NHS England completes transition to rapid whole genome sequencing of all critically ill infants

NHS England completes transition to rapid whole genome sequencing of all critically ill infants

Precision medicine has the potential to transform healthcare. From the year 2000, when President Clinton and Prime Minister Blair announced the completion of the Human Genome Project, to today, precision medicine has advanced to the point where it is an integral part of the clinical development of medications. Equally important is the use of genetic information to diagnose disease and tailor treatment. Whole genome sequencing – the process of determining and mapping a person’s complete DNA code all at once – is increasingly becoming an integral part of personalizing medicine.

The UK is already home to several of the largest biobanks in the world, containing complete complete genomes. The National Health Service (NHS) in England is dramatically scaling up rapid whole genome sequencing as part of a population-wide effort. In an ambitious program, from 2023, everything critically 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 put in place over recent years in close collaboration with leading hospitals and teaching medical centres.

Almost four years ago, in January 2019, every child with cancer in England was offered whole genome sequencing. And in June 2019, the NHS set up a program in which any baby or child in England admitted to intensive care with an unexplained condition became eligible – along with their parents – for whole genome sequencing. It turns out that one in four children in intensive care suffers from a serious genetic disease.

The existing NHS Genomic Medicine Service, based in Exeter, is overseeing the pilots and will oversee the latest nationwide initiative.

It is hoped that by sequencing the genomes of up to 100,000 newborns to aid in the detection of genetic diseases. The initiative, dubbed the “Newborn Genomes Program,” will analyze DNA from about 200 conditions. Specifically, clinical researchers will look for “actionable” genetic conditions, that is, those for which there are treatments.

Currently, when doctors suspect a genetic condition, tests often take weeks to complete because they must be done in sequential order. This can of course delay the treatment.

Under the new scheme, very sick babies and children will be diagnosed and treated faster than they would otherwise, thanks to this ‘groundbreaking’ genetic testing service launched by NHS England. Clinician scientists, geneticists, and bioinformaticians will perform much faster processing of DNA samples, saliva, and other tissues, as well as blood.

The babies’ genomes will also be anonymized and added to the UK’s National Genome Research Library, where the data can be extracted and analyzed by researchers and healthcare companies, with the aim 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 pioneered in the early 1960s – involving a small prick on an infant’s heel – is used to determine the presence of PKU and other diseases such as cystic fibrosis or sickle cell disease, to which early detection and treatment can prevent severe disability and death.

The NHS England program will not come cheap. Although the cost of running whole genome sequencing tests is now relatively inexpensive, the whole process itself is not. Data must be analyzed and interpreted, and patients may require interventions based on the findings, alongside in-depth genetic counseling to guide caregivers.

NHS England chief executive Amanda Pritchard has said her new service will be the first in the world to cover an entire country. Additionally, she claims the service could save the lives of “thousands of critically ill children over time” and will usher in “a new era of genomic medicine.”

In the United States, five states currently provide full coverage of rapid whole genome sequencing testing for critically ill infants. In a growing number of other states, discussions are underway with public (Medicaid) and commercial payers regarding the expansion of genetic testing services offered.

Making screening for rare genetic diseases systematic across England for critically ill infants is a major step towards achieving a key goal of precision medicine. Undoubtedly, other countries will observe how the retrieved genomic data can be optimally integrated into clinical practice.

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