Aug 30, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
Should this milestone be an indicator that more patients are willing to use telehealth to interact with providers, then clinical laboratories and pathology groups will need to respond with new ways to collect specimens and report results
Telehealth is gaining momentum at Kaiser Permanente (KP). Public statements by Kaiser administrators indicate that the number of virtual visits (AKA, telemedicine) with providers now is about equal to face-to-face visits with providers. This trend has many implications for clinical laboratories, both in how patient samples are collected from patients using virtual provider visits and how the medical laboratory test results are reported.
That this is happening at KP is not a surprise. The health system is well-known as a successful healthcare innovator. So, when its Chairman and Chief Executive Officer Bernard Tyson publically announced that the organization’s annual number of virtual visits with healthcare providers had surpassed the number of conventional in-person appointments, he got the members’ attention, as well as, the focus of former US Senator Bill Frist, MD, who moderated the event.
Tyson made this statement during a gathering of the Nashville Health Care Council. He informed the attendees that KP members have more than 100 million encounters each year with physicians, and that 52% of those are virtual visits, according to an article in Modern Healthcare.
However, when asked to comment about Tyson’s announcement during a video interview with MedCity News following the 13th Annual World Health Care Congress in Washington, DC, Robert Pearl, MD, Executive Director/CEO of the Permanente Medical Group and President/CEO of the Mid-Atlantic Permanente Medical Group (MAPMG), stated, “Currently we’re doing 13-million virtual visits—that’s a combination of secure e-mail, digital, telephone, and video—and we did 16-million personal visits. But, by 2018, we expect those lines will cross because the virtual visits [are] going up double digits, whereas the in-person visits are relatively flat.”
So, there’s a bit of disagreement on the current numbers. Nevertheless, the announcement that consumer demand for virtual visits was increasing sparked excitement among the meeting attendees and telemedicine evangelists.
“It’s astounding,” declared Senator Frist, “because it represents what we all want to do, which is innovate and push ahead,” noted an article in The Tennessean.
Is this a wake-up call for the healthcare industry? Should clinical laboratories start making plans for virtual patients?
Of virtual office visits, Pearl noted in the interview with MedCity News, “Why wouldn’t you want, if the medical conditions are appropriate, to have your care delivered from the convenience of your home, or wherever you might be, at no cost to you, and to have it done immediately without any delays in care?”
Pearl added that one-third of patients in primary care provider virtual visits are able to connect with specialists during those sessions.
“It’s better quality, greater convenience, and certainly better outcomes as care begins immediately,” he noted.
Kaiser Permanente ‘Reimagines’ Medical Care
The virtual visit milestone is an impactful one at Kaiser Permanente, an Oakland, Calif.-based nonprofit healthcare organization that includes Kaiser Foundation hospitals, Permanente Medical Groups, and the Kaiser Foundation Health Plan. It suggests that the KP has successfully integrated health information technology (HIT) with clinical workflows. And that the growing trend in virtual encounters indicates patients are becoming comfortable accessing physicians and clinicians in this manner.
As Tyson stated during the Nashville meeting, it is about “reimagining medical care.”
Bernard Tyson (right), Chairman and CEO of Kaiser Permanente, speaking with former Senator Bill Frist, MD (left), at the Nashville Health Care Council meeting where he announced that the non-profit provider’s number of virtual visits with patients had surpassed its face-to-face appointments. (Photo Credit: Nashville Health Care Council.)
What does “reimagining” mean to the bottom line? He shared these numbers with the audience, according to the Modern Healthcare report:
- 25% of the system’s $3.8 billion in capital spending goes to IT;
- 7-million people are Kaiser Permanente members;
- 95% of members have a capitated plan, which means they pay Kaiser Permanente a monthly fee for healthcare services, including the virtual visits.
The American Telemedicine Association, which itself interchanges the words “telemedicine” and “telehealth,” noted that large healthcare systems are “reinventing healthcare” by using telemedicine. The worldwide telemedicine market is about $19 billion and expected to grow to more than $48 billion by 2021, noted a report published by Research and Markets.
Consumers Want Virtual Health, but Providers Lag Behind Demand
Most Americans are intrigued with telehealth services. However, not everyone is participating in them. That’s according to an Advisory Board Company Survey that found 77% of 5,000 respondents were interested in seeing a doctor virtually and 19% have already done so.
Healthcare systems such as Kaiser Permanente and Cleveland Clinic are embracing telehealth, which Dark Daily covered in a previous e-briefing. However, the healthcare industry overall has a long way to go “to meet consumer interest in virtual care,” noted an Advisory Board news release about the survey.
“Direct-to-consumer virtual specialty and chronic care are largely untapped frontiers,” noted Emily Zuehlke, a consultant with The Advisory Board Company (NASDAQ:ABCO). “As consumers increasingly shop for convenient affordable healthcare—and as payers’ interest in low-cost access continues to grow—this survey suggests that consumers are likely to reward those who offer virtual visits for specialty and chronic care,” she stated.
Telehealth Could Increase Healthcare Costs
Does telehealth reduce healthcare spending? A study published in Health Affairs suggests that might not be the case. The researchers found that telemedicine could actually increase costs, since it drives more people to use healthcare.
“A key attraction of this type of telehealth for health plans and employers is the potential savings involved in replacing physician office and emergency department visits with less expensive virtual visits. However, increased convenience may tap into unmet demand for healthcare, and new utilization may increase overall healthcare spending,” the study authors wrote in the Health Affairs article.
Clinical Laboratories Can Support Virtual Healthcare
Clinical laboratories must juggle supporting consumer demand for convenience, while also ensuring health quality expectations and requirements. How can pathologists and medical laboratory leaders integrate their labs with the patient’s virtual healthcare experience, while also aiming for better and more efficient care? One way would be to explore innovative ways to contact patients about the need to collect specimens subsequent to virtual visits. Of course, the procedures themselves must be done in-person. Nevertheless, medical laboratories could find ways to digitally complement—through communications, test results sharing, and education—patients’ use of virtual visits.
—Donna Marie Pocius
Related Information:
Kaiser Permanente Chief Says Members are Flocking to Virtual Visits
Kaiser’s Tyson to Nashville: Health Care’s Future Isn’t in a Hospital
More Virtual Care Than Office Visits at Kaiser Permanente by 2018
Telemedicine Market Forecasts: 2016 to 2021
What do Consumers Want from Virtual Visits?
Virtual Visits with Medical Specialists Draw Strong Consumer Demand, Survey Shows
Direct-to-Consumer Telehealth May Increase Access to Care but Does Not Decrease Spending
Cleveland Clinic Gives Patients Statewide 24/7 Access to Physicians Through Smartphones, iPads, Tablets, and Online; Will Telemedicine Also Involve Pathologists?
Aug 23, 2017 | Digital Pathology, Instruments & Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Technology allows retrievable information to be recorded directly into the genomes of living bacteria, but will this technology have value in clinical laboratory testing?
Researchers at Harvard Medical School have successfully used CRISPR technology to encode an image and a short film into the Deoxyribonucleic acid (DNA) of bacteria. Their goal is to develop a way to record and store retrievable information in the genomes of living bacteria. A story in the Harvard Gazette described the new technology as a sort of “biological hard drive.”
It remains to be seen how this technology might impact medical laboratories and pathology groups. Nevertheless, their accomplishment is another example of how CRISPR technology is leading to new insights and capabilities that will advance genetic medicine and genetic testing.
The researchers published their study in the journal Science, a publication of the American Association for the Advancement of Science (AAAS).
Recording Complex Biological Events in the Genomes of Bacteria
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) are DNA sequences containing short, repetitive base sequences found in the genomes of bacteria and other micro-organisms that can facilitate the modification of genes within organisms. The term CRISPR also can refer to the whole CRISPR-Cas9 system, which can be programmed to pinpoint certain areas of genetic code and to modify DNA at exact locations.
Led by George Church, PhD, faculty member and Professor of Genetics at Harvard Medical School, the team of researchers at the Wyss Institute for Biologically Inspired Engineering at Harvard University in Cambridge, Mass., constructed a molecular recorder based on CRISPR that enables cells to obtain DNA information and produce a memory in the genome of bacteria. With it, they inserted a GIF image and a five-frame movie into the bacteria’s DNA.
“As promising as this was, we did not know what would happen when we tried to track about 100 sequences at once, or if it would work at all,” noted Seth Shipman, PhD, Postdoctoral Fellow, and one of the authors of the study in the Harvard Gazette story. “This was critical since we are aiming to use this system to record complex biological events as our ultimate goal.”
Translating Digital Information into DNA Code
The team transferred an image of a human hand and five frames of a movie of a running horse onto nucleotides to imbed data into the genomes of bacteria. This produced a code relating to the pixels of each image. CRISPR was then used to insert genetic code into the DNA of Escherichia coli (E-coli) bacteria. The researchers discovered that CRISPR did have the ability to encode complex information into living cells.
“The information is not contained in a single cell, so each individual cell may only see certain bits or pieces of the movie. So, what we had to do was reconstruct the whole movie from the different pieces,” stated Shipman in a BBC News article. “Maybe a single cell saw a few pixels from frame one and a few pixels from frame four … so we had to look at the relation of all those pieces of information in the genomes of these living cells and say, ‘Can we reconstruct the entire movie over time?’”
The team used an image of a digitized human hand because it embodies the type of intricate data they wish to use in future experiments. A movie also was used because it has a timing component, which could prove to be beneficial in understanding how a cell and its environment may change over time. The researchers chose one of the first motion pictures ever recorded—moving images of a galloping horse by Eadweard Muybridge, a British photographer and inventor from the late 19th century.
“We designed strategies that essentially translate the digital information contained in each pixel of an image or frame, as well as the frame number, into a DNA code that, with additional sequences, is incorporated into spacers. Each frame thus becomes a collection of spacers,” Shipman explained in the Harvard Gazette story. “We then provided spacer collections for consecutive frames chronologically to a population of bacteria which, using Cas1/Cas2 activity, added them to the CRISPR arrays in their genomes. And after retrieving all arrays again from the bacterial population by DNA sequencing, we finally were able to reconstruct all frames of the galloping horse movie and the order they appeared in.”
In the video above, Wyss Institute and Harvard Medical School researchers George Church, PhD, and Seth Shipman, PhD, explain how they engineered a new CRISPR system-based technology that enables the chronological recording of digital information, like that representing still and moving images, in living bacteria. Click on the image above to view the video. It is still too early to determine how this technology may be useful to pathologists and clinical laboratory scientists. (Caption and video copyright: Wyss Institute at Harvard University.)
“In this study, we show that two proteins of the CRISPR system, Cas1 and Cas2, that we have engineered into a molecular recording tool, together with new understanding of the sequence requirements for optimal spacers, enables a significantly scaled-up potential for acquiring memories and depositing them in the genome as information that can be provided by researchers from the outside, or that, in the future, could be formed from the cells natural experiences,” stated Church in the Harvard Gazette story. “Harnessed further, this approach could present a way to cue different types of living cells in their natural tissue environments into recording the formative changes they are undergoing into a synthetically created memory hotspot in their genomes.”
Encoding Information into Cells for Clinical Laboratory Testing and Therapy
The team plans to focus on creating molecular recording devices for other cell types and on enhancing their current CRISPR recorder to memorize biological information.
“One day, we may be able to follow all the developmental decisions that a differentiating neuron is taking from an early stem cell to a highly-specialized type of cell in the brain, leading to a better understanding of how basic biological and developmental processes are choreographed,” stated Shipman in the Harvard Gazette story. Ultimately, the approach could lead to better methods for generating cells for regenerative therapy, disease modeling, drug testing, and clinical laboratory testing.
According to Shipman in the BBC News article, these cells could “encode information about what’s going on in the cell and what’s going on in the cell environment by writing that information into their own genome.”
This field of research is still new and its full potential is not yet understood. However, if this capability can be developed, there could be opportunities for pathologists and molecular chemists to develop methods for in vivo monitoring of a patient’s cell function. These methods could prove to be an unexpected new way for clinical laboratories to add value and become more engaged with the clinical care team.
—JP Schlingman
Related Information:
New CRISPR Technology Takes Cells to the Movies
Molecular Recordings by Directed CRISPR Spacer Acquisition
GIF and Image Written into the DNA of Bacteria
Pro and Con: Should Gene Editing be Performed on Human Embryos?
CRISPR Gene Editing Can Cause Hundreds of Unintended Mutations
Intellia Therapeutics Announces Patent for CRISPR/Cas Genome Editing in China
Everything You Need to Know about CRISPR, the New Tool that Edits DNA
Breakthrough DNA Editor Born of Bacteria
Patent Dispute over CRISPR Gene-Editing Technology May Determine Who Will Be
Top Biologists Call for Moratorium on Use of CRISPR Gene Editing Tool for Clinical Purposes Because of Concerns about Unresolved Ethical Issues
Aug 4, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
SHERLOCK makes accurate, fast diagnoses for about 61-cents per test with no refrigeration needed; could give medical laboratories a new diagnostic tool
Genetics researchers have been riveted by ongoing discoveries related to Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) for some time now and so have anatomic pathology laboratories. The diagnostic possibilities inherent in CRISPR have been established, and now, a new diagnostic tool that works with CRISPR is set to change clinical laboratory diagnostics in a foundational way.
The tool is called SHERLOCK, which stands for (Specific High-sensitivity Enzymatic Reporter unLOCKing). And it is causing excitement in the scientific community for several reasons:
- It can detect pathogens in extremely small amounts of genetic matter;
- Tests can be performed using urine and/or saliva rather than blood;
- The tests are extremely sensitive; and they
- Cost far less than the diagnostic tests currently in use.
In an article published in Science, researchers described SHERLOCK tests that can distinguish between strains of Zika and Dengue fever, as well as determining the difference between mutations in cell-free tumor DNA.
How SHERLOCK and CRISPR Differ and Why That’s Important
Scientists have long suspected that CRISPR could be used to detect viruses. However, far more attention has been given to the its genome editing capabilities. And, there are significant differences between how CRISPR and SHERLOCK work. According to the Science article, when CRISPR is used to edit genes, a small strip of RNA directs an enzyme capable of cutting DNA to a precise location within a genome. The enzyme that CRISPR uses is called Cas9 (CRISPR associated protein 9). It works like scissors, snipping the strand of DNA, so that it is either damaged or replaced by a healthy, new sequence.
SHERLOCK, however, uses a different enzyme—Cas13a (originally dubbed C2c2 by the researchers who discovered it). Cas13a goes to RNA, rather than DNA, and once it starts cutting, it doesn’t stop. It chops through any RNA it encounters. The researchers who developed SHERLOCK describe these cuts as “collateral cleavage.” According to an article published by STAT, “All that chopping generates a fluorescent signal that can be detected with a $200 device or, sometimes, with the naked eye.”
The screenshot above is from a video in which Feng Zhang, PhD (center), a Core Member of the Broad Institute at MIT and one of the lead researchers working on SHERLOCK, and his research team, explain the difference and value SHERLOCK will make in the detection of diseases like Zika. Click on the image above to watch the video. (Video copyright: Broad Institute/MIT.)
Early Stage Detection in Clinical Laboratories
A research paper published in Science states that SHERLOCK can provide “rapid DNA or RNA detection with attomolar sensitivity and single-base mismatch specificity.” Attomolar equates to about one part per quintillion—a billion-billion. According to the article on the topic also published in Science, “The detection sensitivity of the new CRISPR-Cas13a system for specific genetic material is one million times better than the most commonly used diagnostic technique.” Such sensitivity suggests that clinical laboratories could detect pathogens at earlier stages using SHERLOCK.
The Stat article notes that, along with sensitivity, SHERLOCK has specificity. It can detect a difference of a single nucleotide, such as the difference between the African and Asian strains of Zika (for example, the African strain has been shown to cause microcephaly, whereas the Asian strain does not). Thus, the combination of sensitivity and specificity could mean that SHERLOCK would be more accurate and faster than other diagnostic tests.
Clinicians in Remote Locations Could Diagnose and Treat Illness More Quickly
Perhaps one of the most important aspects of SHERLOCK is the portability and durability of the test. It can be performed on glass fiber paper and works even after the components have been freeze dried. “We showed that this system is very stable, so you can really put it on a piece of paper and it will survive. You don’t have to refrigerate it all the times,” stated Feng Zhang, PhD, in an interview with the Washington Post. Zhang is a Core Member of the Broad Institute at MIT and was one of the scientists who developed CRISPR.
The researchers note that SHERLOCK could cost as little as 61-cents per test to perform. For clinicians working in remote locations with little or no power, such a test could improve their ability to diagnose and treatment illness in the field and possibly save lives.
“If you had something that could be used as a screening test, very inexpensively and rapidly, that would be a huge advance, particularly if it could detect an array of agents,” stated William Schaffner, MD, Professor and Chair of the Department of Preventive Medicine at Vanderbilt University Medical Center, in the Post article. Schaffner describes the Broad Institute’s research as being “very, very provocative.”
The test could radically change the delivery of care in more modern settings, as well. “It looks like one significant step on the pathway [that] is the Holy Grail, which is developing point-of-care, or bedside detection, [that] doesn’t require expensive equipment or even reliable power,” noted Scott Weaver, PhD, in an article on Big Think. Weaver is a Professor and Director at the Institute for Human Infections and Immunity University of Texas Medical Branch in Galveston, Texas.
Just the Beginning
Anatomic pathologists and clinical laboratories will want to follow SHERLOCK’s development. It could be on the path to fundamentally transforming the way disease gets diagnosed in their laboratories and in the field.
According to the Post article, “The scientists have filed several US patent applications on SHERLOCK, including for uses in detecting viruses, bacteria, and cancer-causing mutations.” In addition to taking steps to secure patents on the technology, the researchers are exploring ways to commercialize their work, as well as discussing the possibility of launching a startup. However, before this technology can be used in medical laboratory testing, SHERLOCK will have to undergo the regulatory processes with various agencies, including applying for FDA approval.
—Dava Stewart
Related Information:
New CRISPR Tool Can Detect Tiny Amounts of Viruses
CRISPR Cousin SHERLOCK May Be Able to Track Down Diseases, Scientists Say
Nucleic Acid Detection with CRISPR-Cas13a/C2c2
A New CRISPR Breakthrough Could Lead to Simpler, Cheaper Disease Diagnosis
Meet CRISPR’s Younger Brother, SHERLOCK
Trends in Genomic Research That Could Impact Clinical Laboratories and Anatomic Pathology Groups Very Soon
Pathologists and Clinical Laboratories May Soon Have a Test for Identifying Cardiac Patients at Risk from Specific Heart Drugs by Studying the Patients’ Own Heart Cells
Patent Dispute over CRISPR Gene-Editing Technology May Determine Who Will Be Paid Licensing Royalties by Medical Laboratories
Jul 28, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Project should provide treasure-trove of molecular information on human protein and lead to development of new biomarkers for use in clinical laboratory tests and personalized medicine
Human proteins provide clinical laboratories and anatomic pathology groups with a rich source of biomarkers used in medical tests and personalized medicine. Pathologists, therefore, should take note of a major milestone achieved by researchers from the Technical University of Munich (TUM) that moves science closer to developing a way to understand the complete human proteome.
Scientists participating in the ProteomeTools project have announced the synthesis of a library of more than 330,000 peptides representing essentially all canonical proteins of the human proteome.
Translating Human Proteome into Molecular and Digital Tools
The ProteomeTools project is “a joint effort of TUM, JPT Peptide Technologies, SAP SE, and Thermo Fisher Scientific … dedicated to translating the human proteome into molecular and digital tools for drug discovery, personalized medicine, and life science research.” Over the course of the project, 1.4 million synthetic peptides covering essentially all human gene products will be synthesized and analyzed using multimodal liquid chromatography-tandem mass spectrometry (LC-MS/MS).
ProteomeTools published their first paper, “Building ProteomeTools Based on a Complete Synthetic Human Proteome,” which detailed their work in Nature Methods.
“ProteomeTools was started as a collaborative effort bringing together academic and industrial partners to make important contributions to the field of proteomics. It is gratifying to see that this work is now producing a wealth of significant results,” stated TUM researcher Bernhard Kuster, PhD, one of the leaders of the effort and senior author on the Nature Methods paper, in a TUM news release.
Thousands of New Biomarkers for Clinical Laboratories, and More!
Kuster discussed the significance of the consortium’s work in an article published in Genome Web, which described ProteomeTools as “a resource that provides the proteomics community with a set of established standards against which it can compare experimental data.”
“In proteomics today, we are doing everything by inference,” Kuster stated to Genome Web. “We have a tandem mass spectrum and we use a computer algorithm to match it to a peptide sequence that [is generated] in silico to simulate what their spectrum might look like without us actually knowing what it looks like. That is a very fundamental problem.”
Bernhard Kuster, PhD (above center), of the Technical University of Munich (TUM), led a team of researchers from the ProteomeTools project who completed a tandem mass spectrometry analysis of more than 330,000 synthetic tryptic peptides representing essentially all of the canonical human gene products. The resource eventually will cover all one million peptides. (Photo copyright: Andreas Heddergott/TUM.)
In the Genome Web article, Kuster provides an example of how researchers could use the information developed by ProteomeTools, noting it could be useful for confirming peptide identification in borderline cases. “Because the spectra for these synthetic peptides are available to everyone, you could look up a protein or peptide ID that you find exciting, but where the [experimental] data might not totally convince you as to whether it is true or not,” he explained.
Kuster also states that he believes the resource has the potential to allow “the field to move away from conventional database searching methods toward a spectral matching approach.”
The TUM news release notes that the ProteomeTools project “will generate a further one million peptides and corresponding spectra with a focus on splice variants, cancer mutations, and post-translational modifications, such as phosphorylation, acetylation, and ubiquitinylation.” The end result could be a treasure-trove of molecular information on the human proteome and development of thousands of new biomarkers for clinical use for therapeutic drugs, and more.
“Representing the human proteome by tandem mass spectra of synthetic peptides alleviates some of the current issues with protein identification and quantification. The libraries of peptides and spectra now allow us to develop new and improve upon existing hardware, software, workflows, and reagents for proteomics. Making all the data available to the public provides a wonderful opportunity to exploit this resource beyond what a single laboratory can do. We are now reaching out to the community to suggest interesting sets of peptides to make and measure as well as to create LC-MS/MS data on platforms not available to the ProteomeTools consortium,” Kuster stated in the TUM news release.
All data from the ProteomeTools project is available at the ProteomeXchange Consortium. Pathologists and clinical laboratory professionals working to develop new assays will find it to be a valuable resource.
—Andrea Downing Peck
Related Information:
Researchers Build Complete Synthetic Human Proteome
Building Proteome Tools Based on a Complete Synthetic Human Proteome
Milestone for the Analysis of Human Proteomes
Jun 16, 2017 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Pathologists and clinical lab managers can help physicians more effectively select appropriate genetic tests and better interpret results to identify the most appropriate therapies for their patients
Clinical laboratories and pathology groups aren’t the only healthcare providers being scrutinized for cost cutting and workflow efficiencies. Physicians ordering genetic tests are now in the spotlight thanks to a study of genetic test misordering by one healthcare institution.
In her award-winning presentation, “Genetic Testing Costs and Compliance with Clinical Best Practices,” given at the 2016 annual clinical and scientific meeting of the American College of Obstetricians and Gynecologists (ACOG), Kathleen Ruzzo, MD, revealed some startling facts to the attendees. Ruzzo is an obstetrics and gynecology (OB-GYN) resident at the Naval Medical Center (NMC) in San Diego. She and a team of NMC researchers had reviewed all genetic tests ordered during a 3-month period. They found that more than one-third of the genetic tests examined were unnecessary and had led to more than $20,000 in additional healthcare expenditures. This got the attention of the ACOG, which awarded her 1st prize.
Critical Importance of Staying Informed on Genetic Tests
The researchers examined 114 charts that contained billing codes for genetic tests. They evaluated the charts for compliance with practice guidelines and completed a cost analysis of the tests. The tests were classified per GeneReviews guidelines and were labeled as:
- Appropriate;
- Misordered/Not Indicated;
- Misordered/False Reassurance; or
- Misordered/Inadequate.
GeneReviews is an online database focusing on information, diagnosis, management, and counseling of single-gene disorders. It is published by the National Center for Biotechnology Information.
The researchers found that:
- 44 of the 114 charts examined (39%) were misordered based on the guidelines;
- 24 of the tests were labeled as misordered/not indicated;
- Eight tests were classified as misordered/false reassurance; and
- 12 tests were determined to be misordered/inadequate.
“We know there is an ever-expanding number of genetic tests available for clinicians to order, and there is more direct marketing to the patient,” stated Ruzzo in an Ob. Gyn. News article. “It can be difficult to stay on top of that as we have so many different clinical responsibilities.”
Kathleen Ruzzo, MD (above right) and Monica Lutgendorf, MD (above left) of the Naval Medical Center in San Diego, reviewed 114 genetic tests ordered during a three-month period. They discovered that 39% of the tests were misordered according to guidelines, costing a total of $75,000. (Photo copyright: Naval Medical Center.)
The actual testing was performed by Laboratory Corporation of America and occurred over a three-month period. The seven common genetic tests that were reviewed were tests for:
The cost analysis of the tests revealed that $20,000 could have been saved by following the GeneReviews guidelines. The total costs affiliated with the 114 tests reached $75,000. Potential savings were thus 26.6% of the total cost of the genetic tests involved in this study. In many clinical settings, if pathologists and medical laboratory managers could help physicians better utilize genetic tests while reducing the cost of such testing by almost 27%, that would be a major contribution. Plus, patients would be getting better care.
Ordering the Right Genetic Test Saves Money and Protects Patients
According to the National Institutes of Health (NIH), costs affiliated with genetic tests can range from less than $100 to more than $2,000 depending on the type and intricacy of the test. The NIH notes that many insurance companies will pay for genetic testing if ordered by a physician.
Ruzzo also shared that many of her cohorts were surprised at the results of the research.
“I think it opened a lot of people’s eyes … to be more meticulous about [genetic] testing and to ask for help when you need help,” she stated in the Ob. Gyn. News article. “Having trained individuals, reviewing genetic tests could save money in the healthcare system more broadly. We could also approve the appropriate testing for the patient.”
Ruzzo did admit there were limitations to the study; the researchers only looked at small amounts of tests for a short period and they did not concentrate on the consequences of the misordering to the patients.
Monica Lutgendorf, MD, Maternal Fetal Medicine Physician at the Naval Medical Center, was one of the coauthors of the paper. In the Ob. Gyn. News article, she described the findings as “a call to action in general for ob-gyns to get additional training and resources to handle the ever-expanding number of [genetic] tests.”
“I don’t think that this is unique to any specific institution. I think this is part of the new environment of practice that we’re in,” Lutgendorf concluded.
Due to the costs of genetic testing and the fact that so many physicians have not been able to keep up with all the latest advances in genetic medicine and testing, misordering will, most likely, continue to be a problem. Nevertheless, pathologists and clinical laboratory managers can serve a crucial role in helping physicians be more effective at selecting the correct genetic tests and assisting them in interpreting results to choose the most appropriate therapies for their patients.
Meanwhile, for those pathologists and medical laboratory professionals interested in developing effective utilization management programs for lab tests, Dark Daily is presenting a special webinar, titled, “Simple, Swift Approaches to Lab Test Utilization Management: Proven Ways for Your Clinical Laboratory to Use Data and Collaborations to Add Value.” It will take place on Thursday, June 29, 2017 at 1PM EDT.
For information about this high-value webinar and to register, use this link (or copy this URL and paste into your browser: https://ddaily.wpengine.com/webinar/simple-swift-approaches-to-lab-test-utilization-management-proven-ways-for-your-clinical-laboratory-to-use-data-and-collaborations-to-add-value.)
—JP Schlingman
Related Information:
More Than One-Third of Genetic Tests Misordered, Study Finds
Genetic Tests Often Overused and Misinterpreted, Sometimes with Tragic Consequences
Webinar: Simple, Swift Approaches to Lab Test Utilization Management: Proven Ways for Your Clinical Laboratory to Use Data and Collaborations to Add Value
Research Awards Announced for ACOG 2017 Annual Meeting
Unnecessary Genetic Tests Wastes $500 Million Annually
Jun 14, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
New discoveries about the genetics of prostate cancer could lead to better tools for diagnosing the disease and selecting effective therapies based on each patient’s specific physiology
In recent decades, the biggest challenge for urologists, and for the pathologists who diagnosed the prostate tissue specimens they referred, has been how to accurately differentiate between non-aggressive prostate cancer, which can exist for decades with no apparent symptoms, and aggressive prostate cancer that kills quickly.
Thus, a research study that has identified unique genetic features within prostate cancer that can help determine if the cancer is aggressive or not, and whether certain drugs may be effective, is good news for men, for urologists, and for the clinical laboratories that will be called upon to perform testing.
These types of breakthroughs bring precision medicine ever closer to having viable tools for effective diagnosis of different types of cancer.
Genetic Fingerprints of Cancer Tumor Types
One such study into the genetic pathways of prostate cancer is bringing precision medicine ever-closer to the anatomic pathology laboratory. Researchers from the Princess Margaret Cancer Centre, which is associated with the University of Toronto Faculty of Medicine, have discovered that some tumors in prostate cancer have a genetic fingerprint that may indicate whether or not the disease will become more aggressive and less responsive to treatment.
Robert Bristow, MD, PhD, and Paul Boutros, PhD, conducted a study of nearly 500 Canadian men who had prostate cancer. Published in the journal Nature, the researchers examined the genetic sequences of those tumors, looking for differences between those that responded to surgery or radiation and those that did not.
In the video above, Dr. Robert Bristow, clinician-scientist at Princess Margaret Cancer Centre, discusses the findings of a key piece in the genetic puzzle that explains why men born with a BRCA2 mutation develop aggressive prostate cancer. (Caption and photo copyright: University Health Network/Princess Margaret Cancer Centre.)
According to a FierceBiotech article, approximately 30% of men who have a type of prostate cancer thought to be curable eventually develop an aggressive metastatic type of the disease. About half of the men who developed a metastatic form of cancer had mutations to three specific genes:
“This information gives us new precision about the treatment response of men with prostate cancer and important clues about how to better treat one set of men versus the other to improve cure rates overall,” stated Bristow in a University Health Network (UHN) press release.
In another study, researchers looked at 15 patients with BRCA2-inheritied prostate cancer and compared the genomic sequences of those tumors to a large group of sequences from tumors in less-aggressive cancer cases. According to a ScienceDaily news release, they found that only 2% of men with prostate cancer have the BRCA2-inherited type.
Knowing what type of cancer a man has could be critically important for clinicians tasked with prescribing the most efficient therapies.
“The pathways that we discovered to be abnormal in the localized BRCA2-associated cancers are usually only found in general population cancers when they become resistant to hormone therapy and spread through the body,” noted Bristow in the ScienceDaily release. If clinicians knew from diagnosis that the cancer is likely to become aggressive, they could choose a more appropriate therapy from the beginning of treatment.
Genetic Mutations Also Could Lead to Breast and Brain Cancer Treatments
BRCA mutations have also been implicated in breast, ovarian, and pancreatic cancers, among some other types. The knowledge that BRCA1 and BRACA2 mutations could indicate a more aggressive cancer is likely to spark investigation into whether poly ADP ribose polymerase (PARP) inhibitors could be used as an effective therapy.
PARP inhibitors are increasingly of interest to scientists. In addition to being used to treat some BRCA1/BRCA2-implicated cancers, two recent studies show that it could be effective in treating brain cancer with low-grade gliomas that involve a mutation to the gene isocitrate dehydrogenase (IDH), according to an article published by the National Cancer Institute and the National Institutes of Health (NIH).
Researchers of the study published in the journal Clinical Cancer Research investigated how PARP inhibitors impact DNA repair in gliomas.
Researchers of the study published in the journal Science Translational Medicine stated that they “demonstrate mutant IDH1-dependent PARP inhibitor sensitivity in a range of clinically relevant models, including primary patient-derived glioma cells in culture and genetically matched tumor xenografts in vivo.”
According to the UHN press release, the next step in using the knowledge that BRCA1 and BRCA2 may indicate a more aggressive prostate cancer is for researchers to create a diagnostic tool that can be used to determine what type of prostate cancer a man has. They expect the process to take several years. “This work really gives us a map to what is going on inside a prostate cancer cell, and will become the scaffold on which precision therapy will be built,” Boutros stated in a Prostate Cancer Canada news release.
Unlocking Knowledge That Leads to Accurate Diagnoses and Treatments
Research that furthers precision medicine and allows clinicians to choose the most appropriate treatment for individuals shows how quickly scientists are applying new discoveries. Every new understanding of metabolic pathways that leads to a new diagnostic tool gives clinicians and the patients they treat more information about the best therapies to select.
For the anatomic pathology profession, this shows how ongoing research into the genetic makeup of prostate cancer is unlocking knowledge about the genetic and metabolic pathways involved in this type of cancer. Not only does this help in diagnosis, but it can guide the selection of appropriate therapies.
On the wider picture, the research at the Princess Margaret Cancer Centre is one more example of how scientists are rapidly applying new knowledge about molecular and genetic processes in the human body to identify new ways to more accurately diagnose disease and select therapies.
—Dava Stewart
Related Information:
Genomic Hallmarks of Localized, Non-Indolent Prostate Cancer
Newly Discovered Genetic Fingerprint for Prostate Cancer Promises to Personalize Treatment
Prostate Cancer Team Cracks Genetic Code to Show Why Inherited Disease Can Turn Lethal
PARP Inhibitors May Be Effective in Brain, Other Caners with IDH Mutations
Chemosensitivity of IDH1-Mutated Gliomas Due to an Impairment in PARP1-Mediated DNA Repair
2-Hydroxyglutarate Produced by Neomorphic IDH Mutations Suppresses Homologous Recombination and Induces PARP Inhibitor Sensitivity
Prostate Cancer Researchers Find Genetic Fingerprint Identifying How, When Disease Spreads
Scientists Identify DNA Signature Linked to Prostate Cancer Severity
