Study is expected to result in new clinical laboratory test biomarkers based on proteins shown to be associated with specific diseases
In January, the UK Biobank announced the launch of the “world’s most comprehensive study” of the human proteome. The study focuses on proteins circulating throughout the human body. Researchers involved in this endeavor hope the project will transform disease detection and lead to clinical laboratory blood tests that help diagnosticians identify illnesses earlier than with conventional diagnostics.
Building on the results of a 2023 pilot project that studied “the effects of common genetic variation on proteins circulating in the blood and how these associations can contribute to disease,” according to a UK Biobank news release, the 2025 UK Biobank Pharma Proteomics Project (UKB-PPP) plans to analyze up to 5,400 proteins in 600,000 samples to explore how an individual’s protein levels changes over time and how those changes may influence the existence of diseases in mid-to-late life.
The specimens being analyzed include 500,000 samples extracted from UK Biobank participants and an additional 100,000 set of second samples taken from volunteers up to 15 years later.
“The data collected in the study will allow scientists around the world to conduct health-related research, exploring how lifestyle, environment, and genetics lead through proteins to some people developing particular diseases, while others do not,” Sir Rory Collins, FMedSci FRS, professor of medicine and epidemiology at University of Oxford and principal investigator and chief executive of the UK Biobank, told The Independent.
“That will allow us to identify who it is, who’s likely to develop disease well before they do, and we can then look at ways in which to prevent those conditions before they develop,” he added.
“It really might be possible to develop simple blood tests that can detect disease much earlier than currently exists,” said Naomi Allen, MSc, DPhil (above), chief scientist for UK Biobank and professor of epidemiology at Oxford Population Health, University of Oxford, in an interview with The Independent. “So, it adds a crucial piece in the jigsaw puzzle for scientists to figure out how disease develops and gives us firm clues on what we can do to prevent and treat it.” Clinical laboratories may soon have new test biomarkers that help identify proteins associated with specific diseases. (Photo copyright: UK Biobank.)
Developing New Protein-based Biomarkers
A proteome is the entire set of proteins expressed by an organism, cell, or tissue and the study of the proteome is known as proteomics. The proteome is an expression of an organism’s genome, but it can change over time between cell types and growth conditions.
The human genome contains approximately 20,000 genes and human cells have between 80,000 and 400,000 proteins with specific cells having their own proteomes. Proteomics can help ascertain how proteins function and interact with each other and assist in the identification of biomarkers for new drug discoveries and development.
“This is hugely valuable, because it will enable researchers to see how changes in protein levels within individuals over mid- to late-life influence the development of a whole range of different diseases,” said Naomi Allen, MSc, DPhil, chief scientist for UK Biobank and professor of epidemiology at the Oxford Population Health, University of Oxford, in The Independent. “It will accelerate research into the causes of disease and the development of new treatments that target specific proteins associated with those diseases.
“The pilot data is already showing that specific proteins are elevated in those who go on to develop many different types of cancers up to seven years before a clinical diagnosis is made. And for dementia, up to 10 years before clinical diagnosis is made,” she added.
According to the project’s website, the UK Biobank’s proteomics dataset will allow researchers to:
Examine proteomic and genetic data from half a million people to provide a more detailed picture of the biological processes involved in disease progression.
Examine how and why protein levels change over time to understand age-related changes in healthy individuals.
Utilize proteomic data together with imaging data to understand disease mechanisms.
“Data from the pilot study has shown that specific proteins are substantially elevated in individuals with autoimmune conditions like multiple sclerosis and Crohn’s disease and so on,” Allen noted. “So, you can see how a simple blood test could be used to complement existing diagnostic measures in order to diagnose these types of diseases more accurately and perhaps more quickly.”
An Invaluable Resource of Knowledge
The initial UK Biobank started in 2006 and, to date, has collected biological and medical data from more than half a million individuals. The subjects of the UKB-PPP study are between the ages of 40 and 69 and reside in the UK. The database is globally accessible to approved researchers and scientists engaging in research into various diseases.
The full dataset of the latest research is expected to be added to the UK Biobank Research Analysis Platform by the year 2027. The newest study is backed by a consortium of 14 pharmaceutical firms.
Allen also noted that evidence from the research has emphasized how some drugs may be useful in treating a variety of conditions.
“Some proteins that are known to be important for immunity are related to developing a range of psychiatric conditions like schizophrenia, depression, bipolar disorder and so on,” she told The Independent. “And given there are drugs already available that specifically target some of these proteins that are used for other conditions, it presents a real opportunity for repurposing those existing drugs for these neuropsychiatric conditions.”
This type of comprehensive study of the human proteome may have a great impact on patient diagnosis and treatment once the study is completed and the results are disclosed.
“The data will be invaluable. The value of the data is infinite,” Collins told The Independence.
Since it is clinical laboratories that will be engaged in testing for proteins that have become associated with specific diseases, this new UK Biobank study has the potential to expand knowledge about useful protein markers for both diagnosis and therapeutic solutions (prescription drugs).
Court documents show Holmes’ defense strategy includes accusing ex-boyfriend and former COO Balwani of ‘intimate partner abuse’ that impacted her ‘state of mind’
It has started! The long-awaited criminal trial of former Theranos CEO Elizabeth Holmes is underway in a federal courthouse in Silicon Valley. Across the profession of medical laboratory medicine, there is keen interest in the story of Holmes and her now-defunct clinical laboratory company Theranos.
This next chapter in the drama began on September 8 with opening arguments. Federal prosecutors came out strong, claiming Holmes was “a manipulative fraudster who duped investors and patients alike and knew the whole time that she was hoodwinking them,” according to NPR.
“This is a case about fraud, about lying, and cheating to get money,” said Assistant US Attorney Robert Leach, NPR reported. “It’s a crime on Main Street, and it’s a crime in Silicon Valley,” he added.
Not surprisingly, Holmes’ defense team had a different take, claiming Holmes was simply “a hardworking, young startup executive who believed in the mission of the company, only to see it buckle in the face of business obstacles,” NPR reported. “They argued that she placed blind faith in the No. 2 executive at the company [Balwani] and overly trusted lab directors, who the defense team says were legally responsible for how the labs were run.”
Holmes Claims Abuse at the Hands of Former Theranos COO Balwani
Many pathologists and clinical laboratory managers are ready to watch and learn what unfolds in the opening stages of Holmes’ long-delayed federal criminal fraud trial. During the jury selection process, recently unsealed court documents showed that Holmes’ defense planned to include claims she was abused by her then boyfriend, Theranos Chief Operating Officer Ramesh Balwani.
This surprising development adds yet another twist to the tale of the disgraced Silicon Valley executive and her defunct clinical laboratory testing company.
The hype surrounding the once-high flying startup, which in 2015 reached a peak valuation of $9 billion, began unraveling that same year when a Wall Street Journal (WSJ) investigation exposed the company’s alleged deceptions and questionable practices related to its finger-prick blood-testing technology.
Fast-forward six years—Theranos is now gone but its top executive continues to make headlines, not as a laboratory science wunderkind, but as a criminal defendant.
Holmes, 37, has pleaded not guilty to all charges. Her former consort and ex-Theranos COO Ramesh Balwani also pleaded not guilty to all charges. He will be tried separately from Holmes.
Elizabeth Holmes, founder and former CEO of defunct clinical laboratory testing company Theranos, is seen leaving the Robert F. Peckham US Courthouse with husband William Evans following opening arguments in her federal trial on September 8. (Photo copyright: Reuters/Peter DaSilva.)
Dozens of Potential Jurors Removed for Alleged Bias
On August 31, in-person questioning of prospective jurors began in Holmes’ federal fraud trial in San Jose, California. The process did not go well. As CNBC reported, dozens of potential jurors were removed from the jury pool due to potential bias in the case.
“Thirty to forty of the remaining jurors have consumed substantial, and I mean lengthy extrajudicial material, about the case and about the defendant,” defense attorney Kevin Downey, JD of Washington, D.C.-based Williams and Connolly, LLP, told Judge Edward Davila, CNBC reported. “We’re very vulnerable to any of the jurors commenting in some ways as either the court or lawyers conduct voir dire about the content of the media they’ve seen.”
Voir dire is the legal term for preliminary examinations of jurors, which in this initial screening was done by reviewing potential juror questionnaires.
Holmes’ defense attorneys, according to CNBC, previously expressed concerns about “inflammatory” media coverage of the case. However, Assistant US Attorney Jeffrey Schenk maintained, “Less than half of the individuals that filled out the questionnaire had prior exposure to Holmes and Balwani. One juror saying something during the voir dire process that could be overheard is a risk in every court case,” CNBC reported.
Holmes Claims ‘Mental Condition Bearing on Guilt’
A report by the Independent notes that newly unsealed court documents which were first reported by NPR reveal that Holmes will mount a defense that includes claims of “intimate partner abuse” by Balwani, 56, during their past relationship.
“The documents show that Ms. Holmes will describe how Mr. Balwani controlled what she ate and drank, how she dressed, and who she spoke to, while also alleging he threw ‘sharp’ objects at her,” the Independent reported.
NPR reported that court documents indicate Holmes is likely to take the stand and testify at her trial. She will not be presenting an insanity defense but will put forth a “defense of a mental condition bearing on guilt” that was the result of partner abuse and that impacted her “state of mind” at the time of the alleged crimes.
Court documents filed by Balwani’s defense attorneys label Holmes’ allegations as “salacious and inflammatory.”
“In truth, Ms. Holmes’ allegations are deeply offensive to Mr. Balwani, devastating personally to him and highly and unfairly prejudicial to his defense of this case,” defense attorney Jeffrey Coopersmith, JD, Principle and founder of Coopersmith Law and Strategy, wrote in the filing.
CNBC reported that Holmes gave birth on July 10, 2021, in Redwood, California. The baby’s father is William Evans, heir to the Evans Hotels chain in California, The Sun reported.
Balwani’s criminal fraud trial is scheduled to begin with jury selection on January 11, 2022. Both Holmes and Balwani face maximum penalties of 20 years in jail and a nearly $3 million fine, plus possible restitution if found guilty on all counts.
It is a rare thing for owners of a clinical laboratory company accused of fraud to come to trial and receive so much media attention. In the weeks leading up to the trial, medical laboratory managers and pathologists could read a wide variety of news stories about the impending trial and the legal strategies expected by the attorneys for both the plaintiffs and the defendants.
Thus, everyone interested in this trial and its outcome will likely have the equivalent of a front row seat because so many journalists are covering this trial.
Aging population and funding challenges could cause doctors in United States to shorten appointment slots for patients here as well
Across the globe, health systems share a common challenge: how to meet the steady increase in the number of patients demanding access to clinical care with a workforce of physicians, nurses, and clinicians that may be shrinking due to retirements and other factors. Pathologists and clinical laboratory managers will want to stay alert to these developments, because this same trend is at work within the United States.
The United Kingdom (UK) offers a good example of this problem. Claiming doctors are being “run into the ground,” general practitioners in the UK are calling for an end to the country’s standard 10-minute office visit and a decrease in the number of patients they see per week.
• Rising demand from an aging population with multiple health needs;
• Physician and staff shortage; and
• Inadequate federal government funding for healthcare.
Those factors also are at play within the United States (US) healthcare system. The possibility exists that health system administrators might want to create a standard of 10-minute appointment intervals as a norm for primary care physicians in this country. (more…)
Technology breakthrough might eventually be used by pathologists to help diagnose disease using in vivo diagnostic testing methods
Researchers at Stanford University are another step closer to understanding how to make DNA and RNA function like computer chips fabricated from silicon. Their work could eventually form the basis for new types of diagnostic services that could be offered by clinical laboratories and anatomic pathology groups.
Stanford Bioengineers Develop Final Component for Biological Computer
Bioengineers at Stanford University have engineered a genetic circuit to behave like a transistor in individual living cells, according to a story published by the San Jose Mercury News. The achievement represents the final component of a simple biological computer that functions within individual cells of the body.
These biological computers could be used in several ways. They could screen for cancer, or be used to detect the presence of toxic chemicals. Some experts believe they could be used to guard against disease, reported the Mercury News. (more…)
