Demand for low cost, convenient access to doctors and drugs is driving transformation to decentralized medical care, and retail pharmacy chains see opportunity in offering primary care services
Retail pharmacies and pharmacists continue to play a growing role in healthcare as consumer demand for lower cost and convenience pushes the nation’s medical landscape away from centralized healthcare systems. Clinical laboratories have seen this in the increasing trend of consumers seeking vaccinations and home-health tests at their local drug stores.
Results of a pair of surveys dubbed “Pharmacy Next” conducted by Wolters Kluwer Health revealed that 58% of people are now willing to be treated for non-emergency healthcare conditions in non-traditional medical environments, such as retail pharmacies and clinics.
This is a finding that clinical laboratory managers and pathologists should incorporate into their labs’ strategic planning. It portends a shift in care away from the traditional primary care clinic—typically located in the campus around the community hospital—and toward retail pharmacies. Labs will want to capture the test referrals originating from the primary care clinics located in retail pharmacies.
This willingness to access medical care in non-traditional environments is especially true among people in Generation Y (Millennials) and Generation Z (Zoomers)—people born between 1981-1996 (Gen Y) and 1997-2012 (Gen Z), according to Journey Matters.
“As we saw in last year’s survey, primary care decentralization is continuing—the traditional one doctor-one patient, single point of coordination is vanishing, and this is especially evident in younger generations,” said Peter Bonis, MD, Wolters Kluwer’s Chief Medical Officer, in a press release.
The online surveys of more than 2,000 US adults was weighted by age, gender, household income, and education to be representative of the entire population of the United States.
“By preparing for this shift today, providers can work in concert across care sites to deliver the best care to patients,” said Peter Bonis, MD, Wolters Kluwer Health Chief Medical Officer, in a press release. “Likewise, newer care delivery models, like retail pharmacies and clinics, can ensure they’re ready to meet the expectations of healthcare consumers, who will increasingly be turning to them for a growing range of care needs.” Clinical laboratories may find new revenue opportunities working with the primary care clinics operating within local retail pharmacists and clinicians. (Photo copyright: Wolters Kluwer.)
Key Findings of the Wolters Kluwer Pharmacy Next Studies
Some key insights of the surveys include:
Care is rapidly decentralizing with 58% stating they are likely to visit a local pharmacy for non-emergency medical care.
Younger generations are signaling lasting change within the industry as they are more open to non-traditional styles of care.
61% of respondents envision most primary care services being provided at pharmacies, retail clinics, or pharmacy clinics within the next five years. Of the respondents, 70% of Millennials, 66% of Gen Z, 65% of Gen X, and 43% of Baby Boomers believe this transition will occur.
Consumers are worried about prescription costs and availability.
92% of respondents said physicians and pharmacists should inform patients of generic options.
59% of surveyed consumers have concerns about drug tampering and theft when it involves mail order or subscription prescription services.
One in three respondents believe convenience is more important than credentials in non-emergency situations.
The survey indicates that healthcare consumers across multiple generations are open to a shift in some medical services from doctors to pharmacists. However, there were some notable differences between generations.
Respondents of the Baby Boomer (55%) and Gen X (57%) generations stated they would trust a physician assistant with medication prescriptions, while only 42% of Gen Z and 47% of Millennial respondents felt the same way.
Additionally, Boomers (57%) and Gen X (67%) said they would feel comfortable with a nurse practitioner issuing their prescriptions, while only 44% of Gen Z and 53% of Millennials said they would.
Increased Comfort with Genetic Testing at Pharmacies
The surveys also showed that younger generations are more open to the field of pharmacogenomics, which combines pharmacology and genomics to analyze how an individual’s genetic makeup (aka, heredity) affects the efficacy and reactions to certain drugs. This is a key component of precision medicine.
Overall, 68% of individuals polled believe their individual genomic data could guide prescription decisions, with Millennials (77%) and Gen Z (74%) being the primary believers. Additionally, 88% of respondents stated they see an incentive for health insurers to cover genomic testing, and 72% said they would be open to genetic testing for personalized medical care.
But pharmacists and clinicians should be aware that advancing pharmacogenomics will require addressing privacy concerns. According to the Wolters Kluwer study, 57% of Gen Z and 53% of Millennials have apprehension surrounding genetic testing due to privacy risks, with 35% of Gen X and Boomers holding that same opinion.
Healthcare Staff Shortages, Drug Cost a Concern
Survey respondents are also concerned about pharmacy staff shortages and expenditures when seeking care at a pharmacy. Half of the participants are worried they will receive the wrong medication, half worry about getting the incorrect dosage, and almost half (47%) fear receiving the wrong directions due to overburdened pharmacy employees.
More people in Gen Z (59%) and Millennials (60%) had these concerns compared to Gen X (44%) and Boomers (38%).
Sadly, a distressing 44% of those surveyed admitted to not filling a prescription due to the costs. That number jumps to a staggering 56% among individuals with no health insurance, compared to 42% for insured patients.
“From hospitals to doctors’ offices, from pharmacies to pharma and beyond, healthcare must move to more affordable and accessible primary care models, adopt innovations that help deliver more personalized care, and address persistent safety and cost concerns that consumers have about their medications,” said Bonis in the press release.
Can Pharmacies Deliver Primary Care as Well as Doctor’s Offices?
Pharmacies may be logical setting for at least some non-emergency health services. According to the Centers for Disease Control and Prevention (CDC), approximately 90% of the US population live within five miles of a pharmacy and about 72% of visits to physician’s offices involve the prescribing and monitoring of medication therapies.
“We’re not talking about complicated services. We’re talking low-acuity, very basic care,” said Anita Patel, PharmD, Vice President of Pharmacy Services Development for Walgreens, at the HIMSS conference.
Pharmacies across the country continue to add more healthcare services to their available public offerings. This trend will likely persist into the future as healthcare becomes more expensive, wait times for physician appointments increases, and medical staff shortages rise. Thus, there may be opportunities for clinical laboratories to support pharmacists and doctors working in retail settings.
Meet ‘PECOTEX,’ a newly-invented cotton thread with up to 10 sensors that is washable. Its developers hope it can help doctors diagnosis disease and enable patients to monitor their health conditions
Wearable biosensors continue to be an exciting area of research and product development. The latest development in wearable biosensors comes from a team of scientists led by Imperial College London. This team created a conductive cotton thread that can be woven onto T-shirts, textiles, and face masks and used to monitor key biosignatures like heart rate, respiratory rate, and ammonia levels.
Clinical laboratory managers and pathologists should also take note that this wearable technology also can be used to diagnose and track diseases and improve the monitoring of sleep, exercise, and stress, according to an Imperial College London news release.
Should this technology make it into daily use, it might be an opportunity for clinical laboratories to collect diagnostic and health-monitoring data to add to the patient’s full record of lab test results. In turn, clinical pathologists could use that data to add value when consulting with referring physicians and their patients.
“Our research opens up exciting possibilities for wearable sensors in everyday clothing,” said Firat Güder, PhD, Principal Investigator and Chief Engineer at Güder Research Group at Imperial College London, in a news release. “By monitoring breathing, heart rate, and gases, they can already be seamlessly integrated, and might even be able to help diagnose and monitor treatments of disease in the future.” (Photo copyright: Wikipedia.)
Ushering in New Generation of Wearable Health Sensors
The researchers dubbed their new sensor thread PECOTEX. It’s a polystyrene sulfonate-modified cotton conductive thread that can incorporate more than 10 sensors into cloth surfaces, costs a mere 15 cents/meter (slightly over 39 inches), and is machine washable.
“PECOTEX is high-performing, strong, and adaptable to different needs,” stated Firat Güder, PhD, Principal Investigator and Chief Engineer at Güder Research Group, Imperial College London, in the press release.
“It’s readily scalable, meaning we can produce large volumes inexpensively using both domestic and industrial computerized embroidery machines,” he added.
The material is less breakable and more conductive than conventional conductive threads, which allows for more layers to be embroidered on top of each other to develop more complex sensors. The embroidered sensors retain the intrinsic values of the cloth items, such as wearability, breathability, and the feel on the skin. PECOTEX is also compatible with computerized embroidery machines used in the textile industry.
The researchers embroidered the sensors into T-shirts to track heart activity, into a face mask to monitor breathing, and into other textiles to monitor gases in the body like ammonia which could help detect issues with liver and kidney function, according to the news release.
“The flexible medium of clothing means our sensors have a wide range of applications,” said Fahad Alshabouna, a PhD candidate at Imperial College’s Department of Bioengineering and lead author of the study in the news release. “They’re also relatively easy to produce which means we could scale up manufacturing and usher in a new generation of wearables in clothing.”
Uses for PECOTEX Outside of Healthcare
The team plans on exploring new applications for PECOTEX, such as energy storage, energy harvesting, and biochemical testing for personalized medicine. They are also seeking partners for commercialization of the product.
“We demonstrated applications in monitoring cardiac activity and breathing, and sensing gases,” Fahad added. “Future potential applications include diagnosing and monitoring disease and treatment, monitoring the body during exercise, sleep, and stress, and use in batteries, heaters, and anti-static clothing.”
Wearable healthcare devices have enormous potential to perform monitoring for diagnostic, therapeutic, and rehabilitation purposes and support precision medicine.
Further studies and clinical trials need to occur before PECOTEX will be ready for mass consumer use. Nevertheless, it could lead to new categories of inexpensive, wearable sensors that can be integrated into everyday clothes to provide data about an individual’s health and wellbeing.
If this technology makes it to clinical use, it could provide an opportunity for clinical laboratories to collect diagnostic data for patient records and help healthcare professionals track their patients’ medical conditions.
Though a ‘work in progress,’ the Oxford researchers who conducted the trail believe the MCED blood test could help doctors give better cancer assessments
Cancer is typically diagnosed through tissue biopsies that are often invasive and painful for patients. Now, recently-released results of a National Health Service (NHS) trial study of a relatively new multi-cancer early detection test (MCED) may provide a less painful/invasive cancer test experience to UK residents.
Developed by California-based healthcare technology company Grail, the clinical laboratory blood test—called Galleri—can detect 50 cancer types and, according to the company’s website, even identify the cancer’s location within the body. It is currently only available through a doctor’s prescription.
Researchers have long sought to improve screening methods and diagnostic technologies that identify cancers more easily and at an earlier stage. They recognize that a simple, inexpensive laboratory blood test—as opposed to a tissue biopsy—that detects both the presence of multiple cancer types and its location would benefit both medical professionals and patients worldwide.
“The [Galleri] test was 85% accurate in detecting the source of the cancer, and that can be really helpful because so many times it is not immediately obvious when you have got the patient in front of you what test is needed to see whether their symptoms are down to cancer,” said Mark Middleton, MD, PhD, head of the Department of Oncology at the University of Oxford and lead researcher of the study, in a BBC interview. (Photo copyright: University of Oxford.)
Details of the SYMPLIFY Study
To conduct the SYMPLIFY study, Oxford researchers enrolled 6,238 adults in England and Wales who were referred for imaging and diagnostic testing with symptoms that were indicative of gynecological, lung, or lower/upper GI cancers, or with non-specific symptoms. The most commonly reported symptoms that triggered the referrals were:
DNA from cancer cells—called ctDNA (circulating tumor DNA)—can be detected in blood samples at early tumor stages. The Galleri MCED test was performed on cell-free DNA taken from blood samples provided by the study participants. The test was performed in batches and blinded to results of previous diagnostic tests.
The predictions of the test were then compared to diagnoses received via traditional diagnostic testing and imaging.
According to the Oxford researchers’ Lancet paper, GRAIL’s MCED test detected a cancer signal in 323 of the study participants. Of those individuals, 244 received a cancer diagnosis, resulting in a positive predictive value (PPV) of 75.5%, a negative predictive value (NPV) of 97.6%, and a specificity of 98.4%.
The overall sensitivity of the Galleri test was 66.3%, representing a range from 24.2% in Stage 1 cancers to 95.3% in stage IV cancers. The mean age of the study participants was 62.1 years old, and the sensitivity increased with age and cancer stage.
The overall accuracy of the top Cancer Signal Origin (CSO) prediction following a positive MCED test was 85.2%, the researchers concluded.
“With that prediction from the test, we can decide whether to order a scope or a scan and make sure we are giving the right test the first time,” Mark Middleton, MD, PhD, head of the Department of Oncology at the University of Oxford and lead researcher of the study, told BBC News.
The most common cancers detected among the study participants were:
“Earlier cancer detection and subsequent intervention has the potential to greatly improve patient outcomes. Most patients diagnosed with cancer first see a primary care physician for the investigation of symptoms suggestive of cancer, like weight loss, anemia, or abdominal pain, which can be complex as there are multiple potential causes,” said Brian Nicholson, DPhil, Associate Professor at Oxford’s Nuffield Department of Primary Care Health Sciences and co-lead investigator for the study in a 2023 Oxford press release. “New tools that can both expedite cancer diagnosis and potentially avoid invasive and costly investigations are needed to more accurately triage patients who present with non-specific cancer symptoms.
“The high overall specificity, positive predictive value, and accuracy of the cancer signal detected and cancer signal origin prediction that was reported across cancer types in the SYMPLIFY study indicate that a positive MCED test could be used to confirm that symptomatic patients should be evaluated for cancer before pursuing other diagnoses,” he added.
MCED Test May Help Doctors Better Assess Cancer
The SYMPLIFY study is the first large-scale analysis of an MCED test in patients who were referred by their doctors for diagnostic testing due to suspected cancers. The results of the study were presented at the annual meeting of the American Society of Clinical Oncology (ASCO) in June.
Middleton told BBC News that the test is not yet accurate enough to “rule in or rule out cancer,” but it was useful for researchers and patients.
“The findings from the study suggest this test could be used to support GPs to make clinical assessments but much more research is needed, in a larger trial, to see if it could improve GP assessment and ultimately patient outcomes,” David Crosby, PhD, head of Prevention and Early Detection Research, Cancer Research, UK, told BBC News.
Clinical laboratories and anatomic pathology groups that perform tissue biopsy testing for oncologists will want to monitor the progress of this simple blood test that may someday reduce the number of invasive, painful biopsies required to diagnose cancer and other health considerations.
Technology could enable patients to monitor their own oxygen levels and transmit that data to healthcare providers, including clinical laboratories
Clinical laboratories may soon have a new data point to add to their laboratory information system (LIS) for doctors to review. Researchers have determined that smartphones can read blood-oxygen levels as accurately as purpose-built pulse oximeters.
Conducted by researchers at the University of Washington (UW) and University of California San Diego (UC San Diego), the proof-of-concept study found that an unmodified smartphone camera and flash along with an app is “capable of detecting blood oxygen saturation levels down to 70%. This is the lowest value that pulse oximeters should be able to measure, as recommended by the US Food and Drug Administration,” according to Digital Health News.
This could mean that patients at risk of hypoxemia, or who are suffering a respiratory illness such as COVID-19, could eventually add accurate blood-oxygen saturation (SpO2) readings to their lab test results at any time and from any location.
“In an ideal world, this information could be seamlessly transmitted to a doctor’s office. This would be really beneficial for telemedicine appointments or for triage nurses to be able to quickly determine whether patients need to go to the emergency department or if they can continue to rest at home and make an appointment with their primary care provider later,” Matthew Thompson, DPhil, Professor of Global Health and Family Medicine at University of Washington, told Digital Health News. Clinical laboratories may soon have a new data point for their laboratory information systems. (Photo copyright. University of Washington.)
UW/UC San Diego Study Details
The researchers studied three men and three women, ages 20-34. All were Caucasian except for one African American, Digital Health News reported. To conduct the study, a standard pulse oximeter was placed on a finger and, on the same hand, another of the participant’s fingers was placed over a smartphone camera.
“We performed the first clinical development validation on a smartphone camera-based SpO2 sensing system using a varied fraction of inspired oxygen (FiO2) protocol, creating a clinically relevant validation dataset for solely smartphone-based contact PPG [photoplethysmography] methods on a wider range of SpO2 values (70–100%) than prior studies (85–100%). We built a deep learning model using this data to demonstrate an overall MAE [Mean Absolute Error] = 5.00% SpO2 while identifying positive cases of low SpO2 < 90% with 81% sensitivity and 79% specificity,” the researchers wrote in NPJ Digital Medicine.
When the smartphone camera’s flash passes light through the finger, “a deep-learning algorithm deciphers the blood oxygen levels.” Participants were also breathing in “a controlled mixture of oxygen and nitrogen to slowly reduce oxygen levels,” Digital Health News reported.
“The camera is recording a video: Every time your heart beats, fresh blood flows through the part illuminated by the flash,” Edward Wang, PhD, Assistant Professor of Electrical and Computer Engineering at UC San Diego and senior author of the project, told Digital Health News. Wang started this project as a UW doctoral student studying electrical and computer engineering and now directs the UC San Diego DigiHealth Lab.
“The camera records how much that blood absorbs the light from the flash in each of the three color channels it measures: red, green, and blue. Then we can feed those intensity measurements into our deep-learning model,” he added.
The deep learning algorithm “pulled out the blood oxygen levels. The remainder of the data was used to validate the method and then test it to see how well it performed on new subjects,” Digital Health News reported.
“Smartphone light can get scattered by all these other components in your finger, which means there’s a lot of noise in the data that we’re looking at,” Varun Viswanath, co-lead author in the study, told Digital Health News. Viswanath is a UW alumnus who is now a doctoral student being advised by Wang at UC San Diego.
“Deep learning is a really helpful technique here because it can see these really complex and nuanced features and helps you find patterns that you wouldn’t otherwise be able to see,” he added.
Each round of testing took approximately 15 minutes. In total the researchers gathered more than 10,000 blood oxygen readings. Levels ranged from 61% to 100%.
“The smartphone correctly predicted whether the subject had low blood oxygen levels 80% of the time,” Digital Health News reported.
Smartphones Accurately Collecting Data
The UW/UC San Diego study is the first to show such precise results using a smartphone.
“Other smartphone apps that do this were developed by asking people to hold their breath. But people get very uncomfortable and have to breathe after a minute or so, and that’s before their blood-oxygen levels have gone down far enough to represent the full range of clinically relevant data,” said Jason Hoffman, a PhD student researcher at UW’s UbiComp Lab and co-lead author of the study.
The ability to track a full 15 minutes of data is a prime example of improvement. “Our data shows that smartphones could work well right in the critical threshold range,” Hoffman added.
“Smartphone-based SpO2 monitors, especially those that rely only on built-in hardware with no modifications, present an opportunity to detect and monitor respiratory conditions in contexts where pulse oximeters are less available,” the researchers wrote.
“This way you could have multiple measurements with your own device at either no cost or low cost,” Matthew Thompson, DPhil, Professor of Global Health and Family Medicine at University of Washington, told Digital Health News. Thompson is a professor of both family medicine and global health and an adjunct professor of pediatrics at the UW School of Medicine.
What Comes Next
The UW/UC San Diego research team plans to continue its research and gather more diversity among subjects.
“It’s so important to do a study like this,” Wang said. “Traditional medical devices go through rigorous testing. But computer science research is still just starting to dig its teeth into using machine learning for biomedical device development and we’re all still learning. By forcing ourselves to be rigorous, we’re forcing ourselves to learn how to do things right.”
Though no current clinical laboratory application is pending, smartphone use to capture biometrics for testing is increasing. Soon, labs may need a way to input all that data into their laboratory information systems. It’s something to consider.
Findings may help clinical laboratories identify healthcare workers who could work on the front lines of the next pandemic without fear of serious infection
University of California San Francisco researchers have discovered a gene mutation that enables some people’s immune system to recognize and respond to a COVID-19 infection despite having no prior exposure to the SARS-CoV-2 coronavirus (which would produce antibodies against future infections).
This genetic advantage will be of interest to clinical laboratory professionals and pathologists involved in immune system testing. Why some individuals with COVID-19 show few if any symptoms has confounded microbiologists and virologists since the beginning of the pandemic. Now, the UC San Francisco (UCSF) scientists believe they know why.
Dark Daily previously covered the UCSF study in “UCSF Researchers Identify Genetic Mutation That Promotes an Asymptomatic Response in Humans to COVID-19 Infection.” We covered how variations in a specific gene in a system of genes responsible for regulating the human immune system appears to be the factor in why about 10% of those who become infected with the virus are asymptomatic. And we predicted that understanding why some people display no symptoms during a COVID-19 infection could lead to new precision medicine genetic tests medical laboratories could use to identify people with the mutated gene.
“If you have an army that’s able to recognize the enemy early, that’s a huge advantage,” said immunogeneticist Jill Hollenbach, PhD, in a UCSF news release. Hollenbach led the research team that identified a mutated gene responsible for immune response to COVID-19 in individuals who have not been exposed to the SARS-CoV-2 coronavirus. Clinical laboratory professionals and pathologists involved in immune system testing will find the UCSF study useful. (Photo copyright: Elena Zhukova /University of California San Francisco.)
UCSF Study Details
UCSF researchers discovered that individuals who are COVID-19 “super dodgers” have “a mutation in the proteins that helps the immune system recognize what belongs to the body and what doesn’t,” Euronews reported.
The UCSF study showed that HLA-B*15.01—a Human Leukocyte Antigen (HLA) mutation—informs the body of the presence of SARS-CoV-2, regardless of whether it has encountered the invader before. The immune system then deploys T-cells [white blood cells called lymphocytes that help the immune system fight germs and protect the body from disease] to “eliminate” the coronavirus.
“Individuals with this B*15:01 mutation who have these cross-reactive T-cells seem to be particularly effective, very early in infection, at nuking—for lack of a better word—the virus before these folks experience any symptoms at all,” Jill Hollenbach, PhD, and immunogeneticist and Professor in the Department of Neurology and Department of Epidemiology and Biostatistics at UCSF, told STAT. Hollenbach led the team that discovered the gene mutation responsible for COVID-19 super dodgers.
“The mutation—HLA-B*15:01—is quite common, carried by about 10% of the study’s population. It doesn’t prevent the virus from infecting cells but, rather, prevents people from developing any symptoms. That includes a runny nose or even a barely noticeable sore throat,” according to a UCSF news release, which added, “UCSF researchers found that 20% of people in the study who remained asymptomatic after infection carried at least one copy of the HLA-B*15:01 variant, compared to 9% of those who reported symptoms. Those who carried two copies of the variant were far more likely—more than eight times—to avoid feeling sick.”
To find study participants, the team consulted The National Marrow Donor Program (NMDP) Be the Match Registry, which pairs donors with people needing transplants. It’s the largest registry of HLA volunteer donors in the United States. “Researchers suspected early on that HLA was involved, and fortunately a national registry existed that contained the data they were looking for,” the UCSF news release states.
To fully understand how COVID-19 affected the NMDP donors, the team utilized UCSF’s COVID-19 Citizen Science Study, a longitudinal cohort study on UCSF’s Eureka Digital Research Platform which uses a smartphone app developed by UCSF to learn how to predict SARS-CoV-2’s spread throughout the world and combat it.
About 30,000 people from the registry were followed through that first year of the COVID-19 pandemic, which featured frequent testing and no vaccine access for most, UCSF stated.
“We did not set out to study genetics, but we were thrilled to see this result come from our multidisciplinary collaboration with Dr. Hollenbach and the National Marrow Donor Program,” said internal medicine physician Mark Pletcher, MD, Professor of Epidemiology and Biostatistics at UCSF, in the news release. Pletcher’s practice focuses on prevention of cardiovascular disease.
The UCSF scientists dove deep to understand how HLA-B*15:01 tackled coronavirus, and together with researchers from La Trobe University in Australia, “They homed in on the concept of T-cell memory, which is how the immune system remembers previous infections,” UCSF reported.
“It’s just one of these natural lucky breaks,” Hollenbach told STAT.
UCSF Findings Bring Hope for Improved Vaccines and Drug Therapies
HLA was a good hunch to follow. The UCSF researchers’ Nature paper claimed HLA to be “the most polymorphic and medically important human genomic region.” It noted that variations of HLA were linked to myriad diseases, especially viral infections.
“The strongest associations were seen with viral infections, and HLA was associated with rapid progression and viral load of human immunodeficiency virus (HIV), hepatitis B, and C … Also HLA class I and II alleles have been associated with severe acute respiratory syndrome caused by SARS-CoV,” the Nature paper noted.
“Specific focus on asymptomatic infection has the potential to further our understanding of disease pathogenesis and supports ongoing efforts towards vaccine development and the identification of potential therapeutic targets,” the UCSF researchers wrote in Nature.
Should further research and studies confirm these findings, it’s reasonable to speculate that, in a future outbreak of new strains of SARS-CoV-2, clinical laboratories could test individuals to identify those with the mutation making them unlikely to experience a serious infection.
Those individuals could work on the front lines of medical care with a lower risk of infection and serious disease. It might also mean that they would not need vaccinations at all.
Genetic scientists show how rapid WGS is helping doctors determine best treatments for patients with life-threatening conditions
Clinical laboratory scientists will recall that last year, Dark Daily covered how researchers at Stanford University School of Medicine had developed a method for performing rapid whole genomic sequencing (WGS) in as little as five hours. We predicted that their new ultra-rapid genome sequencing approach could lead to significantly faster diagnostics and improved clinical laboratory treatments for cancer and other diseases. And it has.
The research scientist responsible for that breakthrough is cardiologist and Associate Dean of Stanford University School of Medicine, Euan Ashley, MD, PhD. Ashley is also a professor of genomics and precision health, cardiovascular medicine, genetics, and biomedical data science and pathology.
Ashley’s success demonstrates that the drive to reduce the diagnostic time to answer is a market dynamic encouraging research companies to continue finding ways to make WGS faster to accomplish, cheaper to perform, and the DNA sequences generated more accurate.
It is precisely these developments that will provide clinical laboratories and anatomic pathology groups with new means for improving diagnosis and the identification of the most appropriate therapies for individual patients—a core element of precision medicine.
Ashley’s team is now looking at how faster genetic sequencing results could help physicians make life-and-death treatment decisions, STAT reported.
“There’s just never been a better time to be doing genomics,” cardiologist Euan Ashley, MD, PhD, Associate Dean of the Stanford University School of Medicine, told STAT. “Now there are lots of choices. If you’re a genome center and you need to do half a million genomes, you’re going to be extremely price-sensitive. If you’re a clinical lab, where you get a few exomes and a few genomes every day, and what really matters to you is the highest possible accuracy for diagnosis, then you’re definitely going to make a different choice,” he added. (Photo copyright: euanangusashley.com.)
Getting Crucial Genetic Information Faster
Ashley believes that if doctors who work with rare and deadly diseases get crucial genetic information faster, they can more precisely determine which surgical procedures are best for their patients during life-or-death situations.
Already, his work is proving highly successful. In a letter his team published in the New England Journal of Medicine (NEJM), the researchers reported 12 cases of sequencing seriously ill patients, five of whom were diagnosed in seven hours and 18 minutes. Every single case resulted in tangible changes in treatments given to the patients.
“We continue to be interested in sequencing genomes faster and more accurately, for a broader range of clinical applications. We’re recruiting from intensive care units similar kinds of patients to the ones we did before, but with every aspect of the pipeline upgraded, which helps both from a speed but also from an accuracy perspective,” he told STAT.
Ashley and his team continue to delve into the patient care aspects, striving to continue to make a big impact. In addition, the group is being sought out by cancer doctors who need faster diagnoses.
“We also have a lot of interest from cancer doctors saying it’s really important to make a cancer diagnosis quickly. And of course, there is no person who’s ever had the specter of cancer hanging over them for a moment that didn’t want some kind of an answer faster. If you can have it in the next minute, you would take it rather than waiting several weeks,” he noted.
As a result, the group has initiated pilot studies “to look at returning results faster in the same way that we were speeding up the intensive care unit with whole genome sequencing,” Ashley told STAT.
Though the work is in the early stages, the team has a few scenarios where access to genetic data changes medical decision making. For instance, when genetic test results showing a positive BRCA variant alter a doctor’s surgical plan.
“We don’t wait for a cardiac enzyme [test] if somebody’s having a heart attack. That comes back within 10 minutes to a few hours from the lab. I don’t see why you should have to wait for a test to tell you if you’re positive for BRCA variant,” he told STAT.
“Another very obvious place is acute leukemia. And there’s a number of actionable conditions where if they can be detected rapidly, then treatment can be started faster,” he added.
Improving Genetic Sequencing Accuracy while Lowering Costs
STAT asked Ashley about a claim that his team could cut their Guinness World Record sequencing time in half.
“It’s easy to throw that number around, harder to deliver on it. But I think we’re definitely on track to knock hours, not minutes, off that record,” he said.
Additionally, the team continues to work on decreasing cost per genome. In just the time since the record was set, there has already been great strides in this area. The market is filled with new companies and the competition has lowered costs.
“It has definitely come down,” Ashely noted. “In fact, by the time we ended up publishing the [NEJM] paper—as opposed to when we first did this calculation—the cost was already lower. And that was actually before the entry of these new companies to the market, which added downward pressure on costs of sequencing,” he added.
Getting Payers to Reimburse for Genetic Sequencing
Even though costs for WGS is dropping, getting health plans to reimburse for genetic testing remains difficult.
“The challenge now is persuading payers to the very obvious fact that this technology makes patients’ lives better and saves them money,” Ashley told STAT. “And that’s the amazing part. There are so many cost-effectiveness studies now for this technology and yet we are still paying people to sit on the phone all day long and debate with insurance companies.
“And in a world where we pay a very large amount of money for therapeutics, these diagnostics can be cost-saving and lifesaving. At some level, it’s hard to understand why it hasn’t been deployed much more readily,” he concluded.
Clinical laboratory leaders, pathologists, and research scientists should continue to monitor the development of rapid genetic sequencing for diagnostic purposes.
