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Irish Wedding News

04/03/2015

Pre-Pregnancy Genetic Carrier Test To Be Made Available In UK

A pre-pregnancy genetic carrier test, said to be the most advanced in the world, is to be made available in the UK "within a matter of weeks".

The test, CGT®, is a new, simple blood test that can detect more than 600 hereditary diseases before conception and is for couples who are thinking of having a baby either naturally or through assisted reproduction.

It has been developed by British biotech company Randox, in partnership with Spain's iGenomix, and it is hoped the test will be made available throughout the UK by May, through Randox's healthcare division, Randox Health.

Both individuals are tested under CGT, with the test covering a range of disorders, allowing for the prevention of life-limiting diseases in children, such as cystic fibrosis, sickle-cell anaemia and spinal muscular atrophy.

The purpose of carrier screening is to identify couples at risk of passing on genetic conditions to their offspring. Current screening on the NHS focuses on those with a family history of an individual condition, like cystic fibrosis, but this new test allows for a wide-ranging assessment of adults, including those who may not have a family history of certain conditions.

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Commonly, healthy adults can carry between two and three recessive genetic alterations, and if both are carriers of the same genetic mutation, it can result in their offspring being born with a serious genetic condition.

Dr Peter FitzGerald, Managing Director at Randox Health, explained: "This new test aims to minimize this risk. Our wide ranging new screen will detect potential problems before pregnancy, by obtaining information from both parents through scoping 549 genes.

"A working party of the Royal College of Physicians has estimated that 2-3% of births result in babies with either congenital or genetically determined abnormalities, but with this test, we can alert prospective parents to the risk of serious genetic conditions such as Autosomal Recessive Polycystic Kidneys, Fragile-X syndrome and Mucopolysaccharidosis."

The procedure involves a simple blood test from both parents, taken by Randox Health's expert clinical team. The samples are then screened for a range of potential mutations.

Christina Iranzo, Director of iGenomix, said: "The objective of our work with Randox Health is to significantly reduce the risk of couples in the UK having a child with any type of genetic disease.

"The CGT test enables multiple genes or mutations to be analysed simultaneously and cost-effectively, and for the first time it is possible to set up screening programmes for a large number of monogenic diseases or serious diseases caused by the alteration of a gene.

"In this way, we are able to prevent a disease from appearing, both in children conceived naturally and those conceived through assisted reproduction techniques which is a fantastic development, and a big step forward for fertility health in the UK."

The test screens all mutations recommended by gynaecological and genetics bodies, and is clinically validated, but it does not cover diseases of complex inheritance such as autism, asthma and diabetes.

(JP)

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"A pre-pregnancy genetic carrier test, said to be the most advanced in the world, is to be made available in the UK "within a matter of weeks"."