The NHS mapped the genetic code of 100,000 babies to rapidly diagnose 200 rare genetic diseases and improve cure rates

Every year, thousands of children in the UK are affected by a rare genetic disease, but families with sick children often endure years of testing costs and disease uncertainty before they are diagnosed.

It can detect 200 rare genetic diseases

Paving the way for newborn screening

In the near future, 100,000 newborns will be sequenced in the UK, and the research programme, which is expected to cost £105 million, could pave the way for comprehensive newborn screening to detect rare genetic conditions. This will be the first time the NHS (National Health Service) has offered whole genome sequencing services to healthy babies. The Newborn Genome Project will screen for about 200 diseases, all of which are treatable. The project, which will begin next year, is led by Genomics England in partnership with the NHS. If the program is successful, it can be rolled out nationwide.

Genomics England was set up and owned by the UK's Department of Health and Social Care, and a 2019 review identified the 100,000 Genomes Project as a model for engaging the public in genomic research. In addition to the implementation of the 100,000 Genomes Project, Genomics England will also mark the beginning of the UK genomics industry and the beginning of personalised healthcare for the NHS. The goal of the new program is to read all the DNA carried by a representative sample shortly after the baby is born.

Whole genome sequencing will read all 3 billion "letters" of a baby's genetic code, expanding the number of treatable diseases that are expected to be detected to about 200, many of which are extremely rare. "If this approach were adopted across the UK, it is expected that around 3,000 children born in the UK could be helped each year," said Rich Scott, chief medical officer at Genomics England. Of these 100,000 infants, the number that requires further in-depth testing could be between 1,500 and 2,000.

Genetic variants have been shown to cause serious childhood diseases that could benefit from early detection and treatment. Without genomic analysis, this typically takes four to five years. Genomic sequencing will greatly improve the efficiency of diagnosing these genetic diseases.

Although the Newborn Genome Project was designed in consultation with medical ethicists, some geneticists are skeptical that the NHS has the resources to undertake extensive genomic screening on top of its existing work. "Using whole genome sequencing to screen newborns is a step into the unknown," says Frances Flinter, a clinical geneticist at Guy's and St Thomas' NHS Foundation Trust. "We must not race to use this technology until both science and ethics are ready."

Newborns acquire genetic diseases quickly

Diagnose success stories

At least 7,000 single-gene diseases occur in early childhood. Every year, thousands of children in the UK are affected by a rare genetic disease, but families often endure years of testing and uncertainty before being diagnosed. Whole genome sequencing can speed up this process, early diagnosis, early detection, and early treatment.

The Newborn Genome Project will provide testing at birth for healthy babies. It can take months or even years for children to show symptoms of certain conditions, by which time avoidable harm may have been done.

Owen, 9, suffers from an extremely rare genetic disorder that affects his growth and development. This condition is congenital hypothyroidism associated with THRA, and it is one of the diseases that will be included in the new genetic tests.

Owen's parents, Sarah and Rob Everett, noticed something was wrong on their son's first birthday, as Owen could neither climb nor sit up. But the parents' concerns were repeatedly dismissed by doctors until Irving was four and a half years old. Rob Everett said: "I think of the time we spent in the hospital waiting room, being referred to different departments, and some of those tests were very harmful to the body, and each time the results were not conclusive. I can't remember how many doctors and consultants we went to and how many tests Owen did. ”

This diagnostic process usually lasts for years, which is a common and painful experience for many families of children with rare genetic diseases. Eventually, the NHS sequenced Owen's entire genome to determine his condition. He is the 6th person in the UK and 30th in the world to be diagnosed with the genetic disorder – a mutation in the THRA gene for congenital hypothyroidism, which is not inherited but due to a spontaneous mutation in his DNA.

Mother Sarah Everett said Owen's diagnosis changed the family's life: "It was like winning the lottery! Because we know a definite treatment pathway; The son can get more support, can go to school after treatment, and have a normal childhood. Sarah says taking medication every day has "completely changed" Irving's life: "He didn't have the strength to walk or talk before, and he fell asleep in the middle of the day. Now with so much energy, I can't even keep up with him! ”

Sarah said that once the project starts next year, she will strongly encourage parents of newborns to undergo whole genome sequencing: "It will change the face of medicine, being able to treat all these unknown diseases, or at least basic science for parents of children." ”

Genomics England expects the programme to identify hundreds of children with genetic conditions who might otherwise be missed by current newborn screenings. Rob says that if Irving's genome had been sequenced at birth, the situation would have been very different: "It would take a lot of stress and uncertainty away because doctors haven't diagnosed any conditions and where the future is going for years, and can Irving still walk or talk?" Or whether his situation will get worse. ”

In addition to genetic diseases,

It can also identify defective genes and cancer risk

Currently, babies undergo a "heel blood test" four or five days after birth. Biochemical analysis of these tiny blood samples can detect nine potentially serious diseases so that treatment can be started as soon as possible. Nine rare conditions, including cystic fibrosis and sickle cell disease. Dr Rich Scott, Chief Medical Officer at Genomics England, said: "Our aim is to do more for the thousands of children born in the UK each year with treatable genetic conditions. It is hoped that services that provide rapid diagnosis, faster access to treatment, and improved quality of life for families with genetic diseases. ”

Whole genome sequencing can also identify diseases that occur later in life, such as certain cancers. About 1 in 400 people inherit the defective BRCA1 or BRCA2 gene, which increases the risk of breast, ovarian, prostate and pancreatic cancer.

Although whole genome sequencing can identify such mutations, they will not be the focus of the Newborn Genome Project. Instead, the data will be anonymized and stored until the participants reach adulthood and they can decide whether they want to continue participating in the study. Access to genetic data in later life can improve the treatment of certain diseases and avoid harmful drug interactions.