The NHS plans to map the DNA of all newborns in England over the next 10 years to evaluate their risk for hundreds of diseases
Clinical laboratories in the UK will soon see a new increase for specialized testing. Under a new 10-year plan by England’s National Health Service (NHS), every newborn baby in the country will have their complete DNA mapped using tiny blood samples taken from their umbilical cords shortly after birth. The blood samples will assess an infant’s risk for hundreds of diseases with the intent of predicting and preventing those illnesses while mitigating demand for services and saving money. The plan itself is set to be revealed in the near future.
In October, the NHS announced it would be analyzing the genetic code of up to 100,000 newborns via a small drop of blood collected from the heel. Currently, testing usually occurs when a baby is five days old and looks for nine rare, but serious gene disorders that develop in early childhood and have effective treatments available.
The new umbilical cord testing utilizes genomics, artificial intelligence (AI), predictive analytics, and other technologies to provide faster diagnoses and treatments for approximately 7,000 single-gene disorders.
“With the power of this new technology, patients will be able to receive personalized healthcare to prevent ill-health before symptoms begin, reducing the pressure on NHS services and helping people live longer, healthier lives,” stated Wes Streeting, NHS Secretary of State for Health and Social Care in a statement.
Wes Streeting, NHS Secretary of State for Health and Social Care said, “”Genomics presents us with the opportunity to leapfrog disease, so we’re in front of it rather than reacting to it.” (Photo credit: GOV.UK)
This new, whole genome sequencing procedure for infants is part of a 10-year plan by the NHS to establish major shifts in how healthcare is delivered in the UK to improve the quality of care and increase transparency. The intent is to move delivery from hospital to community, which includes the implementation of “neighborhood health teams” to aggregate services. The plan also includes transitioning from analog to digital methods and from treating illnesses to preventing them.
“Our 10-year plan will build on the founding promise of the NHS, so that it provides health care free at the point of risk, not just need,” said Streeting.
He also stated technological advances will help alleviate pressures on the NHS and contribute to its future success, thus improving the overall health of the population.
“As we deliver the transformational shifts in our 10-year plan, from hospital to community, analog to digital, and sickness to prevention, it will have radical implications for services,” he said. “Much of what’s done in a hospital today will be done on the high street, over the phone, or through the app in a decade’s time.”
While many scientists, doctors and patient advocacy groups applaud this testing on infants, there are some concerns it may spark an ethical debate. Parents will have the ability to give consent, but the testing may result in information they may not want to know, which could have a negative psychological effect on children and parents who are aware they have a higher risk for certain diseases.
There are also concerns regarding the security of crucial patient data and how such information can be prone to security breaches. The DNA and health records of infants are stored on secure systems and require strict authorization to access, but this type of data is very valuable to cyber hackers. The NHS has stressed it is prioritizing digital security measures, including vigorous cybersecurity, data governance and the implementation of ethical guidelines for AI development.
Robin Lovell-Badge, PhD, principal group leader and head of the Laboratory of Stem Cell Biology and Developmental Genetics at the Francis Crick Institute also noted some reservations he has regarding how the collected data is provided to patients.
“You need people to have conversations with individuals who might be affected by genetic disease,” he said. “One of the things that worries me was an insufficient number of genetic counselors. It’s not just having the information, it’s conveying the information in an appropriate, helpful way.”
As technological advances become increasingly prevalent in medicine, clinical labs will be at the forefront of new initiatives such as the 10-year plan by the NHS.
The Pan American Health Organization has sounded the alarm: non-communicable diseases have surged with relentless force over the past 25 years, painting a grim portrait of a mounting public health crisis.
Non-communicable disease (NCD) deaths have risen by an alarming 43% in the Americas during the last 25 years, according to a recent report released in July by the Pan American Health Organization (PAHO).
A Silent Epidemic: Non-Communicable Diseases Surge Across the Americas
In 2021, NCDs were responsible for 65% of all deaths in the region or 9.2 million people. Almost 40% of these deaths occurred before the age of 70. According to PAHO, the following NCDs led to an increase in deaths:
Cardiovascular disease (2.16 million deaths)
Cancer (1.37 million deaths)
Diabetes (420,000 deaths)
Chronic respiratory conditions (416,000 deaths)
“The surge in NCD deaths is an urgent wake-up call,” stated Jarbas Barbosa, PhD, PAHO Director in a news release. “Too many people are dying prematurely from diseases that are largely preventable and treatable. With early detection, timely diagnosis, access to care, and strong policies, we can save lives. This report gives countries the tools they need to act.”
Jarbas Barbosa, PhD, was elected Director of the PAHO by Member States during the 30th Pan American Sanitary Conference on September 28, 2022, Barbosa began his five-year term on February 1, 2023. (Photo copyright: PAHO)
Risky Behaviors and Environmental Hazards Are Fueling the Crisis
Although population growth and aging are contributing factors to the findings, the PAHO report indicates modifiable risk factors are also driving the rise in NCD deaths. Behaviors such as tobacco use, unhealthy diet, physical inactivity, and harmful alcohol consumption are endangering individuals’ health. The report added that in 2022, there was a 28% increase in obesity since 2010, which affects 33.8% of the adult population in the Americas. Further, the prevalence of diabetes was reported in 13.1% of the population and more than one third of adults have hypertension, but only 36.4% of these cases are controlled.
The report confirmed there are critical environmental challenges contributing to the rise in NCDs, noting air pollution is increasing incidents of cardiovascular and respiratory conditions. It also stated that suicide was the fourth leading cause of death in the 15-29 age group, claiming 100,760 lives. And overall suicide rates have increased by 17.4% since 2000 in the region.
The report also noted there have been some improvements in health trends since 2000, including:
Overall NCD mortality rates decreased by 16.2%
Cardiovascular and chronic respiratory disease mortality rates dropped by nearly 30%
Cancer mortality rates fell by 24.6%
Tobacco use declined by 22.1%
Diabetes treatment coverage rose from 46.6% to 57.7%
Accelerated efforts to battle NCD mortality rates should be considered to improve public health in the Americas. Only five countries—Antigua and Barbuda, Argentina, Barbados, Chile, and Grenada were able to realize the global goal of reducing NCD deaths by 25% before 2025.
Barbosa acknowledges that significant disparities still exist, and critical steps need to be taken to deal with NCDs.
“Only 36% of adults with hypertension are controlled; approximately 38% of adults with diabetes are not adequately treated. Cervical cancer can potentially be eliminated through HPV vaccination, HPV testing, and precancer treatment, all delivered through primary care services. However, coverage rates for HPV vaccination are well below the 90% target, while HPV testing has only been introduced in a few countries,” he said.
Barbosa added that “more than 160 million people live with mental disorders in the Americas, most of whom lack access to care and also experience stigma and discrimination.”
Clinical tests can help identify many of the non-communicable diseases that are responsible for millions of premature deaths. Labs hoping to raise awareness of NCDs among their customers should review the PAHO report to ensure patients receive the best diagnoses and treatments.
UK researchers have identified a link between womb lining issues and recurrent miscarriage, leading to a new test that may help detect risks before pregnancy.
Researchers in the UK have identified a malfunction in the womb lining as a significant contributor to recurrent miscarriages—even when embryos are healthy. The new study entitled “Stalling of the Endometrial Decidual Reaction Determines the Recurrence Risk of Miscarriage,” was published June 25 in the journal Science Advances. The scientists’ findings have led to the development of a new diagnostic tool aimed at identifying women at risk before pregnancy begins.
The study, led by scientists at the University of Warwick, sheds light on a poorly understood biological process called the “decidual reaction,” which prepares the endometrium—the inner lining of the uterus—for embryo implantation.
“This is about identifying preventable miscarriages,” said lead author Joanne Muter, PhD of Warwick Medical School in a press release. “Many women are told they’ve just had ‘bad luck’, but our findings show that the womb itself may be setting the stage for pregnancy loss, even before conception takes place.”
The team analyzed 1,555 biopsies from 1,308 women who sought care at the Implantation Research Clinic at University Hospitals Coventry and Warwickshire (UHCW) NHS Trust. These patients had experienced one or more miscarriages or ongoing fertility issues.
In many of these women, the researchers observed that the decidual reaction did not activate or progress as it should. This disruption results in an unstable uterine environment that still allows embryos to implant but increases the likelihood of early pregnancy loss.
Senior author Jan Brosens, PhD, Professor of Obstetrics & Gynaecology at Warwick and UHCW NHS Trust and Scientific Director of the Tommy’s National Miscarriage Research Centre noted in the press release, “It is well-established that chromosomal errors in embryos account for the rise in miscarriage rates in women older than 35 years. This study shows that each miscarriage increases the risk of an embryo implantation in an abnormal womb, regardless of age.”
“… we now have the tools to screen for the risk of preventable miscarriage and to evaluate treatments that improve the womb lining before pregnancy,” said Senior Author Professor Jan Brosens. (Photo credit: University of Warwick)
“The endometrium’s role is to receive the embryo and support the development of the placenta throughout pregnancy,” the researchers explained in the release. “The decidual reaction transforms the womb lining into a supportive tissue for the embryo to implant.
When it doesn’t fully activate or becomes dysregulated, it creates an unstable environment that, while still allowing embryos to implant, increases the risk of bleeding and early pregnancy loss.”
New Test Measures Womb Readiness and Immune Cell Activity
To detect these abnormalities, the research team developed the Digital Endometrium Function Test—abbreviated as (d)EFT—which is currently undergoing a large-scale pilot trial at UHCW. According to the university, more than 1,000 patients have already received the test as part of their clinical care.
The (d)EFT test requires a small biopsy of the womb lining, according to the Warwick Medical School website. In addition, patients provide a blood sample—used to measure progesterone level—and undergo a transvaginal ultrasound scan. They must also use an ovulation test or wearable device to determine their peak fertility day.
The test evaluates three key markers:
Endometrial readiness: Digital PCR technology measures biomarkers that indicate whether the endometrium can support embryo implantation.
Timing of implantation window: PCR results combined with mathematical modeling determine when the womb lining is most receptive.
uNK cell levels: Digital image analysis measures uterine natural killer cells, which, in abnormal numbers, are linked to IVF failure or increased miscarriage risk.
“High uNK cells are linked to implantation and IVF failure, whereas low levels of uNK cells may increase the risk of miscarriage,” according to the Warwick Medical School website.
The research, funded by UK pregnancy charity Tommy’s, has the potential to shift how clinicians assess and treat miscarriage risk. Current diagnostics often focus on embryo quality, hormone levels, or genetic issues—overlooking the role of the uterine environment.
By offering a more targeted, womb-centered approach, the researchers hope their work will lead to effective new treatments for the estimated 15% of pregnancies that end in miscarriage.
Lead author of a new study, Ciro Chiappini, PhD, says this new technology could lead to advancements in personalized medicine
Scientists at King’s College London have developed a nanoneedle patch that offers a painless alternative to biopsies that also delivers quicker and more accurate results.
As reported by Phys Org, new research published in Nature Nanotechnology shows that these new patches could be the future of diagnostics. As common as traditional biopsies are, they can be painful and often patients are deterred from follow-ups as well as seeking out treatment and early diagnosis.
“We have been working on nanoneedles for twelve years, but this is our most exciting development yet. It opens a world of possibilities for people with brain cancer, Alzheimer’s, and for advancing personalized medicine. It will allow scientists—and eventually clinicians—to study disease in real time like never before.” said Ciro Chiappini, PhD, senior lecturer at King’s College London and lead author of the study.
The lead author of the study, Ciro Chiappini, PhD, senior lecturer at King’s College London said the new development doesn’t disrupt the cell membrane in a way that cannot be repaired. (Photo copyright: King’s College London)
How it Works
The patches are made up of tens of millions of microscopic needles that are 1,000 times thinner than a human hair and do not remove tissue. This causes no damage and pain while the nanoneedles extract molecular fingerprints from the tissue. The sample is then analyzed using both mass spectrometry and artificial intelligence.
“This approach provides multidimensional molecular information from different types of cells within the same tissue. Traditional biopsies simply cannot do that. And because the process does not destroy the tissue, we can sample the same tissue multiple times, which was previously impossible.” said Chiappini of the process. The study focused on lipids and applied the patch to brain cancer tissue of human origin and mice.
Potential Limitations
Additional reporting by Science News looks into some of the possible drawbacks of the technology.
The patch can’t sample tissue that exists deeper in the body, yet Chiappini says that physicians can use the patch during surgery to get fast results on tissue they are operating on. “It’s very much a surface technology, which is potentially [both] a limitation and a feature,” he says.
Phys Org explained the potential during brain surgery. A surgeon would apply a patch to a “suspicious area” and receive results within 20 minutes, providing the surgical team with impactful information in real-time.
Less Pain, More Gain?
It is no secret that patients will often try to avoid or put off uncomfortable medical procedures like biopsies. This new development is part of an ongoing larger trend—making medical procedures more appealing to encourage higher percentages of patients to seek care and receive treatment. As recently reported by Dark Daily in the article entitled, “University of Texas Study Shows Self-Collection Boosts Cancer Screenings among Women,” a new at-home collection kit to replace a traditional Pap smear may help boost early detection of cervical cancer in women.
This new technology and trend toward less painful procedures suggests that patients will be more inclined to participate in pathology exams if they were less invasive and uncomfortable or painful. Pathology professionals should keep on eye on future developments in this space.
Biopsies are not yet ready to become obsolete, as the patch is still in its early stages and more research is needed.
Promising results showcase benefits of MCED lab tests and provide hope for continued advancements
In impressive new research, Johns Hopkins School of Medicine has developed a clinical laboratory blood test that detects the presence of cancer years before symptoms present, aiding physicians with early diagnosis and treatment.
The identification of cancer cells comes via bloodstream analysis showing genetic materials shed by tumors and showcases the promise of multicancer early detection screening (MCED) to spot all types of cancer in early stages.
“Three years earlier provides time for intervention. The tumors are likely to be much less advanced and more likely to be curable,” Yuxuan Wang, MD, PhD, lead researcher and assistant professor of oncology at Johns Hopkins, told SciTechDaily.
Kimmel Cancer Center, Ludwig Center, the Bloomberg School of Public Health also participated in the study with the support of the National Institutes of Health (NIH).
Senior study author Nickolas Papadopoulos, PhD, professor of oncology at Johns Hopkins School of Medicine and senior author of the study, notes that an appropriate course of clinical care will be required following any positive result from the new cancer diagnostic blood test. (Photo copyright: Johns Hopkins.)
Johns Hopkins Study Details
To complete their research, the scientists studied plasma samples that came from the NIH study on Atherosclerosis Risk in Communities (ARIC), which was created to examine cardiovascular disease risk factors in heart failure, strokes, and heart attacks, SciTechDaily reported.
The researchers analyzed the samples using “highly accurate and sensitive sequencing techniques to analyze blood samples from 26 participants in the ARIC study who were diagnosed with cancer within six months after sample collection, and 26 from similar participants who were not diagnosed with cancer, ” SciTechDaily noted.
At the time of sample gathering, eight of the study participants had received a positive score on the MCED test. Six of them provided additional blood samples dating back 3.1 to 3.5 years. Four of those samples showed mutations, SciTechDaily reported.
Value of MCED Screening
While the sample size in the Johns Hopkins study is small, results of the tests give patients and their physicians a head start on identifying appropriate treatments and demonstrate the strides already made with MCED screening.
MCED tests are relatively new, and while they continue to lack FDA-approval, their ability to discern various types of cancer and provide advanced detection with helpful results make them a promising approach to early cancer screening, the American Cancer Society (ACS) notes.
“For cancers of all stages, therapies are more effective with a lower disease burden,” the scientists wrote in Cancer Discovery.
MCED tests use blood, saliva, urine, or other body fluids to seek out cancer signs through RNA, DNA, or proteins from abnormal cells that may be cancerous. Current screening can assist with cervical, breast, colorectal, prostate, or lung cancer, the ACS added.
Spotting Cancer Earlier
The Johns Hopkins scientist believe detection beyond three years early is likely. “In four of these six participants, the same mutations detected by the multicancer early detection test could be identified, but at 8.6- to 79-fold lower mutant allele fractions. These results demonstrate that it is possible to detect [circulating tumor DNA] more than three years prior to clinical diagnosis and provide benchmark sensitivities required for this purpose,” the Cancer Discovery study notes.
“Detecting cancers years before their clinical diagnosis could help provide management with a more favorable outcome,” Nickolas Papadopoulos, PhD, professor of oncology at Johns Hopkins School of Medicine and senior author of the study, told SciTechDaily.
“Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers,” he added.
Clinical laboratories can play a role in educating and advising at-home self-collection test users
Women are twice as likely to follow through with cervical cancer screening when they receive a self-collection kit for HPV infection rather than a reminder phone call from a clinical laboratory. That’s according to research conducted at University of Texas MD Anderson Cancer Center.
Human papillomavirus (HPV) causes nearly all types of cervical cancer. In their study, the researchers found that 41% of women pursued cancer screening when given a self-collection kit as opposed to 17% who only received a telephone reminder.
According to a University of Texas press release, MD Anderson conducted its study between February 2020 and August 2023 and included 2,500 women from the Houston area between the ages of 30-65. Most of the women (94%) were racial or ethnic minorities, and 56% of the participants received help from a publicly funded financial assistance program. More than 80% of the women in the self-collection groups returned their self-collection kits.
“As self-collection tests become available in the US, it’s vital that we gather data to guide how they are rolled out. We want to make sure that they become available in clinics and health centers that care for people who often have the hardest time accessing healthcare,” said Jane Montealegre, PhD, associate professor in the Department of Behavioral Science, Division of Cancer Prevention and Population Sciences at the University of Texas.
“By removing barriers, we are hopeful that we can improve the uptake of evidence-based screening tests and make significant progress against this preventable disease,” said Jane Montealegre, PhD, associate professor in the Department of Behavioral Science, Division of Cancer Prevention and Population Sciences at the University of Texas, in the press release. (Photo copyright: University of Texas.)
Comfortable Alternative to Pap Smears
At-home cervical cancer screening tests are becoming more popular as opposed to the Pap smear, a gynecological procedure that can be painful or uncomfortable for some patients.
In May, Teal Health announced it had received FDA approval to distribute its Teal Wand, the first at-home cervical cancer screening self-collection device commercially available, according to G2 Intelligence, a sibling publication to Dark Daily.
The turnaround time for the test is about one week, Teal spokesperson Lilly Bromberg told G2. Results are reported in a secure patient portal. Teal clinicians will schedule a follow-up with any patient who has abnormal results to explore future steps.
Option for Demographics More Likely to Develop Cervical Cancer
These self-collection tests could also reach patients who are unable to access care. “Too many women—especially those who are uninsured, live in rural areas, or come from marginalized and underserved communities—aren’t getting screened for cervical cancer,” said Montealegre.
Cervical cancer affects nearly 13,000 women annually, and racial disparities exist amongst those affected. According to the American Journal of Preventative Medicine, black women in America are 30% more likely to develop cervical cancer, and 60% of them are more likely to die of the disease, than non-Hispanic white women. Hispanic women have a 51% higher chance of developing cervical cancer than non-Hispanic white women.
At-home screening may be a crucial next step in closing the gaps in care and further driving down the rates of cervical cancer. The findings of this study show how the convenience and ease of these tests may be able to bring at-risk women closer to diagnosis and treatment of cervical cancer.
As newly approved self-collection tests become more popular, there may be a growing market for clinical laboratory professionals to advise at-home test users on their functionality and the results they return. Self-collection testing may increase in years to come because of these advances.
