News

Kirsty's Mum, Claire shares their story of finding out that her daughter has a rare genetic condition.

When Kirsty was diagnosed there were only 60 other people in the world with the same condition as her

Kirsty was born seven weeks premature so it didn’t raise immediate alarm bells when she didn’t reach her developmental milestones, such as sitting up or smiling. She was small for her age, but it was easily explained because she’d had severe bronchiolitis when she was only a week old and spent several days in specialist …

When Kirsty was diagnosed there were only 60 other people in the world with the same condition as her Read More »

Photo of Dimtra who is an oncologist and leads the Lynch programme in the South East.

Genomics has revolutionised the way we diagnose and treat people with Lynch Syndrome.

A few years ago, Lynch Syndrome was rarely mentioned amongst cancer teams. Today, NICE guidelines recommend that all patients diagnosed with colorectal and endometrial cancer undergo genomic screening for Lynch Syndrome. Here, Dr Dimitra Repana from St. George’s Hospital in London discusses her efforts to raise awareness about Lynch Syndrome. “I am an Oncologist specialising …

Genomics has revolutionised the way we diagnose and treat people with Lynch Syndrome. Read More »

Photo of Andrea who is sharing her story of having Lynch Syndrome.

I’d never even heard of Lynch Syndrome before. Why is it so common but people don’t know about it?

Andrea is recovering from a hysterectomy. While she’s taking time to rest, she’s determined to raise awareness of Lynch Syndrome, a common genetic condition that most people have never heard of. “When Mum was 52, she was tired all the time. She had a tough job working long hours as a healthcare assistant and the …

I’d never even heard of Lynch Syndrome before. Why is it so common but people don’t know about it? Read More »

Clinical Geneticist, Adam Shaw shares his thoughts on why it's important to screen people for Lynch Syndrome.

People used to think I was a novelty because I was interested in genetics!

Adam Shaw is a Clinical Geneticist and heads up the Genetics team at Guys and  St Thomas’ Hospitals. “When I started in genetics 22 years ago, there weren’t many genetic tests we could do, but now we know it’s the future for cancer treatment and increasingly prevention.” He is particularly passionate about Lynch Syndrome which …

People used to think I was a novelty because I was interested in genetics! Read More »

Emma Jenkins shares her experience of Lynch Syndrome.

I’m grateful that I’ve been diagnosed with a genetic condition

Emma was diagnosed with Lynch Syndrome just before her thirtieth birthday. It’s a relatively common genetic condition that increases your risk of developing cancer by 80%. She was only diagnosed because her Dad got bowel cancer. “Dad didn’t want to be that pushy patient, but he knew something wasn’t right. He’d had a cough that …

I’m grateful that I’ve been diagnosed with a genetic condition Read More »

Why is it important to screen for Lynch Syndrome?

People used to think I was a novelty because I was interested in genetics!

Adam Shaw is a Clinical Geneticist and heads up the Genetics team at Guys & St Thomas’ Hospitals. “When I started in genetics 22 years ago, there weren’t many genetic tests we could do, but now we know it’s the future for cancer treatment and increasingly prevention.” He is particularly passionate about Lynch Syndrome which …

People used to think I was a novelty because I was interested in genetics! Read More »

Sheela tells her story of living with a rare disease

I’ve had 27 surgeries in 27 years……and counting

Sheela Rajkumar has a very rare condition called von Hippel-Lindau syndrome. Also known as VHL, it is largely a hereditary condition that causes both cancerous and non-cancerous tumours and cysts to develop in up to ten places throughout the body. There’s no such thing as a “typical” VHL patient. Everyone is affected very differently and …

I’ve had 27 surgeries in 27 years……and counting Read More »

Photo of Deputy Prime Minister, Oliver Dowden visiting the lab at St Thomas' hospital

New £3 million funding to expand rapid genetic testing to more patients

A new 2 year pilot, announced by NHS England and Department of Science Innovation & Technology, will offer the potential for faster diagnosis for patients struggling with infectious respiratory conditions. The money will fund the expansion of the highly successful rapid genetic testing pilot undertaken by Guy’s and St Thomas’. The study has trialled new …

New £3 million funding to expand rapid genetic testing to more patients Read More »

New research published today showcases the importance of whole genome sequencing for our cancer patients

Everyday patients benefit from genomic testing. New research published today shows how important genomics has become in the treatment of cancer. The findings, published today by Genomics England in Nature Medicine, show just how much doctors and scientists have learnt over the past 5 years about how genetics can influence cancer and inform how we …

New research published today showcases the importance of whole genome sequencing for our cancer patients 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.