways to improve their customers’ experience should give high priority to ensuring patients have easy, accurate access to their own health records. This would, apparently, set them apart from many hospital health networks if a recent study conducted by Yale University School of Medicine is any indication.

Conducting their research from August 1 through December 7, 2017, Yale researchers evaluated the medical records processing policies of 83 top-ranked hospitals located across 29 states. They found that patients attempting to obtain copies of their own medical records from various hospitals often faced unnecessary and confusing hurdles. They also found serious noncompliance issues with regards to the Health Insurance Portability and Accountability Act of 1996 (HIPAA).

The Yale researchers published their full report in JAMA Network Open, a general medical journal published by the Journal of the American Medical Association (JAMA).

Overwhelming Inconsistencies in Policies and Procedures

“There were overwhelming inconsistencies in information relayed to patients regarding the personal health information [PHI] they are allowed to request, as well as the formats and costs of release, both within institutions and across institutions,” said Carolyn Lye, a medical student at the Yale School of Medicine and first author of the study, in a Yale News article. “We also found considerable noncompliance with state and federal regulations and recommendations with respect to the costs and processing times associated with providing access to medical records.”


“Stricter enforcement of the patients’ right of access under HIPAA is necessary to ensure that the medical records request process across hospitals is easy to navigate, timely, and affordable,” study first author Carolyn Lye (above), told Yale News. “We are also in an era in which patients are participants in their own healthcare. Inhibiting access for patients to their own medical records with complicated, lengthy, and costly request processes prevents patients from obtaining information that they may need to better understand their medical conditions and communicate with their physicians.” (Photo copyright: Twitter.)

The researchers collected release authorization forms from the hospitals by calling each hospital’s medical records department. During the simulated patient experience, they questioned the hospital policies regarding:

  • Requestable information (including entire medical records, medical laboratory test results, medical history, discharge summaries, physician orders, consultation reports);
  • Available release formats (pick up in person, mail, fax, e-mail, CD, online patient portal);
  • Costs associated with obtaining the records; and,
  • Processing times.

The team found inconsistencies between information provided on written authorization forms and the simulated patient telephone calls, as well as a lack of transparency.

On the paper forms, only 44 hospitals (53%) had an option for patients to acquire their entire medical record. However, on the telephone calls, all 83 of the surveyed hospitals provided that option.

The researchers also discovered discrepancies in the information regarding the formats available for patient records. For example, 69 (83%) of the hospitals stated during the phone calls that patients could pick up their records in person, while only 40 (48%) of the hospitals said patients could do so on the written release forms. Fifty-five (66%) of the hospitals told callers that medical records were available on CD and only 35 (42%) of the hospitals provided that option on the written forms.

Similar discrepancies between information provided in phone calls versus paper authorization forms were found relating to other formats included in the study as well.

Excessive Fees Exceed Federal Recommendations

Hospitals are allowed to charge a modest fee for the release of medical records. But the researchers found quoted costs varied widely among surveyed hospitals.

On the written authorization forms, only 29 (35%) of the hospitals disclosed the exact costs associated with obtaining medical records. The costs for a hypothetical 200-page record from these hospitals ranged from $0.00 to $281.54. During the phone calls, 82 of the hospitals disclosed their fees, with quotes for obtaining a 200-page record ranging from $0.00 to $541.50.

The federal government, however, recommends charging patients a flat fee of $6.50 to obtain electronically maintained medical records. Forty-eight (59%) of the hospitals surveyed exceeded that charge.

Access Times Also Vary

The time hospitals needed to release patients’ medical records also varied, ranging from same-day to 60 days—with electronic data tending to be delivered fastest. Federal regulations require medical records to be released within 30 days of the initial request, though HIPAA provides for an additional 30-day extension. However, six of the 81 hospitals that provided turn-around times to medical records requests were noncompliant with federal processing time requirements. 

Congress passed HIPAA primarily to modernize the flow of healthcare information. An important part of the Act was to make it easier for patients to receive their medical records and clinical data from hospitals, medical offices, clinical laboratories, etc. The Yale study, however, indicates that obtaining medical records can still be a cumbersome and perplexing process for patients.

The United States Government has spent upwards of $30 billion since 2010 in incentives to encourage hospitals and physicians to implement and use electronic health record (EHR) systems. One goal of issuing these incentives was to make it easy and inexpensive to move patient data between providers to support improved clinical care, as reported by the Commonwealth Fund.

This research demonstrates that the internal policies of some hospitals and health systems are contrary to federal and state laws because patients are often struggling to gain access to their own medical records. The results of the Yale study present an opportunity for clinical laboratories and pathology groups to adopt and offer patient-friendly access to obtain lab test data.

—JP Schlingman

Related Information:

Hospitals Are Roadblocks to Patient EHR Data Requests, Despite HIPAA

Assessment of US Hospital Compliance with Regulations for Patients’ Requests for Medical Records

American Hospitals Make It Too Hard for Patients to Access Medical Records

The Federal Government Has Put Billions into Promoting Electronic Health Record Use: How Is It Going?

Sorting through EHR Interoperability: A Modern Day Tower of Babel That Corrects Problems for Clinical Laboratories, Other Providers

Microbiologists Take Note! UPenn Study Using Next-Generation Sequencing Finds Stethoscopes Harbor Vast Amounts of Bacteria, Including Staphylococcus Aureus, Which Causes Deadly Hospital-Acquired Infections

Researchers also found Staph and other bacteria on stethoscopes after they had been cleaned, leading to scrutiny of cleaning agents and methods

Microbiologists, anatomic pathologists, and clinical laboratory leaders should be intrigued by a university study which found stethoscopes worn by caregivers contained vast amounts of bacteria, including Staphylococcus aureus (Staph), a major cause of hospital-acquired infections (HAIs).

Using next-generation DNA sequencing, University of Pennsylvania Perelman School of Medicine researchers found the deadly bacteria on stethoscopes stored and used in, of all places, an intensive care unit (ICU), where patients are particularly vulnerable to infection.

Even more compelling was the discovery of DNA from the Staph bacteria on the stethoscopes even after they were cleaned. Though the tests could not differentiate between live and dead bacteria, the researchers found other non-Staph bacteria as well, including Pseudomonas and Acinetobacter.

Similar conditions could no doubt be found in most healthcare settings in America, highlighting the critical importance for rigorous cleaning procedures and protocols.

The researchers published their paper in Infection Control and Hospital Epidemiology, the journal of the Society for Healthcare Epidemiology of America (SHEA).

Deadly Bacteria Becoming Harder to Kill

HAIs are becoming increasingly difficult to prevent partly because Staph bacteria, such as Methicillin-resistant Staphylococcus aureus (MRSA), are becoming increasingly resistant to antibiotics, according to the Centers for Disease Control and Prevention (CDC).


“The study underscores the importance of adhering to rigorous infection control procedures, including fully adhering to CDC-recommended decontamination procedures between patients, or using single-patient use stethoscopes kept in each patient’s room,” said Ronald Collman, MD (above), the study’s senior author and Professor of Medicine, Pulmonary, Allergy, and Critical Care at UPenn’s Perelman School of Medicine, in a news release. (Photo copyright: Penn Medicine.)

The researchers acknowledged that previous culture-based bacterial studies looked at stethoscopes, but noted the results fell short of the view next-generation sequencing technology can offer for identifying bacteria, as well as determining the effectiveness of cleaning chemicals and regiments.

“Culture-based studies, which focus on individual organisms, have implicated stethoscopes as potential vectors of nosocomial bacterial transmission [HAI]. However, the full bacterial communities that contaminate in-use stethoscopes have not been investigated,” they wrote in Infection Control and Hospital Epidemiology.

Study Employs RNA Deep-Sequencing

The UPenn researchers used bacterial 16 ribosomal RNA (16S rRNA gene) deep-sequencing to study the bacteria, Becker’s Healthcare explained.

The stethoscopes analyzed were in-use as follows:

• 20 worn by physicians, nurses, and respiratory therapists;

• 20 single patient-use disposable stethoscopes available in ICU patient rooms; and,

• 10 unused single-use disposable stethoscopes to serve as a control.

All stethoscopes worn and/or used in the ICU were found to be contaminated with abundant amounts of Staphylococcus DNA. “Definitive” amounts of Staph was found by researchers on 24 of 40 tested devices, noted MedPage Today.

“Genera relevant to healthcare-associated infections (HAIs) were common on practitioner stethoscopes, among which Staphylococcus was ubiquitous and had the highest relative abundance (6.8% to 14% of containment bacterial sequences),” the researchers noted in their paper.

Cleaning Methods Also Examined

The researchers also studied the hospital’s cleaning agents and procedures:

• 10 practitioner stethoscopes were examined before and after a standard 60-second cleaning procedure using hydrogen peroxide wipes;

• 20 additional stethoscopes were assessed before and after cleaning by practitioners using alcohol wipes, hydrogen peroxide wipes, or bleach wipes.

All methods reduced bacteria. But not to the levels of a new stethoscope, the study showed.

“Stethoscopes used in an ICU carry bacterial DNA reflecting complex microbial communities that include nosocomially important taxa. Commonly used cleaning practices reduce contamination but are only partially successful at modifying or eliminating these communities,” the researchers concluded in their paper.

Prior Studies to Find and Track Dangerous Bacteria

Studies tracking bacteria where people live, work, and travel are not new. For years, medical technologists and microbiologists have roamed the halls of hospitals and other clinical settings to swab and culture different surfaces and even articles of clothing. These efforts are often associated with programs to reduce nosocomial infections (HAIs).

One such study revealed that about 47% of neckties worn by clinicians carried HAIs, according to a New York Hospital Medical Center (now New York-Presbyterian Queens) study. Dark Daily reported on this finding 10 years ago. (See, “Antibiotic Neckties Are Latest Healthcare Fashion Trend,” May 25, 2007.)

And, on a larger scale, in 2013, researchers at Weill Cornell Medical College in New York City (NYC) used next-generation gene sequencing to track pathogens in the NYC subway system. The project, called PathoMap, involved collecting 1,404 surface samples from 468 NYC subway stations to develop a system for spotting and tracking potential microbial threat due to bioterrorism or emergent disease. (See, “Microbiologists at Weill Cornell Use Next-Generation Gene Sequencing to Map the Microbiome of New York City Subways,” December 13, 2013.)

This new study by UPenn Perelman School of Medicine researchers—published in a peer-reviewed medical journal—will hopefully serve as a contemporary reminder to doctors and other caregivers of how bacteria can be transmitted and the critical importance of cleanliness, not only of hands, but also stethoscopes (and neckties).  

Hospital-based medical laboratory leaders and microbiology professionals also can help by joining with their infection control colleagues to advocate for CDC-recommended disinfection and sterilization guidelines throughout their healthcare networks.

—Donna Marie Pocius

Related Information:

Molecular Analysis of Bacterial Contamination on Stethoscopes in an Intensive Care Unit

Stethoscopes Loaded with Bacteria, Including Staphylococcus

ICU Stethoscopes Teeming with Bacteria

Bacteria Remains After Cleaning Stethoscopes: Four Study Insights

Predictors of Heavy Stethoscope Contamination Following a Personal Examination

Centers for Disease Control and Prevention: Guidelines for Disinfection of Healthcare Equipment

Antibiotic Neckties are Latest Healthcare Fashion TrendMicrobiologists at Weill Cornell Use Next-Generation Gene Sequencing to Map the Microbiome of New York City Subways

FDA Authorizes 23andMe to Report Results of Direct-to-Consumer Pharmacogenetics Test to Customers without a Prescription, Bypassing Doctors and Clinical Laboratories

FDA cautions patients to not use data gained from the DTC test to make healthcare decisions on their own

Clinical laboratories continue to be impacted by the growing direct-to-consumer (DTC) testing market, as more walk-in lab customers order at-home tests. Now, the US Food and Drug Administration (FDA) has authorized a DTC test company to provide results of a pharmacogenetic (PGx) test to customers without needing a doctor’s order. This is the first genetic test of its kind to receive such FDA authorization and is in line with the government’s focus on precision medicine.

23andMe gained the authorization through the FDA’s de novo classification process, which the FDA uses to classify new devices that have no existing classification or comparabledevice on the market. 

“We’ve continued to innovate through the FDA and pioneer safe, effective pathways for consumers to directly access genetic health information,” said Anne Wojcicki, co-founder and CEO of 23andMe, in a news release. “Pharmacogenetic reports are an important category of information for consumers to get access to, and I believe this authorization opens the door for consumers to work with their health providers to better manage their medications.”

However, some experts caution that informing patients directly on how they metabolize medications based on genetic testing could encourage them to bypass physicians and medical laboratories in the decision-making process.

In a safety communication, the FDA alerted patients and healthcare providers that “claims for many genetic tests to predict a patient’s response to specific medications have not been reviewed by the FDA and may not have the scientific or clinical evidence to support this use for most medications. Changing drug treatment based on the results from such a genetic test could lead to inappropriate treatment decisions and potentially serious health consequences for the patient.”


Tim Stenzel, MD, PhD (above), Director, Office of In Vitro Diagnostics and Radiological Health at the FDA, told FierceBiotech, “This test should be used appropriately because it does not determine whether a medication is appropriate for a patient, does not provide medical advice, and does not diagnose any health conditions. Consumers should not use this test to make treatment decisions on their own.” (Photo copyright: LinkedIn.)

PGx Supports Precision Medicine

Pharmacogenetics (PGx) is the study of how genetic differences among individuals cause varied responses to certain drugs. Demand for PGx testing has increased exponentially as it becomes more valuable to consumers. It could provide a path to precision medicine treatment plans based on each patient’s genetic traits. And help determine which drug therapies and dosages may be optimal and which medicines should be avoided.  

“This test is a step forward in making information about genetic variants available directly to consumers and better inform their discussions with their healthcare providers,” Stenzel told FierceBiotech. “We know that consumers are increasingly interested in genetic information to help make decisions about their healthcare.”

The genes and their variants examined in the 23andMe PGx test are:

  • CYP2C19 *2, *3, *17;
  • CYP2C9 *2, *3, *5, *6, rs7089580;
  • CYP3A5 *3;
  • UGT1A1 *6, *28;
  • DPYD *2A, rs67376798;
  • TPMT *2, *3C;
  • SLCO1B1 *5; and,
  • CYP2D6 *2, *3, *4, *5, *6, *7, *8, *9, *10, *11, *15, *17, *20, *29, *35, *40, *41.

Hospitals Bring PGx Testing to Primary Care

Innovative hospital and health networks also are starting to make PGx tests available in primary care settings.

Sanford Imagenetics, part of the Sanford Health system, has produced a $49 laboratory-developed test (LDT) for genetic screening known as the Sanford Chip to help physicians select the most advantageous therapies for their patients. It uses a small amount of blood to identify patients’ risk for certain genetic diseases and determine which medications would be best for them. 

Sanford Health, headquartered in Sioux Falls, SD, is one of the largest health systems in the US with 44 hospitals, 1,400 physicians, and more than 200 senior care locations in 26 states and nine countries.

Geisinger Health, headquartered in Danville, PA, has initiated a pilot project based on PGx testing. The genetic sequencing data from 2,500 patients will be reviewed to determine if they are taking the best medication for their health conditions. Patients in need of changes to their prescriptions will be contacted by Geisinger pharmacists for recommendations.

As consumer demand for PGx testing increases, DTC customers will likely continue seeking new information about their genome. Clinical laboratories could play a role in interpreting that data and assisting pathologists and other healthcare providers determine the best drug therapies for optimal health outcomes.

—JP Schlingman

Related Information:

FDA Clears 23andMe’s DTC Drug Metabolism Test

FDA Clears the First Consumer Genetic Test for How Well Your Medications May Work—with Caveats

23andMe Granted the First and Only FDA Authorization for Direct-to-Consumer Pharmacogenetic Reports

Your Genes Can Show Us How Your Body Reacts to Drugs

Sales of Direct-to-Consumer Clinical Laboratory Genetic Tests Soar, as Members of Congress Debate How Patient Data should be Handled, Secured, and Kept Private

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