Great Ormond Street Hospital launches unique genetic tests

Dubai, UAE, January 27, 2016:  Great Ormond Street Hospital (GOSH), one of the top five children’s hospitals in the world, has developed Non-Invasive Prenatal Diagnosis (NIPD) for pregnant women - a safe alternative to the traditional invasive prenatal test. 

The new test available at GOSH requires only a blood sample from the mother. GOSH is the only centre worldwide offering this unique, accredited service.
How does NIPD work?

When a woman is pregnant, there is a small amount of her baby’s DNA circulating in her bloodstream. This is called cell free fetal DNA (cffDNA) and by testing a maternal blood sample, GOSH can analyse the baby’s DNA. This provides a safe alternative to traditional invasive tests.

Testing may be offered for the following reasons: 

• There is a clinical indication in the baby, for example an abnormality seen on an ultrasound scan 
• There is a high risk of a genetic condition in the baby, usually because the couple already have an affected child and there is a high risk to any future pregnancy 

Commenting on this unprecedented step, Lucy Jenkins the Interim Director of the North East Thames Regional Genetics Laboratory based at Great Ormond Street Hospital and Consultant Clinical Scientist for Molecular Genetics said: “The real focus of the non-invasive prenatal diagnostic test is about giving people the option to safely find out if their baby has a genetic disease, which is what our test offers. GOSHome allows patients to avoid the diagnostic odyssey, where patients with rare conditions affecting multi-organ systems may have to wait years before their condition is finally diagnosed. GOSHome allows us to tailor the test to a panel of genes allowing for a timey result that will not reveal information that is not expected or consented.”

Conditions GOSH can test for: 

• Fetal sexing (this is only available where the pregnancy is at risk of a sex-linked disorder) 
• Cystic Fibrosis Paternal Mutation Exclusion 
• FGFR3-related skeletal dysplasias 
• FGFR2-related Craniosynostosis including Apert syndrome

The GOSHome test 

The GOSHome is a post-natal diagnostic test available at GOSH for children and adults who have an unknown condition, and is designed to help confirm a genetic diagnosis. The test targets around 5000 known disease-causing genes. 

The test covers rare conditions that are known to be caused by multiple genes, for which it is difficult to make a definitive diagnosis.
GOSH is the only institute worldwide to offer this test with a paediatric focus designed for specific clinical areas. 

How does the GOSHome work? 

Experts at GOSH analyse a subset of the 5000 genes that are relevant to a patient’s clinical presentation in a ‘virtual’ panel. The GOSHome test: 

•    Ensures a timely and meaningful clinical report 
•    Provides data to analyse further genes if indicated 
•    Avoids incidental findings such as late onset predisposition genes 
•    A flexible design approach means GOSH experts can add or remove genes from panels as new scientific discoveries are made

Fast results 

Once the sample is received at GOSH in London, test results are be available in the following times:

• NIPD testing: five working days 
• Bespoke NIPD testing: eight weeks
• GOSHome testing: approximately four months

Find GOSH at Arab Health 

GOSH will be exhibiting at Arab Health in the Dubai International Convention & Exhibition Centre on the 25th - 28th January 2016. Find them at stand Z1C14 in the UK Pavillion where you can chat with GOSH staff about the new tests available and the range of clincial services they offer. 

About GOSH
GOSH is a world-class centre of excellence with over 50 different paediatric specialities under one roof. Through pioneering translational research, GOSH provides cutting-edge treatment for the rarest and most complex paediatric conditions.  

External endorsements: 

• The Children’s Hospitals International Executive Forum (CHIEF) rate GOSH as one of the four leading paediatric research hospitals in the world 
• For the last three years, GOSH together with the Institute of Child Health, has been in the top five centres in the world for research published 
• Between 2010-2014, GOSH/ICH research papers had the highest citation impact of any children’s hospital in the world, as reported by Thomson Reuters