The DNA of 100,000 newborns is to be completely decoded

Spread the love


A million new-born babies in the UK will have their genomes sequenced in a £105 million research project that will pave the way for a full-scale newborn screening program to detect rare genetic conditions.

Genomics England, a government-owned company, aims to study all the DNA carried by a representative national sample of children shortly after birth. A two-year program in collaboration with NHSStarting late next year.

“Developing this evidence will allow policy makers to make well-informed decisions about how to make whole-genome sequencing part of the newborn screening program in the future,” said Richard Scott, Genomics UK’s Chief Medical Officer.

Currently the “heel prick test” is done when babies are four or five days old. Biochemical analysis of these small blood samples can detect nine serious conditions and start treatment sooner.

Full Gene Sequencing – reading all 3bn “letters” of a child’s genetic code – is expected to extend the number of treatable conditions to around 200, many of which are extremely rare.

“We estimate there are around 3,000 babies born a year in the UK who could be helped by this approach if adopted nationally,” said Scott. The number of tests requiring further investigation is 1,500 to 2,000 per 100,000 children.

“The genetic variants we select for are well established as causing serious childhood conditions that benefit from early detection and treatment,” said David Pick, principal physician of the Newborn Genetics Program.

One of the aims is to end the agonizing “diagnostic odyssey” endured by thousands of parents when their young children develop a mentally or physically debilitating disorder of unknown cause. Without genetic analysis it usually takes four to five years, Scott said.

NHS trusts across England will select participants to be as representative of the population as possible, with an emphasis on achieving racial diversity, which is often lacking in clinical research programmes, Bigg added. Scotland, Wales and Northern Ireland may join later.

Selected parents will be approached about potential participation mid-pregnancy, so they are willing to undergo standard heel prick testing for their baby. The benefits and risks will be explained, including the broader implications of storing a child’s genome for life.

Genomics UK Project One in eight Newborn sequencing studies are planned worldwide, but most others are small.

In its previous 100,000 Genomes project, which focused on patients with cancer and rare diseases, Genomics UK used equipment from US-based Illumina to study the DNA of volunteers. The sequencing technology to be used for the Newborn Genomes project has yet to be decided, Scott said.

Although the Newborn Genomes project was designed in consultation with medical ethicists, many geneticists expressed doubts that the NHS had the resources to carry out comprehensive genetic screening on top of its existing work.

“Using whole genome sequencing to screen newborns is an unknown step,” said Frances Flinder, a clinical geneticist at Guy’s and St Thomas’ NHS Foundation Trust. “We should not race to use this technology before both the science and ethics are ready.”


Source link

Leave a Comment