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New genetic screening test for rare diseases to be launched in US

21 February 2011

By Rosemary Paxman

Appeared in BioNews 596

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). The test sprays genomes with genetic sequences to identify mutations in genes, such as those causing Batten and other childhood genetic diseases. Preconception screening, along with genetic counselling of carriers, has seen a decline in the number of severe recessive diseases, such as cystic fibrosis. However, extension of such screening to more severe disease genes has up to now been impractical.

The new test, due to become available towards the end of 2011, also benefits from being cheaper than separate tests currently offered for any one of the 450 diseases it can screen for.

Researchers at the National Centre for Genome Resources, New Mexico, (NCGR) carried out a preconception carrier screen for 448 inherited childhood diseases. Instead of expensive and time-consuming complete human genome sequencing, 7,717 regions from 437 target genes were enriched by hybrid capture or microdroplet PCR (polymerase chain reaction).

Results demonstrated mutation detection/genotyping had around 95 percent sensitivity and almost 100 percent specificity for substitution, insertion/deletion, splicing, and gross deletion mutations and SNPs (single nucleotide polymorphisms). Researchers also discovered potential harmful mutations which had until then been previously uncharacterised.

'This represents an important milestone in reducing the number of children and families affected by these devastating illnesses', said Dr Stephen Kingsmore, Chief Scientific Officer of the NCGR.

Despite being individually uncommon, critical genetic childhood diseases make up around 20 percent of all infant deaths and ten percent of all paediatric hospitalisations. Similar screening methods have been applied to Tay-Sachs Disease detection which saw a 90 percent reduction in occurrences among the target population.

The findings were published in Science Translational Medicine.


Beyond Batten Disease Foundation
| 18 February 2011
Science Translational Medicine | 12 January 2011
Medill Reports, Northwestern University, | 16 February 2011


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11 April 2011 - by Harriet Vickers 
The UK Government's advisory body on genetics has said there are no legal, social or ethical barriers to pre-pregnancy genetic screening, and that this could be offered routinely on the NHS. In a report out last week, the Human Genetics Commission (HGC) said testing should be 'equally available to all those who may benefit from it'....

17 January 2011 - by Stephen Nutt 
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16 August 2010 - by Dr Lux Fatimathas 
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....
01 February 2010 - by Dr Nadeem Shaikh 
A company in the US is offering potential parents the chance to test whether their future offspring might develop serious health problems by selling them home genetic test kits. Counsyl allows customers to send a saliva sample via the post, which is used in conjunction with DNA chip technology to screen if the person is a carrier for a single genetic mutation known to cause a disease. If both parents carry the same mutation,...
09 November 2009 - by Dr Will Fletcher 
The UK National Screening Committee is considering plans to screen newborn babies for a greater number of rare conditions. Currently, on a newborn's fifth day, a single spot of blood is taken from their heel, and they are screened for five conditions including sickle-cell disorders (SCD) and cystic fibrosis (CF). Parents then receive the results of the tests around eight weeks later. This lags behind some areas of Europe where they test for 10 or more conditions, and some American states that...
19 July 2009 - by Sarah Pritchard 
A venture-backed US start-up company ‘Pathway Genomics' announced its launch last week, and is promising to provide the most comprehensive DNA analysis publicly available; for the lowest price....

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