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UK’s NHS Offers Blood Pressure Screening for Men in Barber Shops and Other Public Locations in an Effort to Reach Consumers Where They Live and Work

This pioneering innovation is consistent with the trend to bring medical services to places more convenient for consumers and was spurred by a study which showed men twice as likely to have heart attacks than women

Patient-facing healthcare gets a boost with this novel program to offer a diagnostic service in locations frequented by men. In an attempt to decrease heart attacks in the UK, the country’s National Health Service (NHS) now employs a novel approach to prevention—bringing blood pressure screenings to the public in barbershops.

This is yet another example of moving diagnostics services out of traditional healthcare settings and reaching people in places that they visit in their daily lives. True, this is a blood pressure test. But once the service is established, it should be easy to collect other types of clinical laboratory specimens at barbershops as well. And if this approach enables healthcare policy makers to reach a population that needs further diagnostic tests—and it’s economically feasible—that may encourage adoption of this approach for other types of health screenings.

According to The Guardian, the screenings will be available at “barbershops, churches, mosques, community centers, and dominoes clubs.” The intention is to ensure screenings are more accessible, to educate the public, and to encourage lifestyle changes that lead to prevention.

This consumer-directed approach to healthcare by the NHS appears to be making a difference. The new screening locations already show promise. In 2023, efforts brought in 150,000 community-based blood pressure screenings by August. That more than doubled the previous year’s 58,000 that were performed by May, The Guardian noted.

The funding for this initiative is part of the NHS’ Delivery Plan for Recovering Access to Primary Care, an NHS England news release announced.

David Webb

“With the number of people living with major illnesses including heart disease and other cardiovascular conditions set to grow substantially over the coming years, it has never been more important to put in place preventive measures like easy-to-access blood pressure checks that can pick up the early signs and risks,” said David Webb (above), Chief Pharmaceutical Officer for England, NHS England, in a news release. Should this program succeed, it’s likely other types of clinical laboratory test specimens could also be collected in barbershops and other convenient locations. (Photo copyright: Paul Stuart/The Pharmaceutical Journal.)

Importance of Screening

According to the UK’s Health Foundation, more than 9.1 million people will have a major illness by 2040, and figures show an increase of 2.5 million from 2019 reports. These figures are “why prevention and early intervention tools such as community blood pressure checks are key priorities for the NHS,” the NHS news release states.

“Having high blood pressure raises the risk of a heart attack, but many men and women remain unaware they may be affected because typically there are no symptoms,” The Guardian reported. “Every year there are 100,000 NHS hospital admissions due to heart attacks—one every five minutes.”

The NHS’ moves were spurred by recent findings announced at the European Society of Cardiology’s 2023 annual meeting. The world’s largest heart conference showcased a 22-year-long study examining the gender-specific risks of cardiovascular diseases. The results clearly showed that men were twice as likely to experience heart attacks and peripheral artery disease than women.

The University of Aberdeen conducted the study which ran from 1993-2018 and followed 20,000 individuals over the age of 40. While researchers noted many factors—such as ethnicity, body mass index (BMI), physical activity, deprivation, consumption of alcohol, and cigarette smoke—a clear defining line landed between male and female participants, The Guardian reported. Additionally,“Men are also more likely to experience a heart attack at a younger age than women.”

And, according to the study, while cardiovascular disease was higher for men during their entire lifetime, “sex differences were most pronounced for myocardial infarction and peripheral artery disease, followed by atrial fibrillation, heart failure, and cardiovascular mortality,” The Guardian reported, adding, “Men also have a 50% higher risk of heart failure and atrial fibrillation. The study discovered that men have a 42% higher risk of dying from cardiovascular disease. The research did not look at why.”

Education Part of Prevention

“Men should start looking early at-risk factors, like obesity, lack of exercise, smoking, alcohol consumption, and reach out to their GP to get those things addressed. The earlier the better. There’s no harm in minimizing your cardiovascular risk,” Tiberiu Pana, MRes, lead researcher and honorary research fellow at the University of Aberdeen, told The Guardian. Pana is also a junior doctor in the NHS and focuses on cardiovascular epidemiology and the brain-heart interactions.

“Coronary heart disease is the most common killer of men. There’s never been a better time to get physically active and replace that pub session with an extra session in the gym,” cardiologist Sonya Babu-Narayan, MBBS, Associate Medical Director at the British Heart Foundation, told The Guardian. Babu-Narayan is also a consultant cardiologist at Royal Brompton Hospital.

Women, however, are not exempt from the risk of heart disease.

“If we consider the effects of heart disease over a lifetime, we need to remember that it costs lives for both men and women,” Babu-Narayan said. “With 30,000 women in the UK admitted to hospital with a heart attack each year, it is vital to dismantle the dogma that heart attacks are the preserve of men. Regardless of gender, cardiovascular disease is the world’s biggest killer and there are steps everyone can take to reduce their risks.”

In addition to the aforementioned community locations for screenings, NHS has launched a few other approaches to meet patients on their own turf.

A mobile blood pressure service named How’s Thi Ticker in Barnsley, South Yorkshire, “travels around local neighborhoods including to barber shops, supermarkets, and community centers, seeing more than a third of people referred to pharmacists with high blood pressure—freeing up GPs and catching early signs of heart attack and stroke risk,” according to the NHS news release.

Future Showing Further Promise

As the process continues, NHS expects to prevent 1,350 cardiovascular events every year, and expects to see 2.5 million more blood pressure checks performed in the community in England as a result of the endeavor, The Guardian noted.

One can only imagine how far this trend can go. Clinical laboratory managers and pathologists can expect healthcare policy makers in the UK to continue their efforts to bring needed diagnostic testing to underserved populations in accessible ways. This should be a win-win financially and in improving the health of the country’s population.

—Kristin Althea O’Connor

Related Information:

Men in England to Be Offered Blood Pressure Checks in Barbershops

NHS Blood Pressure Checks at the Barbers to Prevent Killer Conditions

Delivery Plan for Recovering Access to Primary Care

Healthcare Strikes Around the World Challenge Pay and Poor Working Conditions

Millions of cancelled healthcare appointments and lengthy waits for care abound in UK, New Zealand, and in the US

Strikes continue on multiple continents as thousands of healthcare workers walk off the job. Doctors, medical laboratory scientists, nurses, phlebotomists and others around the world have taken to the picket lines complaining about low wages, inadequate staffing, and dangerous working conditions.

In England, junior doctors (the general equivalent of medical interns in the US) continue their uphill battle to have their complaints heard by the UK government. As a result, at hospitals and clinics throughout the United Kingdom, more than one million appointments have been cancelled due to strikes, according to the BBC.        

“The true scale of the disruption is likely to be higher—many hospitals reduce bookings on strike days to minimize last-minute cancellations,” the BBC reported. “A total of one million hospital appointments have had to be rescheduled along with more than 60,000 community and mental health appointments since December [2022], when industrial action started in the National Health Service (NHS).”

According to The Standard, “Consultants in England are to be re-balloted over the prospect of further strike action as doctors and the government remain in talks with a view to end the dispute. The British Medical Association (BMA) said that specialist, associate specialist, and specialty (SAS) doctors will also be balloted over potential strike action.”

Ujjwala Anand Mohite, DRCPath, FEBPath

“We must be prepared to take the next step and ballot for industrial action if we absolutely have to—and we will do this … if upcoming negotiations fail to achieve anything for our profession,” Ujjwala Anand Mohite, DRCPath, FEBPath (above), a histopathologist at the NHS, Dudley Group of Hospitals, and the first female Chair of the SAS committee UK, told The Guardian.

New Zealand Doctors, Clinical Laboratory Workers Strike

In September, the first-ever nationwide senior doctor strike occurred in New Zealand and was then followed by another strike of about 5,000 doctors and 100 dentists from New Zealand’s public hospitals, the World Socialist Web Site reported.

Similar to the UK, the strikes reflect mounting frustration over pay not keeping up with inflation and “decades of deteriorating conditions in the public health system,” the WSWS noted.

This follows months of strikes by the island nation’s medical laboratory workers, which are ongoing.

In “Medical Laboratory Workers Again on Strike at Large Clinical Laboratory Company Locations around New Zealand,” Dark Daily covered how medical technicians, phlebotomists, and clinical laboratory scientists in New Zealand were going on strike for fairer pay in various areas around the country. Their complaints mirror similar complaints by healthcare and clinical laboratory workers in the US.

“Our pay scales, if you compare them internationally, are not competitive. About half of our specialists come from abroad, so it’s quite important for the country’s health system to be able to attract and keep people,” Andy Davies, a lung specialist who joined the picket outside 484-bed Wellington Hospital, told the WSWS.  

“We’re not asking for the world, we’re asking for an inflationary pay rise, and we haven’t had an inflationary pay rise year-on-year, and it’s beginning to show,” he added.

“What type of health system do they want?” he continued. “Do we want one that treats all people and manages what they need, or do we want a hacked down system that does less?”

The conflicts over pay and working conditions have caused many healthcare workers in New Zealand to leave the field entirely. This has led to severe shortages of qualified workers.

“Patient waiting times—for cancer, hip replacements, cardiac problems, and many other conditions—have exploded due to understaffed and overwhelmed hospitals,” the WSWS reported.

US Healthcare Workers also Striking

The US has its share of striking healthcare workers as well. Healthcare Dive tracked 23 ongoing or anticipated strikes throughout the nation’s healthcare industry since January 1, 2023. In 2022, there were 15 strikes of healthcare workers at the nation’s hospitals and health systems.

These walkouts include doctors, nurses, pharmacy workers, imaging specialists, and thousands of frontline healthcare workers striking over dangerously low staffing levels, unsafe working conditions, and low pay.

In October, 75,000 nurses, support staff, and medical technicians from Kaiser Permanente participated in a 72-hour strike comprised of hundreds of hospitals and clinics throughout California, Washington state, Oregon, Virginia, and the District of Columbia, Reuters reported.

The three-day strike, “Marked the largest work stoppage to date in the healthcare sector,” Reuters noted. Doctors, managers, and contingency workers were employed to keep hospitals and emergency departments functioning.

“The dispute is focused on workers’ demands for better pay and measures to ease chronic staff shortages and high turnover that union officials say has undermined patient care at Kaiser,” Reuters stated.

Staffing shortages following the COVID-19 pandemic are partly to blame for current struggles, but contract staffing to fill critical positions has exacerbated the problem.

“Kaiser’s outsourcing of healthcare duties to third-party vendors and subcontractors has also emerged as a major sticking point in talks that have dragged on for six months. … The clash has put Kaiser Permanente at the forefront of growing labor unrest in the healthcare industry—and across the US economy—driven by the erosion of workers’ earning power from inflation and pandemic-related disruptions in the workforce,” Reuters noted.

Across the globe, many healthcare workers—including clinical laboratory scientists in countries like New Zealand—are feeling burnt out from working in understaffed departments for inadequate pay. Hopefully, in response to these strikes, governments and healthcare leaders can come to resolutions that bring critical medical specialists back to work.

—Kristin Althea O’Connor

Related Information:

Junior Doctors in England to Hold Strike Talks with Government

NHS Strikes: More than a Million Appointments Cancelled in England

England’s National Health Service Operates on Holiday-Level Staffing as Doctors’ Strike Escalates

New Zealand Doctors Hold Second Strike

Strike Talks Continue Between BMA and Government as Doctors Decide on Next Steps

Why Health Care Workers Are Striking

US Healthcare Workers Walk Off the Job: 22 Strikes in 2023

Tracking Healthcare Worker Strikes

Kaiser Permanente Resumes Talks with Healthcare Workers Union Week after Strike

Medical Laboratory Workers Again on Strike at Large Clinical Laboratory Company Locations around New Zealand

Private Healthcare on Rise as Britain’s Public Healthcare System Faces Horrific Conditions, Walkouts

Challenges abound as the NHS tries to recover before UK citizens move to private insurance; some patients have wait times of up to six months for a histopathology diagnosis of cancer

Britain’s National Health Service (NHS) is in dire straits. The UK’s vaunted state-run healthcare system is overrun with appallingly poor conditions, impossibly long wait times, diminished care, and multiple walk-outs in various medical fields that Dark Daily reported on last week in “British Junior Doctors Stage Four-Day Walkout Demanding Increased Pay and Better Working Conditions.”

As we noted, thousands of clinical laboratory tests and surgical pathology readings had to be delayed or cancelled due to the strikes.

An NHS worker in a Liverpool hospital told CNN that conditions felt like a “war zone” with patients being treated in the backs of ambulances, corridors, waiting rooms, cupboards, or not at all since hospitals are well over capacity.

As a result, UK residents are increasingly bypassing the long wait times for the NHS’ “free” healthcare and instead paying out of pocket for private health insurance, CNN reported in “Why is Britain’s Health Service, a Much-loved National Treasure, Falling Apart?

Chris Thomas

“Those who can afford to get private insurance are,” Chris Thomas (above), told The Guardian. Thomas is Head of the Commission on Health and Prosperity for UK progressive policy think tank the Institute for Public Policy Research (IPPR). “People are not opting out of the NHS because they have stopped believing in it as the best and fairest model of healthcare,” he said. “Rather, those who can afford it are being forced to go private … and those without the funds are left to ‘put up or shut up.’” (Photo copyright: Institute for Public Policy Research.)

Two-Tier System Could Become UK’s Norm, Dividing Classes

The drive towards private insurance is leaving Britain on the brink of having a “two-tier” system where the NHS is overpowered by private healthcare. And it’s not an unwarranted fear. One in six people in Britain are prepared to use private healthcare instead of waiting for the NHS, The Guardian reported.

A report from the Institute for Public Policy Research (IPPR) claims a UK two-tiered system would not mimic what we have here in the US. Rather, if the trend continues in the private direction, it would more likely be comparable to dentistry in England, “… where poor NHS access exists for some and superior but expensive access exists for many. We stand at the precipice of a growing ‘opt-out’ by those who can,” according to the IPPR report, The Guardian noted.

More importantly, this could further divide classes. “Such a trend could threaten the deep and widespread public support for the NHS among voters and leave millions of patients vulnerable because of their ethnicity, postcode, income or job,” The Guardian noted the IPPR report as saying.

In an op-ed she penned for CNN, titled, “We Can Barely Breathe. How Did Britain’s Treasured NHS Get So Sick?” Internal Medicine Junior Doctor for NHS in South East England, Roopa Farooki, MD, described the conditions her son witnessed when he arrived at her ER with a shoulder injury on one of her days off.

“It’s different when you see your everyday reality though naïve eyes. He saw the elderly patients on the jigsaw of trolleys crammed into the department, pushed against the wall, squeezed in the gap between the bed and nursing stations.

“He saw the fluids hanging from rails where we had no stands, lines running into the patient’s forearms. He saw the oxygen fed into their noses from cylinders propped along the bed, the cacophony of beeping machines and alarms.

“It doesn’t look like it does on the TV. It doesn’t even look like it does on reality TV,” she wrote.

The healthcare statistics are alarming. According to CNN:

  • There was a 20% increase in excess deaths the final week of December 2022, compared to the previous five years.
  • Half of patients waiting for emergency care that month waited for more than four hours, which was a record.
  • Also in December, 54,000 people waited more than 12 hours for emergency admission. The wait was “virtually zero” prior to the COVID-19 pandemic.
  • And “category 2” conditions, such as a stroke or heart attack, had a more than 90-minute wait time for ambulance attendance. The target response time is 18 minutes.

Dim Hopes for Improvement

Though the NHS has struggled in recent years, the challenges are seemingly worse now. “This time feels different. It’s never been as bad as this,” gastroenterologist Peter Neville, MD, a consultant physician who worked with the NHS since 1989, told CNN.

CNN noted that a perfect storm of challenges might have brought the NHS to where it is today. COVID-19, flu seasons paired with COVID, lack of financial support, lack of social support, staffing and morale issues are just some of the problems that the NHS must address.

Experts point out that as the NHS’ struggles increase so begins a loop where one problem feeds another. Patients who wait to be seen have treatments that take longer, then they get sicker, and the cycle continues.

Despite having one of the highest proportions of government healthcare spending on Earth, up to 40% of Britons report having accessed or plan to access private care, Breitbart reported.

Sadly, it’s unlikely enough cash will come in from the UK government to make significant improvements for the NHS. The budget announcement in November showed the NHS was to get an average 2% spending increase over the next two years, CNN reported.

Are there lessons here for US hospitals, clinical laboratories, and pathology groups? Perhaps. It’s always instructive to see how our fellow healthcare providers across the pond respond to public pressure for more access to quality care.

—Kristin Althea O’Connor

Related Information:

Why is Britain’s Health Service, a Much-Loved National Treasure, Falling Apart

Private Healthcare Boom Adds to Fears of Two-Tier System in UK

IPPR Report: The State Of Health and Care 2022

Opinion: ‘We Can Barely Breathe,’ How did Britain’s Treasured NHS Get So Sick?

Britons Flock to Private Doctors as Socialized Healthcare Fails to Deliver on Time

British Junior Doctors Stage Four-Day Walkout Demanding Increased Pay and Better Working Conditions

British Junior Doctors Stage Four-Day Walkout Demanding Increased Pay and Better Working Conditions

More than 10,000 doctors walked out for the second time in two months, further burdening an already overwhelmed NHS

On April 11, tens of thousands of junior doctors (similar to medical residents in the US) left their posts in British hospitals commencing a four-day walkout. The strike resulted in the cancellation of thousands of operations and appointments, as well as cancelling or delaying thousands of clinical laboratory tests and anatomic pathology readings associated with those healthcare visits and surgical procedures.

The walkout was spurred by pay concerns and working conditions and comes on the heels of a three-day strike last month. That strike had already weakened the UK’s frail National Health System (NHS), which has become inundated with appointment backlogs that predate the COVID-19 pandemic, and which has led to longer wait times to see a doctor, ABC News reported.

This latest strike was more perilous since the senior doctors who covered for their juniors during last month’s strike were previously on leave for a holiday weekend, United Press International (UPI) reported.

Matthew Taylor

“These strikes are going to have a catastrophic impact on the capacity of the NHS to recover,” Matthew Taylor (above), Chief Executive of the NHS Confederation, told Sky News. “The health service has to meet high levels of demand at the same time as making inroads into that huge backlog … That’s a tough thing to do at the best of times—it’s impossible to do when strikes are continuing.” (Photo copyright: Wikimedia Commons.)

Junior Docs Cite Injustice

Junior doctors who walked out are calling for a 35% pay raise to right the wrongs of 15 years of below-inflation raises, but the government continues to argue it cannot afford to increase pay, UPI noted.

“There is nothing ‘junior’ about the work I have done as a doctor. For an hour of work that I might save a life, I can be paid 19£ [$23.65],” said Jennifer Barclay, MD, a surgical junior doctor in the UK’s North West electoral zone, in a British Medical Association (BMA) press release.

“My dad, an electrician, tells me to quit and retrain in his footsteps. I’d be earning more, have less stress, less responsibility, better hours, and a better work-life balance after three years,” she added. “Surely, this life, this training, responsibility, debt, and crushing workload is worth more than 19£ per hour? I’ll be on the picket line this week because doctors believe that it is.”

According to the BMA, newly qualified junior doctors earn just over 14£ ($17.43) per hour, ABC News reported, which added, “The doctors’ union has asked for a 35% pay rise to bring junior doctor pay back to 2008 levels.”

However, their pay demands come in the midst of a cost-of-living crisis in the UK. Inflation has risen above 10%. Paired with increases in heating costs and food prices mean that decreased wages leave many struggling to pay bills, ABC news reports.

A hard-hitting BMA advertising campaign designed to shine light on these disparities depicts three junior doctors (with one-, seven-, and 10-years’ experience) removing an appendix. The video shows that the total the three would be paid for the hour-long operation would be 66.55£ ($82.84):

  • Doctor with one year experience: 14.09£ ($17.54).
  • Doctor with two years’ experience: 24.46£ ($30.45).
  • Doctor with three years’ experience: 28£ ($34.85).

And this for performing a potentially life-saving procedure, the BMA stated.

In the press release, BMA Junior Doctors Committee co-chairs Robert Laurenson and Vivek Trivedi said, “It is appalling that this government feels that paying three junior doctors as little as 66.55£ between them for work of this value is justified. This is highly skilled work requiring years of study and intensive training in a high-pressure environment where the job can be a matter of life or death.”

Patient Care is Affected

Lower salaries also affect patient care levels and have led to recruitment issues, with many doctors leaving the profession, the BBC reported. “This is not a situation where we are fixed in our position. We’re looking for negotiations and Steve Barclay (UK’s Secretary of State for Health and Social Care) isn’t even willing to talk to us. He hasn’t put any offer at all on the table … there has to be two sides in the discussion,” Emma Runswick, MD, a junior doctor and deputy chairwoman of the BMA, told the BBC.

But while the junior doctors battle for wages, the government’s initial focus has been on patient wellbeing. “There will be risks to patient safety, risks to patient dignity, as we are not able to provide the kind of care we want to,” NHS Confederation Chief Executive Matthew Taylor told UPI prior to the walkout.

The timing of the walkout also caused consternation with the NHS. “Not only will walkouts risk patient safety, but they have been timed to maximize disruption after the Easter break,” Health Secretary Barclay told UPI as the walkout was announced.

Barclay also claimed the amount sought by doctors was “unreasonable” and would cause raises above $25,000 per year, UPI reported. “If the BMA is willing to move significantly from this position and cancel strikes, we can resume confidential talks and find a way forward as we have done with other unions,” he stated.

It is important to note that doctors would be pulled from picket lines if immediate danger were present due to trade union laws that say life-and-limb coverage must be provided, the BMA told the BBC.

—Kristin Althea O’Connor

Related Information:

Junior Doctors’ Strike: Patient Care ‘On a Knife Edge’ as Up to 350,000 Appointments Could Be Cancelled During Four-Day Walkout

British Doctors Walk Out of Hospitals at Start of Crippling Four-Day Strike

Tens of Thousands of Doctors in Britain to Participate in 4-Day Walkout

Three Junior Doctors Would Earn Just 66£ Between Them for Taking Out Your Appendix, says BMA in New Advertising Campaign

English Docs Strike Could be Catastrophic, Officials Say”

Junior Doctors’ Strike Puts Patients at More Risk-Barclay

HSN Explains What a Junior Doctor Is

NHS System Explained

Why Is Britain’s Health Service, a Much-Loved National Treasure, Falling Apart?

England’s National Health Service to Offer Widespread Rapid Whole Genome Sequencing for Children and Babies

Research in the UK and US into how rapid WGS can prevent deaths and improve outcomes for kids with rare genetic diseases may lead to more genetic testing based in local clinical laboratories

Genetic scientists with the National Health Service (NHS) in England have embarked on an ambitious plan to offer rapid whole genome sequencing (rWGS) for children and babies with serious illnesses, as part of a larger initiative to embrace genomic medicine in the United Kingdom (UK).

The NHS estimates that the plan will benefit more than 1,000 children and babies each year, including newborns with rare diseases such as cancer, as well as kids placed in intensive care after being admitted to hospitals. Instead of waiting weeks for results from conventional tests, clinicians will be able to administer a simple blood test and get results within days, the NHS said in a press release.

The press release notes that about 75% of rare genetic diseases appear during childhood “and are responsible for almost a third of neonatal intensive care deaths.”

Here in the United States, pathologists and clinical laboratory managers should see this development as a progressive step toward expanding access to genetic tests and whole genome sequencing services. The UK is looking at this service as a nationwide service. By contrast, given the size of the population and geography of the United States, as this line of medical laboratory testing expands in the US, it will probably be centered in select regional centers of excellence.

The NHS laid out its implementation plan in a strategy paper published on NHS England’s website titled, “Accelerating Genomic Medicine in the NHS.”

“This strategy sets out how more people will be empowered to take preventative action following risk-based predictions, receive life-changing diagnoses, and get the support needed to live with genomically-informed diagnoses alongside improved access to cutting-edge precision [medicine] treatments. It also outlines how the NHS will accelerate future high-quality genomic innovation that can be adopted and spread across the country, leading to positive impacts for current and future generations,” the NHS wrote.

Amanda Pritchard

“This global first is an incredible moment for the NHS and will be revolutionary in helping us to rapidly diagnose the illnesses of thousands of seriously ill children and babies—saving countless lives in the years to come,” said NHS chief executive Amanda Pritchard (above) in a press release announcing the program. (Photo copyright: Hospital Times.)

New Rapid Whole Genome Sequencing Service

The NHS announced the plan following a series of trials last year. In one trial, a five-day old infant was admitted to a hospital in Cheltenham, Gloucester, with potentially deadly levels of ammonia in his blood. Whole genome sequencing revealed that changes in the CPS1 gene were preventing his body from breaking down nitrogen, which led to the spike in ammonia. He was given life-saving medication in advance of a liver transplant that doctors believed would cure the condition. Without the rapid genetic test, doctors likely would have performed an invasive liver biopsy.

Following sample collection at NHS locations, the genetic tests will be performed at the new National Rapid Whole Genome Sequencing Service, part of the South West NHS Genomic Laboratory Hub run by the Royal Devon University Healthcare NHS Foundation Trust in Exeter, UK.

Using a simple blood test, the new newborn genetic screening service in England is expected to benefit more than 1,000 critically ill infants each year, potentially saving their lives. “The rapid whole genome testing service will transform how rare genetic conditions are diagnosed,” explained Emma Baple, PhD, Professor of Genomic Medicine at University of Exeter Medical School and leader of the National Rapid Whole Genome Sequencing Service in the press release. “We know that with prompt and accurate diagnosis, conditions could be cured or better managed with the right clinical care, which would be life-altering—and potentially life-saving—for so many seriously unwell babies and children,” Precision Medicine Institute reported.

According to The Guardian, test results will be available in two to seven days.

Along with the new rWGS testing service, the NHS announced a five-year plan to implement genomic medicine more broadly. The provisions include establishment of an ethics advisory board, more training for NHS personnel, and an expansion of genomic testing within the existing NHS diagnostic infrastructure. The latter could include using NHS Community Diagnostics centers to collect blood samples from family members to test for inherited diseases.

UK’s Longtime Interest in Whole Genome Sequencing

The UK government has long been interested in the potential role of WGS for delivering better outcomes for patients with genetic diseases, The Guardian reported.

In 2013, the government launched the 100,000 Genomes Project to examine the usefulness of the technology. In November 2021, investigators with the project reported the results of a large pilot study in which they analyzed the genomes of 4,660 individuals with rare diseases. The study, published in the New England Journal of Medicine (NEJM) titled, “100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report,” found “a substantial increase in yield of genomic diagnoses made in patients with the use of genome sequencing across a broad spectrum of rare disease.”

The study’s findings suggest that use of WGS “could save the NHS millions of pounds,” The Guardian reported.

Whole Genome Sequencing System for Newborns in the US

Researchers in the United States are also looking at the potential for WGS to improve health outcomes in children with genetic conditions. Last August, a research team led by Stephen F. Kingsmore, MD, DSc, President/CEO of Rady Children’s Institute for Genomic Medicine in San Diego, authored a study published in the American Journal of Human Genetics (AJHG) titled, “A Genome Sequencing System for Universal Newborn Screening, Diagnosis, and Precision Medicine for Severe Genetic Diseases,” that described a scalable prototype for a newborn screening system.

“This NBS-rWGS [newborn screening by rapid whole genome sequencing] system is designed to complement the existing newborn screening process and has the potential to eliminate the diagnostic and therapeutic odyssey that many children and parents face,” Kingsmore said in a press release. “Currently, only 35 core genetic disorders are recommended for newborn screening in the United States, but there are more than 7,200 known genetic diseases. Outcomes remain poor for newborns with a genetic disease because of the limited number of recommended screenings. With NBS-rWGS, we can more quickly expand that number and therefore potentially improve outcomes through precision medicine.”

A more recent 2023 study which examined 112 infant deaths at Rady Children’s Hospital found that 40% of the babies had genetic diseases. In seven infants, genetic diseases were identified post-mortem, and in five of them “death might have been avoided had rapid, diagnostic WGS been performed at time of symptom onset or regional intensive care unit admission,” the authors wrote.

“Prior etiologic studies of infant mortality are generally retrospective, based on electronic health record and death certificate review, and without genome information, leading to underdiagnosis of genetic diseases,” said Christina Chambers, PhD, co-author of the study, in a press release. “In fact, prior studies show at least 30% of death certificates have inaccuracies. By implementing broad use of genome sequencing in newborns we might substantially reduce infant mortality.” 

Pioneering work with whole genome sequencing for newborns, such as that being conducted by the clinical laboratory and genetic teams at Rady Children’s Hospital and the UK’s NHS, could allow doctors to make timely interventions for our most vulnerable patients.

—Stephen Beale

Related Information:

Study Suggests DNA Sequencing Could Reduce Infant Deaths, Often Caused by Genetic Disease

Novel Newborn Screening System Uses Rapid Whole Genome Sequencing and Acute Management Guidance to Screen and Diagnosis Genetic Diseases

Study Finds Association of Genetic Disease and Infant Mortality Higher than Previously Recognized: 41% of Infant Deaths Associated with Genetic Diseases

Genome Sequencing Could Prevent Infant Deaths

A Genome Sequencing System for Universal Newborn Screening, Diagnosis, and Precision Medicine for Severe Genetic Diseases

Genetic Testing in the PICU Prompts Meaningful Changes in Care

Major Policy Event in United Kingdom Aligns National Genetic Screening Program Using Rapid Whole Genome Sequencing

World-First National Genetic Testing Service to Deliver Rapid Life-Saving Checks for Babies and Kids

Genome Sequencing Trial to Test Benefits of Identifying Genetic Diseases at Birth

New NHS Genetic Testing Service ‘Could Save Thousands of Children’ in England

NHS England Completes Move Towards Rapid Whole Genome Sequencing of All Critically Ill Infants

Whole Genome Sequencing for Children: An Information Guide for Parents, Carers, and Families

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