News

Genetic Counsellor, Andrea Foreman shares her top tips for anyone working in cancer who may come across patients with Lynch Syndrome.

Seeing the impact that the Lynch Syndrome screening programme has on people has lit a fire in me!

Andrea is a genetic counsellor and is passionate about supporting people through genetic testing for cancer. “When I first qualified 20 years ago, there was only a handful of genetic tests available for cancer. Now, the world of genomics has changed so much that we are able to offer multiple genetic tests for a whole …

Seeing the impact that the Lynch Syndrome screening programme has on people has lit a fire in me! Read More »

Mel Dixon talks about her two children who both have a rare genetic condition, thanks to a change to the DHDDS gene.

One Mum’s story

Mel & Charlie have three children, Tom, Harry and Rosie. Whole Genome Sequencing identified that both Tom & Rosie have the same ultra rare DHDDS gene mutation. These mutations cause symptoms such as learning difficulties, tremors, myoclonus and seizures all of which can range from mild to severe. As the DHDDS gene was only decided …

One Mum’s story Read More »

Image of Millie who has a a rare genetic condition called Tuberous Sclerosis Complex. Millie is sharing her story.

I’m proud of my epilepsy. It’s made me who I am.

Millie has just turned 30. She had her first epileptic seizure when she was just 11 months old and was then diagnosed with the rare genetic condition, Tuberous Sclerosis Complex (TSC). Throughout her childhood, Millie had many seizures and multiple hospital appointments. TSC causes a wide range of symptoms. The most common is epilepsy, but …

I’m proud of my epilepsy. It’s made me who I am. Read More »

Image of Rachel who is sharing your story of genetic testing and discovering she has the BRCA gene variant.

When I got my BRCA diagnosis I wondered what my life would be like

Rachel has always been very aware of breast cancer after her Mum and Aunt both had breast cancer at an early age. Their experience motivated Rachel to visit her GP who listened to her concerns and put her on the high-risk family register, which opened up the opportunity to have a mammogram every year. It …

When I got my BRCA diagnosis I wondered what my life would be like Read More »

Picture of Jenanine who is sharing her story about she discovered she has a BRCA gene variant which increases her chance of developing cancer.

Knowledge has given me the power to take control and make my own decisions

Jenanine is 53 and only found out that she carried the BRCA2 gene at Christmas. Since then she’s had a bi-lateral salpingo-oopherectomy, a total hysterectomy and is currently recovering from a double mastectomy to reduce her risk of breast cancer. Several years ago, Jenanine was invited for a mammogram as part of a random sample …

Knowledge has given me the power to take control and make my own decisions Read More »

Photo of Alan Baker who is sharing his story to mark Hereditary Cancer Awareness Week.

Genomics has helped me to understand why my family keep getting cancer

Alan’s Mum had bowel cancer when she was 40 years old. Unfortunately, she then developed womb cancer when she was 60 and died. When his brother also died from bowel cancer at just 45, Alan started to look for answers. “I read that bowel cancer could be genetic. I never knew that before, so I …

Genomics has helped me to understand why my family keep getting cancer Read More »

Genomics has transformed the use of medicines for my Cystic Fibrosis patients

To celebrate World Pharmacist Day, we’re exploring how genomics is changing the way many pharmacists work. Christian Chadwick is a pharmacist at the University Hospitals Sussex in Brighton where he specialises in neonatal intensive care. He also looks after children who have Cystic Fibrosis. Pharmacogenomics has had an impact on the use of antibiotics in …

Genomics has transformed the use of medicines for my Cystic Fibrosis patients Read More »

A unique pharmacy role is enabling people to be diagnosed with Familial Hypercholesterolaemia and have the right treatment started much quicker

To celebrate World Pharmacist Day, we’re exploring how genomics is changing the way many pharmacists work. Pedro Bandeira is a senior pharmacist at St. George’s Hospital in London. He specialises in cardiovascular disease and lipid disorders, and runs innovative pharmacist-led cardiovascular risk and lipid optimisation clinics in South London. At his weekly Cholesterol Clinic, he …

A unique pharmacy role is enabling people to be diagnosed with Familial Hypercholesterolaemia and have the right treatment started much quicker 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.