News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

Sign In

Every UK Newborn to Have DNA Fully Sequenced from Umbilical Cord Blood

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.

—JP Schlingman

;