By Terri Somers
Senior Manager, Global PR and StoryLab
INSIDE research centers around the world, row after row of upright ultra-low-temperature freezers hum. Behind their heavily insulated doors, at roughly minus 80 degrees Celsius, metal racks hold boxes filled with tiny, barcoded tubes. A single freezer can hold more than 100,000 samples of blood, plasma, tissue and other biological materials in individual tubes. Some have been there for decades.
Each belongs to someone whose life continued after that sample was collected. Some remained healthy. Others developed cancer, heart disease, diabetes or dementia years later. Some responded to medicines; others didn't. And as their lives unfolded, scientists gained something they didn't have when the blood was drawn: the rest of the story.
Collections like these - biological samples linked to information about the people who provided them - are known as biobanks.
"A biobank is very much a collection of stories and narratives," said David Brazel, Ph.D., vice president of data sciences at Octave Bioscience.
Biobanks have existed in various forms for generations. What's different now is what scientists can learn from them. Advances in genomics, proteomics, computing, analytics and AI let researchers return to samples collected years ago and uncover clues they couldn't see before. The discoveries are convincing governments and health systems around the world to invest in a new generation of them.
Today, researchers can look across thousands of samples for clues that repeat - the same proteins, for example, behaving differently in people who later develop the same disease. Then they can return to a single tube and the person behind its barcode and ask: Was the warning already there?
Increasingly, the answer is yes.
7+ yearsBefore cancer diagnosis |
10+ yearsBefore dementia diagnosis |
Using Thermo Fisher Scientific’s Olink™ technology to analyze blood donated to UK Biobank, researchers have found proteins associated with cancer more than seven years before diagnosis. Another study found protein changes that could predict dementia more than a decade before diagnosis. They show what is becoming possible: finding traces of illness before a person knew anything was wrong.
Three generations of Framingham Heart Study participants.
"There's a little bit of a Field of Dreams mentality when establishing a new biobank. You know, if you build it, then they will come," said Christopher Whelan, Ph.D., a geneticist and neuroscientist, who later founded the UK Biobank Pharma Proteomics Project, an industry consortium created to measure thousands of proteins in tens of thousands of UK Biobank participants. Scientists understood that such samples would one day be valuable, he said, but "it's probably impossible to predict just how valuable they turned out to be."
One of the first breakthroughs came when scientists gained powerful new ways to compare genetic variation across thousands - and eventually hundreds of thousands - of people.
UK Biobank supercharged that search. Beginning in 2006, it recruited about 500,000 people and later used Affymetrix® genotyping arrays, technology now part of Thermo Fisher, to scan genetic variation across nearly the entire cohort.
But those genetic discoveries also exposed how much scientists still couldn't see.
"We couldn't reliably map the present tense," Whelan said.
GenomicsExamines genetic variationLargely fixed throughout lifeCan reveal disease predispositionOne layer of biology |
ProteomicsExamines proteinsDynamic and changingCan reflect current biological stateA complementary layer
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DNA can reveal that someone was born with a higher risk of developing a disease. But a person's genetic code is largely fixed throughout life. It can't necessarily tell researchers what's happening inside that person's body today.
That question opened another window: proteomics, the study of thousands of proteins at a time. Proteins are the molecules that perform most functions in living systems. They build and maintain cells, carry signals between cells, regulate the immune system, and help shape whether disease advances or stalls. Protein levels can change with age, disease, diet, infection, environmental exposures and immune responses.
Yan Zhang, Ph.D., president, proteomic sciences at Thermo Fisher Scientific.
There was a time, recalled John Chambers, MBBS, Ph.D., chief scientific officer of PRECISE, which leads Singapore's National Precision Medicine program, when some in the scientific community wondered whether the world needed more resources like UK Biobank: "We've got UK Biobank. That's enough."
Not anymore.
"Now, there's a real excitement," Chambers said. "Let's do more."
The reason isn't simply to collect more samples. Different populations can reveal different biology. What people eat, where they live and the environments and exposures they encounter can leave traces in their proteins, potentially revealing disease clues that studies elsewhere might miss.
"Governments are starting to see biobanks not simply as research projects, but as investments in the health of their populations, investments that could help people live longer, healthier lives while ultimately reducing the cost of care," said Tim Fenton, vice president of government relations at Thermo Fisher.
The Thermo Scientific™ Orbitrap™ Astral™ mass spectrometer
Singapore's SG100K population study shows why another population can add something new. The study is following more than 100,000 people, including Asian populations historically underrepresented in large biomedical datasets, to better understand how lifestyle, environmental and other factors contribute to diseases such as diabetes, hypertension and cancer. Thermo Fisher is collaborating with PRECISE to apply Olink™ proteomics and the Thermo Scientific™ Orbitrap™ Astral™ mass spectrometer to that search.
"The big-ticket item ... is the missed opportunities for discovery," Chambers said of the need for greater diversity. "Discoveries that don't just benefit Asia but benefit the world."
Modern biobanks are also becoming more than banks.
"The traditional biobank design is a single snapshot of observation," Chambers said. Newer programs can keep learning as participants' health, diets, environments and exposures change.
PRECISE is pushing that evolution one step further by deliberately connecting discovery with healthcare.
"What is unique about what we've done is seeing that there was a translational gap previously in cohort work and we bonded those two things together," Chambers said.
Doug Biehn, CEO of Octave Bioscience
David Brazel, Ph.D., vice president of data sciences at Octave Bioscience
Machine learning helps combine those signals into interpretable scores. Brazel describes the goal as making "the complexity of biology digestible for a patient and clinician when they're sitting in an exam room making a difficult decision."
For Biehn, it represents "the big shift" in medicine: "moving from the subjective reactive to the quantitative proactive."
A recent study found that the MSDA Test could help identify MRI-confirmed active disease in patients with new symptoms, giving physicians another clue to distinguish a true relapse from other causes.
"Now it's a shared decision-making situation versus a trial-and-error situation," Biehn said.
Such biological signals are called biomarkers. Properly validated, they can become early warnings, diagnostics or treatment guides, and can reveal drug targets that ultimately lead to new medicines.
Every new scientific capability seems to answer one set of questions and expose another.
Genomics revealed both the power and the limits of what scientists could learn from DNA. Proteomics opened another window. Now researchers are looking at biology with still greater resolution, down to individual cells and their surroundings.
John Chambers, Ph.D., chief scientific officer of PRECISE
Whelan has watched that cycle before: genomics revealed questions genetics couldn't answer and helped propel scientists toward proteomics. Now proteomics is exposing the next set of questions.
The destination isn't simply more data.
"I think ultimately we'll move from disease treatment to disease prevention," Whelan said. His hope is that molecular measurements will one day allow doctors to spot changes in healthy people early enough to intervene before disease takes hold.
Zhang imagines that future becoming remarkably ordinary: a routine physical could someday include proteomics alongside familiar blood measurements. "I may not necessarily just call it a biobank anymore," she said. "Biobank is what gets us started."
Perhaps the strongest evidence of the optimism surrounding that future isn't found in a laboratory at all.
In Singapore, Chambers said, what resonated most with potential SG100K participants was the possibility of improving life for their children, grandchildren and future generations. PRECISE now has roughly two years' worth of people waiting to participate.
“We found that what really motivates people is the emphasis that we’re trying to make a better future,” he said.
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