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

Precision medicine holds the potential to transform healthcare. From the year 2000, when President Clinton and Prime Minister Blair announced completion of the Human Genome Project, to the present, precision medicine has advanced to the point where it’s integral to clinical drug development. Equally important is the use of genetic information to diagnose disease and tailor treatment. Whole genomic sequencing – the process of determining and mapping a person’s entire DNA code at a single time – is increasingly becoming part and parcel of enabling the personalization of medicine.

The U.K. is already home to several of the world’s largest biobanks, containing completed whole genomes. The National Health Service (NHS) in England is substantially scaling up rapid whole genome sequencing in a population-wide effort. In an ambitious program, beginning in 2023, all seriously ill children in England with an unexplained disorder will be eligible for genome analysis.

This follows a series of pilot programs that England’s National Health Service (NHS) has instituted in recent years in close collaboration with leading hospitals and university medical centers.

Almost four years ago, in January 2019, all children with cancer in England were offered whole genome sequencing. And in June 2019, the NHS implemented a program in which any baby or child in England admitted to intensive care with an unexplained condition became eligible – together with their parents – for whole genome sequencing. It turns out that one in four children in intensive care has a serious genetic disorder.

NHS’s existing Genomic Medicine Service, based in Exeter, oversees the pilot projects and will have oversight with respect to the latest country-wide initiative.

It is hoped that by sequencing the genomes of up to 100,000 newborns to facilitate detection of genetic illnesses. The initiative, dubbed the “Newborn Genomes Programme,” will scan DNA for approximately 200 conditions. Specifically, clinical researchers will look for “actionable” genetic conditions, which means those for which there are existing treatments.

Currently, when doctors suspect a genetic disorder, tests often take weeks to be completed as they must be done in a sequential order. This of course can delay treatment.

Under the new program, very sick babies and children will be diagnosed and treated faster than they otherwise would, owing to this “revolutionary” genetic testing service launched by the NHS England. Clinical scientists, geneticists, and bioinformaticians will carry out much speedier processing of DNA samples, from saliva and other tissues, as well as blood.

The babies’ genomes will also be de-identified and added to Britain’s National Genomic Research Library, where the data can be mined and analyzed by researchers and healthcare companies, with the goal of developing new treatments and diagnostics.

Newborns are already screened for certain diseases at birth; for example, for the inherited disorder phenylketonuria, or PKU. A simple blood test developed and launched in the early 1960s – involving a tiny prick on the heel of an infant – is used to determine the presence of PKU and other diseases such as cystic fibrosis or sickle cell anemia, for which early detection and treatment can prevent serious disability and death.

The NHS England program won’t come cheap. Though the cost of running whole genome sequencing tests is now relatively inexpensive, the entire process itself is not. The data must be analyzed and interpreted, and patients may require interventions based on the results, alongside extensive genetic counseling to guide caregivers.

NHS England’s chief executive, Amanda Pritchard, says that its new service will be the first in the world to cover an entire country. Further, she asserts that the service could save the lives of “thousands of seriously ill children over time” and will usher in “a new era of genomic medicine.”

In the U.S., currently five states offer comprehensive coverage of rapid whole genomic sequencing screening for critically ill infants. In a growing number of other states, discussions are underway with payers in the public (Medicaid) and commercial sectors regarding expansion of genetic testing services offered.

Making screening for rare genetic diseases routine across England for critically ill infants represents a major step towards realizing a key objective of precision medicine. Undoubtedly, other countries will be watching to see how the retrieved genomic data can optimally be incorporated into clinical practice.