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Clinical Laboratories and Pathology Groups

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Clinical Laboratories and Pathology Groups

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UC Berkeley Creates COVID-19 Robotic Testing Laboratory in Record Time by Reallocating Equipment and Training Researchers to Do Clinical Analysis

Medical laboratory leaders may be inspired by this rapid start-up and its outreach to students and the Bay area

In what could take a typical clinical laboratory months or even years to launch, the Innovative Genomics Institute (IGI) at the University of California, Berkeley managed to make a COVID-19 diagnostic testing laboratory operational in just a few weeks. 

Even more impressive is that the automated testing lab can reportedly process (with results in four hours) up to 3,000 patient samples daily for SARS-CoV-2, the coronavirus that causes the COVID-19 illness.

The IGI COVID-19 testing laboratory has high-throughput polymerase chain reaction (PCR) machines—some reallocated from idle university research labs—which can process the CDC 2019-novel coronavirus Real-Time (RT) PCR diagnostic panel, according to a Berkeley news release.

“All of our laboratories do PCR every day. But for this test we need to go above and beyond to ensure accurate detection,” said Jennifer Doudna, PhD, IGI Executive Director and UC Berkeley Professor of Molecular and Cell Biology, in an IGA news release.

“We put in place a robotic pipeline for doing thousands of tests per day,” she continued, “with a pipeline for managing the data and getting it back to clinicians. Imagine setting that up in a couple of weeks. It’s really extraordinary and something I’ve never seen in my career.”

In operation since April 6, the Berkeley COVID-19 testing lab’s main source for referrals is the University Health Services Tang Center. Testing services also are offered to medical centers across the East Bay area, San Francisco Business Times reported.

Robert Sanders, UC Berkeley’s Manager Science Communications, told Dark Daily the COVID-19 lab performs about 180 tests per day and has tested 1,000 people so far—80% of the samples came from the campus community. About 1.5% to 4% of the tests were found to be positive for the SARS-CoV-2 coronavirus among the groups tested.

“We hope other academic institutions will set up testing labs too,” he said.

How Did Berkeley Set Up a COVID-19 Diagnostic Lab So Fast?

To get up and running quickly, university officials drew from the campus and surrounding business community to equip and operate the laboratory, as well as, train researchers to do clinical analysis of patient samples.

Though the methodology to test for the coronavirus—isolating RNA from a biological sample and amplifying it with PCR—is standard fare in most research labs worldwide, including at UC Berkeley, the campus’ research labs were shuttered due to the spread of the coronavirus.

IGI reached out to the idle labs for their high-throughput PCR systems to start-up the lab. Through its partnership with University Health Services and local and national companies, IGI created an automated sample intake and processing workflow.

Additionally, several research scientists who were under government-mandated stay-at-home orders made themselves available. “My own research is shut down—and there’s not very much I can do other than stay in my home … finally I’m useful,” said PhD candidate Holly Gildea in a Berkeleyside article which noted that about 30 people—mostly doctoral students and postdoctoral researchers—are being trained to oversee the process and monitor the automated equipment.     

Postdoctoral fellows Jenny Hamilton (left) and Enrique Shao (right) with an automated liquid-handling robot (Hamilton Microlab STAR), which will be used to analyze swabs from patients to diagnose COVID-19. Hamilton and Shao volunteered to train to become CLIA certified so as to process patient samples. When analyzing real samples from patients, they would be wearing full personal protective equipment (PPE), including mask, face shield, gown and gloves. (Photo and caption copyright: Max and Jules Photography/UC Berkeley.)

Federal and State Authorities Remove Hurdles

In her article, “Blueprint for a Pop-up SARS-CoV-2 Testing Lab,” published on the medRxiv servers, Doudna summarized “three regulatory developments [that] allowed the IGI to rapidly transition its research laboratory space into a clinical testing facility.

  • “The first was the FDA’s March 16th Policy for Diagnostic Tests for Coronavirus Disease-2019 during the Public Health Emergency. This policy simplified the process for getting authorization for a testing method and workstream.
  • “The second was California Governor Newsom’s Executive Order N-25-20, which modified the requirements for clinical laboratory personnel running diagnostic tests for SARS-CoV-2 in a certified laboratory.
  • “The third was increased flexibility and expediency at the state and federal levels for certification and licensure requirements for clinical laboratory facilities under the Clinical Laboratory Improvement Amendments (CLIA) program. Under these emergency conditions, the California Department of Public Health (CDPH) was willing to temporarily extend—once the appropriate regulatory requirements have been fulfilled—an existing CLIA certificate for high-complexity testing to a non-contiguous building on our university campus.”

“These developments,” wrote Doudna, “enabled us to develop and validate a laboratory-developed test (LDT) for SARS-CoV-2, extend the UC Berkeley Student Health Center’s clinical laboratory license to our laboratory space, and begin testing patient samples.”

Lessons Learned Implementing a Pop-Up COVID-19 Testing Laboratory

“Our procedures for implementing the technical, regulatory, and data management workstreams necessary for clinical sample processing provide a roadmap to others in setting up similar testing centers,” she wrote. 

Learned strategies Doudna says could aid other academic research labs transform to a “SARS-CoV-2 Diagnostic Testing Laboratory include:

  • Leveraging licenses from existing CLIA-certified labs;
  • Following FDA authorized testing procedures;
  • Using online HIPAA training;
  • Managing supply chain “bottlenecks” by using donated equipment;
  • Adopting in-house sample barcoding;
  • Adapting materials, such as sampling tubes, to work with donated equipment;
  • Reaching out for donations of personal protective equipment (PPE).

Cost of equipment and supplies (not including staff) was $550,000, with a per test cost of $24, Doudna noted.  

“As the COVID-19 pandemic continues, our intention is to provide both PCR-based diagnostic testing and to advance research on asymptomatic transmission, analyze virus sequence evolution, and provide benchmarking for new diagnostic technologies,” she added.

Medical laboratory leaders understand that the divide between clinical and research laboratories is not easy to surmount. Nevertheless, UC Berkley’s IGI pulled it off. The lab marshaled resources as it took on the novel coronavirus, quickly developed and validated a test workflow, and assembled and trained staff to analyze tests with fast TAT to providers, students, and area residents. There’s much that can be learned from UC Berkeley IGI’s accomplishments.

—Donna Marie Pocius

Related Information:

Berkeley Scientists Spin Up a Robotic COVID-19 Testing Lab

IGI Launches Major Automated COVID-19 Diagnostic Testing Initiative

Berkeley Lab Pivots from Editing DNA to Processing COVID-10 Tests

Governor Newsom Declares State of Emergency to Help State Prepare for Broader Spread of COVID-19

Governor Newsom Issues New Executive Order Further Enhancing State and Local Government’s Ability to Respond to COVID-19 Pandemic

Jennifer Doudna’s Berkeley Institute Launches COVID-19 Testing Lab

UC Berkeley to Test 5,000 Healthy People in Bay Area for Coronavirus

Blueprint for a Pop-up SARS-CoV-2 Testing Lab

CRISPR Pioneer Doudna Opens Lab to Run COVID-19 Tests

A Tale of Two Countries: As the US Ramps Up Medical Laboratory Tests for COVID-19, the United Kingdom Falls Short

Media reports in the United Kingdom cite bad timing and centralization of public health laboratories as reasons the UK is struggling to meet testing goals

Clinical pathologists and medical laboratories in UK and the US function within radically different healthcare systems. However, both countries faced similar problems deploying widespread diagnostic testing for SARS-CoV-2, the novel coronavirus that causes COVID-19. And the differences between America’s private healthcare system and the UK’s government-run, single-payer system are exacerbating the UK’s difficulties expanding coronavirus testing to its citizens.

The Dark Daily reported in March that a manufacturing snafu had delayed distribution of a CDC-developed diagnostic test to public health laboratories. This meant virtually all testing had to be performed at the CDC, which further slowed testing. Only later that month was the US able to significantly ramp up its testing capacity, according to data from the COVID Tracking Project.

However, the UK has fared even worse, trailing Germany, the US, and other countries, according to reports in Buzzfeed and other media outlets. On March 11, the UK government established a goal of administering 10,000 COVID-19 tests per day by late March, but fell far short of that mark, The Guardian reported. The UK government now aims to increase this to 25,000 tests per day by late April.

This compares with about 70,000 COVID-19 tests per day in Germany, the Guardian reported, and about 130,000 per day in the US (between March 26 and April 14), according to the COVID Tracking Project.

“Ministers need to explain why the NHS [National Health Service] is not testing to capacity, why we are falling behind other countries, and what measures they will put in place to address this situation as a matter of urgency,” MP Keir Starmer (above) said in Parliament in late March, The Guardian reported. (Photo copyright: The Guardian.)

What’s Behind the UK’s Lackluster COVID-19 Testing Response

In January, when the outbreak first hit, Public Health England (PHE) “began a strict program of contact tracing and testing potential cases,” Buzzfeed reported. But due to limited medical laboratory capacity and low supplies of COVID-19 test kits, the government changed course and de-emphasized testing, instead focusing on increased ICU and ventilator capacity. (Scotland, Wales, and Northern Ireland each have separate public health agencies and national health services.)

Later, when the need for more COVID-19 testing became apparent, UK pathology laboratories had to contend with global shortages of testing kits and chemicals, The Guardian reported. At present, COVID-19 testing is limited to healthcare workers and patients displaying symptoms of pneumonia, acute respiratory distress syndrome, or influenza-like illness, PHE stated in “COVID-19: Investigation and Initial Clinical Management of Possible Cases” guidance.

Another factor that has limited widespread COVID-19 testing is the country’s highly-centralized system of public health laboratories, Buzzfeed reported. “This has limited its ability to scale and process results at the same speed as other countries, despite its efforts to ramp up capacity,” Buzzfeed reported. Public Health England, which initially performed COVID-19 testing at one lab, has expanded to 12 labs. NHS laboratories also are testing for the SARS-CoV-2 coronavirus, PHE stated in “COVID-19: How to Arrange Laboratory Testing” guidance.

Sharon Peacock, PhD, PHE’s National Infection Service Interim Director, Professor of Public Health and Microbiology at the University of Cambridge, and honorary consultant microbiologist at the Cambridge clinical and public health laboratory based at Addenbrookes Hospital, defended this approach at a March hearing of the Science and Technology Committee (Commons) in Parliament.

“Laboratories in this country have largely been merged, so we have a smaller number of larger [medical] laboratories,” she said. “The alternative is to have a single large testing site. From my perspective, it is more efficient to have a bigger testing site than dissipating our efforts into a lot of laboratories around the country.”

Writing in The Guardian, Paul Hunter, MB ChB MD, a microbiologist and Professor of Medicine at University of East Anglia, cites historic factors behind the testing issue. The public health labs, he explained, were established in 1946 as part of the National Health Service. At the time, they were part of the country’s defense against bacteriological warfare. They became part of the UK’s Health Protection Agency (now PHE) in 2003. “Many of the laboratories in the old network were shut down, taken over by local hospitals or merged into a smaller number of regional laboratories,” he wrote.

US Facing Different Clinical Laboratory Testing Problems

Meanwhile, a few medical laboratories in the US are now contending with a different problem: Unused testing capacity, Nature reported. For example, the Broad Institute of MIT and Harvard in Cambridge, Mass., can run up to 2,000 tests per day, “but we aren’t doing that many,” Stacey Gabriel, PhD, a human geneticist and Senior Director of the Genomics Platform at the Broad Institute, told Nature. Factors include supply shortages and incompatibility between electronic health record (EHR) systems at hospitals and academic labs, Nature reported.

Politico cited the CDC’s narrow testing criteria, and a lack of supplies for collecting and analyzing patient samples—such as swabs and personal protective equipment—as reasons for the slowdown in testing at some clinical laboratories in the US.

Challenges Deploying Antibody Tests in UK

The UK has also had problems deploying serology tests designed to detect whether people have developed antibodies against the virus. In late March, Peacock told members of Parliament that at-home test kits for COVID-19 would be available to the public through Amazon and retail pharmacy chains, the Independent reported. And, Politico reported that the government had ordered 3.5 million at-home test kits for COVID-19.

However, researchers at the University of Oxford who had been charged with validating the accuracy of the kits, reported on April 5 that the tests had not performed well and did not meet criteria established by the UK Medicines and Healthcare products Regulatory Agency (MHRA). “We see many false negatives (tests where no antibody is detected despite the fact we know it is there), and we also see false positives,” wrote Professor Sir John Bell, GBE, FRS, Professor of Medicine at the university, in a blog post. No test [for COVID-19], he wrote, “has been acclaimed by health authorities as having the necessary characteristics for screening people accurately for protective immunity.”

He added that it would be “at least a month” before suppliers could develop an acceptable COVID-19 test.

Meanwhile, in the US, on April 1 the FDA issued an Emergency Use Authorization (EUA) for the qSARS-CoV-2 IgG/IgM Rapid Test developed by Cellex Inc. in N.C., the Washington Times reported. Cellex reported that its test had a 93.75% positive agreement with a PCR (polymerase chain reaction) test and a 96.4% negative agreement with samples collected before September 2019.

In the United States, the Cellex COVID-19 test is intended for use by medical laboratories. As well, many research sites, academic medical centers, clinical laboratories, and in vitro diagnostics (IVD) companies in the US are working to develop and validate serological tests for COVID-19.

Within weeks, it is expected that a growing number of such tests will qualify for a Food and Drug Administration (FDA) Emergency Use Authorization (EUA) and become available for use in patient care.

—Stephen Beale

Related Information:

Why the UK Failed to Get Coronavirus Testing Up to Speed

Even the US Is Doing More Coronavirus Tests than the UK. Here Are the Reasons Why

Fall in Covid-19 Tests Putting Lives at Risk, Critics Claim

UK Ministers Accused of Overstating Scale of Coronavirus Testing

Coronavirus: Government Sets Target for 100,000 Tests Per Day by End of Month

Coronavirus Test: UK To Make 15-Minute At-Home Kits Available ‘Within Days’

Coronavirus: Can I Get a Home Testing Kit and What Is an Antibody Test?

Covid-19 Testing in the UK: Unpicking the Lockdown

Current COVID-19 Antibody Tests Aren’t Accurate Enough for Mass Screening, Say Oxford Researchers

Thousands of Coronavirus Tests Are Going Unused in US Labs

Exclusive: The Strongest Evidence Yet That America Is Botching Coronavirus Testing

Coronavirus Testing Hits Dramatic Slowdown in US

Coronavirus Testing Is Starting to Get Better—But It Has a Long Way to Go

Was It Flu or the Coronavirus? FDA Authorizes First COVID-19 Antibody Test

Medical Laboratories Need to Prepare as Public Health Officials Deal with Latest Coronavirus Outbreak

Mayo Clinic Researchers Investigate Ways Telomeres Could be Useful in Clinical Laboratory Diagnoses of Diseases Associated with Short Telomere Syndrome

Using precision genomics, Mayo researchers hope to develop improved medical laboratory tools for screening, diagnosing, and treating patients with inherited genetic disorders such as accelerated aging

Telomeres increasingly are on the radars of physicians and healthcare consumers alike, as researchers gain more knowledge about these critical nucleotides, and doctors continue to indicate their belief that telomeres could make useful diagnostic tools. If so, that would open up a new channel of precision medicine testing for clinical laboratories and anatomic pathology groups.

Telomeres are DNA strands that protect chromosome end points from degrading as people age. Their job is similar to the way plastic tips keep shoelaces from fraying, researchers at the Mayo Clinic explained in a news release. They have been using precision genomics in their assessment of 17 patients with short telomere syndrome (STS) to uncover the genetic causes of the condition.

They published their findings in the July issue of Mayo Clinic Proceedings.

Using Genetic Sequencing to Find Causes of Short Telomeres

People with STS could develop conditions including bone marrow failure, liver disease, and lung disease earlier in life than others, the news release pointed out.

However, according to the researchers’ paper, “Management of STSs is fraught with significant challenges such as delayed diagnoses, lack of routinely available diagnostics modalities, and standardized treatment guidelines.”

Nevertheless, some physicians are already leveraging information about telomeres in patient treatment. And many consumers have been turning to telomere diagnostic testing companies to learn the lengths of their own telomeres. They’ve learned that the longer the telomeres the better, as shorter telomeres are associated with accelerated aging.

“The length of certain telomeres gives a history of all the assaults a person has been subject to over the course of her lifetime,” a Wired article noted, quoting Joseph Raffaele, MD, co-founder of PhysioAge Medical Group, a clinical practice in New York City that specializes in “proactive” medicines. He goes on to call telomeres “the new cholesterol.” (Photo copyright: drraffaele.com.)

More Study into STS is Needed

GenomeWeb summarized the Mayo study’s methodology as follows:

  • “An analysis of data from 17 patients with STS confirmed by flow-FISH (fluorescence in situ hybridization) occurred;
  • Next-generation sequencing (NGS) was used on eight STS-related genes; and,
  • Exome sequencing was deployed to find suspicious germline alterations in participants who had short telomeres without STS variants.”

Researchers reported these findings in Mayo Clinic Proceedings:

Study authors concluded that while some genetic mutations are common to short telomeres, they were found in only about 40% of the people in their study. So, more research is needed to discover other causes of short telomeres.

Telomeres and Lung Disease

Other research into telomeres was conducted by St. Paul’s Hospital and the University of British Columbia Department of Medicine, which focused on telomeres and lung disease.

In this study, researchers used polymerase chain reaction (PCR) to measure absolute telomere length from blood samples provided by 576 people with chronic obstructive pulmonary disease (COPD), according to a paper in the journal CHEST, published by the American College of Chest Physicians.

The study found that when compared to people with normal blood telomeres, people with shorter telomere lengths and more rapidly aging blood cells:

  • Were 50% more likely to develop new or increasing respiratory symptoms;
  • Were nine times more likely to die; and,
  • Had worse health status and quality of life.

“It is known that short telomeres are associated with common morbidities of COPD, but it was not known if there is a relationship between blood telomeres and patient-related outcomes in COPD,” Don Sin, MD, a chest physician who led the research at the Centre for Heart Lung Innovation at St. Paul’s Hospital, stated in a news release.

Other Takes on Telomeres

A Harvard Medical blog noted, however, that short telomeres do not necessarily mean disease is imminent, nor that long ones guarantee optimal health.

“There is mounting evidence that a healthy lifestyle buffers your telomeres,” stated Immaculata De Vivo, PhD, a Harvard Medical School Professor and Genetics Researcher at the Dana-Farber/Harvard Cancer Center, in the blog post.

However, another expert questions the value of measuring telomeres for disease risk.

“In short, telomere lengths are too variable within a population, too variable within an individual, and too sensitive to environmental factors to offer any reliable information for common disease risk,” wrote Ricki Lewis, PhD, in PLOS.

Although there are many pitfalls to overcome, some doctors are pushing to use telomere information in patient treatment, and these studies from the Mayo Clinic and other researchers have contributed important data for diagnostic test developers.

In the end, vast and varied content about telomeres exists and clinical laboratory professionals may be called on to help clarify and assess the information. And that’s the long and the short of it.

—Donna Marie Pocius

Related Information:

Precision Genomics Point the Way to Mutations Associated with Accelerated Aging

Telomeres Are the New Cholesterol. Now What?

Clinical Correlates and Treatment Outcomes for Patients with Short Telomeres Syndrome

Mayo Clinic Researchers Use Targeted Sequencing to Diagnose Short Telomere Syndrome

Relationship of Absolute Telomere Length with Quality of Life, Exacerbations, and Mortality in COPD

Blood Telomeres Can Help Predict Risk of Disease Worsening or Death in COPD Patients

Can DNA Markers Called Telomeres Predict Aging?

Telomere Testing: Science or Snake Oil?

White Paper Download | How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians

Summit: Breakthroughs with Genetic and Precision Medicine: What All Health Network CEOs Need to Know

Could Clinical Laboratories and Pathologists Have a New Use for DNA as a Data Storage Technology?

Researchers in Boston are working to develop DNA as a low-cost, effective way to store data; could lead to new molecular technology industries outside of healthcare

Even as new insights about the role of DNA in various human diseases and health conditions continue to tumble out of research labs, a potential new use for DNA is emerging. A research team in Boston is exploring how to use DNA as a low-cost, reliable way to store and retrieve data.

This has implications for the nation’s clinical laboratories and anatomic pathology groups, because they are gaining experience in sequencing DNA, then storing that data for analysis and use in clinical care settings. If a way to use DNA as a data storage methodology was to become reality, it can be expected that medical laboratories will have the skillsets, experience, and information technology infrastructure already in place to offer a DNA-based data storage service. This would be particularly true for patient data and healthcare data.

Finding a way to reduce the cost of data storage is a primary reason why scientists are looking at ways that DNA could be used as a data storage technology. These scientists and technology developers seek ways to alleviate the world’s over-crowded hard drives, cloud servers, and databases. They hope this can be done by developing technologies that store digital information in artificially-made versions of DNA molecules.

The research so far suggests DNA data storage could be used to store data more effectively than existing data storage solutions. If this proves true, DNA-based data storage technologies could play a key role in industries outside of healthcare.

If so, practical knowledge of DNA handling and storage would be critical to these companies’ success. In turn, this could present unique opportunities for medical laboratory professionals.

DNA Data Storage: Durable but Costly

Besides enormous capacity, DNA-based data storage technology offers durability and long shelf life in a compact footprint, compared to other data storage mediums.

“DNA has an information-storage density several orders of magnitude higher than any other known storage technology,” Victor Zhirnov, PhD, Chief Scientist and Director, Semiconductor Research Corporation, told Wired.

However, projected costs are quite high, due to the cost of writing the information into the DNA. However, Catalog Technologies Inc. of Boston thinks it has a solution.

Rather than producing billions of unique bits of DNA, as Microsoft did while developing its own DNA data storage solution, Catalog’s approach is to “cheaply generate large quantities of just a few different DNA molecules, none longer than 30 base pairs. Then [use] billions of enzymatic reactions to encode information into the recombination patterns of those prefab bits of DNA. Instead of mapping one bit to one base pair, bits are arranged in multidimensional matrices, and sets of molecules represent their locations in each matrix.”

The Boston-based company plans to launch an industrial-scale DNA data storage service using a machine that can daily write a terabyte of data by leveraging 500-trillion DNA molecules, according to Wired. Potential customers include the entertainment industry, federal government, and information technology developers.

Catalog is supported by $9 million from investors. However, it is not the only company working on this. Microsoft and other companies are reportedly working on DNA storage projects as well.

“It’s a new generation of information storage technology that’s got a million times the information density, compared to flash storage. You can shrink down entire data centers into shoeboxes of DNA,” Catalog’s CEO, Hyunjun Park, PhD (above center, between Chief Science Officer Devin Leake on left and Milena Lazova, scientist, on right), told the Boston Globe. (Photo copyright: Catalog.)

Microsoft, University of Washington’s Synthetic DNA Data Storage

Microsoft and researchers at the University of Washington (UW) made progress on their development of a DNA-based storage system for digital data, according to a news release. What makes their work unique, they say, is the large-scale storage of synthetic DNA (200 megabytes) along with the ability to the retrieve data as needed.

“Synthetic DNA is durable and can encode digital data with high density, making it an attractive medium for data storage. However, recovering stored data on a large-scale currently requires all the DNA in a pool to be sequenced, even if only a subset of the information needs to be extracted,” the researchers wrote in their paper published in Nature Biotechnology.

“Here, we encode and store 35 distinct files (over 200 megabytes of data ) in more than 13-million DNA oligonucleotides and show that we can recover each file individually and with no errors, using a random access approach,” the researchers explained.

“Our work reduces the effort, both in sequencing capacity and in processing, to completely recover information stored in DNA,” Sergey Yekhanin, PhD, Microsoft Senior Researcher, told Digital Trends.

Successful research by Catalog, Microsoft, and others may soon lead to the launch of marketable DNA data storage services. And medical laboratory professionals who already know the code—the life code that is—will likely find themselves more marketable as well!

—Donna Marie Pocius

Related Information:

The Rise of DNA Data Storage

The Next Big Thing in Data Storage is Actually Microscopic

Catalog Hauls in $9 Million to Make DNA-Based Data Storage Commercially Viable

UW and Microsoft Researchers Achieve Random Access in Large-Scale DNA Data Storage

Random Access in Large-Scale DNA Data Storage

Microsoft and University of Washington Show DNA Can Store Data in Practical Way

Biomarker Trends Are Auspicious for Pathologists and Clinical Laboratories

Few anatomical tools hold more potential to revolutionize the science of diagnostics than biomarkers, and pathologists and medical laboratories will be first in line to put these powerful tools to use helping patients with chronic diseases

There’s good news for both anatomic pathology laboratories and medical laboratories worldwide. Large numbers of clinically-useful new biomarkers continue to be validated and are in development for use in diagnostic tests and therapeutic drugs.

Clinical laboratories rely on biomarkers for pathology tests and procedures that track and identify infections and disease during the diagnostic process. Thus, trends that highlight the critical role biomarkers play in medical research are particularly relevant to pathology groups and medical laboratories.

Here’s an overview of critical trends in biomarker research and development that promise to improve diagnosis and treatment of chronic disease.

Emerging Use of Predictive Biomarkers in Precision Medicine

Recent advances in whole genome sequencing are aiding the development of highly accurate diagnostics and treatment plans that involve the development and use of Predictive Biomarkers that improve Precision Medicine (PM).

PM involves an approach to healthcare that is fine-tuned to each patient’s unique condition and physiology. As opposed to the conventional one-size-fits-all approach, which looks at the best options for the average person without examining variations in individual patients.

Predictive biomarkers identify individuals who will most likely respond either favorably or unfavorably to a drug or course of treatment. This improves a patient’s chance to receive benefit or avoid harm and goes to the root of Precision Medicine. (Image copyright: Pennside Partners.)

The National Institutes of Health (NIH) defines PM as “an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle for each person.” It gives physicians and researchers the ability to more accurately forecast which prevention tactics and treatments will be optimal for certain patients.

Combining Drugs for Specific Outcomes

Cancer treatment will be complimented by the utilization of combination drugs that include two or more active pharmaceutical ingredients. Many drug trials are currently being performed to determine which combination of drugs will be the most favorable for specific cancers.

Combination drugs should become crucial in the treatment of different cancers treatments, such as immunotherapy, which involves treating disease by inducing, enhancing, or suppressing an immune response.

Biomarkers associated with certain cancers may enable physicians and researchers to determine which combination drugs will work best for each individual patient.

Developing More Effective Diagnostics

In Vitro diagnostics (IVDs) are poised for massive growth in market share. A report by Allied Market Research, states the worldwide IVD market will reach $81.3 billion by 2022. It noted that IVD techniques in which bodily fluids, such as blood, urine, stool, and sputum are tested to detect disease, conditions, and infections include important technologies such as:

Allied Market Research expects growth of the IVD market to result from these factors:

  • Increases in chronic and infectious diseases;
  • An aging population;
  • Growing knowledge of rare diseases; and
  • Increasing use of personalized medicines.

The capability to sequence the human genome is further adding to improvements in diagnostic development. Pharmaceutical companies can generate diagnostic counterparts alongside related drugs.

Biopsies from Fluid Sources

Millions of dollars have been spent on developing liquid biopsies that detect cancer from simple blood draws. The National Cancer Institute Dictionary of Cancer Terms defines a liquid biopsy as “a test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood.”

At present, liquid biopsies are typically used only in the treatment and monitoring of cancers already diagnosed. Companies such as Grail, a spinoff of Illumina, and Guardant Health are striving to develop ways to make liquid biopsies a crucial part of cancer detection in the early stages, increasing long-term survival rates.

“The holy grail in oncology has been the search for biomarkers that could reliably signal the presence of cancer at an early stage,” said Dr. Richard Klausner, Senior Vice President and Chief Medical Officer at Grail.

Grail hopes to market a pan-cancer screening test that will measure circulating nucleic acids in the blood to detect the presence of cancer in patients who are experiencing no symptoms of the disease.

Clinical Trials and Precision Medicine

The Precision Medicine Initiative (PMI), launched by the federal government in 2015, investigates ways to create tailor-made treatments and prevention strategies for patients based on their distinctive attributes.

Two ongoing studies involved in PMI research are MATCH and TAPUR:

  1. MATCH (Molecular Analysis for Therapy Choice) is a clinical trial run by The National Cancer Institute. The researchers are studying tumors to learn if they possess gene abnormalities that are treatable by known drugs.
  2. TAPUR (Targeted Agent and Profiling Utilization Registry), is a non-randomized clinical trial being conducted by the American Society of Clinical Oncology (ASCO). The researchers are chronicling the safety and efficacy of available cancer drugs currently on the market.

New Tools for Pathologists and Clinical Laboratories

The attention and funds given to these types of projects expand the possibilities of being able to develop targeted therapies and treatments for patients. Such technological advancements could someday enable physicians to view and treat cancer as a product of specific gene mutations and not just a disease.

These trends will be crucial and favorable for clinical laboratories in the future. As tests and treatments become unique to individual patients, pathologists and clinical laboratories will be on the frontlines of providing advanced services to healthcare professionals.

—JP Schlingman

Related Information:

5 Trends Being Impacted by Biomarkers

Immuno-Oncology Stories of 2016

Bristol-Myers Leads Immune-Oncology Race but Merck, Astrazeneca and Roche Still Have Contenders

Five Companies to Watch in the Liquid Biopsy Field

Illumina Spinoff GRAIL to Trial Liquid Biopsies for Early Detection of Cancer

Illumina Forms New Company to Enable Early Cancer Detection via Blood-Based Screening

A to Z List of Cancer Drugs

Personalized Medicine and the Role of Predictive vs. Prognostic Markers

Understanding Prognostic versus Predictive Biomarkers

NCI-MATCH Trial (Molecular Analysis for Therapy Choice)

Six Months of Progress on the Precision Medicine Initiative

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