Newborn screening for 200 rare genetic conditions begins

Hundreds of newborn babies will be tested for rare genetic conditions as part of a new study launched by Genomics England in partnership with NHS England.

Over 1,000 participants have consented to join the Generation Study, which will see newborn babies offered whole genome sequencing using blood samples which are usually taken from their umbilical cord shortly after birth.

The study will identify over 200 conditions such as Metachromatic leukodystrophy (MLD) in babies sooner and could enable hundreds to benefit from earlier diagnosis and treatment that could help slow the progression of rare conditions and even extend their lives. It aims to investigate the feasibility and acceptability of using whole genome sequencing to screen newborns for rare conditions where early treatment is available.

Dr Rich Scott, Chief Executive Officer at Genomics England, said: “The launch of the Generation Study is a pivotal moment as we look to develop evidence on whether genomic newborn screening should be offered to all children – to do more for the thousands of children born every year in the UK with a treatable genetic condition.

“Children with these conditions often go years without receiving a diagnosis. Cutting this time would mean earlier access to what can be life-changing treatment. The Generation Study also shows the impact of our partnership with the NHS – meaning that the UK is uniquely placed to test, and – where proven – roll out genomic innovations to improve health and help us move healthcare increasingly to preventing illness.”

Genetic information can help diagnose and treat children later in life

Following consultation, the study is only analysing the genomes for the 200 plus selected conditions that can be treated in the NHS in early childhood. It has been developed following extensive consultation with the public, parents and families affected by rare conditions as well as healthcare professionals, policy makers and scientists. This engagement will continue over the course of the study.

If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis, and ongoing support and treatment from the NHS.

The Generation Study will also support broader healthcare research to improve testing and discover more treatments. Additionally, it will consult a range of groups including families, participants and the wider public on exploring the possible risks and benefits of storing an individual’s genome over their lifetime and using it to help predict, diagnose and treat future illnesses. For example, if a child who has had their genome sequenced falls sick when they are older, there may be an opportunity to use their stored genetic information to help diagnose and treat them.

Wes Streeting, Health and Social Care Secretary added: “To fix our broken NHS, we need to ensure the future of healthcare is more predictive, more preventative and more personalised. This kind of advance in genomics will help us achieve just that – ensuring families across the country have access to the right support and treatment for their loved ones.

“Too many parents are waiting too long for crucial answers on diagnosis, and I am determined that we use innovation to turn that around.”

Alison Bloomer

Alison Bloomer is Editor of Learning Disability Today. She has over 25 years of experience writing for medical journals and trade publications. Subjects include healthcare, pharmaceuticals, disability, insurance, stock market and emerging technologies. She is also a mother to a gorgeous 13-year-old boy who has a learning disability.

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