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University of Edinburgh Scientists Associate Increased Cancer Rates to Descendants from Multiple Scottish Islands

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.

The researchers published their findings titled, “Two Founder Variants Account for Over 90% of Pathogenic BRCA Alleles in the Orkney and Shetland Isles in Scotland,” in the European Journal of Human Genetics.

“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.

—Ashley Croce

Related Information:

Cancer Gene Linked to Scottish Island

Cancer Risk Gene Variant Discovered in Orkney

BRCA Gene Changes: Cancer Risk and Genetic Testing

Two Founder Variants Account for Over 90% of Pathogenic BBRCA Alleles in the Orkney and Shetland Isles in Scotland

Faulty Cancer Gene Traced Back to Shetland Island

NHS Launches National BRCA Gene Testing Program to Identify Cancer Risk Early

Scathing Report from Former Health Minister Finds England’s NHS Plagued by Long Wait Times, Crumbling Infrastructure

Declining health of UK’s population also affecting performance of the country’s national health service, report notes

England’s National Health Service (NHS) is “in serious trouble” due to long waiting times, outdated technology, misallocated resources, and numerous other problems, with dire consequences for the country’s populace. That’s according to a new report by NHS surgeon and former Health Minister Lord Ara Darzi, OM KBE FRS FMedSci HonFREng, who was tasked by the United Kingdom’s new Labor government to investigate the ailing healthcare system. His report may contain lessons for US healthcare—including clinical laboratories—as well.

“Although I have worked in the NHS for more than 30 years, I have been shocked by what I have found during this investigation—not just in the health service but in the state of the nation’s health,” Darzi stated in a UK government press release. “We want to deliver high quality care for all but far too many people are waiting for too long and in too many clinical areas, quality of care has gone backwards.”

Many of the problems he identified relate to wait times.

“From access to GPs (general practitioners) and to community and mental health services, on to accident and emergency, and then to waits not just for more routine surgery and treatment but for cancer and cardiac services, waiting time targets are being missed,” he wrote in his report.

For example, “as of June 2024, more than one million people were waiting for community services, including more than 50,000 people who had been waiting for over a year, 80% of whom are children and young people,” he wrote.

Accident and emergency care (A/E) “is in an awful state,” the report noted, “with A/E queues more than doubling from an average of just under 40 people on a typical evening in April 2009 to over 100 in April 2024. One in 10 patients are now waiting for 12 hours or more.”

“In the last 15 years, the NHS was hit by three shocks—austerity and starvation of investment, confusion caused by top-down reorganization, and then the pandemic which came with resilience at an all-time low. Two out of three of those shocks were choices made in Westminster,” said NHS surgeon and former Health Minister Lord Ara Darzi in a government press release. “It took more than a decade for the NHS to fall into disrepair so it’s going to take time to fix it. But we in the NHS have turned things around before, and I’m confident we will do it again.” (Photo copyright: Health Data Research UK.)

Delays in Other Critical Tests

Genetic test results are lagging as well. “In 2024, more than 35,000 genomic tests are being completed each month but only around 60% on time,” Darzi wrote.

He also noted that “only around 5% of eligible patients with brain cancer are able to access whole genome sequencing (WGS), which is important for treatment selection.” Just two-thirds (65.8%) get their first treatment within 62 days, and more than 30% wait more than 31 days for radical radiotherapy, according to the report.

Overall, “the UK has appreciably higher cancer mortality rates than other countries, with no progress whatsoever made in diagnosing cancer at stage one and two between 2013 and 2021,” he wrote.

Patients have also experienced delays in access to cardiovascular treatment. For example, in 2013-2014, high-risk heart attack patients waited an average of 114 minutes for intervention to unblock an artery, Darzi noted in his report. However, in 2022-2023, the average time was 146 minutes, a 28% increase.

“For the most part, once people are in the system, they receive high quality care,” he wrote. “But there are some important areas of concerns, such as maternity care, where there have been a succession of scandals and inquiries.”

Key Factors Leading to Delays

Darzi pointed to four key factors that have led to the problems.

Lack of funding. “The 2010s was the most austere decade since the NHS was founded, with spending growing at around 1% in real terms,” Darzi wrote, compared with a long-term average of 3.4%.

One result was that administrators took funds from the capital budget to cover day-to-day needs, leading to “crumbling buildings that hit productivity,” he noted.

“The backlog maintenance bill now stands at more than £11.6 billion and a lack of capital means that there are too many outdated scanners, too little automation, and parts of the NHS are yet to enter the digital era,” he wrote.

The COVID-19 pandemic. Given the preceding “decade of austerity,” NHS had fewer resources to deal with the crisis than most other high-income health systems, he wrote. As a result, NHS “delayed, cancelled, or postponed far more routine care during the pandemic than any comparable health system.” This led to “a bigger backlog than other health systems.”

Lack of patient and staff engagement. Patient satisfaction “has declined and the number of complaints has increased, while patients are less empowered to make choices about their care,” he wrote. In addition, “too many staff have become disengaged, and there are distressingly high-levels of sickness absence—as much as one working month a year for each nurse and each midwife working in the NHS.”

Management structures and systems. Darzi laid considerable blame on the UK’s Health and Social Care Act of 2012, which led to what he described as “a costly and distracting process of almost constant reorganization of the ‘headquarters’ and ‘regulatory’ functions of the NHS.”

One consequence, he wrote, is that too many clinicians have been deployed in hospitals instead of community-based care, despite years of promises by successive governments to put more emphasis on the latter.

National Health in Decline

Along with issues within the NHS, “the health of the nation has deteriorated and that impacts its performance,” Darzi wrote. “There has been a surge in multiple long-term conditions, and, particularly among children and young people, in mental health needs. Fewer children are getting the immunizations they need to protect their health, and fewer adults are participating in some of the key screening programs, such as for breast cancer.”

Darzi’s investigation included frontline visits to NHS facilities as well as focus groups with NHS staff and patients, the press release states. He also consulted an expert reference group consisting of more than 70 organizations and examined analyses from NHS England, the UK’s Department of Health and Social Care, and external groups.

It is interesting that there is no mention of anatomic pathology and medical laboratory testing services in Lord Darzi’s report. As reported in recent years by new outlets in the United Kingdom, delays in cancer diagnoses—often as long as six months—were severe enough that, in 2018, the NHS announced funding for a program to create a national digital pathology network to improve productivity of pathologists and shorten wait times for the results of cancer tests.

—Stephen Beale

Related Information:

The NHS Is in ‘Serious Trouble’ and Needs Major Reform – Here Are the Pitfalls the Government Must Avoid

‘Major Surgery, Not Sticking Plaster Solutions’ Needed to Rebuild NHS

Independent Investigation of the National Health Service in England

No Extra NHS Funding without Reform, Says PM

No More Money for NHS Without Reform, Says Starmer As He Outlines Vision for Health Service

Long NHS Delays in England Leading to Thousands of Unnecessary Deaths, Inquiry Finds

NHS Is Broken but No Extra Funding without Reform, Starmer Says

The Left Must Accept NHS Reform or It Will Die, Says Streeting

Welsh and UK Government to Co-Operate on NHS Reform

Keir Starmer Says UK’s NHS Needs to ‘Reform or Die’

Welsh NHS Needs Reform, Keir Starmer Says

UK Study Claims AI Reading of CT Scans Almost Twice as Accurate at Grading Some Cancers as Clinical Laboratory Testing of Sarcoma Biopsies

Radiological method using AI algorithms to detect, locate, and identify cancer could negate the need for invasive, painful clinical laboratory testing of tissue biopsies

Clinical laboratory testing of cancer biopsies has been the standard in oncology diagnosis for decades. But a recent study by the Institute of Cancer Research (ICR) and the Royal Marsden NHS Foundation Trust in the UK has found that, for some types of sarcomas (malignant tumors), artificial intelligence (AI) can grade the aggressiveness of tumors nearly twice as accurately as lab tests, according to an ICR news release.

This will be of interest to histopathologists and radiologist technologists who are working to develop AI deep learning algorithms to read computed tomography scans (CT scans) to speed diagnosis and treatment of cancer patients.

“Researchers used the CT scans of 170 patients treated at The Royal Marsden with the two most common forms of retroperitoneal sarcoma (RPS)—leiomyosarcoma and liposarcoma—to create an AI algorithm, which was then tested on nearly 90 patients from centers across Europe and the US,” the news release notes.

The researchers then “used a technique called radiomics to analyze the CT scan data, which can extract information about the patient’s disease from medical images, including data which can’t be distinguished by the human eye,” the new release states.

The scientists published their findings in The Lancet Oncology titled, “A CT-based Radiomics Classification Model for the Prediction of Histological Type and Tumor Grade in Retroperitoneal Sarcoma (RADSARC-R): A Retrospective Multicohort Analysis.”

The research team sought to make improvements with this type of cancer because these tumors have “a poor prognosis, upfront characterization of the tumor is difficult, and under-grading is common,” they wrote. The fact that AI reading of CT scans is a non-invasive procedure is major benefit, they added.

Christina Messiou, MD

“This is the largest and most robust study to date that has successfully developed and tested an AI model aimed at improving the diagnosis and grading of retroperitoneal sarcoma using data from CT scans,” said the study’s lead oncology radiologist Christina Messiou, MD, (above), Consultant Radiologist at The Royal Marsden NHS Foundation Trust and Professor in Imaging for Personalized Oncology at The Institute of Cancer Research, London, in a news release. Invasive medical laboratory testing of cancer biopsies may eventually become a thing of the past if this research becomes clinically available for oncology diagnosis. (Photo copyright: The Royal Marsden.)

Study Details

RPS is a relatively difficult cancer to spot, let alone diagnose. It is a rare form of soft-tissue cancer “with approximately 8,600 new cases diagnosed annually in the United States—less than 1% of all newly diagnosed malignancies,” according to Brigham and Women’s Hospital.

In their published study, the UK researchers noted that, “Although more than 50 soft tissue sarcoma radiomics studies have been completed, few include retroperitoneal sarcomas, and the majority use single-center datasets without independent validation. The limited interpretation of the quantitative radiological phenotype in retroperitoneal sarcomas and its association with tumor biology is a missed opportunity.”

According to the ICR news release, “The [AI] model accurately graded the risk—or how aggressive a tumor is likely to be—[in] 82% of the tumors analyzed, while only 44% were correctly graded using a biopsy.”

Additionally, “The [AI] model also accurately predicted the disease type [in] 84% of the sarcomas tested—meaning it can effectively differentiate between leiomyosarcoma and liposarcoma—compared with radiologists who were not able to diagnose 35% of the cases,” the news release states.

“There is an urgent need to improve the diagnosis and treatment of patients with retroperitoneal sarcoma, who currently have poor outcomes,” said the study’s first author Amani Arthur, PhD, Clinical Research Fellow at The Institute of Cancer Research, London, and Registrar at The Royal Marsden NHS Foundation Trust, in the ICR news release.

“The disease is very rare—clinicians may only see one or two cases in their career—which means diagnosis can be slow. This type of sarcoma is also difficult to treat as it can grow to large sizes and, due to the tumor’s location in the abdomen, involve complex surgery,” she continued. “Through this early research, we’ve developed an innovative AI tool using imaging data that could help us more accurately and quickly identify the type and grade of retroperitoneal sarcomas than current methods. This could improve patient outcomes by helping to speed up diagnosis of the disease, and better tailor treatment by reliably identifying the risk of each patient’s disease.

“In the next phase of the study, we will test this model in clinic on patients with potential retroperitoneal sarcomas to see if it can accurately characterize their disease and measure the performance of the technology over time,” Arthur added.

Importance of Study Findings

Speed of detection is key to successful cancer diagnoses, noted Richard Davidson, Chief Executive of Sarcoma UK, a bone and soft tissue cancer charity.

“People are more likely to survive sarcoma if their cancer is diagnosed early—when treatments can be effective and before the sarcoma has spread to other parts of the body. One in six people with sarcoma cancer wait more than a year to receive an accurate diagnosis, so any research that helps patients receive better treatment, care, information and support is welcome,” he told The Guardian.

According to the World Health Organization, cancer kills about 10 million people worldwide every year. Acquisition and medical laboratory testing of tissue biopsies is both painful to patients and time consuming. Thus, a non-invasive method of diagnosing deadly cancers quickly, accurately, and early would be a boon to oncology practices worldwide and could save thousands of lives each year.

—Kristin Althea O’Connor

Related Information:

AI Twice as Accurate as a Biopsy at Grading Aggressiveness of Some Sarcomas

AI Better than Biopsy at Assessing Some Cancers, Study Finds

AI Better than Biopsies for Grading Rare Cancer, New Research Suggests

A CT-based Radiomics Classification Model for the Prediction of Histological Type and Tumor Grade in Retroperitoneal Sarcoma (RADSARC-R): A Retrospective Multicohort Analysis

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

Genomics England Increases Goal of Whole Genome Sequencing Project from 100,000 to 500,000 Sequences in Five Years

Genomic sequencing continues to benefit patients through precision medicine clinical laboratory treatments and pharmacogenomic therapies

EDITOR’S UPDATE—Jan. 26, 2022: Since publication of this news briefing, officials from Genomics England contacted us to explain the following:

  • The “five million genome sequences” was an aspirational goal mentioned by then Secretary of State for Health and Social Care Matt Hancock, MP, in an October 2, 2018, press release issued by Genomics England.
  • As of this date a spokesman for Genomics England confirmed to Dark Daily that, with the initial goal of 100,000 genomes now attained, the immediate goal is to sequence 500,000 genomes.
  • This goal was confirmed in a tweet posted by Chris Wigley, CEO at Genomics England.

In accordance with this updated input, we have revised the original headline and information in this news briefing that follows.

What better proof of progress in whole human genome screening than the announcement that the United Kingdom’s 100,000 Genome Project has not only achieved that milestone, but will now increase the goal to 500,000 whole human genomes? This should be welcome news to clinical laboratory managers, as it means their labs will be positioned as the first-line provider of genetic data in support of clinical care.

Many clinical pathologists here in the United States are aware of the 100,000 Genome Project, established by the National Health Service (NHS) in England (UK) in 2012. Genomics England’s new goal to sequence 500,000 whole human genomes is to pioneer a “lasting legacy for patients by introducing genomic sequencing into the wider healthcare system,” according to Technology Networks.

The importance of personalized medicine and of the power of precise, accurate diagnoses cannot be understated. This announcement by Genomics England will be of interest to diagnosticians worldwide, especially doctors who diagnose and treat patients with chronic and life-threatening diseases.

Building a Vast Genomics Infrastructure

Genetic sequencing launched the era of precision medicine in healthcare. Through genomics, drug therapies and personalized treatments were developed that improved outcomes for all patients, especially those suffering with cancer and other chronic diseases. And so far, the role of genomics in healthcare has only been expanding, as Dark Daily covered in numerous ebriefings.

In the US, the National Institute of Health’s (NIH’s) Human Genome Project sequenced the first whole genome in 2003. That achievement opened the door to a new era of precision medicine.

Genomics England, which is wholly owned by the Department of Health and Social Care in the United Kingdom, was formed in 2012 with the goal of sequencing 100,000 whole genomes of patients enrolled in the UK National Health Service. That goal was met in 2018, and now the NHS aspires to sequence 500,000 genomes.

Richard Scott, MD, PhD

“The last 10 years have been really exciting, as we have seen genetic data transition from being something that is useful in a small number of contexts with highly targeted tests, towards being a central part of mainstream healthcare settings,” Richard Scott, MD, PhD (above), Chief Medical Officer at Genomics England told Technology Networks. Much of the progress has found its way into clinical laboratory testing and precision medicine diagnostics. (Photo copyright: Genomics England.)

Genomics England’s initial goals included:

  • To create an ethical program based on consent,
  • To set up a genomic medicine service within the NHS to benefit patients,
  • To make new discoveries and gain insights into the use of genomics, and
  • To begin the development of a UK genomics industry.

To gain the greatest benefit from whole genome sequencing (WGS), a substantial amount of data infrastructure must exist. “The amount of data generated by WGS is quite large and you really need a system that can process the data well to achieve that vision,” said Richard Scott, MD, PhD, Chief Medical Officer at Genomics England.

In early 2020, Weka, developer of the WekaFS, a fully parallel and distributed file system, announced that it would be working with Genomics England on managing the enormous amount of genomic data. When Genomics England reached 100,000 sequenced genomes, it had already gathered 21 petabytes of data. The organization expects to have 140 petabytes by 2023, notes a Weka case study.

Putting Genomics England’s WGS Project into Action

WGS has significantly impacted the diagnosis of rare diseases. For example, Genomics England has contributed to projects that look at tuberculosis genomes to understand why the disease is sometimes resistant to certain medications. Genomic sequencing also played an enormous role in fighting the COVID-19 pandemic.

Scott notes that COVID-19 provides an example of how sequencing can be used to deliver care. “We can see genomic influences on the risk of needing critical care in COVID-19 patients and in how their immune system is behaving. Looking at this data alongside other omics information, such as the expression of different protein levels, helps us to understand the disease process better,” he said.

What’s Next for Genomics Sequencing?

As the research continues and scientists begin to better understand the information revealed by sequencing, other areas of scientific study like proteomics and metabolomics are becoming more important.

“There is real potential for using multiple strands of data alongside each other, both for discovery—helping us to understand new things about diseases and how [they] affect the body—but also in terms of live healthcare,” Scott said.

Along with expanding the target of Genomics England to 500,000 genomes sequenced, the UK has published a National Genomic Strategy named Genome UK. This plan describes how the research into genomics will be used to benefit patients. “Our vision is to create the most advanced genomic healthcare ecosystem in the world, where government, the NHS, research and technology communities work together to embed the latest advances in patient care,” according to the Genome UK website.

Clinical laboratories professionals with an understanding of diagnostics will recognize WGS’ impact on the healthcare industry. By following genomic sequencing initiatives, such as those coming from Genomics England, pathologists can keep their labs ready to take advantage of new discoveries and insights that will improve outcomes for patients.

Dava Stewart

Related Information:

The 100,000 Genomes Project

Genome Sequencing in Modern Medicine: An Interview with Genomics England

WekaIO Accelerates Five Million Genomes Project at Genomics England

Genomics England Improved Scale and Performance for On-Premises Cluster

Whole Genome Sequencing Increases Rare Disorder Diagnosis by 31%

Genome UK: The Future of Healthcare

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