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Picture of midwives Beth & Nicola celebrating International Day of the Midwife

Today we are celebrating our amazing midwives!

Midwives support thousands of women and families every day. They ensure people have the right information which enables them to make individualised decisions throughout their pregnancy, labour and beyond. Midwives are already involved in genomics, although they may not realise it! Because midwives spend time with people to understand their medical, family and pregnancy history, …

Today we are celebrating our amazing midwives! Read More »

Photo of Tracy Smith who has Lynch Syndrome. She shares her story to help more people know about this common condition.

That decision to get tested opened a giant can of worms, but it saved my family from any further loss.

Tracy Smith was diagnosed with Lynch Syndrome 20 years ago when she was 33 years old. Since then she has dedicated herself to making sure more people hear about this little known, but common, genetic condition. “Everyone needs to know about it. Having Lynch Syndrome has raised my risk of having cancer to 80%. Because …

That decision to get tested opened a giant can of worms, but it saved my family from any further loss. Read More »

New study reveals changes to the CRELD1 gene cause a rare genetic condition often confused with epilepsy

Ground breaking discovery will offer answers for many families whose children have an undiagnosed genetic condition

“Like many desperate parents, I became an FBI investigator. Thanks to social media, I found some answers” New study reveals changes to the CRELD1 gene are the cause of an extremely rare genetic disorder Children in the UK will now be able to get genetic testing for the condition on the NHS The discovery is …

Ground breaking discovery will offer answers for many families whose children have an undiagnosed genetic condition Read More »

Photo of Adam and his son Alfie. Two of Adam's children have a rare genetic change to their CRELD1 gene.

Like many desperate parents, I became an FBI investigator

Adam and his wife Jess gave birth to Lola in May 2018. They were already parents to Daisy and were looking forward to expanding their little family. But their joy quickly turned to desperation when Lola’s struggles started. “Lola had her first seizure when she was just three months old. She was failing to hit …

Like many desperate parents, I became an FBI investigator Read More »

Graphic with information about a new genetic test for people of African & Caribbean ancestry who are considering donating a live kidney.

NHS England have announced funding for a new genetic test for APOL1 gene variations. It’s available for anyone of African, Brazilian or Caribbean ancestry who is considering donating a kidney. The test is already part of the British Transplantation Society guidelines and will be available for Chronic Kidney Disease risk stratification. Changes to the APOL1 …

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Image of Lisa and her daughter Emily. Lisa is sharing her story of discovering she has the BRCA gene variant following genetic testing.

I would never have known that I carry the BRCA gene if it wasn’t for my daughter

Lisa first heard about genomics thanks to her daughter, Emily. Emily has a rare form of cerebral palsy called Worcester Syndrome and it was suggested to the family that they could have their whole genome sequenced as part of the national 100,000 Genome Project. Emily, and both her parents, decided to go ahead with the …

I would never have known that I carry the BRCA gene if it wasn’t for my daughter Read More »

With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.