Page URL:

Call for genome sequencing pilot in newborn screening

29 July 2019
Appeared in BioNews 1008

A new report has called for genome sequencing to be trialled alongside the nine tests that currently comprise newborn screening in the UK.

Including genome sequencing would facilitate testing for a greater number of rare genetic conditions and diseases, bringing the UK in line with the level of genetic testing performed in other countries, according to Genetic Alliance UK's report.

'The pace of adoption of new blood spot screening programmes in the UK has become so slow that we have been left behind by the majority of high-income countries,' Dr Jayne Spink, Chief Executive of Genetic Alliance UK, told HuffPost. 'It is painful to think of the unnecessarily long diagnostic pathways that some families in the UK must endure, and worse to think of the missed opportunities – including treatment.'

In the UK, parents can consent to have a blood sample taken from their newborn which is then sent away and tested for nine conditions that are rare, but serious. Getting an early diagnosis of a rare disease before symptoms begin can help families pursue treatment early or plan for the family's future. In other countries, a broader number of rare diseases and other conditions are tested for in the screening. Many countries in Europe test for 20 or more conditions, and US parents can opt to test for more than 50.

Which tests are included in newborn screening is determined by the UK National Screening Committee, which makes recommendations every three years. The Genetic Alliance UK report recommends that genome sequencing be piloted alongside current screening. Adding genome sequencing could expand the range of conditions tested for, and has the potential to shorten the period of diagnosis while remaining cost-effective.

'We have to ensure that newborn screening keeps pace with diagnosis in later life and we must embrace the potential of both current technology and that of genetics.' Said Dr Spink.

The National Screening Committee will be making its next recommendations in the Autumn.

Endorse Our Newborn Screening Patient Charter
Genetic Alliance UK |  24 July 2019
NHS Newborn Baby Screenings 'Not Good Enough', Say Campaigners
Huffington Post |  23 July 2019
UK newborn baby screening 'not good enough'
BBC News |  23 July 2019
15 November 2021 - by Christina Burke 
Outcomes for child cancer patients could be dramatically improved by sequencing their genomes, a study has shown...
12 July 2021 - by Dr Eleanor Lynam 
Members of the UK public are largely supportive of the use of whole genome sequencing in newborn screening, according to a national public dialogue...
20 January 2020 - by Dr Melanie Krause 
Genomics England has announced it will partner with Illumina, a US-based manufacturing and service company providing automated DNA sequencing...
13 January 2020 - by Dr Charlott Repschlager 
A new form of DNA testing that has the potential to rapidly diagnose rare diseases in critically ill babies and children has been made available on the NHS...
25 November 2019 - by Dr Eleanor Lynam 
'Designer babies' created via IVF and selected on the basis of genetic combinations for intelligence or height are unlikely to become reality, according to a recent study...
20 May 2019 - by Ana Hallgarten 
The Progress Educational Trust's event 'Testing Times: How Should We Use Genomic Data in Assisted Reproduction' took place at Amnesty International in London on the 16 May 2019. The event aimed to give members of the audience an insight into current uses of genomic data in assisted reproduction and its possible future uses...
14 January 2019 - by Grace O'Regan 
The Long Term Plan announced by the NHS this week has detailed a proposal to offer whole-genome sequencing for all children with cancer in England...
7 January 2019 - by Dr Barbara Kramarz 
A whole-genome sequencing trial for newborns in the US has published its initial results, detecting a genetic childhood-onset condition in almost 10 percent of babies...
20 August 2018 - by Shaoni Bhattacharya 
The universal screening of babies' genomes at birth is not 'inevitable', according to a new report from a US bioethics organisation...
13 August 2018 - by Dr Charlott Repschlager 
Pre-implantation genetic testing of embryos does not improve IVF birth rates in older women, found the largest study of its kind yet...
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.