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.
Genetic test that analyzes DNA to identify men at greatest risk for developing the disease could become common clinical laboratory screen for cancer
Researchers in the UK believe a common spit test can be more accurate at determining which men are more likely to develop prostate cancer than the clinical laboratory prostate-specific antigen (PSA) blood test currently used by the National Health Service (NHS) for that diagnosis.
During a recent study, scientists at the Institute of Cancer Research, London (ICR), found that germline DNA extracted from saliva, which was then used to derive polygenic risk scores for cancer, resulted in a higher percentage of participants “found to have clinically significant disease” than the percentage that would have been identified with the use of PSA or MRI.
The salvia test works by analyzing men’s DNA to find out if they are genetically pre-disposed to developing the disease. Men who find out they are likely to develop prostate cancer can then pursue further testing and scans.
“The test assesses 130 genetic variants to provide a risk score for prostate cancer, which is the second most common cause of cancer deaths in men in the UK,” The Guardian reported.
The study found that 187 of the men in the study had prostate cancer. According to the American Cancer Society, one in eight men will be diagnosed with prostate cancer in their lifetime.
“We can identify men at risk of aggressive cancers who need further tests and spare the men who are at lower risk from unnecessary treatments,” said study leader Rosalind Eeles, PhD, of the ICR London, in The Guardian.
“With this test, it could be possible to turn the tide on prostate cancer,” Rosalind Eeles, PhD, of the Institute of Cancer Research, London, told the BBC. (Photo copyright: Prostate Cancer UK.)
Landmark Discovery
Michael Inouye, PhD, professor of systems genomics and population health at the University of Cambridge, told the BBC that researchers will look back on this study “as a landmark.” He also acknowledged that it would be a long road before widespread implementation of the test.
While some sources call the ICR’s test promising, they also acknowledge it may only have a modest effect and that there may be possible racial disparities in the findings. The study was primarily based on people with European ancestry. According to Prostate Cancer UK, black men in the UK have double the risk of developing the disease. A similar trend can be observed in the US, Statistica reported.
Dusko Ilic, PhD, professor in stem cell sciences at King’s College London, told the BBC that there was “no direct evidence” of these findings having an effect on survival or quality of life. He stressed the need for more studies to better assess the value of the test.
The salvia test is expected to be included in Prostate Cancer UK’s TRANSFORM trial, a $58 million research program partly funded by the NHS to determine the best way to screen for cancer in the UK.
Effect on Clinical Pathologists
Prostate cancer is expected to surge in the US over the next 15 years, according to UC Davis Health. Thus, pathologists should expect more men to seek ways to assess their risk. Pathologists would be wise to educate themselves fully on new and emerging tests and tools to best meet the needs of their patients.
Given the publicity generated by former President Biden’s announcement that he has an advanced case of prostate cancer, clinical laboratories should also expect more patients to request diagnostic tests that either screen for or confirm the presence of the disease.
With public trust in healthcare organizations dropping, clinical laboratories worldwide must work doubly hard to provide competent, secure services to their patients
Is the UK’s National Health Service hurting people? About 10% of NHS patients said yes in a recent survey conducted by the London School of Hygiene and Tropical Medicine (LSHTM) and the University of Oxford. And those findings are a public stain on the physicians and clinical laboratories in an already strained healthcare system.
Of the 10,000 people interviewed, nearly 1,000 “reported they had experienced harm caused by the NHS in the previous three years. Of those, 6.2% cited their treatment or care and 3.5% blamed the harm on a lack of access to NHS services,” according to an LSHTM news release.
While the definition of “hurt” within the confines of the survey wasn’t specified, what is clear is that public trust in the UK’s healthcare system is decreasing. Fallout from the survey may affect the public’s trust in clinical labs that are facing unfavorable feedback from slow test result delivery times or rare instances of incorrect results.
“I’ve been studying patient safety and working in and with the NHS, including as a GP, for many years. It’s a complex challenge to pinpoint the cause of the problem and solve it,” said study author Helen Hogan, PhD, MBBS, a general practitioner and associate professor in the department of Health Services Research and Policy at LSHTM, in the news release.
“These findings indicate that healthcare harm affects a considerable number of the general public. It shows that there is still some way to go to improve safety across the NHS,” said study author Helen Hogan, PhD, MBBS, general practitioner and associate professor in the department of Health Services Research and Policy at LSHTM, in a news release. (Photo copyright: London School of Hygiene and Tropical Medicine.)
Of the 9.7% that reported NHS harm, 6.2% claimed it was from the actual treatment or care given and 3.5% from the access to care. Severity ranged from 37.6% reporting moderate impact to 44.8% reporting severe impact, and the majority claimed the impact occurred at hospitals, the authors wrote in BMJ Quality and Safety.
Women led the respondents in reports of harm, and more severe harm or higher rates of harm were reported from those in disadvantaged groups or lower social grades and those with disabilities or long-term illness, according to the researchers.
Though 60% got professional support for their troubles, including 11.6% contacting the NHS’ Patient Advice and Liaison Service (PALS), only 17% made a formal complaint. A small percentage, 2.5%, sought financial compensation, the survey showed.
Poor Patient Service Experience
Further, the patients reported poor results when they sought relief from the harm. Some (44.4%) desired treatment or care to help with the harm, while others (34.8%) wanted an explanation for the harm. Two-thirds said their incidents were not dealt with well and only half reported a positive PALS experience, the survey noted.
“Those harmed by healthcare are looking for a compassionate and caring response from services. What they really want is to be listened to, to have their harm acknowledged, and get an explanation,” noted Michele Peters, PhD, fellow survey author and associate professor at Oxford Population Health, University of Oxford, in the LSHTM news release.
Loss in Confidence
To make matters worse for the UK’s publicly run healthcare system, an unrelated patient satisfaction survey published contemporaneously found that NHS satisfaction hit record lows. According to The Guardian, the annual patient survey found a 24% decrease in satisfaction among adults in Britain in how NHS is run (now at a mere 21%). Dissatisfaction rose from 52% to 59% in the past year.
General practice, accident and emergency, and dental care were the areas of biggest disappointment, the study revealed.
“It is by far the most dramatic loss of confidence in how the NHS runs that we have seen in 40 years of this survey,” said Mark Dayan, a policy analyst at the Nuffield Trust who was engaged by The King’s Fund to analyze the survey data.
“There is a need to better understand the patient perspective following harm and for further consideration of what a person-centered approach to resolution and recovery might look like,” the researchers noted in BMJ Quality and Safety.
These types of findings can contribute to public mistrust of healthcare organizations worldwide, including clinical laboratories and pathology groups. It’s worth watching how the NHS resolves these issues.
These advances in the battle against cancer could lead to new clinical laboratory screening tests and other diagnostics for early detection of the disease
As Dark Daily reported in part one of this story, the World Economic Forum (WEF) has identified 12 new breakthroughs in the fight against cancer that will be of interest to pathologists and clinical laboratory managers.
As we noted in part one, the WEF originally announced these breakthroughs in an article first published in May 2022 and then updated in October 2024. According to the WEF, the World Health Organization (WHO) identified cancer as a “leading cause of death globally” that “kills around 10 million people a year.”
The WEF is a non-profit organization base in Switzerland that, according to its website, “engages political, business, academic, civil society and other leaders of society to shape global, regional and industry agendas.”
Monday’s ebrief focused on four advances identified by WEF that should be of particular interest to clinical laboratory leaders. Here are the others.
Personalized Cancer Vaccines in England
The National Health Service (NHS) in England, in collaboration with the German pharmaceutical company BioNTech, has launched a program to facilitate development of personalized cancer vaccines. The NHS Cancer Vaccine Launch Pad will seek to match cancer patients with clinical trials for the vaccines. The Launch Pad will be based on messenger ribonucleic acid (mRNA) technology, which is the same technology used in many COVID-19 vaccines.
The BBC reported that these cancer vaccines are treatments, not a form of prevention. BioNTech receives a sample of a patient’s tumor and then formulates a vaccine that exposes the cancer cells to the patient’s immune system. Each vaccine is tailored for the specific mutations in the patient’s tumor.
“I think this is a new era. The science behind this makes sense,” medical oncologist Victoria Kunene, MBChB, MRCP, MSc (above), trial principal investigator from Queen Elizabeth Hospital Birmingham (QEHB) involved in an NHS program to develop personalized cancer vaccines, told the BBC. “My hope is this will become the standard of care. It makes sense that we can have something that can help patients reduce their risk of cancer recurrence.” These clinical trials could lead to new clinical laboratory screening tests for cancer vaccines. (Photo copyright: Queen Elizabeth Hospital Birmingham.)
Seven-Minute Cancer Treatment Injection
NHS England has also begun treating eligible cancer patients with under-the-skin injections of atezolizumab, an immunotherapy marketed under the brand name Tecentriq, Reuters reported. The drug is usually delivered intravenously, a procedure that can take 30 to 60 minutes. Injecting the drug takes just seven minutes, Reuters noted, saving time for patients and cancer teams.
The drug is designed to stimulate the patient’s immune system to attack cancer cells, including breast, lung, liver, and bladder cancers.
AI Advances in India
One WEF component—the Center for the Fourth Industrial Revolution (C4IR)—aims to harness emerging technologies such as artificial intelligence (AI) and virtual reality. In India, the organization says the Center is seeking to accelerate use of AI-based risk profiling to “help screen for common cancers like breast cancer, leading to early diagnosis.”
Researchers are also exploring the use of AI to “analyze X-rays to identify cancers in places where imaging experts might not be available.”
Using AI to Assess Lung Cancer Risk
Early-stage lung cancer is “notoriously hard to detect,” WEF observed. To help meet this challenge, researchers at Massachusetts Institute of Technology (MIT) developed an AI model known as Sybil that analyzes low-dose computed tomography scans to predict a patient’s risk of getting the disease within the next six years. It does so without a radiologist’s intervention, according to a press release.
Using Genomics to Identify Cancer-Causing Mutations
In what has been described as the “largest study of whole genome sequencing data,” researchers at the University of Cambridge in the UK announced they have discovered a “treasure trove” of information about possible causes of cancer.
Using data from England’s 100,000 Genomes Project, the researchers analyzed the whole genome sequences of 12,000 NHS cancer patients.
This allowed them “to detect patterns in the DNA of cancer, known as ‘mutational signatures,’ that provide clues about whether a patient has had a past exposure to environmental causes of cancer such as smoking or UV light, or has internal, cellular malfunctions,” according to a press release.
The researchers also identified 58 new mutational signatures, “suggesting that there are additional causes of cancer that we don’t yet fully understand,” the press release states.
The study appeared in April 2022 in the journal Science.
Validation of CAR-T-Cell Therapy
CAR-T-cell therapy “involves removing and genetically altering immune cells, called T cells, from cancer patients,” WEF explained. “The altered cells then produce proteins called chimeric antigen receptors (CARs), which can recognize and destroy cancer cells.”
The therapy appeared to receive validation in 2022 when researchers at the University of Pennsylvania published an article in the journal Nature noting that two early recipients of the treatment were still in remission after 12 years.
However, the US Food and Drug Administration (FDA) announced in 2023 that it was investigating reports of T-cell malignancies, including lymphoma, in patients who had received the treatment.
WEF observed that “the jury is still out as to whether the therapy is to blame but, as a precaution, the drug packaging now carries a warning.”
Breast Cancer Drug Repurposed for Prevention
England’s NHS announced in 2023 that anastrozole, a breast cancer drug, will be available to post-menopausal women to help reduce their risk of developing the disease.
“Around 289,000 women at moderate or high risk of breast cancer could be eligible for the drug, and while not all will choose to take it, it is estimated that if 25% do, around 2,000 cases of breast cancer could potentially be prevented in England, while saving the NHS around £15 million in treatment costs,” the NHS stated.
The tablet, which is off patent, has been used for many years to treat breast cancer, the NHS added. Anastrozole blocks the body’s production of the enzyme aromatase, reducing levels of the hormone estrogen.
Big Advance in Treating Cervical Cancer
In October 2024, researchers announced results from a large clinical trial demonstrating that a new approach to treating cervical cancer—one that uses currently available therapies—can reduce the risk of death by 40% and the risk of relapsing by 36%.
“This is the biggest improvement in outcome in this disease in over 20 years,” said Mary McCormack, PhD, clinical oncologist at the University College London and lead investigator in the trial.
The scientists published their findings in The Lancet.
Pathologists and clinical lab managers will want to keep track of these 12 breakthrough advancements in the diagnosis and treatment of cancer highlighted by the WEF. They will likely lead to new screening tests for the disease and could save many lives.
Findings could lead to new clinical laboratory cancer screening tests for BRCA1 and BRCA2 among specific population regions
Descendants of a remote Scottish island are much more likely to carry a cancer-causing BRCA2 gene than the rest of the UK. That’s according to a study conducted by the University of Edinburgh in Scotland. For pathologists and clinical laboratory managers, the study’s findings demonstrate how ongoing research into the genetic makeup of subpopulations will find groups that have higher risk for specific health conditions than the general population. Thus, diagnosticians can pay closer attention to screening these groups to achieve early diagnosis and intervention.
“The findings follow earlier research from the Viking Genes study that found a cancer-causing variant in the related BRCA1 gene, common among people from Orkney [a group of islands off Scotland’s northern coast],” noted a University of Edinburgh news release.
In their latest research, the genetic scientists discovered that the BRCA2 gene can be found in one in every 40 people with heritage from the island of Whalsay in Scotland’s Shetland island group. This gene is one of the most common genes that can be linked to breast cancer and ovarian cancer in women and breast and prostate cancer in men.
Those who inherit the BRCA2 gene have a significantly higher risk of developing certain cancers than the general population. For example, according to the National Cancer Institute, more than 60% of women who inherit the gene will develop breast cancer in their lifetimes.
The volunteers in the Viking Genes study have a risk of having a BRCA2 gene that is 130 times higher than the general UK population. According to the BBC, geneticists believe the gene can be traced back to one family from the island of Whalsay before 1750.
“It is very important to understand that just two gene changes account for more than 90% of the inherited cancer risk from BRCA variants in Orkney and Shetland. This is in stark contrast to the situation in the general UK population, where 369 variants would need to be tested to account for the same proportion of cancer risk from BRCA genes. Any future screening program for the Northern Isles should therefore be very cost-effective,” said James Wilson, DPhil, FRCPE (above), Professor of Human Genetics at University of Edinburgh and leader of the study, in a news release. Clinical laboratories in the UK will be involved in those screenings. (Photo copyright: Scottish Genomes Partnership.)
Early Diagnosis Brings Hope to Families
The UK’s National Health Service (NHS) offers genetic testing to relatives of people with a known BRCA variant. Individuals with at least one Whalsay grandparent, and who have a close family history of breast, ovarian, or prostate cancer, can also request NHS testing.
As the BBC reported, University of Edinburgh’s discovery has given families answers and hope for the future. Individuals who fit the criteria for being at risk of inheriting the BRCA gene can narrow their testing and work more specifically on preventative measures with their doctors.
Christine Glaser, a woman from Lerwick in Shetland, learned she carried the BRCA gene after participating in the study. Though the Viking genes research took place nearly a decade ago, scientific understanding of genes has improved allowing geneticists to draw new conclusions from previous studies.
Although Glaser lost her sister to ovarian cancer, she and her family were unaware of their heightened genetic risk.
“I got offered preventative measures so I could get my ovaries removed and I could get a mastectomy. So, that’s what I did … when I got my ovaries removed, they checked them and there was no cancer, but then I had a mammogram and they found cancer,” she told the BBC. Glaser’s cancer was successfully treated thanks to early detection.
Closing Gap in Genetic Testing
“This BRCA2 variant in Whalsay I think arose prior to 1750. This is why these things become so common in given places because many people descend from a couple quite far back in the past, and if they have a cancer variant, then a significant number of people today—five or even 10 generations later—will have it. This is true everywhere in Scotland, it’s just magnified in these small places,” said James Wilson, DPhil, FRCPE, Professor of Human Genetics at University of Edinburgh, who led the study on Viking genes that found individuals with familial ties to two small Scottish communities may be at a higher risk of having a cancer-causing gene.
Wilson hopes to see testing for these genetic abnormalities become more common for these at-risk communities.
“The Ashkenazi Jewish community have BRCA1 and BRCA2 variants that also have a frequency of about one in 40,” he told the BBC. “The Ashkenazi Jewish population in England are able to take part in genetic testing for these genes but that’s not yet the case in Scotland.”
The findings of the most recent University of Edinburgh genetic study are very new. Future developments and offerings from the NHS may be influenced by the results.
Deeper understanding about the genetic make-up of certain population subgroups could lead to new genetic personalized medicine and preventative testing for those at risk of hereditary cancer. In turn, it could also encourage individuals to seek preventative care earlier. Thus, pathologists and clinical laboratory managers should keep an eye on these developments and be prepared to work with geneticists who may develop new screening methods for BRCA1 and BRCA2.
