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

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

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 I know I have it, I get regular colonoscopies and scans, but many people aren’t diagnosed so don’t spot the signs of cancer.”

Lynch Syndrome is one of the most common genetic conditions, but 95% of people don’t know they have it.

Tracy was diagnosed with bowel cancer, and although not much was known about Lynch Syndrome then, her oncologist suspected something wasn’t right and suggested she was screened for Lynch Syndrome.
The test revealed Tracy had Lynch Syndrome which then triggered tests for her whole family. Subsequently all three of her siblings, and all her Aunts & Uncles on her Dad’s side have also been diagnosed. Unfortunately, the knowledge came too late for her youngest sister and cousin who died aged 23 and 20.

“That decision to get tested opened a giant can of worms, but it helped to prevent further losses in our family. Knowledge has given us power.”

Since Tracy’s diagnosis, NICE guidelines now recommend that everyone with endometrial or colorectal cancer should automatically be screened for Lynch Syndrome.

Tracy, along with six of her fellow patients, set up Lynch Syndrome UK to raise awareness of the condition. Together they have worked with the NHS to establish a screening programme for Lynch across the country.

Today marks Lynch Syndrome Awareness Day and the NHS is celebrating. 95% of all endometrial and bowel cancer patients now get screened for Lynch which wasn’t the case four years ago.

“All of my family are now super aware and listen to their bodies. My auntie (we call her Auntie Nine Lives) has had cancer in her bowel, kidney, skin & bladder. All of them are related to Lynch, but all were picked up early thanks to her Lynch diagnosis and the regular scans offered to her.”

Tracey tells everyone she knows about Lynch Syndrome and has no plans to stop now.
“When I was diagnosed, my GP had never come across another Lynch patient before. I explained to him what it meant and since then he has learnt more. His new knowledge has now helped other patients. That’s why I do it.”

Up to 300,000 people are thought to have Lynch Syndrome in the UK right now, but 95% of them don’t know they have it.

Everyone who is diagnosed with bowel or endometrial cancer should be offered genetic testing for Lynch Syndrome as part of a national NHS programme.

A genetic diagnosis of Lynch means that doctors can treat your cancer more effectively, but it also means your family can access genetic testing for Lynch Syndrome to help prevent cancer in them.
Lynch Syndrome can increase your risk of developing cancer to 80% over your lifetime. The genetic change seen in Lynch can lead to more abnormal cells developing which then multiply and become cancerous.

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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.