Page URL: https://www.bionews.org.uk/page_92515

Newborns to be screened for genetic conditions

16 August 2010
Appeared in BioNews 571

Newborn babies showing signs of liver disorders will be screened for 92 genetic conditions, as part of a trial launching next month at Birmingham Children's Hospital. Newborns will be screened for multiple conditions with a single test using gene chip technology.

'We have shown that it is possible to screen accurately for many diseases simultaneously. This is a singular breakthrough, especially of benefit to children affected by rare disorders that are frequently late-diagnosed' said Dr Chris Hendriksz, one of four consultants leading the trial at Birmingham Children's Hospital.

The trial would allow treatment for such rare disorders to be implemented sooner and in a more targeted manner. 'These [disorders] can often be managed if detected early', said Dr Hendriksz.

Previously gene chip technology had mainly been used to screen for a single disease. However a pilot study, carried out at Birmingham Children’s Hospital, screening for 12 different liver diseases produced an accuracy rate between 83% and 95%. Following these results, published in the journal Human Mutation, the trial will be launched in centres in eight other countries, in addition to the UK.

The screens only require a single drop of blood and are estimated to be cheaper than currently available tests. Each screen would cost between £600 and £1000 per person, according to specialists in the field. This is approximately the same price current genetic tests for a single liver disorder cost.

The trial will screen approximately 300 newborns a year according to Professor Deidre Kelly, head of the Liver Unit at Birmingham Children's Hospital. 'Our long-term intention is for every child with liver disease to have their DNA checked for a whole range of genetic disorders using the chip', Professor Kelly stated.

Currently newborn babies are subjected to heel-prick blood spot testing for only five diseases; the metabolic disorders MCADD and phenylketonuria, cystic fibrosis, sickle-cell anaemia and hypothyroidism. Similar testing for rarer diseases is largely still unavailable.

SOURCES & REFERENCES
Birmingham Chidren's' Hospital Department of Clinical Inherited Metabolic Disorders
|  12 August 2010
Newborn babies to be screened for 92 genetic conditions in trial
The Times |  7 August 2010
Newborns to be screened for 92 genes
Daily Mail |  7 August 2010
RELATED ARTICLES FROM THE BIONEWS ARCHIVE
12 January 2015 - by Dr Charlotte Warren-Gash 
All newborn babies in England are now to be offered screening for four rare life-threatening genetic disorders...
30 June 2014 - by Isobel Steer 
A combination of two gene-targeting drugs significantly increases the lung function of cystic fibrosis patients, a clinical trial shows....
21 February 2011 - by Rosemary Paxman 
A new genetic test screening for almost 450 rare childhood genetic diseases could be available in the US this year, reports the Beyond Batten Disease Foundation (BBDF)....
17 January 2011 - by Owen Clark 
New research suggests that Down's syndrome could be detected using genetic screening, avoiding the need for invasive detection procedures....
17 January 2011 - by Stephen Nutt 
A report released recently by Rare Disease UK (RDUK) demonstrates how patients and families affected by rare diseases frequently have problems accessing good quality services, care and support. The report, 'Experiences of Rare Diseases: An Insight from Patients and Families'[1], is based on a survey of 600 patients and families conducted by RDUK to examine a wide range of topics pertinent to patients with rare diseases: diagnosis, participation in research, access to treatment, information, ...
19 February 2007 - by Antony Starza-Allen 
All newborn babies in England will be offered screening for the rare metabolic disorder Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). MCADD is an autosomal recessive genetic disorder that is caused by a lack of an enzyme that converts fat into energy, affecting blood sugar levels. The...
23 October 2006 - by Dr Jess Buxton 
All newborn babies in the UK are now screened for sickle cell disease within two weeks of birth, the NHS Sickle Cell and Thalassaemia Steering Group told stakeholders last week. The check, carried out as part of the routine 'heel prick' test, is expected to identify...
14 July 2006 - by Dr Jess Buxton 
Nearly two-thirds of all babies born in the US this year will be screened for more than 20 life-threatening conditions, according to a new report by the March of Dimes. It follows last year's call from the charity for all states to carry out a battery...
4 April 2005 - by BioNews 
The UK's Human Genetics Commission (HGC) and National Screening Committee (NSC) have published a joint report on the potential testing of newborn babies to detect genetic variations with health implications. The document, entitled 'Profiling the newborn', concludes that routine newborn genetic profiling is not likely to be affordable for at...
18 August 2003 - by BioNews 
Baroness Helena Kennedy, chair of the UK's Human Genetics Commission (HGC) has said in an interview with the UK's Financial Times that the HGC is likely to reject proposals to genetically screen all newborn babies. In a White Paper issued in June 2003, the government proposed new measures to strengthen...
HAVE YOUR SAY
Log in 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.