First newborn to participate in testing for over 200 rare diseases

The entire genetic information of up to 100,000 babies in the UK will be analyzed by the NHS in a bid to speed up diagnosis and treatment of more than 200 rare diseases.

Currently, newborns are given a heel prick blood test to check for nine serious diseases, including cystic fibrosis.

As part of the new study, led by Genomics England, blood samples will be taken from infants' umbilical cords to help diagnose further genetic conditions, including haemophilia and spinal muscular atrophy.

Hundreds of blood samples have already been taken from babies born in 13 hospitals in the UK. Eventually, about 40 hospitals will offer the test.

There are approximately 7,000 single-gene diseases, but this program searches only for diseases that have effective treatments and that begin in early childhood.

In some cases, some diseases can be cured if detected early.

Screening newborns for these rare diseases requires sequencing the newborn's complete DNA (or genome) using a blood sample from the umbilical cord.

Birmingham Women's Hospital already offers the screening test, but Dominika Nanus, 38, said she was “deterred” to take part in the study after seeing it advertised on a poster during her antenatal visit. There wasn't,” he told me.

She said her daughter Emilia, who was born the day before, “will not only directly benefit but also contribute to wider research”.

Even before she named her two-day-old son, now named Hugo, Gemma Jordan, 40, had no hesitation in having her son tested because she knew there was a “health problem''. “I want to know from the offset if there is one,” he told me. And because it will help our future children.

Dr Ellen Thomas, NHS England's chief medical officer, said the 200 conditions investigated in the study caused “significant health problems in early childhood”.

“Therapies and interventions that are available to every child can have a dramatic impact on that child,” she added.

Currently, genetic diseases can take years to be diagnosed and are often discovered only after a child becomes seriously ill.

Lucy White's son Joshua, 9, has a rare genetic disorder called juvenile metachromatic leukodystrophy (MLD), which is part of a new screening test.

Joshua was apparently healthy at birth, but his motor skills began to deteriorate around the age of 4, and over the past two years he has been unable to walk or talk.

Lucy, from Surrey, said it took more than two years, including hospital appointments, specialist visits and scans, before she was diagnosed.

Had Joshua's condition been known at birth, he may have been eligible for a clinical trial for treatment. Currently available on the NHS You can stop the damage caused by MLD.

Lucy has given up her job because Joshua requires 24-hour care and tube feeding. She said he may only have 10 years left to live because the genetic condition is progressive.

She urged parents to sign up for screening tests.

“Don't hesitate. If you can save a child's life, that's more important than anything in this world,” she said.

When the children selected to participate in the study turn 16, they will be asked if they would like to continue the research program, which will involve analyzing other parts of their DNA for diseases they may develop in adulthood. There is a possibility that

This may include certain cancers, heart disease, and dementia.

However, it may also raise ethical questions about what health information is appropriate to share with individuals about future health risks.

Genomics England said the focus of the study was on treatable conditions that occur in early childhood, and that it was still to be determined how whole-genome sequencing would be used in the future.

Dr Rich Scott, chief executive of Genomics England, called the study a “pivotal moment”.

He said he plans to gather evidence to decide whether newborn genomic testing should be offered to all children.

Amanda Pritchard, chief executive of NHS England, said diagnosing rare diseases in newborns through genomic testing would “give thousands of children the opportunity to receive the right treatment at the right time and make it possible to “They have the potential to get the best start in life possible.”