Advanced Pre-Pregnancy Genetic Screen Now Available in the UK

The world’s most advanced pre-pregnancy genetic carrier test (CGT®) will be available for the first time in the UK, within a matter of weeks. The new, simple blood test 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. Both individuals are tested; if both are found to be carriers of a mutation in the same single gene, then there is a high risk that they will have a child affected by that genetic disorder.

• Pre-conception blood test checks 4,500 mutations and 549 genes for more than 600 genetic diseases - results in 30 days
• Identifies potentially life limiting illnesses – such as cystic fibrosis, spinal muscular atrophy and sickle-cell anemia
• 1-in-30 UK babies born with genetic disorder – testing could reduce this to 1-in-100,000
• Available across British Isles in UK first

British and Spanish scientists have collaborated to create the new service; award winning British biotech firm Randox, in partnership with Spain’s iGenomix, renowned for its expertise in reproductive genetics, are bringing the test to the UK. By May, CGT will be available across the British Isles, through Randox’s healthcare division, Randox Health (with clinics in London and Northern Ireland). The purpose of carrier screening is to identify couples at risk of passing on genetic conditions to their offspring. Current carrier screening on the NHS focuses on those with a family history of an individual condition, such as cystic fibrosis – this new test allows for a wide-ranging assessment of adults, including those who may not have a family history.

“This new test aims to minimize this risk” says Dr Peter FitzGerald, MD at Randox Health, “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 genetic test from Randox Health & iGenomix, 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 from a total of 549 genes, as Christina Iranzo, Director of iGenomix explains: “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 analyzed simultaneously and cost-effectively, and for the first time it is possible to set up screening programs for a large number of monogenic diseases or serious diseases caused by the alteration of a gene.”

The test screens all mutations recommended by gynecological and genetics bodies and is clinically validated with results back in 30 days, but does not cover diseases of complex inheritance such as Autism, Asthma and Diabetes. Counselling and support services for couples are available pre and post testing through Randox Health & iGenomix. Although the test is the most comprehensive and advanced of its kind, there is still a residual risk that parents are carriers of more obscure mutations that are unable to be analyzed and therefore would not be detected.