Clinical laboratories and pathologists should expect to receive increase referrals from oncologists with younger patients
More people are getting serious cases of cancer at younger and younger ages. So much so that some anatomic pathologists and epidemiologists are using the term “Turbo Cancers” to describe “the recent emergence of aggressive cancers that grow very quickly,” Vigilant News reported.
Cancer continues to be the second leading cause of death in the United States and current trends of the disease appearing in younger populations are causing alarm among medical professionals and scientists.
“Because these cancers have been occurring in people who are too young to get them, basically, compared to the normal way it works, they’ve been designated as turbo cancers,” Harvey Risch, MD, PhD, Professor Emeritus of Epidemiology in the Department of Epidemiology and Public Health at the Yale School of Public Health and Yale School of Medicine, in an interview with Epoch TV’sAmerican Thought Leaders.
It’s anatomic pathologists who receive the biopsies and analyze them to diagnose the cancer. Thus, they are on the front lines of seeing an increased number of biopsies for younger patients showing up with the types of cancers that normally take many years to grow large enough to be discovered by imaging and lumps leading to biopsy and diagnosis. It’s a medical mystery that may have long term effects on younger populations.
“What clinicians have been seeing is very strange things,” said Harvey Risch, MD, PhD (above), Professor Emeritus of Epidemiology at the Yale School of Public Health and Yale School of Medicine, in an Epoch TV interview. “For example, 25-year-olds with colon cancer, who don’t have family histories of the disease—that’s basically impossible along the known paradigm for how colon cancer works—and other long-latency cancers that they’re seeing in very young people.” Epidemiologists and anatomic pathologists are describing these conditions as “turbo cancers.” (Photo copyright: Yale University.)
Early-Onset Cancer Rates Jump Sharply
According to the federal Centers for Disease Control and Prevention (CDC), about 3.3 million Americans died in 2022, and 607,800 of those deaths were attributed to cancer. This statistic translates to approximately 18.4% of US deaths being due to cancer last year.
An article published in the Journal of the American Medical Association titled, “Patterns in Cancer Incidence among People Younger than 50 Years in the US, 2010 to 2019,” states that the rates of cancer in people under the age of 50 has risen sharply in recent years. The study found that “the incidence rates of early-onset cancer increased from 2010 to 2019. Although breast cancer had the highest number of incident cases, gastrointestinal cancers had the fastest-growing incidence rates among all early-onset cancers.”
The largest increase in cancer diagnoses occurred in people in the 30 to 39-year-old age group. This number represents a jump of almost 20% for the years analyzed for individuals in that demographic. The researchers also found that cancer rates decreased in individuals over the age of 50.
Breast cancer, which increased by about 8% in younger people, accounted for the most diagnoses in this age group. However, the biggest increase was 15% for gastrointestinal cancers, including colon, appendix, bile duct, and pancreatic cancer.
Because cancer can recur or progress, researchers have concerns about what happens to young cancer patients as they grow older and what effect cancer may have on their lives.
“They are at a transitional stage in life,” Chun Chao, PhD, Research Scientist, Division of Epidemiologic Research at Kaiser Permanente, told The Hill. “If you think about it, this is the age when people are trying to establish their independence. Some people are finishing up their education. People are trying to get their first job, just start to establish their career. And people are starting new families and starting to have kids. So, at this particular age, having a cancer diagnosis can be a huge disruption to these goals.”
Sadly, young cancer survivors have a heightened risk of developing a second cancer and a variety of other health conditions, such as cardiovascular diseases and metabolic disorders.
Lifestyle a Factor in Increased Risk for Cancer
“The increase in early-onset cancers is likely associated with the increasing incidence of obesity as well as changes in environmental exposures, such as smoke and gasoline, sleep patterns, physical activity, microbiota, and transient exposure to carcinogenic compounds,” according to the JAMA study.
“Suspected risk factors may involve increasing obesity among children and young adults; also the drastic change in our diet, like increasing consumption of sugar, sweetened beverages, and high fat,” Hyuna Sung, PhD, Cancer Surveillance Researcher at the American Cancer Society, told US News and World Report. “The increase in cancers among young adults has significant implications. It is something we need to consider as a bellwether for future trends.”
“Increased efforts are required to combat the risk factors for early-onset cancer, such as obesity, heavy alcohol consumption, and smoking,” said Daniel Huang, MD, Assistant Professor of Medicine at the National University of Singapore, one of the authors of the study, in the US News and World Report interview.
Other studies also have shown a rise in so-called turbo cancers.
“Cancer as a disease takes a long time to manifest itself from when it starts. From the first cells that go haywire until they grow to be large enough to be diagnosed, or to be symptomatic, can take anywhere from two or three years for the blood cancers—like leukemias and lymphomas—to five years for lung cancer, to 20 years for bladder cancer, or 30 to 35 years for colon cancer, and so on,” Risch told the Epoch Times.
Not the Occurrence Oncologists Expect
“Some of these cancers are so aggressive that between the time that they’re first seen and when they come back for treatment after a few weeks, they’ve grown dramatically compared to what oncologists would have expected,” Risch continued. “This is just not the normal occurrence of how cancer works.”
Risch believes that damage to the immune system is the most likely cause of the rise in turbo cancers. He said the immune system usually recognizes, manages, and disables cancer cells so they cannot progress. However, when the immune system is impaired, cancer cells can multiply to the point where the immune system cannot cope with the number of bad cells.
It is a statistical fact that more people are being diagnosed with serious cases of cancer at younger and younger ages. If this trend continues, clinical laboratories and pathologists can expect to see more oncology case referrals and perform more cancer diagnostic tests for younger patients.
Expanded genomic dataset includes a wider racial diversity which may lead to improved diagnostics and clinical laboratory tests
Human genomic research has taken another important step forward. The National Institutes of Health’s All of Us research program has reached a milestone of 250,000 collected whole genome sequences. This accomplishment could escalate research and development of new diagnostics and therapeutic biomarkers for clinical laboratory tests and prescription drugs.
The NIH’s All of Us program “has significantly expanded its data to now include nearly a quarter million whole genome sequences for broad research use. About 45% of the data was donated by people who self-identify with a racial or ethnic group that has been historically underrepresented in medical research,” the news release noted.
Detailed information on this and future data releases is available at the NIH’s All of us Data Roadmap.
“For years, the lack of diversity in genomic datasets has limited our understanding of human health,” said Andrea Ramirez, MD, Chief Data Officer, All of Us Research Program, in the news release. Clinical laboratories performing genetic testing may look forward to new biomarkers and diagnostics due to the NIH’s newly expanded gene sequencing data set. (Photo copyright: Vanderbilt University.)
Diverse Genomic Data is NIH’s Goal
NIH launched the All of Us genomic sequencing program in 2018. Its aim is to involve more than one million people from across the country and reflect national diversity in its database.
So far, the program has grown to include 413,450 individuals, with 45% of participants self-identifying “with a racial or ethnic group that has been historically under-represented in medical research,” NIH said.
“By engaging participants from diverse backgrounds and sharing a more complete picture of their lives—through genomic, lifestyle, clinical, and social environmental data—All of Us enables researchers to begin to better pinpoint the drivers of disease,” said Andrea Ramirez, MD, Chief Data Officer of the All of Us research program, in the news release.
More than 5,000 researchers are currently registered to use NIH’s All of Us genomic database. The vast resource contains the following data:
245,350 whole genome sequences, which includes “variation at more than one billion locations, about one-third of the entire human genome.”
1,000 long-read genome sequences to enable “a more complete understanding of the human genome.”
Analysis of drugs effectiveness in different patients.
Data Shared with Participants
Participants in the All of Us program, are also receiving personalized health data based on their genetic sequences, which Dark Daily previously covered.
“Through a partnership with participants, researchers, and diverse communities across the country, we are seeing incredible progress towards powering scientific discoveries that can lead to a healthier future for all of us,” said Josh Denny, MD, Chief Executive Officer, All of Us Research Program, in the news release.
“[Researchers] can get access to the tools and the data they need to conduct a project with our resources in as little as two hours once their institutional data use agreement is signed,” said Fornessa Randal, Executive Director, Center for Asian Health Equity, University of Chicago, in a YouTube video about Researcher Workbench.
For diagnostics professionals, the growth of available whole human genome sequences as well as access to participants in the All of Us program is noteworthy.
Also impressive is the better representation of diversity. Such information could result in medical laboratories having an expanded role in precision medicine.
This is another approach to the liquid biopsy that clinical laboratories and pathologists may use to detect cancer less invasively
Screening for cancer usually involves invasive, often painful, costly biopsies to provide samples for diagnostic clinical laboratory testing. But now, scientists at the University of Technology (UTS) in Sydney, Australia, have developed a novel approach to identifying tumorous cells in the bloodstream that uses imaging to cause cells with elevated lactase to fluoresce, according to a UTS news release.
The UTS researchers created a Static Droplet Microfluidic (SDM) device that detects circulating tumor cells (CTC) that have separated from the cancer source and entered the bloodstream. The isolation of CTCs is an intrinsic principle behind liquid biopsies, and microfluidic gadgets can improve the efficiency in which problematic cells are captured.
The University of Technology’s new SDM device could lead the way for very early detection of cancers and help medical professionals monitor and treat cancers.
“Managing cancer through the assessment of tumor cells in blood samples is far less invasive than taking tissue biopsies. It allows doctors to do repeat tests and monitor a patient’s response to treatment,” explained Majid E. Warkiani, PhD, Professor, School of Biomedical Engineering, UTS, and one of the authors of the study, in a news release. Clinical laboratories and pathologists may soon have a new liquid biopsy approach to detecting cancers. (Photo copyright: University of New South Wales.)
Precision Medicine a Goal of UTS Research
The University of Technology’s new SDM device differentiates tumor cells from normal cells using a unique metabolic signature of cancer that involves the waste product lactate.
“A single tumor cell can exist among billions of blood cells in just one milliliter of blood, making it very difficult to find,” explained Majid E. Warkiani, PhD, a professor in the School of Biomedical Engineering at UTS and one of the authors of the study, in the news release.
“The new [SDM] detection technology has 38,400 chambers capable of isolating and classifying the number of metabolically active tumor cells,” he added.
“In the 1920s, Otto Warburg discovered that cancer cells consume a lot of glucose and so produce more lactate. Our device monitors single cells for increased lactate using pH sensitive fluorescent dyes that detect acidification around cells,” Warkiani noted.
After the SDM device has detected the presence of questionable cells, those cells undergo further genetic testing and molecular analysis to determine the source of the cancer. Because circulating tumor cells are a precursor of metastasis, the device’s ability to identify CTCs in very small quantities can aid in the diagnosis and classification of the cancer and the establishment of personalized treatment plans, a key goal of precision medicine.
The new technology was also designed to be operated easily by medical personnel without the need for high-end equipment and tedious, lengthy training sessions. This feature should allow for easier integration into medical research, clinical laboratory diagnostics, and enable physicians to monitor cancer patients in a functional and inexpensive manner, according to the published study.
“Managing cancer through the assessment of tumor cells in blood samples is far less invasive than taking tissue biopsies. It allows doctors to do repeat tests and monitor a patient’s response to treatment,” stated Warkiani in the press release.
The team have filed for a provisional patent for the device and plan on releasing it commercially in the future.
Other Breakthroughs in MCED Testing
Scientists around the world have been working to develop a simple blood test for diagnosing cancer and creating optimal treatment protocols for a long time. There have been some notable breakthroughs in the advancement of multi-cancer early detection (MCED) tests, which Dark Daily has covered in prior ebriefings.
According to the Centers for Disease Control and Prevention (CDC), cancer ranks second in the leading causes of death in the US, just behind heart disease. There were 1,603,844 new cancer cases reported in 2020, and 602,347 people died of various cancers that year in the US.
According to the National Cancer Institute, the most common cancers diagnosed in the US annually include:
Cancer is a force in Australia as well. It’s estimated that 151,000 Australians were diagnosed with cancer in 2021, and that nearly one in two Australians will receive a diagnosis of the illness by the age of 85, according to Cancer Council South Australia.
The population of Australia in 2021 was 25.69 million, compared to the US in the same year at 331.9 million.
The development of the University of Technology’s static droplet microfluidic device is another approach in the use of liquid biopsies as a means to detect cancer less invasively.
More research and clinical studies are needed before the device can be ready for clinical use by anatomic pathology groups and medical laboratories, but its creation may lead to faster diagnosis of cancers, especially in the early stages, which could lead to improved patient outcomes.
In a handful of cases, health insurers reversed denials after physicians or patients posted complaints on social media
Prior authorization requirements by health insurers have long been a thorn in the side of medical laboratories, as well as physicians. But now, doctors and patients are employing a new tactic against the practice—turning to social media to shame payers into reversing denials, according to KFF Health News (formerly Kaiser Health News).
Genetic testing lab companies are quite familiar with prior authorization problems. They see a significant number of their genetic test requests fail to obtain a prior authorization. Thus, if the lab performs the test, the payer will likely not reimburse, leaving the lab to bill the patient for 100% of the test price, commonly $1,000 to $5,000. Then, an irate patient typically calls the doctor to complain about the huge out-of-pocket cost.
“There are times when you simply must call out wrongdoings,” she wrote in an Instagram post, according to the outlet. “This is one of those times.”
In response, an “escalation specialist” from BCBSIL contacted her but was unable to help. Then, after KFF Health News reached out, Nix discovered on her own that $36,000 in outstanding claims were marked “paid.”
“No one from the company had contacted her to explain why or what had changed,” KFF reported. “[Nix] also said she was informed by her hospital that the insurer will no longer require her to obtain prior authorization before her infusions, which she restarted in July.”
“I think we’re on the precipice of really improving the environment for prior authorization,” said Todd Askew, Senior Vice President, Advocacy, for the American Medical Association, in an AMA Advocacy Update. If this was to happen, it would be welcome news for clinical laboratories and anatomic pathology groups. (Photo copyright: Nashville Medical News.)
Physicians Also Take to Social Media to Complain about Denials
Some physicians have taken similar actions, KFF Health News reported. One was gastroenterologist Shehzad A. Saeed, MD, of Dayton Children’s Hospital in Ohio. Saeed posted a photo of a patient’s skin rash on Twitter in March after Anthem denied treatment for symptoms of Crohn’s disease. “Unacceptable and shameful!” he tweeted.
Two weeks later, he reported that the treatment was approved soon after the tweet. “When did Twitter become the preferred pathway for drug approval?” he wrote.
Eunice Stallman, MD, a psychiatrist from Boise, Idaho, complained on X (formerly Twitter) about Blue Cross of Idaho’s prior authorization denial of a brain cancer treatment for her nine-month-old daughter. “This is my daughter that you tried to deny care for,” she posted. “When a team of expert [doctors] recommend a treatment, your PharmD reviewers don’t get to deny her life-saving care for your profits.”
However, in this case, she posted her account after Blue Cross Idaho reversed the denial. She said she did this in part to prevent the payer from denying coverage for the drug in the future. “The power of the social media has been huge,” she told KFF Health News. The story noted that she joined X for the first time so she could share her story.
Affordable Care Act Loophole?
“We’re not going to get rid of prior authorization. Nobody is saying we should get rid of it entirely, but it needs to be right sized, it needs to be simplified, it needs to be less friction between the patient and accessing their benefits. And I think we’re on really good track to make some significant improvements in government programs, as well as in the private sector,” said Todd Askew, Senior Vice President, Advocacy, for the American Medical Association, in an AMA Advocacy Update.
However, KFF HealthNews reported that Kaye Pestaina, JD, a Kaiser Family Foundation VP and Co-Director of the group’s Program on Patient and Consumer Protections, noted that some “patient advocates and health policy experts” have questioned whether payers’ use of prior authorization denials may be a way to get around the Affordable Care Act’s prohibition against denial of coverage for preexisting conditions.
“They take in premiums and don’t pay claims,” family physician and healthcare consultant Linda Peeno, MD, told KFF Health News. “That’s how they make money. They just delay and delay and delay until you die. And you’re absolutely helpless as a patient.” Peeno was a medical reviewer for Humana in the 1980s and then became a whistleblower.
The issue became top-of-mind for genetic testing labs in 2017, when Anthem (now Elevance) and UnitedHealthcare established programs in which physicians needed prior authorization before the insurers would agree to pay for genetic tests.
Dark Daily’s sister publication The Dark Report covered this in “Two Largest Payers Start Lab Test Pre-Authorization.” We noted then that it was reasonable to assume that other health insurers would follow suit and institute their own programs to manage how physicians utilize genetic tests.
At least one large payer has made a move to reduce prior authorization in some cases. Effective Sept. 1, UnitedHealthcare began a phased approach to remove prior authorization requirements for hundreds of procedures, including more than 200 genetic tests under some commercial insurance plans.
However, a source close to the payer industry noted to Dark Daily that UnitedHealthcare has balked at paying hundreds of millions’ worth of genetic claims going back 24 months. The source indicated that genetic test labs are engaging attorneys to push their claims forward with the payer.
Is Complaining on Social Media an Effective Tactic?
A story in Harvard Business Review cited research suggesting that companies should avoid responding publicly to customer complaints on social media. Though public engagement may appear to be a good idea, “when companies responded publicly to negative tweets, researchers found that those companies experienced a drop in stock price and a reduction in brand image,” the authors wrote.
However, the 2023 “National Customer Rage Survey,” conducted by Customer Care Measurement and Consulting and Arizona State University, found that nearly two-thirds of people who complained on social media received a response. And “many patients and doctors believe venting online is an effective strategy, though it remains unclear how often this tactic works in reversing prior authorization denials,” KFF Health News reported.
Federal Government and States Step In
KFF Health News reported that the federal government is proposing reforms that would require some health plans “to provide more transparency about denials and to speed up their response times.” The changes, which would take effect in 2026, would apply to Medicaid, Medicare Advantage, and federal Health Insurance Marketplace plans, “but not employer-sponsored health plans.”
KFF also noted that some insurers are voluntarily revising prior authorization rules. And the American Medical Association reported in March that 30 states, including Arkansas, California, New Jersey, North Carolina, and Washington, are considering their own legislation to reform the practice. Some are modeled on legislation drafted by the AMA.
Though the states and the federal government are proposing regulations to address prior authorization complaints, reform will likely take time. Given Harvard Business Review’s suggestion to resist replying to negative customer complaints in social media, clinical labs—indeed, all healthcare providers—should carefully consider the full consequences of going to social media to describe issues they are having with health insurers.
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.
Findings could lead to deeper understanding of why we age, and to medical laboratory tests and treatments to slow or even reverse aging
Can humans control aging by keeping their genes long and balanced? Researchers at Northwestern University in Evanston, Illinois, believe it may be possible. They have unveiled a “previously unknown mechanism” behind aging that could lead to medical interventions to slow or even reverse aging, according to a Northwestern news release.
Should additional studies validate these early findings, this line of testing may become a new service clinical laboratories could offer to referring physicians and patients. It would expand the test menu with assays that deliver value in diagnosing the aging state of a patient, and which identify the parts of the transcriptome that are undergoing the most alterations that reduce lifespan.
It may also provide insights into how treatments and therapies could be implemented by physicians to address aging.
“I find it very elegant that a single, relatively concise principle seems to account for nearly all of the changes in activity of genes that happen in animals as they change,” Thomas Stoeger, PhD, postdoctoral scholar in the Amaral Lab who led the study, told GEN. Clinical laboratories involved in omics research may soon have new anti-aging diagnostic tests to perform. (Photo copyright: Amaral Lab.)
Possible ‘New Instrument’ for Biological Testing
Researchers found clues to aging in the length of genes. A gene transcript length reveals “molecular-level changes” during aging: longer genes relate to longer lifespans and shorter genes suggest shorter lives, GEN summarized.
The phenomenon the researchers uncovered—which they dubbed transcriptome imbalance—was “near universal” in the tissues they analyzed (blood, muscle, bone, and organs) from both humans and animals, Northwestern said.
According to the National Human Genome Research Institute fact sheet, a transcriptome is “a collection of all the gene readouts (aka, transcript) present in a cell” shedding light on gene activity or expression.
The Northwestern study suggests “systems-level” changes are responsible for aging—a different view than traditional biology’s approach to analyzing the effects of single genes.
“We have been primarily focusing on a small number of genes, thinking that a few genes would explain disease,” said Luis Amaral, PhD, Senior Author of the Study and Professor of Chemical and Biological Engineering at Northwestern, in the news release.
“So, maybe we were not focused on the right thing before. Now that we have this new understanding, it’s like having a new instrument. It’s like Galileo with a telescope, looking at space. Looking at gene activity through this new lens will enable us to see biological phenomena differently,” Amaral added.
In their Nature Aging paper, Amaral and his colleagues wrote, “We hypothesize that aging is associated with a phenomenon that affects the transcriptome in a subtle but global manner that goes unnoticed when focusing on the changes in expression of individual genes.
“We show that transcript length alone explains most transcriptional changes observed with aging in mice and humans,” they continued.
In tissues studied, older animals’ long transcripts were not as “abundant” as short transcripts, creating “imbalance.”
“Imbalance” likely prohibited the researchers’ discovery of a “specific set of genes” changing.
As animals aged, shorter genes “appeared to become more active” than longer genes.
In humans, the top 5% of genes with the shortest transcripts “included many linked to shorter life spans such as those involved in maintaining the length of telomeres.”
Conversely, the researchers’ review of the leading 5% of genes in humans with the longest transcripts found an association with long lives.
Antiaging drugs—rapamycin (aka, sirolimus) and resveratrol—were linked to an increase in long-gene transcripts.
“The changes in the activity of genes are very, very small, and these small changes involve thousands of genes. We found this change was consistent across different tissues and in different animals. We found it almost everywhere,” Thomas Stoeger, PhD, postdoctoral scholar in the Amaral Lab who led the study, told GEN.
In their paper, the Northwestern scientists noted implications for creation of healthcare interventions.
“We believe that understanding the direction of causality between other age-dependent cellular and transcriptomic changes and length-associated transcriptome imbalance could open novel research directions for antiaging interventions,” they wrote.
While more research is needed to validate its findings, the Northwestern study is compelling as it addresses a new area of transcriptome knowledge. This is another example of researchers cracking open human and animal genomes and gaining new insights into the processes supporting life.
For clinical laboratories and pathologists, diagnostic testing to reverse aging and guide the effectiveness of therapies may one day be possible—kind of like science’s take on the mythical Fountain of Youth.
